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 TSC22D1 8848 broad.mit.edu 37 13 45008991 45008991 + Missense_Mutation SNP G G A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr13:45008991G>A ENST00000458659.2 - 3 3483 c.2993C>T c.(2992-2994)gCg>gTg p.A998V TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Missense_Mutation_p.A69V NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 998 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TTCTCTGACCGCATACATCAA 0.403000 4 157 0 0 1 0 0 KRBA2 124751 broad.mit.edu 37 17 8273090 8273090 + Missense_Mutation SNP T T C TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr17:8273090T>C ENST00000396267.1 - 2 1426 c.595A>G c.(595-597)Att>Gtt p.I199V RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000331336.2_Missense_Mutation_p.I281V|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 281 DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18 TAGTATAAAATGAACTTGAAC 0.423000 46 51 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001329 52001329 + Missense_Mutation SNP T T A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr19:52001329T>A ENST00000291707.3 - 5 1403 c.1348A>T c.(1348-1350)Aac>Tac p.N450Y SIGLEC12_ENST00000598614.1_Missense_Mutation_p.N332Y NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 450 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCTAGAGGGTTCTGAGCTCGG 0.592000 20 53 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 6 127 0 0 1 0 0 HOXD12 3238 broad.mit.edu 37 2 176964709 176964709 + Silent SNP C C A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr2:176964709C>A ENST00000406506.2 + 1 252 c.180C>A c.(178-180)ccC>ccA p.P60P HOXD12_ENST00000404162.2_Silent_p.P60P P35452 HXD12_HUMAN homeobox D12 60 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) CCTGCGCCCCCGCGCAGCCTG 0.751000 3 45 0.014758 0.0163115 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 6 24 0 0 1 0 0 LUZP4 51213 broad.mit.edu 37 X 114537972 114537972 + Missense_Mutation SNP T T G TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chrX:114537972T>G ENST00000371920.3 + 3 338 c.331T>G c.(331-333)Tta>Gta p.L111V LUZP4_ENST00000451986.2_Intron NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 111 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 TGGGCAGCCTTTAATTGAGCA 0.318000 5 208 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24860393 24860393 + Missense_Mutation SNP G G T TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr13:24860393G>T ENST00000424834.2 + 8 2816 c.2343G>T c.(2341-2343)tgG>tgT p.W781C SPATA13_ENST00000409126.1_Missense_Mutation_p.W78C|SPATA13_ENST00000343003.6_Missense_Mutation_p.W100C|SPATA13_ENST00000382095.4_Missense_Mutation_p.W156C|SPATA13_ENST00000399949.2_Missense_Mutation_p.W78C|SPATA13_ENST00000382108.3_Missense_Mutation_p.W781C Q96N96 SPT13_HUMAN spermatogenesis associated 13 156 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) AAGCCCTGTGGGACCATGTGA 0.602000 65 94 1.1794e-34 1.50106e-34 1 1 0 SLC2A11 66035 broad.mit.edu 37 22 24210757 24210757 + Silent SNP C C A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr22:24210757C>A ENST00000345044.6 + 3 478 c.210C>A c.(208-210)atC>atA p.I70I SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000316185.8_Silent_p.I73I|AP000350.10_ENST00000433835.3_Silent_p.I35I|SLC2A11_ENST00000405847.1_Silent_p.I70I|SLC2A11_ENST00000403208.3_Silent_p.I70I|SLC2A11_ENST00000398356.2_Silent_p.I77I Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 70 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 GGTCCCTCATCGTGTCTCTGT 0.562000 4 114 0.150653 0.150653 1 1 0 DRD5 0 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T T C rs2227841 byFrequency TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr4:9784028T>C ENST00000304374.2 + 1 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 5 73 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107783004 107783004 + Missense_Mutation SNP A A T TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chrX:107783004A>T ENST00000328300.6 + 2 354 c.110A>T c.(109-111)aAg>aTg p.K37M COL4A5_ENST00000361603.2_Missense_Mutation_p.K37M NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 37 Nonhelical region (NC2). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCAGGATCAAAGTGTGACTGC 0.353000 Alport syndrome with Diffuse Leiomyomatosis 5 168 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 58270678 58270678 + Missense_Mutation SNP G G A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr5:58270678G>A ENST00000340635.6 - 15 2418 c.2243C>T c.(2242-2244)aCg>aTg p.T748M PDE4D_ENST00000358923.6_Missense_Mutation_p.T446M|PDE4D_ENST00000507116.1_Missense_Mutation_p.T684M|PDE4D_ENST00000546160.1_Missense_Mutation_p.T687M|PDE4D_ENST00000317118.8_Missense_Mutation_p.T457M|PDE4D_ENST00000405755.2_Missense_Mutation_p.T626M|PDE4D_ENST00000360047.5_Missense_Mutation_p.T612M|PDE4D_ENST00000503258.1_Missense_Mutation_p.T618M|PDE4D_ENST00000502484.2_Missense_Mutation_p.T687M NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 748 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GTCCTTTTCCGTGTCTGACTC 0.493000 5 352 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 6 297 0.0293803 0.0316404 1 1 0 CXorf40B 541578 broad.mit.edu 37 X 149101910 149101910 + Silent SNP G G T rs139086529 byFrequency TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chrX:149101910G>T ENST00000370406.3 - 4 1011 c.183C>A c.