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 TENM1 10178 broad.mit.edu 37 X 124030042 124030042 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chrX:124030042G>A ENST00000422452.2 - 2 329 c.266C>T c.(265-267)aCa>aTa p.T89I TENM1_ENST00000371130.3_Missense_Mutation_p.T89I NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GTGCATGTCTGTTTGGTAGCC 0.473000 80 51 0 0 0.870114 0 0 SH2D3C 10044 broad.mit.edu 37 9 130513556 130513556 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr9:130513556C>T ENST00000314830.8 - 4 692 c.579G>A c.(577-579)ctG>ctA p.L193L SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000420366.1_Silent_p.L35L|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Silent_p.L125L|SH2D3C_ENST00000373277.4_Silent_p.L36L|SH2D3C_ENST00000373274.3_Silent_p.L33L NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 193 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCGATGAGTCCAGGATGTACT 0.517000 67 26 0 0 0.870114 0 0 FAM135B 51059 broad.mit.edu 37 8 139163542 139163542 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:139163542G>A ENST00000395297.1 - 13 3346 c.3176C>T c.(3175-3177)tCc>tTc p.S1059F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1059 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGTCTGTTTGGAAGAGAATCC 0.522000 HNSCC(54;0.14) 28 23 0 0 0.740014 0 0 MROH7 374977 broad.mit.edu 37 1 55167796 55167796 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:55167796C>T ENST00000414150.2 + 20 3597 c.3319C>T c.(3319-3321)Ctg>Ttg p.L1107L MROH7_ENST00000421030.2_Silent_p.L1107L|MROH7_ENST00000409996.1_Silent_p.L675L|MROH7_ENST00000454855.2_Silent_p.L625L maestro heat-like repeat family member 7 CTGCATCAACCTGTATGGGAA 0.622000 15 22 0 0 0.557998 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215804 140215804 + Silent SNP A A G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:140215804A>G ENST00000525929.1 + 1 1836 c.1836A>G c.(1834-1836)caA>caG p.Q612Q PCDHA7_ENST00000378125.3_Silent_p.Q612Q|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGTTGCAACCGGTGGCGG 0.647000 28 99 0 0 0.760397 0 0 EEF1D 1936 broad.mit.edu 37 8 144668986 144668986 + Missense_Mutation SNP C C A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:144668986C>A ENST00000532741.1 - 2 1506 c.1278G>T c.(1276-1278)aaG>aaT p.K426N EEF1D_ENST00000529272.1_Missense_Mutation_p.K10N|EEF1D_ENST00000423316.2_Missense_Mutation_p.K376N|EEF1D_ENST00000531621.1_Missense_Mutation_p.K10N|EEF1D_ENST00000532400.1_Missense_Mutation_p.K10N|EEF1D_ENST00000524624.1_Missense_Mutation_p.K10N|EEF1D_ENST00000528610.1_Missense_Mutation_p.K10N|EEF1D_ENST00000317198.6_Missense_Mutation_p.K10N|EEF1D_ENST00000526838.1_Missense_Mutation_p.K10N|EEF1D_ENST00000419152.2_Missense_Mutation_p.K10N|EEF1D_ENST00000442189.2_Missense_Mutation_p.K376N|EEF1D_ENST00000395119.3_Missense_Mutation_p.K10N P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 10 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CGAACCAGATCTTCTCATGTG 0.547000 5 152 0.0215528 0.0225475 0.217242 1 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr21:11058340A>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGGGTAAAGGAGAGAAATCTC 0.363000 14 159 0 0 0.479597 0 0 RP1L1 94137 broad.mit.edu 37 8 10469525 10469525 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:10469525C>T ENST00000382483.3 - 4 2306 c.2083G>A c.(2083-2085)Gcc>Acc p.A695T NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 695 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCTGGCAGGCCCTTCGCCGC 0.617000 34 16 0 0 0.796494 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 7 37 0 0 0.278610 0 0 SNHG12 85028 broad.mit.edu 37 1 28907523 28907523 + RNA SNP A A G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:28907523A>G ENST00000488745.1 - 0 1013 SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000384342.1_RNA CTTTTTGACCACAGCAGCTAT 0.507000 41 71 0 0 0.870114 0 0 IL23R 149233 broad.mit.edu 37 1 67666516 67666516 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:67666516C>T ENST00000347310.5 + 5 759 c.588C>T c.(586-588)gtC>gtT p.V196V IL23R_ENST00000371002.1_Silent_p.V196V|C1orf141_ENST00000371007.2_Intron NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 196 Fibronectin type-III 1. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 TGGTTTGGGTCCAAGCAGCAA 0.373000 39 77 0 0 0.870114 0 0 COL7A1 1294 broad.mit.edu 37 3 48622192 48622192 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:48622192C>T ENST00000328333.8 - 34 4129 c.4022G>A c.(4021-4023)gGa>gAa p.G1341E COL7A1_ENST00000454817.1_Missense_Mutation_p.G1341E NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1341 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCCTCGAGGTCCTCGCTCTCC 0.667000 14 50 0 0 0.520397 0 0 ZNF708 7562 broad.mit.edu 37 19 21476165 21476165 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:21476165C>T ENST00000356929.3 - 4 1800 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 CCACATTCTTCACATTTGTAG 0.358000 4 62 0 0 0.150653 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545533 234545533 + Missense_Mutation SNP C C T rs145610800 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:234545533C>T ENST00000344644.5 + 1 434 c.365C>T c.(364-366)tCg>tTg p.S122L UGT1A10_ENST00000373445.1_Missense_Mutation_p.S122L|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TTATTTTTTTCGCATTGCAGG 0.363000 17 119 0 0 0.608945 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55239263 55239263 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:55239263C>T ENST00000291860.1 + 4 560 c.542C>T c.(541-543)tCc>tTc p.S181F CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron NM_153443.3 NP_703144.2 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 181 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GTCAACTATTCCATGGGTCCC 0.572000 69 56 0 0 0.870114 0 0 KYNU 8942 broad.mit.edu 37 2 143790836 143790836 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:143790836C>T ENST00000264170.4 + 12 1245 c.987C>T c.