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 VTA1 51534 broad.mit.edu 37 6 142468531 142468531 + Missense_Mutation SNP A A G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr6:142468531A>G ENST00000367630.4 + 1 165 c.107A>G c.(106-108)tAt>tGt p.Y36C VTA1_ENST00000452973.2_Missense_Mutation_p.I10V|VTA1_ENST00000367621.1_Missense_Mutation_p.I10V NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 36 Interaction with CHMP5.|Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) GTGGTGGCTTATTACTGTGAG 0.607000 OREG0017699 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 15 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102491 22102491 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr14:22102491G>A ENST00000542433.1 - 1 605 c.508C>T c.(508-510)Cgc>Tgc p.R170C NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TAGGGCAGGCGGAAGGTCAAG 0.552000 8 71 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762403 24762403 + Missense_Mutation SNP A A T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr10:24762403A>T ENST00000376451.2 + 2 507 c.247A>T c.(247-249)Agc>Tgc p.S83C KIAA1217_ENST00000307544.6_Missense_Mutation_p.S83C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S365C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S365C|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S285C|KIAA1217_ENST00000430453.2_Missense_Mutation_p.S286C|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S365C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S83C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S83C Q5T5P2 SKT_HUMAN KIAA1217 365 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TCCAAGCCCAAGCGCCATTTT 0.502000 37 91 0 0 1 0 0 SEL1L 6400 broad.mit.edu 37 14 81994065 81994065 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr14:81994065C>T ENST00000336735.4 - 2 204 c.88G>A c.(88-90)Gat>Aat p.D30N SEL1L_ENST00000555824.1_Missense_Mutation_p.D30N NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 30 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) AAGGATTCATCCTGGCTGCCT 0.308000 4 21 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25492314 25492314 + RNA SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr15:25492314C>T ENST00000453082.2 + 0 2775 NR_003343.1 ATGGTGAGACCGGAGGAAGAC 0.582000 7 7 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149171709 149171709 + Silent SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr7:149171709G>A ENST00000340622.3 - 7 1981 c.1701C>T c.(1699-1701)acC>acT p.T567T ZNF746_ENST00000458143.2_Silent_p.T568T Q6NUN9 ZN746_HUMAN zinc finger protein 746 567 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) AGACGGTGCAGGTGAAGGGCC 0.672000 4 20 0 0 1 0 0 TIA1 7072 broad.mit.edu 37 2 70475554 70475554 + Silent SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr2:70475554G>A ENST00000433529.2 - 1 219 c.9C>T c.(7-9)gaC>gaT p.D3D C2orf42_ENST00000470096.1_5'UTR|TIA1_ENST00000445587.1_Silent_p.D3D|TIA1_ENST00000416149.2_Silent_p.D3D|TIA1_ENST00000415783.2_Silent_p.D3D|TIA1_ENST00000282574.4_Silent_p.D3D NM_022173.2 NP_071505.2 P31483 TIA1_HUMAN TIA1 cytotoxic granule-associated RNA binding protein 3 apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|poly(A) RNA binding|protein binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 17 TGGGCATCTCGTCCTCCATGG 0.642000 3 43 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52943098 52943098 + Silent SNP G G A rs147275737 TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr12:52943098G>A ENST00000267119.5 - 3 765 c.696C>T c.(694-696)aaC>aaT p.N232N NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 232 Coil 1B.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GCACAAACTCGTTCTCTGCTG 0.567000 4 137 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35310528 35310528 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr9:35310528G>A ENST00000378495.3 + 9 1048 c.826G>A c.(826-828)Gaa>Aaa p.E276K UNC13B_ENST00000378496.4_Missense_Mutation_p.E276K|UNC13B_ENST00000396787.1_Missense_Mutation_p.E288K NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 276 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TCAGCTAAGTGAACTAGACCA 0.493000 11 100 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51569523 51569523 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr8:51569523G>A ENST00000522124.1 + 14 1565 c.904G>A c.(904-906)Gtg>Atg p.V302M SNTG1_ENST00000276467.5_Missense_Mutation_p.V302M|SNTG1_ENST00000518864.1_Missense_Mutation_p.V302M|SNTG1_ENST00000517473.1_Missense_Mutation_p.V302M NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 302 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CCAGGACAGAGTGTACTCCCC 0.468000 11 59 0 0 1 0 0 ECI2 10455 broad.mit.edu 37 6 4125485 4125485 + Splice_Site SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr6:4125485C>T ENST00000465828.1 - 7 989 c.705_splice c.e7+1 p.R235_splice C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000430835.2_3'UTR|ECI2_ENST00000380125.2_Splice_Site_p.R235_splice|ECI2_ENST00000361538.2_Splice_Site_p.R235_splice|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000413766.2_Splice_Site_p.R98_splice|ECI2_ENST00000380118.3_Splice_Site_p.R265_splice O75521 ECI2_HUMAN enoyl-CoA delta isomerase 2 265 ECH-like. fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 11 CTGACTTACCCTGTCAGATGC 0.512000 32 57 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50051779 50051779 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr20:50051779C>T ENST00000371564.3 - 8 2197 c.1978G>A c.(1978-1980)Gtc>Atc p.V660I NFATC2_ENST00000396009.3_Missense_Mutation_p.V660I|NFATC2_ENST00000414705.1_Missense_Mutation_p.V640I NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 660 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCATTGATGACGTAGAAGTTC 0.428000 14 121 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19076977 19076977 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr22:19076977C>T ENST00000545799.1 - 2 306 c.106G>A c.(106-108)Gcg>Acg p.A36T DGCR2_ENST00000263196.7_Missense_Mutation_p.A36T|DGCR2_ENST00000537045.1_Intron P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 36 LDL-receptor class A. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) CTGCGACACGCAAACTGCCCA 0.622000 9 42 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70368499 70368499 + Splice_Site SNP T T C TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr15:70368499T>C ENST00000558939.1 - 5 1612 c.e5-2 TLE3_ENST00000442299.2_Splice_Site|TLE3_ENST00000558201.1_Splice_Site|TLE3_ENST00000451782.2_Splice_Site|TLE3_ENST00000557907.1_Splice_Site|TLE3_ENST00000557997.1_Splice_Site|TLE3_ENST00000558379.1_Splice_Site|TLE3_ENST00000560939.1_Splice_Site|TLE3_ENST00000440567.3_Splice_Site|TLE3_ENST00000559048.1_Splice_Site|TLE3_ENST00000317509.8_Splice_Site|TLE3_ENST00000539550.1_Splice_Site|TLE3_ENST00000559929.1_Splice_Site|TLE3_ENST00000560589.1_Splice_Site|TLE3_ENST00000559191.1_Intron Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AATCTCTGTCTGCAAAGGCAA 0.433000 21 88 0 0 1 0 0 CHST9 83539 broad.mit.edu 37 18 24496575 24496575 + Missense_Mutation SNP C C A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr18:24496575C>A ENST00000284224.8 - 6 1257 c.980G>T c.