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 KLK8 11202 broad.mit.edu 37 19 51499342 51499342 + Missense_Mutation SNP G G C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:51499342G>C ENST00000600767.1 - 7 1245 c.756C>G c.(754-756)atC>atG p.I252M CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000347619.4_Missense_Mutation_p.I111M|KLK8_ENST00000291726.7_Missense_Mutation_p.I252M|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000391806.2_Missense_Mutation_p.I297M O60259 KLK8_HUMAN kallikrein-related peptidase 8 252 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) TGATCTTCTTGATCCAGTCCA 0.522000 23 105 0 0 0.00395357 0 0 ZMYND10 51364 broad.mit.edu 37 3 50379244 50379244 + Missense_Mutation SNP C C G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr3:50379244C>G ENST00000231749.3 - 10 2390 c.1118G>C c.(1117-1119)cGa>cCa p.R373P ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'UTR|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R368P NM_015896.2 NP_056980.2 O75800 ZMY10_HUMAN zinc finger, MYND-type containing 10 373 cytoplasm protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GCCTTACCTTCGCGCCTGCAG 0.632000 TSP Lung(30;0.18) 10 24 0 0 0.000673444 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148944547 148944547 + Missense_Mutation SNP G G A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr4:148944547G>A ENST00000336498.3 + 19 2089 c.1850G>A c.(1849-1851)tGt>tAt p.C617Y ARHGAP10_ENST00000414545.2_Missense_Mutation_p.C266Y NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 617 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TACAATCTTTGTCTGGAGCTG 0.507000 13 30 0 0 0.00316338 0 0 CIC 23152 broad.mit.edu 37 19 42793213 42793213 + Missense_Mutation SNP G G A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:42793213G>A ENST00000572681.2 + 8 3900 c.3832G>A c.(3832-3834)Gac>Aac p.D1278N CIC_ENST00000160740.3_Missense_Mutation_p.D369N|CIC_ENST00000575354.2_Missense_Mutation_p.D369N Q96RK0 CIC_HUMAN capicua transcriptional repressor 369 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CGGAGAAGTAGACAGTCAGGC 0.667000 """Mis, F, S""" oligodendroglioma 14 58 0 0 0.00244969 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39191032 39191032 + Silent SNP G G A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr17:39191032G>A ENST00000344363.5 - 1 75 c.42C>T c.(40-42)tgC>tgT p.C14C NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 14 extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CACTGGTGGAGCAGCTGGGAT 0.577000 14 55 0 0 0.00185496 0 0 LST3 0 broad.mit.edu 37 12 21205150 21205150 + Silent SNP T T G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr12:21205150T>G ENST00000381541.3 + 10 1517 c.1452T>G c.(1450-1452)ccT>ccG p.P484P SLCO1B7_ENST00000421593.2_Silent_p.P437P|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.P484P|SLCO1B3_ENST00000553473.1_Intron ACCTGTCACCTTGTCTAGCAG 0.373000 8 212 0 0 0.000274275 0 0 CECR6 27439 broad.mit.edu 37 22 17600670 17600670 + Missense_Mutation SNP C C T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr22:17600670C>T ENST00000331437.3 - 1 1473 c.1348G>A c.(1348-1350)Gcc>Acc p.A450T CECR6_ENST00000399875.1_Missense_Mutation_p.A95T NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 450 Poly-Ala. haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) GCCGCTGCGGCCGCGGCGTTG 0.731000 3 2 0 0 6.4e-05 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44218202 44218202 + Missense_Mutation SNP A A G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr6:44218202A>G ENST00000371554.1 + 6 1037 c.823A>G c.(823-825)Aaa>Gaa p.K275E HSP90AB1_ENST00000353801.3_Missense_Mutation_p.K275E|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.K275E P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 275 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) gatcaaagagaaATACATTGA 0.403000 8 34 0 0 0.00307968 0 0 XIST 7503 broad.mit.edu 37 X 73062205 73062205 + RNA SNP A A T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chrX:73062205A>T ENST00000429829.1 - 0 10383 NR_001564.2 AAAATAAAGGATGGCAATCCA 0.458000 3 5 0 0 0.00024832 0 0 MALAT1 378938 broad.mit.edu 37 11 65265689 65265689 + RNA SNP A A T rs137885794 by1000genomes TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr11:65265689A>T ENST00000534336.1 + 0 457 AP000769.7_ENST00000602344.1_lincRNA NR_002819.2 CCATTCGCTTAGTTGGTCTAC 0.488000 10 23 0 0 0.000673444 0 0 HGF 3082 broad.mit.edu 37 7 81346642 81346642 + Missense_Mutation SNP C C G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr7:81346642C>G ENST00000222390.5 - 11 1537 c.1311G>C c.