(985-987)ttC>ttT p.F329F KYNU_ENST00000409512.1_Silent_p.F329F NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 329 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TCTGTGGATTCCGAATTTCAA 0.373000 139 131 0 0 0.870114 0 0 ZNF761 388561 broad.mit.edu 37 19 53959186 53959186 + RNA SNP C C G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:53959186C>G ENST00000454407.1 + 0 1878 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACAAAGCTTTCCGTTTCAAAT 0.423000 38 72 0 0 0.812448 0 0 ZNF761 388561 broad.mit.edu 37 19 53959187 53959187 + RNA SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:53959187C>T ENST00000454407.1 + 0 1879 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) CAAAGCTTTCCGTTTCAAATC 0.423000 37 73 0 0 0.804634 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73168939 73168939 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:73168939C>T ENST00000545377.1 + 22 2858 c.2682C>T c.(2680-2682)ttC>ttT p.F894F ARHGEF28_ENST00000513042.2_Silent_p.F894F|ARHGEF28_ENST00000426542.2_Silent_p.F894F|ARHGEF28_ENST00000437974.1_Silent_p.F894F|ARHGEF28_ENST00000296794.6_Silent_p.F894F|ARHGEF28_ENST00000287898.5_Silent_p.F894F|ARHGEF28_ENST00000296799.4_Silent_p.F581F NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 ATAAAATTTTCCCCTGTTTAG 0.468000 10 16 0 0 0.411799 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 69 0 0 0.150653 0 0 WDR3 10885 broad.mit.edu 37 1 118495284 118495284 + Splice_Site SNP T T C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:118495284T>C ENST00000349139.4 + 19 2197 c.2151_splice c.e19+1 p.M717_splice NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 717 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) GAAAGGGAGATGGTAAGAACT 0.448000 27 68 0 0 0.804634 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60242215 60242215 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr18:60242215C>T ENST00000269499.5 + 13 3319 c.2901C>T c.(2899-2901)ggC>ggT p.G967G ZCCHC2_ENST00000586834.1_Silent_p.G646G NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 967 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 ACACCCCAGGCCCTGCCCCGA 0.617000 28 64 0 0 0.740014 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 3 49 0 0 0.184627 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55333038 55333038 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:55333038C>T ENST00000391728.4 + 5 707 c.674C>T c.(673-675)tCt>tTt p.S225F KIR3DL1_ENST00000402254.2_Missense_Mutation_p.S225F|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.S225F|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.S130F|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.S225F|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.S225F NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) GAGAAACCTTCTCTCTCAGCC 0.557000 114 88 0 0 0.870114 0 0 ZNF792 126375 broad.mit.edu 37 19 35449284 35449284 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:35449284C>T ENST00000404801.1 - 4 1861 c.1475G>A c.(1474-1476)aGc>aAc p.S492N ZNF792_ENST00000605484.1_Missense_Mutation_p.S425N NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCTATTGAGGCTGGAGCTCTG 0.493000 61 30 0 0 0.870114 0 0 CALCR 799 broad.mit.edu 37 7 93108821 93108821 + Splice_Site SNP T T C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr7:93108821T>C ENST00000359558.2 - 5 405 c.e5-2 CALCR_ENST00000421592.1_Splice_Site|CALCR_ENST00000394441.1_Splice_Site|CALCR_ENST00000426151.1_Splice_Site|CALCR_ENST00000360249.4_Splice_Site NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GGTTGGGTGCTGTATTAAAAA 0.363000 54 67 0 0 0.870114 0 0 TSPAN14 81619 broad.mit.edu 37 10 82272022 82272022 + Silent SNP T T A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr10:82272022T>A ENST00000429989.2 + 6 796 c.573T>A c.(571-573)ccT>ccA p.P191P TSPAN14_ENST00000372164.3_Silent_p.P174P|TSPAN14_ENST00000372158.1_Silent_p.P191P|TSPAN14_ENST00000341863.6_Silent_p.P134P|TSPAN14_ENST00000372156.1_Silent_p.P191P|TSPAN14_ENST00000481124.1_Silent_p.P68P NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 191 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) TGCCAGATCCTGCGGTGAGTT 0.597000 21 6 0 0 0.639603 0 0 DSG4 147409 broad.mit.edu 37 18 28971146 28971146 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr18:28971146G>A ENST00000359747.4 + 7 819 c.790G>A c.(790-792)Gat>Aat p.D264N RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D264N|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 264 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGACGTCAACGATAATTTCCC 0.388000 52 48 0 0 0.870114 0 0 ZNF221 7638 broad.mit.edu 37 19 44470724 44470724 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:44470724C>T ENST00000251269.5 + 6 1398 c.1070C>T c.(1069-1071)tCc>tTc p.S357F ZNF221_ENST00000592350.1_Missense_Mutation_p.S357F|ZNF221_ENST00000587682.1_Missense_Mutation_p.S357F NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S357F(1) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) AATAGTCATTCCATGGTCCAC 0.413000 102 81 0 0 0.870114 0 0 NRG1 3084 broad.mit.edu 37 8 32613965 32613965 + Missense_Mutation SNP G G T rs145033301 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:32613965G>T ENST00000338921.4 + 10 1389 c.872G>T c.(871-873)cGg>cTg p.R291L NRG1_ENST00000356819.4_Missense_Mutation_p.R288L|NRG1_ENST00000519301.1_Missense_Mutation_p.R233L|NRG1_ENST00000523079.1_Missense_Mutation_p.R280L|NRG1_ENST00000405005.2_Missense_Mutation_p.R283L|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Missense_Mutation_p.R283L|NRG1_ENST00000287845.5_Missense_Mutation_p.R254L|NRG1_ENST00000539990.1_Missense_Mutation_p.R126L|NRG1_ENST00000521670.1_Missense_Mutation_p.R283L|NRG1_ENST00000287842.3_Missense_Mutation_p.R280L Q02297 NRG1_HUMAN neuregulin 1 283 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) CAGAGCCTTCGGTCTGAACGA 0.453000 3 82 0.00909568 0.00958924 0.150653 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102476715 102476715 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr14:102476715C>T ENST00000360184.4 + 31 6488 c.6324C>T c.(6322-6324)atC>atT p.I2108I NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2108 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GAGAGAGAATCCAGAAGATAA 0.463000 26 30 0 0 0.740014 0 0 MYH8 4626 broad.mit.edu 37 17 10310124 10310124 + Splice_Site SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr17:10310124C>T ENST00000403437.2 - 19 2148 c.2053_splice c.e19-1 p.G685_splice CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 685 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTCCATTGCCCCTAAAAATAT 0.418000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 11 16 0 0 0.361761 0 0 FBXO31 79791 broad.mit.edu 37 16 87417077 87417077 + Nonsense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr16:87417077G>A ENST00000311635.7 - 1 286 c.274C>T c.