(979-981)gGa>gTa p.G327V AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.G327V NM_031422.5 NP_113610.2 Q7L1S5 CHST9_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 327 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) GAACTTGACTCCAGATCCATT 0.413000 15 97 1.3612e-06 1.40658e-06 1 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43627776 43627776 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr9:43627776C>T ENST00000332857.6 - 4 939 c.911G>A c.(910-912)cGc>cAc p.R304H SPATA31A6_ENST00000496386.1_5'UTR NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TGGTGGGTGGCGGGAAAGAGG 0.547000 10 309 0 0 1 0 0 PRR4 11272 broad.mit.edu 37 12 10999783 10999783 + Missense_Mutation SNP G G T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr12:10999783G>T ENST00000228811.4 - 3 321 c.284C>A c.(283-285)cCc>cAc p.P95H PRR4_ENST00000540107.1_Silent_p.T37T|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR NM_007244.2 NP_009175.2 Q16378 PROL4_HUMAN proline rich 4 (lacrimal) 95 Pro-rich. visual perception extracellular space endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 9 TCCTCGTCGGGGTGGTCGTTG 0.547000 30 184 1.7881e-09 1.96216e-09 1 1 0 TTN 7273 broad.mit.edu 37 2 179629005 179629005 + Missense_Mutation SNP T T A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr2:179629005T>A ENST00000589042.1 - 43 10237 c.10013A>T c.(10012-10014)cAg>cTg p.Q3338L TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q3338L|TTN_ENST00000460472.2_Missense_Mutation_p.Q3292L|TTN_ENST00000591111.1_Missense_Mutation_p.Q3338L|TTN_ENST00000342175.6_Missense_Mutation_p.Q3292L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q3338L|TTN_ENST00000359218.5_Missense_Mutation_p.Q3292L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3063 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) AGGCATTTCCTGATCAGGAGA 0.468000 8 17 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46713390 46713390 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr3:46713390C>T ENST00000318962.4 - 24 2751 c.2668G>A c.(2668-2670)Gtg>Atg p.V890M ALS2CL_ENST00000415953.1_Missense_Mutation_p.V890M|ALS2CL_ENST00000383742.3_Missense_Mutation_p.V237M NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 890 VPS9. endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CGCGACACCACGTAGATGAGA 0.627000 12 42 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189582020 189582020 + Splice_Site SNP G G T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr3:189582020G>T ENST00000264731.3 + 5 668 c.e5-1 TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000354600.5_Splice_Site|TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000418709.2_Splice_Site NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACTCTAAGCAGTATTCCACTG 0.458000 HNSCC(45;0.13) 107 124 5.96743e-59 6.72692e-59 1 1 0 OR6T1 219874 broad.mit.edu 37 11 123813817 123813817 + Silent SNP C C T rs138335573 TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr11:123813817C>T ENST00000321252.2 - 1 763 c.729G>A c.(727-729)tcG>tcA p.S243S NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CTGTAAGATGCGAGGCGCAAG 0.522000 24 61 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395835 154395835 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr5:154395835C>T ENST00000435029.4 + 1 2576 c.2416C>T c.(2416-2418)Cat>Tat p.H806Y NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 806 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTCTGAGGTGCATGGTCAAGT 0.443000 5 32 0 0 1 0 0 ANP32A 8125 broad.mit.edu 37 15 69113049 69113049 + Silent SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr15:69113049C>T ENST00000465139.2 - 1 185 c.42G>A c.(40-42)agG>agA p.R14R ANP32A_ENST00000560303.1_Silent_p.R14R|SPESP1_ENST00000560188.1_Intron NM_006305.3 NP_006296.1 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 14 intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding endometrium(1)|large_intestine(1)|lung(2) 4 CAGAGGGCGTCCTGTTCCGCA 0.542000 10 33 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130284550 130284550 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr11:130284550C>T ENST00000257359.6 - 5 2148 c.1442G>A c.(1441-1443)gGg>gAg p.G481E NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 481 Disintegrin. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGGCTCAGCCCCATCAGTGTG 0.652000 4 109 0 0 1 0 0 IGF2 3481 broad.mit.edu 37 11 2154380 2154380 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr11:2154380C>T ENST00000416167.2 - 4 1546 c.380G>A c.(379-381)cGc>cAc p.R127H IGF2_ENST00000381389.1_Missense_Mutation_p.R127H|IGF2_ENST00000381392.1_Missense_Mutation_p.R130H|IGF2_ENST00000434045.2_Missense_Mutation_p.R183H|IGF2_ENST00000337883.6_Missense_Mutation_p.R127H|IGF2_ENST00000300632.5_Missense_Mutation_p.R127H|IGF2_ENST00000381406.4_Missense_Mutation_p.R130H|IGF2_ENST00000381395.1_Missense_Mutation_p.R127H|IGF2_ENST00000418738.2_Missense_Mutation_p.R127H P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 127 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CAGGCCCCTGCGCAGGCGCTG 0.657000 6 25 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120829137 120829137 + Silent SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr10:120829137G>A ENST00000369144.3 - 6 898 c.771C>T c.(769-771)caC>caT p.H257H EIF3A_ENST00000541549.1_Silent_p.H223H|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 257 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) AGAATAGCCCGTGAATATCTT 0.323000 14 55 0 0 1 0 0 ACTR8 93973 broad.mit.edu 37 3 53914080 53914080 + Silent SNP A A T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr3:53914080A>T ENST00000335754.3 - 2 280 c.180T>A c.(178-180)atT>atA p.I60I ACTR8_ENST00000482349.1_5'UTR NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 60 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) TGGCTCGACCAATCCTTAAAG 0.438000 16 72 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47775531 47775531 + Silent SNP G G T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr21:47775531G>T ENST00000359568.5 + 12 2033 c.1926G>T c.(1924-1926)ggG>ggT p.G642G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 642 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCTCTGAAGGGCACAGCCAAG 0.642000 6 19 0.00116845 0.0011876 1 1 0 U2SURP 23350 broad.mit.edu 37 3 142731100 142731100 + Missense_Mutation SNP A A T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr3:142731100A>T ENST00000473835.2 + 3 217 c.127A>T c.(127-129)Agt>Tgt p.S43C U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S43C NM_001080415.1 NP_001073884.1 O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 43 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 TGATATGCCAAGTCGGACACG 0.393000 10 42 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61512130 61512130 + Missense_Mutation SNP C C A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr20:61512130C>A ENST00000266070.4 - 16 5503 c.5178G>T c.(5176-5178)caG>caT p.Q1726H DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1726H NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1726 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGGGTCTGGCCTGTGGCTCTC 0.642000 19 119 1.9806e-07 2.11719e-07 1 1 0 SCP2 6342 broad.mit.edu 37 1 53443924 53443924 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr1:53443924C>T ENST00000371514.3 + 9 878 c.710C>T c.