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 BSN 8927 broad.mit.edu 37 3 49662488 49662488 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr3:49662488C>T ENST00000296452.4 + 2 419 c.305C>T c.(304-306)aCc>aTc p.T102I NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 102 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCTTCTGCTACCACTCCTGGC 0.602000 22 46 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86539140 86539140 + Missense_Mutation SNP C C A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr7:86539140C>A ENST00000450689.2 - 16 2532 c.2347G>T c.(2347-2349)Gat>Tat p.D783Y KIAA1324L_ENST00000444627.1_Missense_Mutation_p.D712Y|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D616Y|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D543Y NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 783 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) ATGAATGTATCTGCCAGAATG 0.358000 42 55 3.05275e-18 3.24119e-18 1 1 0 NR1D1 9572 broad.mit.edu 37 17 38252187 38252187 + Missense_Mutation SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr17:38252187G>A ENST00000246672.3 - 5 1388 c.758C>T c.(757-759)tCg>tTg p.S253L NM_021724.3 NP_068370.1 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 253 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 11 Colorectal(19;0.000442) AGGGGGTGGCGAGGGGCCCAT 0.662000 7 20 0 0 1 0 0 PPAN 56342 broad.mit.edu 37 19 10224931 10224931 + Silent SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr19:10224931C>T ENST00000556468.1 + 13 1929 c.1902C>T c.(1900-1902)tgC>tgT p.C634C PPAN-P2RY11_ENST00000393796.4_Silent_p.C634C|P2RY11_ENST00000321826.4_Silent_p.C214C|PPAN-P2RY11_ENST00000428358.1_3'UTR peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GGTTGGGCTGCGGCCTGCCGC 0.711000 17 33 0 0 1 0 0 EPO 2056 broad.mit.edu 37 7 100320382 100320382 + Silent SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr7:100320382G>A ENST00000252723.2 + 4 523 c.342G>A c.(340-342)ccG>ccA p.P114P NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 114 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CTTCCCAGCCGTGGGAGCCCC 0.657000 7 27 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149148162 149148162 + Missense_Mutation SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr7:149148162G>A ENST00000247930.4 - 4 1338 c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 339 Glu-rich.|KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CGCTCCCCGCGCTCCATCTGT 0.537000 33 52 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155219106 155219106 + Silent SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr4:155219106C>T ENST00000357232.3 - 18 4994 c.4995G>A c.(4993-4995)agG>agA p.R1665R NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1665 Cadherin 14. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R1665R(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCGTGGTTGTCCTGGCTGGAA 0.433000 9 34 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21156286 21156286 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr22:21156286C>T ENST00000255882.6 - 14 1785 c.1699G>A c.(1699-1701)Gac>Aac p.D567N PI4KA_ENST00000572273.1_Missense_Mutation_p.D509N NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 509 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) ATAGCGATGTCTCGGAGCTGC 0.483000 25 78 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158592846 158592846 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:158592846C>T ENST00000368148.3 - 43 6227 c.6047G>A c.(6046-6048)cGc>cAc p.R2016H SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R2013H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2016 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R2016H(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGTTCCCAGCGCTTCAGCAG 0.478000 82 186 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74621474 74621474 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr17:74621474C>T ENST00000156626.7 - 9 1940 c.1741G>A c.(1741-1743)Gat>Aat p.D581N NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 581 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 ATCCCTTCATCGTGTAGCCGC 0.532000 5 41 0 0 1 0 0 CHP2 63928 broad.mit.edu 37 16 23767170 23767170 + Missense_Mutation SNP G G A rs147617371 byFrequency TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr16:23767170G>A ENST00000300113.2 + 3 566 c.143G>A c.(142-144)cGc>cAc p.R48H NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 48 EF-hand 1. calcium ion binding p.R48H(1) central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) CTTTGCAGCCGCATGGATCTC 0.567000 9 33 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181680189 181680189 + Silent SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:181680189C>T ENST00000526775.1 + 8 1320 c.1155C>T c.