(274-276)Cag>Tag p.Q92* FBXO31_ENST00000563956.1_5'UTR NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 92 F-box. cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) GTGCAGACCTGGGCCAAGCTG 0.736000 5 7 0 0 0.248553 0 0 DSG3 1830 broad.mit.edu 37 18 29054229 29054229 + Silent SNP C C T rs142612259 byFrequency TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr18:29054229C>T ENST00000257189.4 + 15 2330 c.2247C>T c.(2245-2247)ttC>ttT p.F749F NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 749 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTTCAGGATTCGGAGCAGCCA 0.537000 25 31 0 0 0.681144 0 0 WWC1 23286 broad.mit.edu 37 5 167850881 167850881 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:167850881C>T ENST00000265293.4 + 11 2120 c.1618C>T c.(1618-1620)Ctc>Ttc p.L540F WWC1_ENST00000521089.1_Missense_Mutation_p.L540F NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 540 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ACGTTCCTCTCTCTCCTCCCC 0.632000 27 68 0 0 0.779181 0 0 TEAD4 7004 broad.mit.edu 37 12 3147221 3147221 + Missense_Mutation SNP A A G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr12:3147221A>G ENST00000359864.2 + 11 1175 c.985A>G c.(985-987)Acc>Gcc p.T329A TEAD4_ENST00000358409.2_Missense_Mutation_p.T286A|TEAD4_ENST00000397122.2_Missense_Mutation_p.T200A NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 329 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CATGATCATCACCTGCTCCAC 0.587000 21 34 0 0 0.608945 0 0 NLRC5 84166 broad.mit.edu 37 16 57060787 57060787 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr16:57060787C>T ENST00000436936.1 + 6 2157 c.1932C>T c.(1930-1932)ttC>ttT p.F644F NLRC5_ENST00000539144.1_Silent_p.F644F|NLRC5_ENST00000308149.7_Silent_p.F644F|NLRC5_ENST00000262510.6_Silent_p.F644F Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 644 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TCCACAATTTCCCACTGACCT 0.587000 70 68 0 0 0.870114 0 0 CLCA2 9635 broad.mit.edu 37 1 86916377 86916377 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:86916377G>A ENST00000370565.4 + 12 2278 c.2116G>A c.(2116-2118)Ggg>Agg p.G706R CLCA2_ENST00000498802.1_3'UTR NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 706 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CTCTATTCCAGGGAGTCATGC 0.423000 54 91 0 0 0.870114 0 0 NRP1 8829 broad.mit.edu 37 10 33502319 33502319 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr10:33502319C>T ENST00000265371.4 - 10 2134 c.1609G>A c.(1609-1611)Gcg>Acg p.A537T NRP1_ENST00000374821.5_Missense_Mutation_p.A537T|NRP1_ENST00000374822.4_Missense_Mutation_p.A537T|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000395995.1_Missense_Mutation_p.A537T|NRP1_ENST00000374867.2_Missense_Mutation_p.A537T|NRP1_ENST00000466932.1_Splice_Site|NRP1_ENST00000374823.5_Missense_Mutation_p.A537T|NRP1_ENST00000374816.3_Missense_Mutation_p.A537T O14786 NRP1_HUMAN neuropilin 1 537 F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CTCACCTTCGCCTTGCGTTTG 0.527000 98 54 0 0 0.870114 0 0 RYR2 6262 broad.mit.edu 37 1 237664122 237664122 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:237664122G>A ENST00000366574.2 + 21 2632 c.2315G>A c.(2314-2316)gGa>gAa p.G772E RYR2_ENST00000542537.1_Missense_Mutation_p.G756E|RYR2_ENST00000360064.6_Missense_Mutation_p.G770E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 772 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CGAATTAATGGACAACCTGTT 0.403000 41 107 0 0 0.847076 0 0 UCKL1 54963 broad.mit.edu 37 20 62572210 62572210 + Splice_Site SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr20:62572210C>T ENST00000369908.5 - 11 1371 c.e11-1 UCKL1_ENST00000354216.6_Splice_Site|UCKL1_ENST00000358711.3_Splice_Site|UCKL1_ENST00000369892.3_Splice_Site NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CGACGCAGTCCTGTGGGGTGC 0.682000 31 22 0 0 0.827153 0 0 CCDC64B 146439 broad.mit.edu 37 16 3080465 3080465 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr16:3080465C>T ENST00000573514.1 - 3 2316 c.126G>A c.(124-126)cgG>cgA p.R42R CCDC64B_ENST00000389347.4_Silent_p.R249R|CCDC64B_ENST00000572449.1_Silent_p.R249R A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 249 breast(1)|endometrium(2)|large_intestine(1) 4 GGCTGTGCTCCCGCCGCTCCC 0.652000 13 9 0 0 0.500413 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554138 140554138 + Silent SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:140554138G>A ENST00000231137.3 + 1 1896 c.1722G>A c.(1720-1722)gaG>gaA p.E574E NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 574 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGCACCGAGCCGTTGCCCC 0.701000 74 44 0 0 0.870114 0 0 USP6 9098 broad.mit.edu 37 17 5041493 5041493 + Missense_Mutation SNP G G A rs145087393 byFrequency TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr17:5041493G>A ENST00000574788.1 + 21 3233 c.1003G>A c.(1003-1005)Gat>Aat p.D335N USP6_ENST00000332776.4_Missense_Mutation_p.D335N|USP6_ENST00000304328.5_De_novo_Start_InFrame|USP6_ENST00000250066.6_Missense_Mutation_p.D335N P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 335 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GGCCATGAACGATGACACCGT 0.577000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 55 76 0 0 0.870114 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90732959 90732959 + Silent SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr10:90732959G>A ENST00000371927.3 + 11 2233 c.1275G>A c.(1273-1275)ggG>ggA p.G425G ACTA2_ENST00000458208.1_Intron Q96FJ0 STALP_HUMAN STAM binding protein-like 1 0 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TCCTTTCTGGGATAATTTCTG 0.433000 49 26 0 0 0.870114 0 0 VCAN 1462 broad.mit.edu 37 5 82817123 82817123 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:82817123C>T ENST00000265077.3 + 7 3563 c.2998C>T c.