(709-711)gCc>gTc p.A237V SCP2_ENST00000528311.1_Missense_Mutation_p.A156V|SCP2_ENST00000407246.2_Missense_Mutation_p.A213V|SCP2_ENST00000371509.4_Missense_Mutation_p.A193V|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371513.5_Missense_Mutation_p.A193V NM_002979.4 NP_002970.2 P22307 NLTP_HUMAN sterol carrier protein 2 237 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 GCAATTTTGGCCAGTGAAGCA 0.433000 3 33 0 0 1 0 0 BRF1 2972 broad.mit.edu 37 14 105677540 105677540 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr14:105677540C>T ENST00000546474.1 - 17 16874 c.1915G>A c.(1915-1917)Gac>Aac p.D639N BRF1_ENST00000440513.3_Missense_Mutation_p.D546N|BRF1_ENST00000446501.2_Missense_Mutation_p.D401N|BRF1_ENST00000392557.4_Missense_Mutation_p.D435N|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000547530.1_Missense_Mutation_p.D165N|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000327359.3_Missense_Mutation_p.D524N|BRF1_ENST00000379937.2_Missense_Mutation_p.D612N NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 639 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GCCTCCTCGTCGGCGTGGTAT 0.682000 10 55 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126314960 126314960 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr11:126314960C>T ENST00000525144.2 - 10 1415 c.1166G>A c.(1165-1167)cGc>cAc p.R389H KIRREL3_ENST00000525704.2_Missense_Mutation_p.R389H|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R389H NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 389 Ig-like C2-type 4. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) GTCCTCCTGGCGCACGGATTT 0.622000 9 60 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327257 52327257 + Missense_Mutation SNP G G A rs143250626 by1000genomes TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr19:52327257G>A ENST00000339223.4 + 2 435 c.256G>A c.(256-258)Gcc>Acc p.A86T FPR3_ENST00000595991.1_Missense_Mutation_p.A86T NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 86 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity p.A86S(1) NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 GGTCTCAGTCGCCATGAGAGA 0.453000 13 62 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84705637 84705637 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr15:84705637G>A ENST00000286744.5 + 29 5091 c.4867G>A c.(4867-4869)Gac>Aac p.D1623N ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1623N NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1623 TSP type-1 10. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TCGGAAAGTCGACTGTATCCA 0.542000 8 22 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38850794 38850794 + Missense_Mutation SNP A A T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr6:38850794A>T ENST00000359357.3 + 52 7570 c.7316A>T c.(7315-7317)aAt>aTt p.N2439I DNAH8_ENST00000449981.2_Missense_Mutation_p.N2656I|DNAH8_ENST00000441566.1_Missense_Mutation_p.N2403I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATTAGAACAAATTTTTTGATA 0.338000 8 63 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128034605 128034605 + Silent SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr7:128034605C>T ENST00000338791.6 - 15 1949 c.1599G>A c.(1597-1599)caG>caA p.Q533Q IMPDH1_ENST00000480861.1_Silent_p.Q443Q|IMPDH1_ENST00000470772.1_Silent_p.Q447Q|IMPDH1_ENST00000354269.5_Silent_p.Q523Q|IMPDH1_ENST00000348127.6_Silent_p.Q497Q|IMPDH1_ENST00000419067.2_Silent_p.Q500Q|IMPDH1_ENST00000378717.4_Silent_p.Q464Q|IMPDH1_ENST00000343214.4_Silent_p.Q423Q|IMPDH1_ENST00000496200.1_Silent_p.Q423Q NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 448 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) ATCCTTTGTCCTGGATGGAGC 0.602000 4 59 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63666265 63666265 + Missense_Mutation SNP G G T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr11:63666265G>T ENST00000402010.2 + 6 1013 c.434G>T c.(433-435)gGc>gTc p.G145V MARK2_ENST00000350490.7_Missense_Mutation_p.G145V|MARK2_ENST00000513765.2_Missense_Mutation_p.G112V|MARK2_ENST00000509502.2_Missense_Mutation_p.G112V|MARK2_ENST00000508192.1_Missense_Mutation_p.G145V|MARK2_ENST00000361128.5_Missense_Mutation_p.G145V|MARK2_ENST00000315032.8_Missense_Mutation_p.G145V|MARK2_ENST00000408948.3_Missense_Mutation_p.G112V|MARK2_ENST00000502399.3_Missense_Mutation_p.G145V|MARK2_ENST00000377810.3_Missense_Mutation_p.G112V|MARK2_ENST00000413835.2_Missense_Mutation_p.G145V|MARK2_ENST00000377809.4_Missense_Mutation_p.G145V|MARK2_ENST00000425897.2_Missense_Mutation_p.G112V NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 145 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 GTGGCTCATGGCAGGATGAAA 0.527000 16 41 1.15088e-07 1.24095e-07 1 1 0 VEZT 55591 broad.mit.edu 37 12 95676135 95676135 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr12:95676135G>A ENST00000436874.1 + 8 1148 c.1043G>A c.(1042-1044)cGg>cAg p.R348Q VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R300Q NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 348 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 TTCTTCAGACGGTTAGCCCTA 0.408000 8 32 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3628634 3628634 + Nonsense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr17:3628634C>T ENST00000325418.4 + 1 1424 c.1405C>T c.(1405-1407)Cag>Tag p.Q469* ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 469 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity GGAATGCAGTCAGAAGGGTCC 0.448000 9 51 0 0 1 0 0 NUDCD3 23386 broad.mit.edu 37 7 44530100 44530100 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr7:44530100G>A ENST00000355451.6 - 1 379 c.100C>T c.(100-102)Ctc>Ttc p.L34F NM_015332.3 NP_056147.2 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 34 endometrium(2)|large_intestine(1)|lung(3)|skin(1) 7 TTGCGGTAGAGGAAGCCAAAG 0.647000 8 10 0 0 1 0 0 CHRDL1 91851 broad.mit.edu 37 X 110002960 110002960 + Missense_Mutation SNP C C A rs149609884 TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chrX:110002960C>A ENST00000218054.4 - 4 426 c.230G>T c.(229-231)cGa>cTa p.R77L CHRDL1_ENST00000444321.2_Missense_Mutation_p.R77L|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000372045.1_Missense_Mutation_p.R71L|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R77L|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000482160.1_Missense_Mutation_p.R77L NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 71 VWFC 1. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region p.R77Q(1) endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 ACATCTGACTCGGCTGCAAAG 0.443000 13 128 7.93312e-07 8.3365e-07 1 1 0 DENND6A 201627 broad.mit.edu 37 3 57614608 57614608 + Nonsense_Mutation SNP A A C TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr3:57614608A>C ENST00000311128.5 - 19 1695 c.1625T>G c.(1624-1626)tTa>tGa p.L542* RP11-755B10.2_ENST00000470427.1_RNA NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A CCAGAGAAGTAAGTCCTAGAA 0.348000 4 35 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60887781 60887781 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr20:60887781C>T ENST00000252999.3 - 67 9200 c.9134G>A c.(9133-9135)cGg>cAg p.R3045Q NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3045 Laminin G-like 2. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACCGTGGCCCGCTCCACACG 0.687000 3 9 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20483149 20483149 + Missense_Mutation SNP T T A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr2:20483149T>A ENST00000361078.2 - 10 1412 c.1390A>T c.