(181-183)ctC>ctA p.L61L CXorf40B_ENST00000370404.1_Silent_p.L61L|CXorf40B_ENST00000355203.2_Silent_p.L61L|CXorf40B_ENST00000462691.1_Silent_p.L61L Q96DE9 CX04B_HUMAN chromosome X open reading frame 40B 61 endometrium(1)|lung(4) 5 Acute lymphoblastic leukemia(192;6.56e-05) GAGTCATCCCGAGTCTCTCCA 0.567000 15 269 0.000422831 0.000479971 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168104097 168104097 + Missense_Mutation SNP G G T TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr2:168104097G>T ENST00000409195.1 + 9 6284 c.6195G>T c.(6193-6195)tgG>tgT p.W2065C XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.W2065C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.W1843C|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1890 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CGGGTGTCTGGACTGATACTA 0.358000 4 60 1.23904e-05 1.48685e-05 1 1 0 TYMP 1890 broad.mit.edu 37 22 50967924 50967924 + Splice_Site SNP C C G TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr22:50967924C>G ENST00000252029.3 - 2 377 c.e2+1 TYMP_ENST00000395678.3_Splice_Site|TYMP_ENST00000395680.1_Splice_Site|TYMP_ENST00000395681.1_Splice_Site NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4 NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1 P19971 TYPH_HUMAN thymidine phosphorylase angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity large_intestine(1)|lung(2)|ovary(1)|prostate(1) 5 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675) TCCCCACGCACCGATCTGTGC 0.687000 4 139 0 0 1 0 0 JAK2 3717 broad.mit.edu 37 9 5044449 5044449 + Missense_Mutation SNP C C T TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr9:5044449C>T ENST00000381652.3 + 5 891 c.397C>T c.(397-399)Cgg>Tgg p.R133W JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Missense_Mutation_p.R133W NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 133 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) CAGAGCCTATCGGCATGGAAT 0.383000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 26 43 0 0 1 0 0 RHBDD3 25807 broad.mit.edu 37 22 29660060 29660060 + Missense_Mutation SNP G G T TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr22:29660060G>T ENST00000216085.7 - 4 720 c.296C>A c.(295-297)gCt>gAt p.A99D NM_012265.1 NP_036397.1 Q9Y3P4 RHBD3_HUMAN rhomboid domain containing 3 99 integral to membrane serine-type endopeptidase activity lung(1)|ovary(1) 2 CAGCCCAGAAGCCAGGGCGAG 0.672000 3 13 6.4e-05 7.46667e-05 1 1 0 ADAMTS19 171019 broad.mit.edu 37 5 128844806 128844806 + Missense_Mutation SNP A A T TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr5:128844806A>T ENST00000274487.4 + 3 911 c.766A>T c.(766-768)Att>Ttt p.I256F CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 256 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CTTCATATTTATTGAGCCACT 0.358000 5 47 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129159215 129159215 + Missense_Mutation SNP C C A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chrX:129159215C>A ENST00000540052.1 + 6 3983 c.3939C>A c.(3937-3939)gaC>gaA p.D1313E BCORL1_ENST00000218147.7_Missense_Mutation_p.D1313E|BCORL1_ENST00000303743.5_Missense_Mutation_p.D1313E|BCORL1_ENST00000359304.2_Intron NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1313 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 AAATGTGGGACACCAATgagg 0.587000 4 91 0.150653 0.150653 1 1 0 ZFYVE20 64145 broad.mit.edu 37 3 15115677 15115677 + Missense_Mutation SNP C C T rs147577833 byFrequency TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr3:15115677C>T ENST00000253699.3 - 14 2580 c.1967G>A c.(1966-1968)cGc>cAc p.R656H ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 656 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. 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 TTTCAGGATGCGGGCTGAAGG 0.562000 4 245 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212267 26212267 + Missense_Mutation SNP G G A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chrX:26212267G>A ENST00000379034.1 + 2 453 c.304G>A c.(304-306)Gtt>Att p.V102I NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 102 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TGATGCCTCCGTTCCTCAGGA 0.522000 10 175 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr6:29977327T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 5 91 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39463842 39463842 + Missense_Mutation SNP C C A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr8:39463842C>A ENST00000265707.5 + 3 194 c.149C>A c.(148-150)aCa>aAa p.T50K ADAM18_ENST00000520772.1_Missense_Mutation_p.T50K|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.T50K NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 50 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TACATCATTACAATTGATGGA 0.269000 6 18 0.0381472 0.0400546 1 1 0 SIRPA 140885 broad.mit.edu 37 20 1902292 1902292 + Missense_Mutation SNP G G A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr20:1902292G>A ENST00000358771.4 + 3 840 c.688G>A c.