(1153-1155)gcC>gcT p.A385A CACNA1E_ENST00000357570.5_Silent_p.A336A|CACNA1E_ENST00000358338.5_Silent_p.A336A|CACNA1E_ENST00000367570.1_Silent_p.A385A|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.A385A|CACNA1E_ENST00000360108.3_Silent_p.A385A NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 385 Binding to the beta subunit (By similarity). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCTACCGTGCCTGGATAGACA 0.592000 16 44 0 0 1 0 0 NBL1 4681 broad.mit.edu 37 1 19981506 19981506 + Splice_Site SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:19981506G>A ENST00000289749.2 + 2 168 c.86_splice c.e2-1 p.A30_splice MINOS1-NBL1_ENST00000602662.1_5'UTR|NBL1_ENST00000375136.3_5'UTR|NBL1_ENST00000548815.1_5'UTR NM_182744.3 NP_877421.2 P41271 NBL1_HUMAN neuroblastoma 1, DAN family BMP antagonist 0 extracellular region lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCGTTCTAGGGCTCTGGAGGC 0.632000 7 16 0 0 1 0 0 VILL 50853 broad.mit.edu 37 3 38047368 38047368 + Missense_Mutation SNP G G C TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr3:38047368G>C ENST00000283713.6 + 17 2302 c.2036G>C c.(2035-2037)gGg>gCg p.G679A VILL_ENST00000465644.1_Missense_Mutation_p.G397A|VILL_ENST00000383759.2_Missense_Mutation_p.G679A O15195 VILL_HUMAN villin-like 679 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CACCCAGCAGGGAGGAGCCCG 0.612000 29 73 0 0 1 0 0 DPEP2 64174 broad.mit.edu 37 16 68025823 68025823 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr16:68025823C>T ENST00000412757.2 - 6 1245 c.580G>A c.(580-582)Gac>Aac p.D194N DPEP2_ENST00000393847.1_Missense_Mutation_p.D194N|DPEP2_ENST00000572888.1_Missense_Mutation_p.D194N Q9H4A9 DPEP2_HUMAN dipeptidase 2 194 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) AGGCTATTGTCCAGCGAGTGG 0.567000 12 48 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45502929 45502929 + Missense_Mutation SNP G G A rs149129671 byFrequency TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr21:45502929G>A ENST00000291574.4 + 14 2159 c.1984G>A c.(1984-1986)Gca>Aca p.A662T NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 662 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ACCCGAGACCGCACCTTTCCC 0.483000 4 97 0 0 1 0 0 PLRG1 5356 broad.mit.edu 37 4 155467028 155467028 + Missense_Mutation SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr4:155467028G>A ENST00000499023.2 - 6 578 c.452C>T c.(451-453)cCt>cTt p.P151L PLRG1_ENST00000393905.2_Missense_Mutation_p.P151L|PLRG1_ENST00000302078.5_Missense_Mutation_p.P142L NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 151 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) AGAAGCCCCAGGATGTCGGTA 0.423000 12 20 0 0 1 0 0 DDRGK1 65992 broad.mit.edu 37 20 3175950 3175950 + Missense_Mutation SNP T T G TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr20:3175950T>G ENST00000354488.3 - 5 617 c.560A>C c.(559-561)gAg>gCg p.E187A DDRGK1_ENST00000380201.2_Missense_Mutation_p.E187A NM_023935.1 NP_076424.1 Q96HY6 DDRGK_HUMAN DDRGK domain containing 1 187 endoplasmic reticulum protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1) 7 CAGGTACTCCTCATGCTCCCG 0.627000 13 53 0 0 1 0 0 UBQLN4 56893 broad.mit.edu 37 1 156013896 156013896 + Missense_Mutation SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:156013896G>A ENST00000368309.3 - 6 1111 c.1019C>T c.(1018-1020)tCc>tTc p.S340F UBQLN4_ENST00000368307.1_Intron NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 340 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) GGGGGCCTGGGAGGTGGGGGG 0.687000 8 15 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51705355 51705355 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr8:51705355C>T ENST00000522124.1 + 19 2181 c.1520C>T c.(1519-1521)tCt>tTt p.S507F SNTG1_ENST00000518864.1_Missense_Mutation_p.S507F|SNTG1_ENST00000276467.5_Missense_Mutation_p.S470F|SNTG1_ENST00000517473.1_Missense_Mutation_p.S470F NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 507 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) GCTGCCAGCTCTGCTACCACG 0.428000 21 52 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37646964 37646964 + Nonsense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr17:37646964C>T ENST00000447079.4 + 3 2119 c.2086C>T c.(2086-2088)Caa>Taa p.Q696* CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q696* NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 696 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 ACCACCTCAGCAACCATATAA 0.448000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 14 22 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142272702 142272702 + Nonsense_Mutation SNP C C A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr3:142272702C>A ENST00000350721.4 - 11 2618 c.2497G>T c.(2497-2499)Gaa>Taa p.E833* ATR_ENST00000383101.3_Nonsense_Mutation_p.E769* NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 833 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TCCAAGGATTCCAATATGTGC 0.313000 Other conserved DNA damage response genes 7 33 0.307466 0.307466 1 1 0 HSPA8 3312 broad.mit.edu 37 11 122931348 122931348 + Missense_Mutation SNP T T C TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr11:122931348T>C ENST00000534624.1 - 3 640 c.364A>G c.