(1390-1392)Atg>Ttg p.M464L PUM2_ENST00000536417.1_Missense_Mutation_p.M408L|PUM2_ENST00000319801.5_Missense_Mutation_p.M464L|PUM2_ENST00000338086.5_Missense_Mutation_p.M464L|PUM2_ENST00000403432.1_Missense_Mutation_p.M464L Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 464 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTGGAGCCATTAACCGAACT 0.443000 27 29 0 0 1 0 0 P2RX2 22953 broad.mit.edu 37 12 133197147 133197147 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr12:133197147G>A ENST00000389110.3 + 7 789 c.752G>A c.(751-753)aGc>aAc p.S251N P2RX2_ENST00000352418.4_Missense_Mutation_p.S179N|P2RX2_ENST00000343948.4_Missense_Mutation_p.S251N|P2RX2_ENST00000351222.4_Missense_Mutation_p.S159N|P2RX2_ENST00000350048.5_Missense_Mutation_p.S227N|P2RX2_ENST00000449132.2_Silent_p.E215E|P2RX2_ENST00000348800.5_Missense_Mutation_p.S251N NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 251 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) GCTGGGGAGAGCTTCACAGAG 0.647000 11 78 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168269713 168269713 + Missense_Mutation SNP A A T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr1:168269713A>T ENST00000367821.3 + 5 770 c.719A>T c.(718-720)tAt>tTt p.Y240F NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 240 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) CATGTGACCTATTCTCACTGT 0.507000 7 15 0 0 1 0 0 MYO1D 4642 broad.mit.edu 37 17 30981575 30981575 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr17:30981575C>T ENST00000318217.5 - 18 2714 c.2410G>A c.(2410-2412)Gtt>Att p.V804I MYO1D_ENST00000394649.4_Missense_Mutation_p.V716I|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Missense_Mutation_p.V804I NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 804 myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) ACGGCTGCAACCTTTGCCCTG 0.517000 16 39 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51747075 51747075 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr3:51747075G>A ENST00000395052.3 + 3 1271 c.1037G>A c.(1036-1038)cGt>cAt p.R346H GRM2_ENST00000442933.2_Missense_Mutation_p.R346H|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 346 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CCCTGGTTCCGTGAATTCTGG 0.602000 8 42 0 0 1 0 0 GLIPR1L2 144321 broad.mit.edu 37 12 75804313 75804313 + Missense_Mutation SNP A A G rs150816381 TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr12:75804313A>G ENST00000550916.1 + 2 381 c.334A>G c.(334-336)Aaa>Gaa p.K112E GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.K5E|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.K47E NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 112 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 GGTCCATCCTAAATTTTATGG 0.363000 18 37 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72289857 72289857 + Splice_Site SNP T T C TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr12:72289857T>C ENST00000550746.1 + 9 1099 c.e9+2 TBC1D15_ENST00000485960.2_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000393309.3_Splice_Site NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TTTAGAGGGGTAATTTAAACA 0.328000 10 38 0 0 1 0 0 CHFR 55743 broad.mit.edu 37 12 133423707 133423707 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr12:133423707C>T ENST00000266880.7 - 16 1753 c.1690G>A c.(1690-1692)Gca>Aca p.A564T CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Missense_Mutation_p.A524T|CHFR_ENST00000450056.2_Missense_Mutation_p.A553T|CHFR_ENST00000541341.1_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.A565T|CHFR_ENST00000443047.2_Missense_Mutation_p.A473T|CHFR_ENST00000537522.1_Missense_Mutation_p.A187T Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 565 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) CCTCTGGTTGCCAGGTAATTC 0.448000 25 59 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52825420 52825420 + Silent SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr12:52825420G>A ENST00000252245.5 - 4 997 c.777C>T c.(775-777)gaC>gaT p.D259D NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 259 Coil 1B.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CAGCATCTACGTCCTGGAATG 0.498000 15 47 0 0 1 0 0 DBR1 51163 broad.mit.edu 37 3 137893475 137893475 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr3:137893475G>A ENST00000260803.4 - 1 316 c.163C>T c.(163-165)Ccg>Tcg p.P55S DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 55 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TACTTGGGCGGCACGGCCATG 0.697000 3 17 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8130994 8130994 + Missense_Mutation SNP C C G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr20:8130994C>G ENST00000378641.3 + 2 628 c.153C>G c.(151-153)ttC>ttG p.F51L PLCB1_ENST00000338037.6_Missense_Mutation_p.F51L|PLCB1_ENST00000378637.2_Missense_Mutation_p.F51L NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 51 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AGGGATTTTTCTTTTACTGGA 0.313000 4 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179403801 179403801 + Missense_Mutation SNP G G T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr2:179403801G>T ENST00000589042.1 - 353 99085 c.98861C>A c.(98860-98862)aCc>aAc p.T32954N TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T30386N|TTN_ENST00000460472.2_Missense_Mutation_p.T23889N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T31313N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T24081N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T24014N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31313 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) GTACATTGTGGTGGTGATCTG 0.502000 5 32 0.014758 0.014758 1 1 0 TBCE 6905 broad.mit.edu 37 1 235606175 235606175 + Missense_Mutation SNP A A G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr1:235606175A>G ENST00000543662.1 + 16 1607 c.1501A>G c.(1501-1503)Ata>Gta p.I501V TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.I450V|TBCE_ENST00000366601.3_Missense_Mutation_p.I450V Q15813 TBCE_HUMAN tubulin folding cofactor E 450 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) AGCACTGAAGATAAAATACCC 0.363000 5 16 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144852227 144852227 + Missense_Mutation SNP T T A rs116608682 by1000genomes TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr6:144852227T>A ENST00000367545.3 + 41 5946 c.5946T>A c.(5944-5946)caT>caA p.H1982Q NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1982 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GACAGTTCCATTGTGACCTTA 0.438000 8 18 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073831 134073831 + Missense_Mutation SNP A A G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr4:134073831A>G ENST00000264360.4 + 1 3362 c.2536A>G c.(2536-2538)Acg>Gcg p.T846A NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 846 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) TTCGCGGAGTACGGACACTGA 0.562000 12 32 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144942424 144942424 + Silent SNP G G T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr8:144942424G>T ENST00000525985.1 - 2 5069 c.4998C>A c.(4996-4998)gcC>gcA p.A1666A P58107 EPIPL_HUMAN epiplakin 1 1666 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTTCTGCATGGCCTGGAAGA 0.662000 43 96 1.00953e-15 1.12776e-15 1 1 0 TLR10 81793 broad.mit.edu 37 4 38777143 38777143 + Missense_Mutation SNP C C G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr4:38777143C>G ENST00000308973.4 - 4 674 c.69G>C c.