(688-690)Gtg>Atg p.V230M SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 230 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V230M(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CATCTGCGAGGTGGCCCACGT 0.612000 4 103 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378296 16378296 + Silent SNP A A C TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr1:16378296A>C ENST00000375679.4 + 14 1500 c.1389A>C c.(1387-1389)ccA>ccC p.P463P CLCNKB_ENST00000375667.3_Silent_p.P294P NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCATCATGCCAGGGGGGTATG 0.622000 5 102 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 4 110 0 0 1 0 0 PGM1 5236 broad.mit.edu 37 1 64114306 64114306 + Silent SNP C C T TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr1:64114306C>T ENST00000371083.4 + 8 1685 c.1317C>T c.(1315-1317)ggC>ggT p.G439G PGM1_ENST00000540265.1_Silent_p.G224G|PGM1_ENST00000371084.3_Silent_p.G421G NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 421 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 AAAAGTATGGCCGGAATTTCT 0.547000 32 45 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902301 1902301 + Missense_Mutation SNP G G A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr20:1902301G>A ENST00000358771.4 + 3 849 c.697G>A c.(697-699)Gtc>Atc p.V233I SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 233 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V233I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGTGGCCCACGTCACCTTGCA 0.617000 4 109 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 5 89 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57570840 57570840 + Silent SNP G G A TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr12:57570840G>A ENST00000243077.3 + 25 4474 c.4008G>A c.(4006-4008)gaG>gaA p.E1336E NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1336 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTAGTTTCGAGGTGGTGATTC 0.562000 42 98 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35946585 35946585 + Missense_Mutation SNP G G A rs143289977 TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr17:35946585G>A ENST00000339208.6 - 4 453 c.313C>T c.(313-315)Cgt>Tgt p.R105C SYNRG_ENST00000585472.1_Missense_Mutation_p.R104C|SYNRG_ENST00000502449.2_Missense_Mutation_p.R105C|SYNRG_ENST00000346661.4_Missense_Mutation_p.R105C|SYNRG_ENST00000394378.2_Missense_Mutation_p.R105C|SYNRG_ENST00000345615.4_Missense_Mutation_p.R105C|SYNRG_ENST00000591288.1_Missense_Mutation_p.R105C NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 105 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCTGGAGGACGCATGCCCAGG 0.478000 4 121 0 0 1 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 7 141 --- --- --- --- SATB1 6304 broad.mit.edu 37 3 18391133 18391135 + In_Frame_Del DEL CTG CTG - TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr3:18391133_18391135delCTG ENST00000338745.6 - 11 3553_3555 c.1819_1821delCAG c.(1819-1821)del p.Q607del TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 607 Poly-Gln. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GCGGCGGTGCctgctgctgctgc 0.606 8 38 --- --- --- --- PDS5A 23244 broad.mit.edu 37 4 39899982 39899982 + Frame_Shift_Del DEL A A - TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr4:39899982delA ENST00000503396.1 - 16 2336 c.1797delT c.(1795-1797)ttfs p.F599fs PDS5A_ENST00000303538.8_Intron NM_001100400.1 NP_001093870.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 0 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 AAAGCTAGAGAAAAAGTGTGA 0.323 2 4 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 7 91 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 4 5 --- --- --- --- GPSM1 26086 broad.mit.edu 37 9 139235482 139235482 + Frame_Shift_Del DEL C C - TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr9:139235482delC ENST00000392945.3 + 9 1459 c.1239delC c.(1237-1239)ctfs p.L413fs GPSM1_ENST00000440944.1_Intron NM_015597.4 NP_056412.4 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 0 Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity). cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) GGGTCTTGCTCCCCACAGGCA 0.687 5 3 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 7 138 --- --- --- --- KNDC1 85442 broad.mit.edu 37 10 135033493 135033493 + Frame_Shift_Del DEL A A - TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr10:135033493delA ENST00000304613.3 + 29 4916 c.4895delA c.(4894-4896)gafs p.E1632fs KNDC1_ENST00000368572.2_Frame_Shift_Del_p.E1634fs Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1632 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TGTCTGATGGAAGGGCGGCGC 0.692 2 4 --- --- --- --- LRRC46 90506 broad.mit.edu 37 17 45909518 45909523 + In_Frame_Del DEL TATCAC TATCAC - TCGA-KS-A41L-01A-11D-A23M-08 TCGA-KS-A41L-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ced601f-7523-4fb2-bdb3-144918e4f86d 0669d6f9-72e7-488f-95df-fd491c730568 g.chr17:45909518_45909523delTATCAC ENST00000269025.4 + 2 426_431 c.63_68delTATCAC c.(61-69)ctt>ct p.LIT21del NM_033413.3 NP_219481.1 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 21 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 9 CTGAAGCCCTTATCACTAAGCGGAAC 0.529 8 161 --- --- --- ---