(2998-3000)Ccc>Tcc p.P1000S VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P952S|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P1000S NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1000 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCTAGGTGAACCCTCTCAAGA 0.428000 16 48 0 0 0.557998 0 0 LSG1 55341 broad.mit.edu 37 3 194379705 194379705 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:194379705G>A ENST00000265245.5 - 7 1054 c.740C>T c.(739-741)cCc>cTc p.P247L NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 247 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) ACCATTCAGGGGAATGGCTCC 0.458000 48 161 0 0 0.870114 0 0 DNAH9 1770 broad.mit.edu 37 17 11840675 11840675 + Missense_Mutation SNP G G A rs148626653 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr17:11840675G>A ENST00000262442.3 + 66 12564 c.12496G>A c.(12496-12498)Gat>Aat p.D4166N DNAH9_ENST00000396001.2_Missense_Mutation_p.D478N|DNAH9_ENST00000454412.2_Missense_Mutation_p.D4090N NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4166 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) TCAGTACATCGATGCTGAGCT 0.547000 24 97 0 0 0.706142 0 0 BPIFB3 359710 broad.mit.edu 37 20 31656748 31656748 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr20:31656748G>A ENST00000375494.3 + 10 1118 c.1118G>A c.(1117-1119)gGg>gAg p.G373E NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 373 innate immune response cytoplasm|extracellular region lipid binding|protein binding GTCCCTAAGGGGACCCCTGAA 0.592000 27 66 0 0 0.760397 0 0 GABRA5 2558 broad.mit.edu 37 15 27128562 27128562 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr15:27128562C>T ENST00000335625.5 + 6 1243 c.355C>T c.(355-357)Cct>Tct p.P119S GABRA5_ENST00000557449.1_Intron|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.P119S|GABRA5_ENST00000400081.3_Missense_Mutation_p.P119S NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 119 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCAGCGCCTCCCTCTCAACAA 0.532000 59 55 0 0 0.870114 0 0 MMP12 4321 broad.mit.edu 37 11 102745631 102745631 + RNA SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:102745631C>T ENST00000532855.1 - 0 133 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) GCTCCAGAAGCAGTGGCCTGC 0.408000 5 10 0 0 0.278610 0 0 CDH10 1008 broad.mit.edu 37 5 24535308 24535308 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:24535308C>T ENST00000264463.4 - 5 1234 c.727G>A c.(727-729)Ggc>Agc p.G243S NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 243 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ATCTGGCCGCCCATGTCTTTG 0.473000 HNSCC(23;0.051) 24 59 0 0 0.681144 0 0 GHR 2690 broad.mit.edu 37 5 42711475 42711475 + Splice_Site SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:42711475G>A ENST00000230882.4 + 7 974 c.e7+1 GHR_ENST00000357703.3_Splice_Site|GHR_ENST00000537449.1_Splice_Site NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGTGAAGAAGGTAAAAGAAAT 0.378000 25 61 0 0 0.667858 0 0 LY6H 4062 broad.mit.edu 37 8 144239833 144239833 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:144239833G>A ENST00000414417.2 - 5 553 c.320C>T c.(319-321)tCa>tTa p.S107L LY6H_ENST00000430474.2_Missense_Mutation_p.S86L|LY6H_ENST00000342752.4_Missense_Mutation_p.S107L NM_001130478.1 NP_001123950.1 O94772 LY6H_HUMAN lymphocyte antigen 6 complex, locus H 86 nervous system development|organ morphogenesis anchored to membrane|plasma membrane endometrium(1)|lung(1)|stomach(2) 4 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CAGATAGTCTGAGAAAAAGTG 0.547000 5 107 0 0 0.217242 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115903 15115903 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:15115903G>A ENST00000253699.3 - 14 2354 c.1741C>T c.(1741-1743)Cca>Tca p.P581S ZFYVE20_ENST00000476527.2_Missense_Mutation_p.P581S NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 581 Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GTGCTGCTTGGAACTGGGGAA 0.592000 19 11 0 0 0.608945 0 0 ACSS3 79611 broad.mit.edu 37 12 81503432 81503432 + Silent SNP T T C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr12:81503432T>C ENST00000548058.1 + 2 1315 c.405T>C c.(403-405)agT>agC p.S135S RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Silent_p.S134S Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 135 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TCTATGACAGTCCTGTTACAA 0.313000 43 15 0 0 0.870114 0 0 FBXW8 26259 broad.mit.edu 37 12 117461999 117461999 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr12:117461999C>T ENST00000455858.2 + 9 1290 c.1217C>T c.(1216-1218)tCc>tTc p.S406F FBXW8_ENST00000309909.5_Missense_Mutation_p.S472F NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 472 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) CTGTCGCTCTCCGCCCATCAG 0.577000 43 11 0 0 0.870114 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42373218 42373218 + Silent SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr15:42373218G>A ENST00000290472.3 - 12 1165 c.1071C>T c.(1069-1071)ttC>ttT p.F357F NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 357 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) AGATGCCACTGAAGTAGGTCA 0.612000 19 19 0 0 0.608945 0 0 PTGIR 5739 broad.mit.edu 37 19 47124917 47124917 + Missense_Mutation SNP T T G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:47124917T>G ENST00000291294.2 - 3 914 c.781A>C c.(781-783)Acc>Ccc p.T261P PTGIR_ENST00000598865.1_Missense_Mutation_p.T49P|PTGIR_ENST00000597185.1_5'UTR|PTGIR_ENST00000594275.1_Missense_Mutation_p.T18P NM_000960.3 NP_000951.1 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 261 cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) ACAGCCTGGGTGAAGCAGCGG 0.637000 29 16 0 0 0.769981 0 0 HR 55806 broad.mit.edu 37 8 21982903 21982903 + Missense_Mutation SNP G G C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:21982903G>C ENST00000381418.4 - 5 3151 c.1671C>G c.(1669-1671)caC>caG p.H557Q HR_ENST00000312841.8_Missense_Mutation_p.H557Q NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 557 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CACTGAGCAGGTGCTTGGCGA 0.687000 12 6 0 0 0.479597 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 34 72 0 0 0.827153 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049236 36049236 + Silent SNP G G T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:36049236G>T ENST00000282507.3 - 4 699 c.598C>A c.