(67-69)gaG>gaC p.E23D TLR10_ENST00000506111.1_Missense_Mutation_p.E23D|TLR10_ENST00000508334.1_Missense_Mutation_p.E23D|TLR10_ENST00000361424.2_Missense_Mutation_p.E23D NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 23 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 CTTCTGGCAGCTCTGGAGCAT 0.428000 11 36 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220156621 220156621 + Missense_Mutation SNP T T A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr1:220156621T>A ENST00000366923.3 - 22 3479 c.3210A>T c.(3208-3210)aaA>aaT p.K1070N NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 1070 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) CAACACCAAGTTTCTTGATCT 0.433000 14 54 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14273468 14273468 + Missense_Mutation SNP T T C TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr19:14273468T>C ENST00000340736.6 - 6 1457 c.1160A>G c.(1159-1161)tAt>tGt p.Y387C LPHN1_ENST00000361434.3_Missense_Mutation_p.Y382C|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 387 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CACCACGAAATAGTTGTTCCA 0.607000 18 115 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34945854 34945854 + Missense_Mutation SNP A A G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr5:34945854A>G ENST00000303525.7 + 9 1397 c.1170A>G c.(1168-1170)atA>atG p.I390M DNAJC21_ENST00000342382.4_Intron|DNAJC21_ENST00000382021.2_Intron NM_001012339.2 NP_001012339.2 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 381 Poly-Lys. protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TTCGATTTATATTTGCTCTTA 0.294000 9 61 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71939816 71939816 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr11:71939816C>T ENST00000298229.2 + 4 647 c.443C>T c.(442-444)aCc>aTc p.T148I INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 148 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TCTGGCTCCACCAGCATTTCT 0.662000 17 72 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43912044 43912044 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr17:43912044C>T ENST00000314537.5 + 13 1387 c.1162C>T c.(1162-1164)Cgt>Tgt p.R388C CRHR1_ENST00000352855.5_Missense_Mutation_p.R348C|CRHR1_ENST00000339069.5_Silent_p.S241S|CRHR1_ENST00000398285.3_Missense_Mutation_p.R417C|CRHR1_ENST00000293493.7_Missense_Mutation_p.R213C|CRHR1_ENST00000577353.1_Missense_Mutation_p.R374C NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 417 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) GCACTCGATCCGTGCCCGAGT 0.627000 10 66 0 0 1 0 0 TKT 7086 broad.mit.edu 37 3 53265501 53265501 + Missense_Mutation SNP G G C TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr3:53265501G>C ENST00000462138.1 - 7 902 c.814C>G c.(814-816)Cag>Gag p.Q272E TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.Q280E|TKT_ENST00000423525.2_Missense_Mutation_p.Q272E|TKT_ENST00000296289.6_Missense_Mutation_p.Q225E P29401 TKT_HUMAN transketolase 272 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) TAGATCTCCTGGATGATCTGC 0.557000 4 32 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42793356 42793356 + Nonsense_Mutation SNP C C G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr19:42793356C>G ENST00000572681.2 + 9 3953 c.3885C>G c.(3883-3885)taC>taG p.Y1295* CIC_ENST00000575354.2_Nonsense_Mutation_p.Y386*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Y386* Q96RK0 CIC_HUMAN capicua transcriptional repressor 386 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) CTGCATCGTACTCTGGCCCAA 0.672000 """Mis, F, S""" oligodendroglioma 27 125 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123893848 123893848 + Silent SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr11:123893848C>T ENST00000375024.1 + 1 129 c.129C>T c.(127-129)atC>atT p.I43I NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) ACCTCCTCATCCTGCTGGTGA 0.572000 20 73 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31255198 31255198 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr12:31255198G>A ENST00000407793.2 + 22 2475 c.2224G>A c.(2224-2226)Gca>Aca p.A742T DDX11_ENST00000542838.1_Missense_Mutation_p.A742T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.A742T|DDX11_ENST00000350437.4_Missense_Mutation_p.A692T|DDX11_ENST00000228264.6_Missense_Mutation_p.A716T NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 742 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) ACCTAAGAGCGCACACCAGGT 0.577000 Multiple Myeloma(12;0.14) 5 61 0 0 1 0 0 RPL3 6122 broad.mit.edu 37 22 39713632 39713632 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr22:39713632C>T ENST00000216146.4 - 3 372 c.199G>A c.(199-201)Gtg>Atg p.V67M RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Missense_Mutation_p.V15M NM_000967.3|NM_001033853.1 NP_000958.1|NP_001029025.1 P39023 RL3_HUMAN ribosomal protein L3 67 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Melanoma(58;0.04) TTCTTGTTCACCTCTGCAAAA 0.532000 19 93 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31915185 31915185 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr6:31915185G>A ENST00000456570.1 + 16 2106 c.2051G>A c.(2050-2052)cGc>cAc p.R684H CFB_ENST00000477310.1_Missense_Mutation_p.R533H|CFB_ENST00000425368.2_Missense_Mutation_p.R182H|CFB_ENST00000556679.1_Missense_Mutation_p.R684H P00751 CFAB_HUMAN complement factor B 182 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 AGCCAGTACCGCCTTGAAGAC 0.632000 20 123 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35454378 35454378 + Silent SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr11:35454378G>A ENST00000378880.2 - 11 2134 c.1689C>T c.(1687-1689)atC>atT p.I563I PAMR1_ENST00000278360.3_Silent_p.I580I|PAMR1_ENST00000378878.3_Silent_p.I452I|PAMR1_ENST00000532848.1_Silent_p.I523I NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 563 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 GGAGCTTCAGGATGGCGATGT 0.547000 11 40 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82578803 82578803 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr7:82578803C>T ENST00000423517.2 - 6 11438 c.11101G>A c.(11101-11103)Gag>Aag p.E3701K PCLO_ENST00000437081.1_Missense_Mutation_p.E421K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3701K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3632 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTATAGCCCTCGGTATACTGA 0.463000 20 120 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83129517 83129517 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chrX:83129517C>T ENST00000329312.4 + 4 1838 c.1801C>T c.(1801-1803)Cct>Tct p.P601S NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 601 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 AGGTAGAGTTCCTCCATCAAG 0.448000 9 39 0 0 1 0 0 ANKRD53 79998 broad.mit.edu 37 2 71206793 71206793 + Silent SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr2:71206793C>T ENST00000272421.6 + 3 686 c.420C>T c.(418-420)ggC>ggT p.G140G ANKRD53_ENST00000457410.1_Silent_p.G106G|ANKRD53_ENST00000360589.3_Silent_p.G140G|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Silent_p.G106G NM_024933.3 NP_079209.3 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 140 endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 CCTCACAGGGCTTCACTGCCA 0.532000 7 6 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53787615 53787615 + Missense_Mutation SNP A A G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr3:53787615A>G ENST00000288139.3 + 30 3870 c.3752A>G c.