(364-366)Atg>Gtg p.M122V HSPA8_ENST00000453788.2_Missense_Mutation_p.M122V|HSPA8_ENST00000227378.3_Missense_Mutation_p.M122V|HSPA8_ENST00000526110.1_Missense_Mutation_p.M122V|HSPA8_ENST00000532636.1_Missense_Mutation_p.M122V|HSPA8_ENST00000533540.1_Intron NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 122 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GTCAGAACCATAGAAGACACC 0.473000 13 66 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486381 94486381 + Missense_Mutation SNP G G C rs141235720 byFrequency TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr9:94486381G>C ENST00000375708.3 - 9 2593 c.2395C>G c.(2395-2397)Ccc>Gcc p.P799A ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 799 Pro-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.P799S(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 ATGAACTGGGGCTGTGGGAAG 0.672000 20 32 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43909116 43909116 + Missense_Mutation SNP C C T rs146439294 TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:43909116C>T ENST00000562955.1 + 60 8422 c.8422C>T c.(8422-8424)Ccc>Tcc p.P2808S SZT2_ENST00000372442.1_Missense_Mutation_p.P1966S NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2865 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GCTGCATGGGCCCCCAGAGAC 0.627000 14 14 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22389682 22389682 + Silent SNP G G A rs146569496 TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr4:22389682G>A ENST00000334304.5 - 19 3881 c.3612C>T c.(3610-3612)aaC>aaT p.N1204N GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1204 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TAGGTAAGCCGTTCTGCACGC 0.522000 58 85 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 887225 887225 + Silent SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr4:887225C>T ENST00000314167.4 - 9 1040 c.930G>A c.(928-930)gtG>gtA p.V310V GAK_ENST00000511163.1_Silent_p.V231V NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 310 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GCAGCTGGTGCACCACCTCGG 0.687000 6 40 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128446848 128446848 + Missense_Mutation SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr7:128446848G>A ENST00000297788.4 + 9 1722 c.1355G>A c.(1354-1356)tGc>tAc p.C452Y CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Missense_Mutation_p.C399Y NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 452 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GAGCTGCAGTGCCATGAGGCA 0.577000 7 13 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117805041 117805041 + Missense_Mutation SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chrX:117805041G>A ENST00000276204.6 + 46 5206 c.5132G>A c.(5131-5133)cGt>cAt p.R1711H DOCK11_ENST00000276202.7_Missense_Mutation_p.R1711H Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1711 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AAGGCAGAACGTTATGAAATA 0.348000 24 14 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42187837 42187837 + Silent SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr19:42187837G>A ENST00000006724.3 - 3 786 c.585C>T c.(583-585)tcC>tcT p.S195S CEACAM7_ENST00000401731.1_Silent_p.S195S|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 195 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TGTTGTCAGTGGAGAGCAGCA 0.512000 41 76 0 0 1 0 0 ZFP57 346171 broad.mit.edu 37 6 29640720 29640720 + Missense_Mutation SNP A A G TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr6:29640720A>G ENST00000376883.1 - 6 1519 c.1108T>C c.(1108-1110)Tct>Cct p.S370P ZFP57_ENST00000376881.3_Missense_Mutation_p.S370P|ZFP57_ENST00000488757.1_Missense_Mutation_p.S390P Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 306 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 AAAGTCAAAGAACAATGGGGG 0.517000 90 171 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3134559 3134559 + Missense_Mutation SNP C C T rs140979048 by1000genomes TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr4:3134559C>T ENST00000355072.5 + 18 2559 c.2414C>T c.(2413-2415)gCg>gTg p.A805V NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 805 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TTTTCTTTGGCGGATTGCATT 0.383000 69 88 0 0 1 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102391492 102391492 + Silent SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr14:102391492G>A ENST00000422945.2 + 16 1647 c.1551G>A c.(1549-1551)ccG>ccA p.P517P PPP2R5C_ENST00000350249.3_Silent_p.P447P|PPP2R5C_ENST00000334743.5_Silent_p.P486P|PPP2R5C_ENST00000328724.5_Silent_p.P502P NM_001161725.1 NP_001155197.1 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma 486 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 AGAAAGATCCGAAGAAGGACC 0.522000 32 135 0 0 1 0 0 IFNA17 3451 broad.mit.edu 37 9 21228107 21228107 + Silent SNP T T C TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr9:21228107T>C ENST00000413767.2 - 1 114 c.66A>G c.