(598-600)Cga>Aga p.R200R UGT3A2_ENST00000513300.1_Silent_p.R166R|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 200 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTCTTCACTCGGCCCCAGAAG 0.453000 3 80 0.150653 0.156404 0.150653 1 0 MEGF8 1954 broad.mit.edu 37 19 42839252 42839252 + Silent SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:42839252G>A ENST00000334370.4 + 4 1259 c.624G>A c.(622-624)gaG>gaA p.E208E MEGF8_ENST00000251268.6_Silent_p.E208E NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 208 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ACCTGTGGGAGAACCAGGGGG 0.642000 13 15 0 0 0.520397 0 0 ZNF197 10168 broad.mit.edu 37 3 44684223 44684223 + Missense_Mutation SNP G G T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:44684223G>T ENST00000396058.1 + 5 1768 c.1601G>T c.(1600-1602)gGg>gTg p.G534V ZNF197_ENST00000344387.4_Missense_Mutation_p.G534V|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA O14709 ZN197_HUMAN zinc finger protein 197 534 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) ATCCACTCTGGGGAAAAACCC 0.433000 7 93 2.52707e-12 2.77162e-12 0.335167 1 0 PAQR8 85315 broad.mit.edu 37 6 52268794 52268794 + Missense_Mutation SNP C C A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr6:52268794C>A ENST00000442253.2 + 2 957 c.783C>A c.(781-783)ttC>ttA p.F261L PAQR8_ENST00000360726.3_Missense_Mutation_p.F261L NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 261 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) GCGCTTATTTCTTCTCCTGCC 0.572000 13 61 1.3612e-06 1.46924e-06 0.479597 1 0 PGLYRP3 114771 broad.mit.edu 37 1 153270485 153270485 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:153270485G>A ENST00000290722.1 - 7 1025 c.973C>T c.(973-975)Cct>Tct p.P325S NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 325 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCTGCCCAGGGGACAGGATG 0.597000 58 261 0 0 0.870114 0 0 UBBP4 23666 broad.mit.edu 37 17 21731075 21731075 + Missense_Mutation SNP T T G rs111568648 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr17:21731075T>G ENST00000584755.1 + 2 774 c.377T>G c.(376-378)cTg>cGg p.L126R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L126R|UBBP4_ENST00000584398.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCTGGAAGATGGC 0.537000 3 65 0 0 0.115264 0 0 MUC16 94025 broad.mit.edu 37 19 9073897 9073897 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:9073897C>T ENST00000397910.4 - 3 13752 c.13549G>A c.(13549-13551)Gag>Aag p.E4517K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4519 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E4517K(2)|p.E150K(1) 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 GCCAGTATCTCATTTGATGGA 0.433000 34 49 0 0 0.840704 0 0 PKHD1 5314 broad.mit.edu 37 6 51512867 51512867 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr6:51512867G>A ENST00000371117.3 - 63 11635 c.11360C>T c.(11359-11361)tCa>tTa p.S3787L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3787 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CAGGGAAGCTGAAATTGTCCA 0.423000 21 65 0 0 0.693898 0 0 SLC22A24 283238 broad.mit.edu 37 11 62911066 62911066 + Silent SNP A A G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:62911066A>G ENST00000417740.1 - 1 627 c.186T>C c.(184-186)aaT>aaC p.N62N SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Silent_p.N62N NM_001136506.2 NP_001129978.2 solute carrier family 22, member 24 kidney(1)|stomach(1) 2 TCCCGGTATCATTGTCAGACA 0.522000 8 20 0 0 0.335167 0 0 CDK12 51755 broad.mit.edu 37 17 37665992 37665992 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr17:37665992C>T ENST00000447079.4 + 7 2677 c.2644C>T c.(2644-2646)Cgg>Tgg p.R882W CDK12_ENST00000430627.2_Missense_Mutation_p.R882W NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 882 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.R882R(1) NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TGGACTTGCTCGGCTCTATAA 0.348000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 41 72 0 0 0.870114 0 0 CORIN 10699 broad.mit.edu 37 4 47663875 47663875 + Splice_Site SNP T T C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr4:47663875T>C ENST00000273857.4 - 12 1589 c.e12-2 CORIN_ENST00000502252.1_Splice_Site|CORIN_ENST00000505909.1_Splice_Site|CORIN_ENST00000508498.1_Splice_Site|CORIN_ENST00000504584.1_Splice_Site NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 CACAATGCCCTAGATGAACAA 0.408000 4 17 0 0 0.217242 0 0 MAP2K1 5604 broad.mit.edu 37 15 66729162 66729162 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr15:66729162C>T ENST00000307102.5 + 3 901 c.370C>T c.(370-372)Ccg>Tcg p.P124S NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 124 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P124S(8) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 GTGCAACTCTCCGTACATCGT 0.507000 22 54 0 0 0.654019 0 0 CP 1356 broad.mit.edu 37 3 148924059 148924059 + Silent SNP C C T rs142503847 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:148924059C>T ENST00000264613.6 - 6 1366 c.1104G>A c.(1102-1104)ggG>ggA p.G368G NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 368 cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TAACATGCTTCCCACGGATAT 0.423000 59 53 0 0 0.870114 0 0 PTPRT 11122 broad.mit.edu 37 20 40877386 40877386 + Silent SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr20:40877386G>A ENST00000373198.3 - 15 2545 c.2310C>T c.(2308-2310)atC>atT p.I770I PTPRT_ENST00000373187.1_Silent_p.I751I|PTPRT_ENST00000373201.1_Silent_p.I751I|PTPRT_ENST00000373193.3_Silent_p.I751I|PTPRT_ENST00000356100.2_Silent_p.I770I|PTPRT_ENST00000373184.1_Silent_p.I751I|PTPRT_ENST00000373190.1_Silent_p.I751I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 751 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGAGGCCAGCGATCACGCCAG 0.552000 19 49 0 0 0.624587 0 0 EDNRA 1909 broad.mit.edu 37 4 148460990 148460990 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr4:148460990G>A ENST00000324300.5 + 6 1437 c.922G>A c.