(1309-1311)gaG>gaC p.E437D HGF_ENST00000457544.2_Missense_Mutation_p.E432D NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 437 Kringle 4. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GGCAGTAATTCTCATTCAGCT 0.443000 11 38 0 0 0.000673444 0 0 DNAH17 8632 broad.mit.edu 37 17 76498698 76498698 + Missense_Mutation SNP G G A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr17:76498698G>A ENST00000389840.5 - 33 5256 c.5132C>T c.(5131-5133)gCt>gTt p.A1711V DNAH17_ENST00000585328.1_Missense_Mutation_p.A1719V|DNAH17-AS1_ENST00000598378.1_3'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATCTCTGATAGCGTTTTCATA 0.478000 8 10 0 0 0.00307968 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 5 5 0 0 0.000602214 0 0 FAT4 79633 broad.mit.edu 37 4 126239466 126239466 + Missense_Mutation SNP C C G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr4:126239466C>G ENST00000394329.3 + 1 1913 c.1900C>G c.(1900-1902)Ctg>Gtg p.L634V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 634 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTCCTTCCGTCTGGATCCTGT 0.557000 9 21 0 0 0.000274275 0 0 KLK8 11202 broad.mit.edu 37 19 51499375 51499375 + Silent SNP G G C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:51499375G>C ENST00000600767.1 - 7 1212 c.723C>G c.(721-723)gtC>gtG p.V241V CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000347619.4_Silent_p.V100V|KLK8_ENST00000291726.7_Silent_p.V241V|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000391806.2_Silent_p.V286V O60259 KLK8_HUMAN kallikrein-related peptidase 8 241 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) TGTTGGTATAGACGCCAGGTT 0.537000 20 74 0 0 0.00188189 0 0 VRK3 51231 broad.mit.edu 37 19 50498123 50498123 + Missense_Mutation SNP C C T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:50498123C>T ENST00000599538.1 - 9 1482 c.818G>A c.(817-819)aGc>aAc p.S273N VRK3_ENST00000594092.1_Missense_Mutation_p.S273N|VRK3_ENST00000594948.1_Missense_Mutation_p.S273N|VRK3_ENST00000377011.2_Missense_Mutation_p.S223N|VRK3_ENST00000316763.3_Missense_Mutation_p.S273N|VRK3_ENST00000443401.2_Missense_Mutation_p.S42N|VRK3_ENST00000601912.1_Missense_Mutation_p.S223N|VRK3_ENST00000601341.1_Missense_Mutation_p.S223N|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.S273N Q8IV63 VRK3_HUMAN vaccinia related kinase 3 273 Protein kinase. nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) ATGCTTTGGGCTGACATCCAG 0.617000 10 14 0 0 0.000673444 0 0 PDE2A 5138 broad.mit.edu 37 11 72293497 72293497 + Missense_Mutation SNP G G C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr11:72293497G>C ENST00000334456.5 - 21 2087 c.1842C>G c.(1840-1842)gaC>gaG p.D614E PDE2A_ENST00000544570.1_Missense_Mutation_p.D607E|PDE2A_ENST00000444035.2_Missense_Mutation_p.D605E|PDE2A_ENST00000418754.2_Missense_Mutation_p.D499E|PDE2A_ENST00000376450.3_Missense_Mutation_p.D358E|PDE2A_ENST00000540345.1_Missense_Mutation_p.D605E NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 614 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CCATGGACGTGTCATCCTCGG 0.512000 31 129 0 0 0.00209593 0 0 KCTD20 222658 broad.mit.edu 37 6 36446928 36446928 + Missense_Mutation SNP C C A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr6:36446928C>A ENST00000373731.2 + 4 856 c.465C>A c.(463-465)ttC>ttA p.F155L KCTD20_ENST00000536244.1_Missense_Mutation_p.F10L|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_5'UTR NM_173562.3 NP_775833.2 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerization domain containing 20 155 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1) 15 AGTACAACTTCACTCGGCCCA 0.433000 22 41 7.33532e-06 9.55259e-05 0.00395357 1 0 VRK3 51231 broad.mit.edu 37 19 50496177 50496177 + Missense_Mutation SNP C C G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:50496177C>G ENST00000599538.1 - 10 1567 c.903G>C c.