(3751-3753)aAg>aGg p.K1251R CACNA1D_ENST00000540742.1_Missense_Mutation_p.K138R|CACNA1D_ENST00000422281.2_Missense_Mutation_p.K1231R|CACNA1D_ENST00000350061.5_Missense_Mutation_p.K1231R NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1231 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GAGCAGTCCAAGATGTTCAAT 0.512000 3 49 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156128598 156128598 + Missense_Mutation SNP A A T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr1:156128598A>T ENST00000368285.3 + 6 818 c.551A>T c.(550-552)cAt>cTt p.H184L SEMA4A_ENST00000368286.2_Missense_Mutation_p.H52L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.H184L|SEMA4A_ENST00000355014.2_Missense_Mutation_p.H184L|SEMA4A_ENST00000368284.1_Missense_Mutation_p.H52L NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 184 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) GCTCACAAGCATACGGCTGTC 0.488000 27 74 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr17:7578394T>C ENST00000420246.2 - 5 668 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGCGCTCATGGTGGGGGCA 0.642000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 47 0 0 1 0 0 ZNF772 400720 broad.mit.edu 37 19 57987107 57987107 + Silent SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr19:57987107C>T ENST00000343280.4 - 3 380 c.120G>A c.(118-120)gaG>gaA p.E40E ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Silent_p.E40E|AC004076.9_ENST00000596831.1_Silent_p.E40E|ZNF772_ENST00000425074.3_Intron|AC004076.9_ENST00000415705.3_Intron NM_001024596.2 NP_001019767.1 Q68DY9 ZN772_HUMAN zinc finger protein 772 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3) 9 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) GGAGCACCCACTCCTCCTGGG 0.562000 15 96 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6702579 6702579 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr19:6702579C>T ENST00000245907.6 - 18 2349 c.2257G>A c.(2257-2259)Gag>Aag p.E753K NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 753 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ATGATGTCCTCATCCAGGTTA 0.517000 12 51 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57085349 57085349 + Silent SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr11:57085349G>A ENST00000532437.1 - 3 1052 c.741C>T c.(739-741)tcC>tcT p.S247S TNKS1BP1_ENST00000358252.3_Silent_p.S247S Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 247 Acidic.|Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AGGCCAGGTCGGAAGGAAGGC 0.512000 8 41 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13224399 13224399 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr9:13224399C>T ENST00000319217.7 - 4 614 c.367G>A c.(367-369)Gat>Aat p.D123N MPDZ_ENST00000381022.2_Missense_Mutation_p.D123N|MPDZ_ENST00000546205.1_Missense_Mutation_p.D123N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D123N|MPDZ_ENST00000541718.1_Missense_Mutation_p.D123N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D123N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D123N NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 123 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ATAAGCTGATCAAATTCATCA 0.338000 9 71 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11197558 11197558 + Missense_Mutation SNP A A C TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chrX:11197558A>C ENST00000337414.4 - 7 2216 c.1344T>G c.(1342-1344)ttT>ttG p.F448L ARHGAP6_ENST00000380718.1_Missense_Mutation_p.F448L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.F245L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.F257L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.F480L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.F273L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.F245L|ARHGAP6_ENST00000491514.1_5'UTR NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 448 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TCCCACGGTCAAATTCCTCAC 0.517000 17 44 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135383002 135383002 + Missense_Mutation SNP C C G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr5:135383002C>G ENST00000442011.2 + 6 825 c.664C>G c.(664-666)Cac>Gac p.H222D TGFBI_ENST00000305126.8_Missense_Mutation_p.H222D NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 222 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAAAGCCGACCACCATGCAAC 0.532000 14 116 0 0 1 0 0 TTC13 79573 broad.mit.edu 37 1 231096993 231096993 + Missense_Mutation SNP A A T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr1:231096993A>T ENST00000366661.4 - 2 335 c.328T>A c.(328-330)Tgt>Agt p.C110S TTC13_ENST00000366662.4_Missense_Mutation_p.C110S|TTC13_ENST00000414259.1_Missense_Mutation_p.C110S NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 110 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) AAGGAGTCACAGGGTGATGAT 0.418000 8 21 0 0 1 0 0 RSAD1 55316 broad.mit.edu 37 17 48559727 48559727 + Silent SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr17:48559727G>A ENST00000258955.2 + 4 835 c.750G>A c.(748-750)ccG>ccA p.P250P NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 250 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCCCTGACCCGGAGCTCGCAG 0.637000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 79 0 0 1 0 0 FBXL3 26224 broad.mit.edu 37 13 77589583 77589583 + Silent SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr13:77589583G>A ENST00000355619.5 - 4 928 c.604C>T c.(604-606)Ctg>Ttg p.L202L FBXL3_ENST00000477982.1_5'UTR NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 202 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) ATTTTCAACAGCTTGAGTGTA 0.388000 30 56 0 0 1 0 0 NXF1 10482 broad.mit.edu 37 11 62561861 62561861 + Silent SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr11:62561861C>T ENST00000532297.1 - 20 2258 c.1629G>A c.(1627-1629)gaG>gaA p.E543E NXF1_ENST00000294172.2_Silent_p.E543E|NXF1_ENST00000531709.2_3'UTR Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 543 gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTCTTTGGATCTCTTCAGAAC 0.493000 13 61 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140957875 140957875 + Silent SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr5:140957875C>T ENST00000253811.6 - 11 1220 c.1080G>A c.(1078-1080)gtG>gtA p.V360V DIAPH1_ENST00000398562.2_Silent_p.V351V|DIAPH1_ENST00000518047.1_Silent_p.V351V|DIAPH1_ENST00000398557.4_Silent_p.V360V|DIAPH1_ENST00000520569.1_Silent_p.V306V|DIAPH1_ENST00000398566.3_Silent_p.V351V|DIAPH1_ENST00000389054.3_Silent_p.V360V|DIAPH1_ENST00000389057.5_Silent_p.V351V O60610 DIAP1_HUMAN diaphanous-related formin 1 360 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTTAGTTGCACTCTCATAT 0.428000 11 22 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103499135 103499135 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chrX:103499135G>A ENST00000372588.4 - 2 289 c.206C>T c.(205-207)tCg>tTg p.S69L NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 69 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 TTGGTCGTCCGAGGGGACGGA 0.647000 25 238 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39448687 39448687 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr4:39448687G>A ENST00000257408.4 + 4 2438 c.2341G>A c.