(922-924)Gtt>Att p.V308I EDNRA_ENST00000358556.4_Missense_Mutation_p.V199I|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000511804.1_Missense_Mutation_p.V83I|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Missense_Mutation_p.V199I NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 308 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) GGCAAAAACAGTTTTCTGCTT 0.363000 41 55 0 0 0.870114 0 0 TUBB8 347688 broad.mit.edu 37 10 93851 93851 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr10:93851C>T ENST00000447903.2 - 4 580 c.265G>A c.(265-267)Gac>Aac p.D89N TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.D161N|TUBB8_ENST00000332708.5_3'UTR Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 161 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) ATGATCCTGTCTGGGTACTCC 0.597000 33 75 0 0 0.870114 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518355 113518355 + Missense_Mutation SNP G G T rs35449651 byFrequency TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr7:113518355G>T ENST00000284601.3 - 4 2860 c.2792C>A c.(2791-2793)gCa>gAa p.A931E NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 931 A -> E (in NIDDM; dbSNP:rs35449651). 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 TACAGCAATTGCCTGCTCATT 0.378000 52 75 1.53582e-20 1.71207e-20 0.870114 1 0 MMRN1 22915 broad.mit.edu 37 4 90856722 90856722 + Missense_Mutation SNP A A G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr4:90856722A>G ENST00000394980.1 + 7 2210 c.1891A>G c.(1891-1893)Aag>Gag p.K631E MMRN1_ENST00000264790.2_Missense_Mutation_p.K631E|MMRN1_ENST00000508372.1_Missense_Mutation_p.K373E|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 631 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AATGGACAATAAGATGGACAA 0.363000 4 96 0 0 0.150653 0 0 DSG4 147409 broad.mit.edu 37 18 28991408 28991408 + Silent SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr18:28991408G>A ENST00000359747.4 + 14 2438 c.2409G>A c.(2407-2409)tcG>tcA p.S803S DSG4_ENST00000308128.4_Silent_p.S784S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 784 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GCTACTTCTCGGAGGTAATGC 0.473000 45 31 0 0 0.870114 0 0 RECK 8434 broad.mit.edu 37 9 36118962 36118962 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr9:36118962C>T ENST00000377966.3 + 18 3028 c.2462C>T c.(2461-2463)cCg>cTg p.P821L NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 821 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) ATCATCCCACCGGGTAGGCTG 0.557000 27 55 0 0 0.729181 0 0 PDS5B 23047 broad.mit.edu 37 13 33306319 33306319 + Silent SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr13:33306319G>A ENST00000315596.10 + 20 2391 c.2205G>A c.(2203-2205)gcG>gcA p.A735A NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 735 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding p.A735A(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GTATCCATGCGATATTTTCTA 0.313000 15 30 0 0 0.539581 0 0 FLG2 388698 broad.mit.edu 37 1 152328911 152328911 + Nonsense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:152328911G>A ENST00000388718.5 - 3 1423 c.1351C>T c.(1351-1353)Caa>Taa p.Q451* FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 451 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCACAAGTTTGACCTGAGCCA 0.478000 104 94 0 0 0.870114 0 0 CYP2D7 1564 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 4 28 0 0 0.184627 0 0 MYT1L 23040 broad.mit.edu 37 2 1926514 1926514 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:1926514C>T ENST00000399161.2 - 10 1774 c.1027G>A c.(1027-1029)Gag>Aag p.E343K MYT1L_ENST00000428368.2_Missense_Mutation_p.E343K NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 343 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGGTTGGTCTCACTGAGCTTC 0.557000 7 37 0 0 0.278610 0 0 SH3BP1 23616 broad.mit.edu 37 22 38041502 38041502 + Missense_Mutation SNP G G T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr22:38041502G>T ENST00000599616.1 + 8 717 c.717G>T c.(715-717)gaG>gaT p.E239D SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E303D|SH3BP1_ENST00000357436.4_Missense_Mutation_p.E303D|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.E303D Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 303 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) TGCTTTCTGAGGGCATGAAGG 0.647000 30 59 1.42033e-22 1.59641e-22 0.796494 1 0 SLC22A11 55867 broad.mit.edu 37 11 64338456 64338456 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:64338456C>T ENST00000301891.4 + 10 1969 c.1595C>T c.(1594-1596)tCa>tTa p.S532L SLC22A11_ENST00000377581.3_Missense_Mutation_p.S463L|SLC22A11_ENST00000377585.3_Missense_Mutation_p.S424L NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 532 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) TCTAGGAAATCAACAGCAGCC 0.512000 32 63 0 0 0.812448 0 0 PLCE1 51196 broad.mit.edu 37 10 95995871 95995871 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr10:95995871G>A ENST00000260766.3 + 7 3048 c.2414G>A c.(2413-2415)cGa>cAa p.R805Q PLCE1_ENST00000371380.2_Missense_Mutation_p.R805Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R497Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R497Q NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 805 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GATAAAAGCCGATGGCAGTAA 0.463000 9 4 0 0 0.361761 0 0 KCNQ1 3784 broad.mit.edu 37 11 2592606 2592606 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:2592606G>A ENST00000155840.5 + 4 764 c.656G>A c.(655-657)gGg>gAg p.G219E KCNQ1_ENST00000335475.5_Missense_Mutation_p.G92E NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 219 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) GGCTCCAAGGGGCAGGTGTTT 0.677000 30 63 0 0 0.788014 0 0 SLC1A7 6512 broad.mit.edu 37 1 53558324 53558324 + Silent SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:53558324G>A ENST00000371494.4 - 7 1060 c.933C>T c.(931-933)atC>atT p.I311I NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 311 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GCAGGGGCAGGATAAAGAGCC 0.597000 24 44 0 0 0.706142 0 0 KNG1 3827 broad.mit.edu 37 3 186459342 186459342 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:186459342C>T ENST00000265023.4 + 10 1369 c.1157C>T c.