(901-903)gaG>gaC p.E301D VRK3_ENST00000594092.1_Missense_Mutation_p.E301D|VRK3_ENST00000594948.1_Missense_Mutation_p.E301D|VRK3_ENST00000377011.2_Missense_Mutation_p.E251D|VRK3_ENST00000316763.3_Missense_Mutation_p.E301D|VRK3_ENST00000443401.2_Missense_Mutation_p.E70D|VRK3_ENST00000601912.1_Missense_Mutation_p.E251D|VRK3_ENST00000601341.1_Missense_Mutation_p.E251D|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.E301D Q8IV63 VRK3_HUMAN vaccinia related kinase 3 301 Protein kinase. nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) CATGAACATACTCATTCTCAT 0.512000 21 73 0 0 0.00152264 0 0 WBP11 51729 broad.mit.edu 37 12 14947999 14947999 + Missense_Mutation SNP C C T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr12:14947999C>T ENST00000261167.2 - 6 660 c.427G>A c.(427-429)Gat>Aat p.D143N WBP11_ENST00000537574.1_Missense_Mutation_p.D143N NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 143 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 TGTGGCATATCTGGCAAAGGA 0.428000 19 220 0 0 0.00074312 0 0 FAT4 79633 broad.mit.edu 37 4 126412858 126412858 + Missense_Mutation SNP G G A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr4:126412858G>A ENST00000394329.3 + 17 14894 c.14881G>A c.(14881-14883)Gaa>Aaa p.E4961K FAT4_ENST00000335110.5_Missense_Mutation_p.E3202K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4961 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGCAGCAAATGAAGAAGGCAA 0.408000 7 10 0 0 0.00198382 0 0 KLK8 11202 broad.mit.edu 37 19 51499431 51499431 + Nonsense_Mutation SNP G G A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:51499431G>A ENST00000600767.1 - 7 1156 c.667C>T c.(667-669)Cag>Tag p.Q223* CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000347619.4_Nonsense_Mutation_p.Q82*|KLK8_ENST00000291726.7_Nonsense_Mutation_p.Q223*|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000391806.2_Nonsense_Mutation_p.Q268* O60259 KLK8_HUMAN kallikrein-related peptidase 8 223 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) GTGATGCCCTGGAGTGCACCA 0.562000 13 53 0 0 0.00244969 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58022613 58022613 + Silent SNP G G C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr12:58022613G>C ENST00000341156.4 - 8 1469 c.885C>G c.(883-885)ctC>ctG p.L295L B4GALNT1_ENST00000418555.2_Silent_p.L240L|B4GALNT1_ENST00000449184.3_Silent_p.L262L NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 295 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TACTGGTGATGAGAGCCCGTA 0.577000 29 162 0 0 0.00127121 0 0 IL17RD 54756 broad.mit.edu 37 3 57132135 57132135 + Missense_Mutation SNP G G T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr3:57132135G>T ENST00000296318.7 - 12 1684 c.1596C>A c.(1594-1596)aaC>aaA p.N532K IL17RD_ENST00000320057.5_Missense_Mutation_p.N388K|IL17RD_ENST00000463523.1_Missense_Mutation_p.N388K|IL17RD_ENST00000427856.2_Missense_Mutation_p.N508K NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 532 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) TCCGGAAGTAGTTCCTTCTGC 0.577000 6 22 0.000157383 0.00196045 0.00307968 1 0 ALPK2 115701 broad.mit.edu 37 18 56202520 56202520 + Silent SNP C C T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr18:56202520C>T ENST00000361673.3 - 5 5112 c.4899G>A c.(4897-4899)gaG>gaA p.E1633E NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1633 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTTGAAGCACCTCTATTTTAG 0.448000 28 43 0 0 0.000720815 0 0 WIPI2 26100 broad.mit.edu 37 7 5270477 5270477 + Missense_Mutation SNP G G C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr7:5270477G>C ENST00000288828.4 + 13 1496 c.1264G>C c.(1264-1266)Gac>Cac p.D422H WIPI2_ENST00000382384.2_Missense_Mutation_p.D393H|WIPI2_ENST00000401525.3_Missense_Mutation_p.D404H|WIPI2_ENST00000484262.1_Missense_Mutation_p.D352H|WIPI2_ENST00000404704.3_Missense_Mutation_p.D411H NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 422 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) CTACACAGACGACCTGGGTGC 0.607000 11 39 0 0 0.000978159 0 0 NDST1 3340 broad.mit.edu 37 5 149900988 149900988 + Missense_Mutation SNP G G T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr5:149900988G>T ENST00000261797.6 + 2 674 c.172G>T c.(172-174)Gac>Tac p.D58Y NDST1_ENST00000523767.1_Missense_Mutation_p.D58Y NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 58 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGACTGCGGGGACCCGCCGCC 0.652000 12 40 5.50884e-06 7.34085e-05 0.00136819 1 0 ZNF45 7596 broad.mit.edu 37 19 44423036 44423036 + Missense_Mutation SNP C C G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:44423036C>G ENST00000269973.5 - 9 1311 c.221G>C c.