(2341-2343)Gac>Aac p.D781N NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 781 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 CAAGACCGGGGACTACCCCGC 0.672000 9 58 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72131733 72131733 + Missense_Mutation SNP G G T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr9:72131733G>T ENST00000265381.4 - 2 616 c.394C>A c.(394-396)Cag>Aag p.Q132K NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 132 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GCCTCTGCCTGCTCCGTGTAC 0.711000 10 28 7.48243e-07 7.9301e-07 1 1 0 PNMA5 114824 broad.mit.edu 37 X 152159047 152159047 + Nonsense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chrX:152159047G>A ENST00000439251.1 - 2 1534 c.1096C>T c.(1096-1098)Cag>Tag p.Q366* PNMA5_ENST00000361887.5_Nonsense_Mutation_p.Q366*|PNMA5_ENST00000535214.1_Nonsense_Mutation_p.Q366*|PNMA5_ENST00000452693.1_Nonsense_Mutation_p.Q366* NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 366 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ACGGTGGCCTGAGGTGCAGAG 0.587000 25 97 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132781 91132781 + Missense_Mutation SNP C C A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chrX:91132781C>A ENST00000373094.1 + 2 2387 c.1542C>A c.(1540-1542)agC>agA p.S514R PCDH11X_ENST00000395337.2_Missense_Mutation_p.S514R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S514R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S514R|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S514R NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 514 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTGAATTCAGCCTGGATTGTC 0.438000 16 36 1.3612e-06 1.40658e-06 1 1 0 POLR2M 81488 broad.mit.edu 37 15 58001333 58001333 + Missense_Mutation SNP A A G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr15:58001333A>G ENST00000299638.3 + 2 749 c.535A>G c.(535-537)Agt>Ggt p.S179G GCOM1_ENST00000484300.1_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.S576G|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Intron|POLR2M_ENST00000380563.2_Missense_Mutation_p.S179G|POLR2M_ENST00000464308.1_3'UTR NM_015532.3 NP_056347.1 polymerase (RNA) II (DNA directed) polypeptide M TCGTGTTTCAAGTCAAGCGGA 0.483000 8 35 0 0 1 0 0 FIGF 2277 broad.mit.edu 37 X 15381434 15381434 + Missense_Mutation SNP G G C TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chrX:15381434G>C ENST00000297904.3 - 2 527 c.98C>G c.(97-99)tCt>tGt p.S33C NM_004469.4 NP_004460.1 O43915 VEGFD_HUMAN c-fos induced growth factor (vascular endothelial growth factor D) 33 angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 Hepatocellular(33;0.183) TGTGGACTGAGATGATCGCTT 0.353000 5 37 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144891803 144891803 + Missense_Mutation SNP G G A rs146580395 TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr8:144891803G>A ENST00000356994.2 - 14 1622 c.1616C>T c.(1615-1617)cCg>cTg p.P539L SCRIB_ENST00000320476.3_Missense_Mutation_p.P539L|SCRIB_ENST00000377533.3_Missense_Mutation_p.P458L NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 539 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CTCAGCCGACGGGCCCTCGGG 0.657000 13 107 0 0 1 0 0 SEC22A 26984 broad.mit.edu 37 3 122942410 122942410 + Missense_Mutation SNP A A G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr3:122942410A>G ENST00000309934.4 + 2 1083 c.187A>G c.(187-189)Att>Gtt p.I63V SEC22A_ENST00000492595.1_Missense_Mutation_p.I63V|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000477063.1_3'UTR NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 63 Longin. ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) CTGTAGTTTTATTAGCTCTCT 0.363000 15 83 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50737427 50737427 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr7:50737427C>T ENST00000403097.1 - 6 1258 c.478G>A c.(478-480)Gca>Aca p.A160T GRB10_ENST00000402497.1_Missense_Mutation_p.A108T|GRB10_ENST00000398812.2_Missense_Mutation_p.A166T|GRB10_ENST00000398810.2_Missense_Mutation_p.A108T|GRB10_ENST00000439599.1_Missense_Mutation_p.A160T|GRB10_ENST00000335866.3_Missense_Mutation_p.A108T|GRB10_ENST00000357271.5_Missense_Mutation_p.A166T|GRB10_ENST00000401949.1_Missense_Mutation_p.A166T|GRB10_ENST00000407526.1_Missense_Mutation_p.A108T|GRB10_ENST00000406641.1_Missense_Mutation_p.A108T|GRB10_ENST00000402578.1_Missense_Mutation_p.A108T Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 166 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) ACCTGCTTTGCGGCGGCCTGG 0.587000 Russell-Silver syndrome 3 32 0 0 1 0 0 FAM150A 389658 broad.mit.edu 37 8 53452399 53452399 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr8:53452399G>A ENST00000358543.4 - 3 567 c.317C>T c.(316-318)aCg>aTg p.T106M FAM150A_ENST00000523939.1_Missense_Mutation_p.T106M NM_207413.3 NP_997296.1 Q6UXT8 F150A_HUMAN family with sequence similarity 150, member A 106 extracellular region lung(1) 1 Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17) ACAAGCTGGCGTTGAGCACTC 0.388000 10 20 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72184072 72184072 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr8:72184072C>T ENST00000340726.3 - 10 1526 c.887G>A c.(886-888)cGt>cAt p.R296H EYA1_ENST00000303824.7_Missense_Mutation_p.R290H|EYA1_ENST00000388741.2_Missense_Mutation_p.R262H|EYA1_ENST00000388743.2_Missense_Mutation_p.R295H|EYA1_ENST00000419131.1_Missense_Mutation_p.R291H|EYA1_ENST00000388740.3_Missense_Mutation_p.R263H|EYA1_ENST00000388742.4_Missense_Mutation_p.R296H NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 296 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TGAACCTCGACGCAATCGATC 0.458000 19 173 0 0 1 0 0 NFKB1 4790 broad.mit.edu 37 4 103518735 103518735 + Silent SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr4:103518735C>T ENST00000226574.4 + 15 2021 c.1554C>T c.(1552-1554)ttC>ttT p.F518F NFKB1_ENST00000600343.1_Silent_p.F337F|NFKB1_ENST00000394820.4_Silent_p.F517F|NFKB1_ENST00000505458.1_Silent_p.F517F NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 517 Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) ATGCCCTTTTCGACTACGCGG 0.498000 12 58 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233289 43233289 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr19:43233289G>A ENST00000327495.5 - 5 1413 c.1229C>T c.(1228-1230)aCa>aTa p.T410I PSG3_ENST00000595140.1_Missense_Mutation_p.T410I NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 410 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GACTTTGACTGTCATGGATTT 0.448000 4 155 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83128513 83128513 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chrX:83128513G>A ENST00000329312.4 + 4 834 c.797G>A c.(796-798)aGg>aAg p.R266K NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 266 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 GCATGGTTAAGGAATTACTCA 0.318000 6 29 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124249010 124249010 + Silent SNP C C A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr10:124249010C>A ENST00000368984.3 + 3 773 c.645C>A c.