(1156-1158)tCa>tTa p.S386L KNG1_ENST00000447445.1_Missense_Mutation_p.S350L|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.S386L|RP11-573D15.8_ENST00000599314.1_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 386 blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) CCAGGTTTTTCACCTTTCCGA 0.383000 39 27 0 0 0.870114 0 0 LTBP2 4053 broad.mit.edu 37 14 74972782 74972782 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr14:74972782C>T ENST00000261978.4 - 28 4532 c.4146G>A c.(4144-4146)caG>caA p.Q1382Q LTBP2_ENST00000556690.1_Silent_p.Q1338Q NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1382 EGF-like 16; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGTGCCCCTCCTGGGCATCGT 0.627000 62 63 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179517255 179517255 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:179517255C>T ENST00000589042.1 - 202 39281 c.39057G>A c.(39055-39057)ccG>ccA p.P13019P TTN_ENST00000591111.1_Silent_p.P11512P|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.P10585P|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11373 Ig-like 86. 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) CAACTTCTTTCGGAGCCTCTG 0.373000 26 67 0 0 0.769981 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52865661 52865661 + RNA SNP C C A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr13:52865661C>A ENST00000451298.1 - 0 31 RP11-64P12.8_ENST00000606031.1_RNA AAGGATGACACAATTGAATGA 0.289000 9 39 0.000308642 0.000327932 0.479597 1 0 OSBPL9 114883 broad.mit.edu 37 1 52250221 52250221 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:52250221G>A ENST00000371710.3 + 20 2032 c.1850G>A c.(1849-1851)gGg>gAg p.G617E OSBPL9_ENST00000531828.1_Missense_Mutation_p.G434E|OSBPL9_ENST00000462759.1_Missense_Mutation_p.G421E|OSBPL9_ENST00000371714.1_Missense_Mutation_p.G586E|OSBPL9_ENST00000486942.1_Missense_Mutation_p.G421E|OSBPL9_ENST00000428468.1_Missense_Mutation_p.G599E|OSBPL9_ENST00000435686.2_Missense_Mutation_p.G434E|OSBPL9_ENST00000447887.1_Missense_Mutation_p.G609E|OSBPL9_ENST00000530544.1_Missense_Mutation_p.G518E|OSBPL9_ENST00000361556.5_Missense_Mutation_p.G489E|OSBPL9_ENST00000453295.1_Missense_Mutation_p.G582E|OSBPL9_ENST00000337809.4_Missense_Mutation_p.G604E NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 599 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 CCCTTCTATGGGGGCAAGAAG 0.403000 19 45 0 0 0.592651 0 0 OR13H1 347468 broad.mit.edu 37 X 130678233 130678233 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chrX:130678233C>T ENST00000338616.3 + 1 284 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TCTACTTCTTCCTTAGTAACC 0.433000 52 32 0 0 0.870114 0 0 GFRAL 389400 broad.mit.edu 37 6 55216368 55216368 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr6:55216368G>A ENST00000340465.2 + 5 774 c.688G>A c.(688-690)Gat>Aat p.D230N NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 230 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTGCCAAAATGATGAATTATG 0.423000 10 28 0 0 0.411799 0 0 MME 4311 broad.mit.edu 37 3 154861348 154861348 + Silent SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:154861348G>A ENST00000460393.1 + 13 1425 c.1305G>A c.(1303-1305)gaG>gaA p.E435E MME_ENST00000493237.1_Silent_p.E435E|MME_ENST00000462745.1_Silent_p.E435E|MME_ENST00000492661.1_Silent_p.E435E|MME_ENST00000360490.2_Silent_p.E435E NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 435 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTGCTGGAGAGAGTAAACATG 0.403000 28 112 0 0 0.812448 0 0 MYOM2 9172 broad.mit.edu 37 8 2017587 2017587 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:2017587C>T ENST00000262113.4 + 8 905 c.764C>T c.(763-765)cCa>cTa p.P255L MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 255 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GACGAGGAACCATTCCGTTCG 0.507000 121 42 0 0 0.870114 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121653532 121653532 + Missense_Mutation SNP T T A rs144360433 byFrequency TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr7:121653532T>A ENST00000393386.2 + 12 4843 c.4432T>A c.(4432-4434)Tct>Act p.S1478T PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1478 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 ATACTCACTATCTGAGAATTC 0.393000 56 61 0 0 0.870114 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643237 1643237 + Silent SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:1643237C>T ENST00000399682.1 - 1 131 c.87G>A c.(85-87)ggG>ggA p.G29G NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 29 keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) agccacagcccccacagccag 0.682000 3 75 0 0 0.115264 0 0 PCNXL3 399909 broad.mit.edu 37 11 65403166 65403166 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:65403166C>T ENST00000355703.3 + 32 5890 c.5351C>T c.(5350-5352)tCg>tTg p.S1784L NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1784 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 ATCTACGTGTCGCCTCTCACC 0.667000 6 9 0 0 0.248553 0 0 EML5 161436 broad.mit.edu 37 14 89093244 89093244 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr14:89093244C>T ENST00000554922.1 - 35 4926 c.4678G>A c.(4678-4680)Ggg>Agg p.G1560R EML5_ENST00000380664.5_Missense_Mutation_p.G1552R|EML5_ENST00000352093.5_Missense_Mutation_p.G1514R|EML5_ENST00000553320.1_5'UTR NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1552 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CTCAGTAGCCCTTTTTTGCTA 0.468000 30 34 0 0 0.750413 0 0 GABRB3 2562 broad.mit.edu 37 15 26806278 26806278 + Missense_Mutation SNP C C A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr15:26806278C>A ENST00000541819.2 - 9 1151 c.1049G>T c.(1048-1050)cGg>cTg p.R350L GABRB3_ENST00000299267.4_Missense_Mutation_p.R294L|GABRB3_ENST00000311550.5_Missense_Mutation_p.R294L|GABRB3_ENST00000545868.1_Missense_Mutation_p.R209L|GABRB3_ENST00000400188.3_Missense_Mutation_p.R223L P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 294 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.R294L(2)|p.R350L(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAAGGTCTCCCGAAGGTGGGT 0.478000 5 125 1.23904e-05 1.32685e-05 0.184627 1 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 5 204 0 0 0.248553 0 0 SNCAIP 9627 broad.mit.edu 37 5 121780306 121780306 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:121780306G>A ENST00000261367.7 + 10 3040 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K SNCAIP_ENST00000414317.2_Missense_Mutation_p.E93K|SNCAIP_ENST00000542191.1_Missense_Mutation_p.E49K|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E431K|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E538K|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E125K|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E491K|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 491 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CCACGCTGGGGAAAAGCCCTC 0.537000 52 53 0 0 0.870114 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77353946 77353946 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr16:77353946C>T ENST00000282849.5 - 16 2750 c.2332G>A c.