(220-222)aGa>aCa p.R74T RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.R74T NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 74 KRAB. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 GGAGTTATCTCTCTGGGTTGC 0.493000 11 36 0 0 0.00185496 0 0 EIF3G 8666 broad.mit.edu 37 19 10226237 10226237 + Missense_Mutation SNP G G A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:10226237G>A ENST00000253108.4 - 10 907 c.865C>T c.(865-867)Cgc>Tgc p.R289C NM_003755.3 NP_003746.2 O75821 EIF3G_HUMAN eukaryotic translation initiation factor 3, subunit G 289 RRM. cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity central_nervous_system(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) TCCTCGCGGCGGTGGAAGCTG 0.642000 11 39 0 0 0.000978159 0 0 PPP6R2 9701 broad.mit.edu 37 22 50869699 50869699 + Missense_Mutation SNP C C A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr22:50869699C>A ENST00000359139.3 + 11 1617 c.1223C>A c.(1222-1224)aCa>aAa p.T408K PPP6R2_ENST00000395744.3_Missense_Mutation_p.T408K|PPP6R2_ENST00000216061.5_Missense_Mutation_p.T408K|PPP6R2_ENST00000395741.3_Missense_Mutation_p.T409K NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 408 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GAGGAGAGGACAGAAGCCAGC 0.577000 14 75 1.05317e-09 1.47187e-08 0.00244969 1 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 5 48 0 0 0.00116845 0 0 KRT23 25984 broad.mit.edu 37 17 39092616 39092616 + Silent SNP G G A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr17:39092616G>A ENST00000209718.3 - 2 664 c.240C>T c.(238-240)aaC>aaT p.N80N KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 80 Coil 1A.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) CCAGGCGGTCGTTGAGATTCT 0.612000 43 63 0 0 0.00361006 0 0 TSPAN11 441631 broad.mit.edu 37 12 31144797 31144797 + Missense_Mutation SNP G G T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr12:31144797G>T ENST00000261177.9 + 8 768 c.709G>T c.(709-711)Ggg>Tgg p.G237W TSPAN11_ENST00000544427.1_Missense_Mutation_p.G227W|TSPAN11_ENST00000546076.1_Missense_Mutation_p.G237W|TSPAN11_ENST00000535215.1_Missense_Mutation_p.G166W NM_001080509.2 NP_001073978.1 A1L157 TSN11_HUMAN tetraspanin 11 237 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2) 11 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GCAGATCTGCGGGATGGTTCT 0.572000 5 111 3.59834e-05 0.000458188 0.00116845 1 0 NSUN3 63899 broad.mit.edu 37 3 93781971 93781971 + Translation_Start_Site SNP A A G TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr3:93781971A>G ENST00000314622.4 + 1 212 c.1A>G c.(1-3)Atg>Gtg p.M1V DHFRL1_ENST00000394221.2_5'UTR|NSUN3_ENST00000485793.1_3'UTR NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 1 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 CAGCGGGACAATGCTGACCCA 0.582000 71 93 0 0 0.00361006 0 0 FLG2 388698 broad.mit.edu 37 1 152325088 152325088 + Missense_Mutation SNP C C T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr1:152325088C>T ENST00000388718.5 - 3 5246 c.5174G>A c.(5173-5175)gGa>gAa p.G1725E FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1725 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) GTGGCCAGATCCCCTTCTTCC 0.498000 55 154 0 0 0.00361006 0 0 SPTBN4 57731 broad.mit.edu 37 19 41003437 41003437 + Missense_Mutation SNP C C T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:41003437C>T ENST00000352632.3 + 7 796 c.710C>T c.(709-711)gCc>gTc p.A237V SPTBN4_ENST00000598249.1_Missense_Mutation_p.A237V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A237V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A237V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A237V Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 237 Actin-binding.|CH 2. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AAGTCCAATGCCAACTACAAC 0.657000 13 62 0 0 0.00244969 0 0 SYNJ1 8867 broad.mit.edu 37 21 34037380 34037380 + Splice_Site SNP C C A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr21:34037380C>A ENST00000382499.2 - 18 2263 c.2262_splice c.e18-1 p.G755_splice SYNJ1_ENST00000382491.3_Splice_Site_p.G711_splice|SYNJ1_ENST00000357345.3_Splice_Site_p.G716_splice|SYNJ1_ENST00000433931.2_Splice_Site_p.G755_splice|SYNJ1_ENST00000322229.7_Splice_Site_p.G716_splice NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 716 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TAGCATCCTTCCCTGAAAGCA 0.353000 12 15 2.27111e-07 3.09844e-06 0.00136819 1 0 RPA2 6118 broad.mit.edu 37 1 28233446 28233446 + Missense_Mutation SNP T T C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr1:28233446T>C ENST00000373912.3 - 4 625 c.326A>G c.