(643-645)atC>atA p.I215I NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 215 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) ATGGACTGATCGTGACAAATG 0.488000 14 68 1.5842e-08 1.72317e-08 1 1 0 ATG13 9776 broad.mit.edu 37 11 46690952 46690952 + Splice_Site SNP A A T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr11:46690952A>T ENST00000434074.1 + 16 2036 c.e16-1 ATG13_ENST00000359513.4_Splice_Site|ATG13_ENST00000451945.1_Splice_Site|ATG13_ENST00000528494.1_Splice_Site|ATG13_ENST00000529655.1_Splice_Site|ATG13_ENST00000312040.4_Splice_Site|ATG13_ENST00000526508.1_Splice_Site|ATG13_ENST00000524625.1_Splice_Site|ATG13_ENST00000530500.1_Splice_Site NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 TTGTTTTTGAAGAAACCAGCT 0.433000 15 98 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157771972 157771972 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr1:157771972G>A ENST00000358292.3 - 5 670 c.619C>T c.(619-621)Cgc>Tgc p.R207C FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.R207C|FCRL1_ENST00000491942.1_Missense_Mutation_p.R207C NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 207 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGGATTGGGCGAGACACCGGG 0.577000 3 44 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280480 105280480 + Missense_Mutation SNP T T A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chrX:105280480T>A ENST00000327674.4 - 1 905 c.570A>T c.(568-570)caA>caT p.Q190H SERPINA7_ENST00000372563.1_Missense_Mutation_p.Q190H P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 190 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GCTTGAGGTCTTGAATTAGAC 0.413000 32 106 0 0 1 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102356620 102356620 + Missense_Mutation SNP G G A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr14:102356620G>A ENST00000422945.2 + 8 865 c.769G>A c.(769-771)Gaa>Aaa p.E257K PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E226K|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.E226K|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.E226K|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E281K|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E226K NM_001161725.1 NP_001155197.1 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma 226 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AGAGTTACTGGAAATATTGGG 0.378000 5 43 0 0 1 0 0 SERTM1 400120 broad.mit.edu 37 13 37269387 37269387 + Missense_Mutation SNP C C T TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr13:37269387C>T ENST00000315190.3 + 2 618 c.172C>T c.(172-174)Ctt>Ttt p.L58F NM_203451.2 NP_982276.2 A2A2V5 CM036_HUMAN serine-rich and transmembrane domain containing 1 58 integral to membrane TCTGCTTCTGCTTTTAATCAT 0.483000 11 105 0 0 1 0 0 EIF2S2 8894 broad.mit.edu 37 20 32685276 32685276 + Silent SNP A A G TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr20:32685276A>G ENST00000374980.2 - 5 701 c.480T>C c.(478-480)agT>agC p.S160S NM_003908.3 NP_003899.2 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa 160 cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 11 CTGTCTGATTACTGAATGAGA 0.408000 8 33 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49570261 49570261 + Frame_Shift_Del DEL A A - TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr3:49570261delA ENST00000545947.1 + 6 3039 c.2317delA c.(2317-2319)tcfs p.I773fs DAG1_ENST00000541308.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000539901.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000515359.2_Frame_Shift_Del_p.I773fs|DAG1_ENST00000538711.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000308775.2_Frame_Shift_Del_p.I773fs NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 773 cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CATTGCCATGATCTGCTACCG 0.557 8 22 --- --- --- --- RGL2 5863 broad.mit.edu 37 6 33260029 33260030 + Frame_Shift_Ins INS - - A TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr6:33260029_33260030insA ENST00000497454.1 - 18 2678_2679 c.2183_2184insT c.(2182-2184)tctfs p.S728fs RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 728 Ras-associating. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 GCCGCAGGAGGAAATCGTGTGA 0.579 24 75 --- --- --- --- ETV1 2115 broad.mit.edu 37 7 14017092 14017092 + Frame_Shift_Del DEL G G - TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr7:14017092delG ENST00000430479.1 - 6 862 c.195delC c.(193-195)gafs p.D65fs ETV1_ENST00000405192.2_Frame_Shift_Del_p.D65fs|ETV1_ENST00000403685.1_Intron|ETV1_ENST00000405218.2_Frame_Shift_Del_p.D65fs|ETV1_ENST00000403527.1_Frame_Shift_Del_p.D25fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000399357.3_Frame_Shift_Del_p.D25fs|ETV1_ENST00000405358.4_Frame_Shift_Del_p.D79fs|ETV1_ENST00000420159.2_Intron|ETV1_ENST00000343495.5_Intron NM_004956.4 NP_004947.2 P50549 ETV1_HUMAN ets variant 1 65 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GCTCATCATTGTCAGGTACCT 0.338 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 2 4 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971207 21971207 + Splice_Site DEL C C - TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr9:21971207delC ENST00000579755.1 - 2 486 c.193_splice c.e2-1 p.G65_splice CDKN2A_ENST00000446177.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000579122.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000361570.3_Splice_Site_p.G106_splice|CDKN2A_ENST00000479692.2_5'UTR|CDKN2A_ENST00000497750.1_5'UTR|CDKN2A_ENST00000494262.1_5'UTR|CDKN2A_ENST00000498124.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000304494.5_Splice_Site_p.V51_splice|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000530628.2_Splice_Site_p.G65_splice|CDKN2A_ENST00000498628.2_5'UTR|RP11-145E5.5_ENST00000404796.2_Intron P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 82 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(48)|p.V51I(2)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) ATCATCATGACCTGCCAGAGA 0.667 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 11 23 --- --- --- --- SVIL 6840 broad.mit.edu 37 10 29751233 29751234 + Frame_Shift_Ins INS - - C TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr10:29751233_29751234insC ENST00000375398.2 - 38 6823_6824 c.6374_6375insG c.(6373-6375)agafs p.R2125fs SVIL_ENST00000375400.3_Frame_Shift_Ins_p.R1699fs|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000355867.4_Frame_Shift_Ins_p.R2125fs|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Ins_p.R1039fs|PTCHD3P1_ENST00000445521.1_RNA O95425 SVIL_HUMAN supervillin 2125 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CGATGTCCTCTCTGTGCTCCCA 0.510 13 83 --- --- --- --- ARHGDIA 396 broad.mit.edu 37 17 79827748 79827749 + Frame_Shift_Ins INS - - C TCGA-D6-A6EM-01A-21D-A31L-08 TCGA-D6-A6EM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94e13190-f323-4d13-8da2-c08933b1a1a3 fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a g.chr17:79827748_79827749insC ENST00000269321.7 - 2 193_194 c.58_59insG c.(58-60)ggafs p.G20fs ARHGDIA_ENST00000584461.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000580685.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000581876.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000541078.2_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000400721.4_Frame_Shift_Ins_p.G20fs NM_001185078.1|NM_004309.4 NP_001172007.1|NP_004300.1 P52565 GDIR1_HUMAN Rho GDP dissociation inhibitor (GDI) alpha 20 anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoskeleton|cytosol GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity endometrium(1)|lung(1)|prostate(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GTGCTCATCCTCCTCGTTCTCC 0.624 23 54 --- --- --- ---