(2332-2334)Gaa>Aaa p.E778K NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 778 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TCCTGGATTTCGATGCTTCGG 0.522000 18 40 0 0 0.608945 0 0 CHN1 1123 broad.mit.edu 37 2 175742832 175742832 + Silent SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:175742832G>A ENST00000409900.3 - 6 598 c.285C>T c.(283-285)ttC>ttT p.F95F CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Silent_p.F95F NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 95 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) AGTAGAGCCTGAAGTTTCTGG 0.383000 T TAF15 extraskeletal myxoid chondrosarcoma 17 10 0 0 0.624587 0 0 MGAM 8972 broad.mit.edu 37 7 141732710 141732710 + Splice_Site SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr7:141732710G>A ENST00000475668.2 + 14 1723 c.e14+1 MGAM_ENST00000549489.2_Splice_Site O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTCACTCCCAGTAAGTCTTGG 0.373000 14 20 0 0 0.539581 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963375 73963375 + Silent SNP G G T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chrX:73963375G>T ENST00000373468.1 - 3 1668 c.1017C>A c.(1015-1017)ccC>ccA p.P339P KIAA2022_ENST00000055682.5_Silent_p.P339P Q5QGS0 K2022_HUMAN KIAA2022 339 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TAAAGACGCTGGGAAAAAAGT 0.458000 39 22 3.61848e-18 4.00092e-18 0.834066 1 0 BPIFB3 359710 broad.mit.edu 37 20 31656749 31656749 + Silent SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr20:31656749G>A ENST00000375494.3 + 10 1119 c.1119G>A c.(1117-1119)ggG>ggA p.G373G NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 373 innate immune response cytoplasm|extracellular region lipid binding|protein binding TCCCTAAGGGGACCCCTGAAT 0.597000 26 66 0 0 0.740014 0 0 CCKBR 887 broad.mit.edu 37 11 6291015 6291015 + Missense_Mutation SNP A A T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:6291015A>T ENST00000525462.1 + 2 271 c.268A>T c.(268-270)Aat>Tat p.N90Y CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.N90Y|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525014.1_Missense_Mutation_p.N90Y P32239 GASR_HUMAN cholecystokinin B receptor 90 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GACTGTCACCAATGCCTTCCT 0.552000 50 117 0 0 0.870114 0 0 KCNA1 3736 broad.mit.edu 37 12 5021217 5021217 + Missense_Mutation SNP G G A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr12:5021217G>A ENST00000382545.3 + 2 1780 c.673G>A c.(673-675)Gaa>Aaa p.E225K KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 225 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTTCATCGTGGAAACGCTGTG 0.512000 42 14 0 0 0.847076 0 0 GOLGA6L2 283685 broad.mit.edu 37 15 23692317 23692317 + Silent SNP T T C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr15:23692317T>C ENST00000567107.1 - 1 64 c.12A>G c.(10-12)caA>caG p.Q4Q GOLGA6L2_ENST00000312015.5_Silent_p.Q4Q|GOLGA6L2_ENST00000345070.5_5'UTR golgin A6 family-like 2 breast(1)|endometrium(7) 8 GGAGGTGGGGTTGGGGCCACA 0.547000 12 39 0 0 0.520397 0 0 SPEF1 25876 broad.mit.edu 37 20 3759160 3759160 + Missense_Mutation SNP C C T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr20:3759160C>T ENST00000379756.3 - 6 671 c.511G>A c.(511-513)Gcg>Acg p.A171T SPEF1_ENST00000463490.1_5'UTR NM_015417.4 NP_056232.2 Q9Y4P9 SPEF1_HUMAN sperm flagellar 1 171 cilium axoneme|cytoplasm|cytoskeleton cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 CGGTTATACGCTGGAGGCCGA 0.672000 10 5 0 0 0.387290 0 0 LINC01250 101927554 broad.mit.edu 37 2 2910378 2910379 + RNA INS - - C rs72051156 by1000genomes TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:2910378_2910379insC ENST00000457478.1 - 0 594 ACAGCCGCCCACCCTACACCTT 0.639 2 4 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 3061736 3061738 + RNA DEL TGG TGG - TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:3061736_3061738delTGG ENST00000457478.1 - 0 438 gcaaagatgatggtggtggtggt 0.493 2 4 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 7 221 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475032 217475032 + RNA DEL A A - rs71401156 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:217475032delA ENST00000441803.1 + 0 195 ATTTTATTTCAAAAAAAAAAA 0.373 3 4 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88512305 88512305 + Frame_Shift_Del DEL T T - rs77980773 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr12:88512305delT ENST00000552810.1 - 17 2009 c.1666delA c.(1666-1668)ttfs p.I556fs CEP290_ENST00000309041.7_Frame_Shift_Del_p.I558fs|CEP290_ENST00000397838.3_5'UTR NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 556 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.I558fs*20(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 ATTTGACGAATTTTTTTTTTC 0.308 2 4 --- --- --- --- ZNF382 84911 broad.mit.edu 37 19 37117823 37117823 + Frame_Shift_Del DEL C C - TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:37117823delC ENST00000435416.1 + 3 2516 c.1021delC c.(1021-1023)atfs p.H341fs ZNF382_ENST00000292928.2_Frame_Shift_Del_p.H342fs|ZNF382_ENST00000423582.1_Frame_Shift_Del_p.H293fs|ZNF382_ENST00000439428.1_Frame_Shift_Del_p.H341fs Q96SR6 ZN382_HUMAN zinc finger protein 382 342 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CCTCACCCTTCATGAGAAAAC 0.448 95 46 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 7 722 --- --- --- --- RP1-288L1.4 0 broad.mit.edu 37 22 35111765 35111766 + RNA INS - - TCC rs141084398 by1000genomes TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr22:35111765_35111766insTCC ENST00000440858.1 - 0 64 cctctttctcttcctcctcctc 0.554 2 4 --- --- --- ---