(325-327)gAc>gGc p.D109G RPA2_ENST00000373909.3_Missense_Mutation_p.D117G|RPA2_ENST00000313433.7_Missense_Mutation_p.D197G NM_002946.3 NP_002937.1 P15927 RFA2_HUMAN replication protein A2, 32kDa 109 Asp/Glu-rich (acidic). cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|PML body protein phosphatase binding|single-stranded DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1) 11 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649) TACATCTGTGTCAACCCACTG 0.393000 Direct reversal of damage;Nucleotide excision repair (NER) 4 26 0 0 0.00024832 0 0 ZNF45 7596 broad.mit.edu 37 19 44419091 44419091 + Missense_Mutation SNP C C T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr19:44419091C>T ENST00000269973.5 - 10 1587 c.497G>A c.(496-498)gGa>gAa p.G166E RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.G166E NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 166 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 ACAATGTTCTCCTTTGTAGGG 0.398000 18 49 0 0 0.000958276 0 0 DSCAM 1826 broad.mit.edu 37 21 41455872 41455872 + Silent SNP A A C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr21:41455872A>C ENST00000400454.1 - 24 4671 c.4194T>G c.(4192-4194)tcT>tcG p.S1398S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1398 Fibronectin type-III 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAGGGAGCCAAGAAAGGGTGA 0.443000 9 35 0 0 0.000673444 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325354 47325354 + RNA SNP G G A rs4660360 by1000genomes TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr1:47325354G>A ENST00000505841.1 - 0 1175 NR_002788.2 CATCTGGAAAGGTAATGGGTT 0.438000 7 66 0 0 0.000673444 0 0 PCNX 22990 broad.mit.edu 37 14 71572021 71572021 + Silent SNP G G T TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr14:71572021G>T ENST00000304743.2 + 33 6611 c.6165G>T c.(6163-6165)ggG>ggT p.G2055G PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Silent_p.G1983G|PCNX_ENST00000439984.3_Silent_p.G1944G NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 2055 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CTGGAGGTGGGACTTCCTGCA 0.493000 23 17 4.54149e-19 6.50568e-18 0.00229938 1 0 CEP350 9857 broad.mit.edu 37 1 179955328 179955329 + Frame_Shift_Ins INS - - A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr1:179955328_179955329insA ENST00000367607.3 + 2 430_431 c.12_13insA c.(10-15)agaatcfs p.I5fs NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 5 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TGAGGAGCAGCAAATCAAAAGA 0.322 2 4 --- --- --- --- DZIP1L 199221 broad.mit.edu 37 3 137783520 137783521 + Frame_Shift_Ins INS - - A TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr3:137783520_137783521insA ENST00000327532.2 - 15 2453_2454 c.2091_2092insT c.(2089-2094)tttgccfs p.A698fs NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 698 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GCATTGGGCATAAAAAACAGAC 0.515 78 295 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 3 3 --- --- --- --- CD44 960 broad.mit.edu 37 11 35222633 35222634 + Frame_Shift_Ins INS - - ACCAC TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr11:35222633_35222634insACCAC ENST00000428726.2 + 8 1050_1051 c.927_928insACCAC c.(925-930)tcccacfs p.H310fs CD44_ENST00000415148.2_Frame_Shift_Ins_p.H267fs|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Frame_Shift_Ins_p.H310fs|CD44_ENST00000437706.2_Frame_Shift_Ins_p.H310fs|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000433354.2_Frame_Shift_Ins_p.H310fs NM_000610.3 NP_000601.3 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 310 Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) TCACAGTTTCAACCACACCACG 0.455 12 105 --- --- --- --- TRAV24 28659 broad.mit.edu 37 14 22573825 22573826 + RNA INS - - A rs33991650 by1000genomes TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr14:22573825_22573826insA ENST00000390453.1 + 0 55 GACTCTTTTTTAAAAAAACAGG 0.450 7 9 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 287a6ff8-a2e4-4d46-874a-46cc88cb5e12 45cc5a5b-c98c-4fbd-ab95-eb1b51ebd565 g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 3 6 --- --- --- ---