(64-66)ctA>ctG p.L22L NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 22 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GATCACAGCCTAGAGAACAGA 0.502000 4 92 0 0 1 0 0 SGSM3 27352 broad.mit.edu 37 22 40803533 40803533 + Silent SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr22:40803533C>T ENST00000248929.9 + 13 1674 c.1485C>T c.(1483-1485)gaC>gaT p.D495D SGSM3_ENST00000454798.2_Silent_p.D428D NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 495 SH3. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 AGCGGCACGACGACGACGAGC 0.657000 3 30 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249967 52249967 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr19:52249967C>T ENST00000595042.1 - 3 422 c.281G>A c.(280-282)gGc>gAc p.G94D FPR1_ENST00000304748.4_Missense_Mutation_p.G94D NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 94 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) CAGGAACCAGCCGAAAGGCCA 0.517000 21 33 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11323863 11323863 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr19:11323863C>T ENST00000294618.7 - 35 4491 c.4480G>A c.(4480-4482)Gag>Aag p.E1494K DOCK6_ENST00000319867.7_Missense_Mutation_p.E833K|CTC-510F12.2_ENST00000588634.1_RNA NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1494 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 TGGCCGATCTCGAAGTTCTGT 0.642000 8 29 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16893709 16893709 + Missense_Mutation SNP T T C TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:16893709T>C ENST00000430580.2 - 25 3691 c.2804A>G c.(2803-2805)gAg>gGg p.E935G NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 935 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ACGCTGTTGCTCCAATATGTA 0.458000 28 2448 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 4 86 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22846975 22846975 + Silent SNP C C A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr19:22846975C>A ENST00000456783.2 + 4 748 c.504C>A c.(502-504)ccC>ccA p.P168P NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) GAGAGAAACCCTACAAATGTA 0.338000 4 12 0.014758 0.0151094 1 1 0 GRIA1 0 broad.mit.edu 37 5 152870478 152870478 + Silent SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr5:152870478C>T ENST00000285900.5 + 1 373 c.30C>T c.(28-30)acC>acT p.T10T GRIA1_ENST00000518862.1_Intron|GRIA1_ENST00000518142.1_Silent_p.T10T|GRIA1_ENST00000340592.5_Silent_p.T10T NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 10 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCTTCTGCACCGGTTTCCTAG 0.527000 4 280 0 0 1 0 0 METTL9 51108 broad.mit.edu 37 16 21629323 21629323 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr16:21629323C>T ENST00000358154.3 + 3 752 c.494C>T c.(493-495)cCt>cTt p.P165L METTL9_ENST00000396014.4_Missense_Mutation_p.P165L NM_001077180.1|NM_016025.3 NP_001070648.1|NP_057109.3 Q9H1A3 METL9_HUMAN methyltransferase like 9 165 p.P165H(1) endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1) 7 GBM - Glioblastoma multiforme(48;0.0759) ATCATGAGCCCTCATTTTGAA 0.368000 31 98 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200137089 200137089 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr2:200137089C>T ENST00000443023.1 - 10 3335 c.1870G>A c.(1870-1872)Gcg>Acg p.A624T SATB2_ENST00000457245.1_Missense_Mutation_p.A683T|SATB2_ENST00000260926.5_Missense_Mutation_p.A683T|SATB2_ENST00000417098.1_Missense_Mutation_p.A683T|SATB2_ENST00000428695.1_Missense_Mutation_p.A565T Q9UPW6 SATB2_HUMAN SATB homeobox 2 683 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ACGTCCACCGCGGAGCCCAGG 0.572000 23 66 0 0 1 0 0 CC2D2A 57545 broad.mit.edu 37 4 15564984 15564984 + Silent SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr4:15564984G>A ENST00000424120.1 + 24 3275 c.3021G>A c.(3019-3021)ttG>ttA p.L1007L CC2D2A_ENST00000503292.1_Silent_p.L1007L|CC2D2A_ENST00000389652.5_Silent_p.L958L|CC2D2A_ENST00000413206.1_Silent_p.L1007L Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 1007 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 TTAGCATTTTGGGCCTAAGCC 0.488000 4 6 0 0 1 0 0 TAP1 6890 broad.mit.edu 37 6 32815728 32815728 + Missense_Mutation SNP G G T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr6:32815728G>T ENST00000354258.4 - 8 2049 c.1888C>A c.(1888-1890)Ccc>Acc p.P630T TAP1_ENST00000425148.2_Missense_Mutation_p.P369T|PSMB9_ENST00000395330.1_Intron NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 630 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 TCATATTGGGGAAGGGGCTTC 0.582000 22 68 7.41877e-09 7.78066e-09 1 1 0 KDM4B 23030 broad.mit.edu 37 19 5041160 5041160 + Silent SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr19:5041160G>A ENST00000159111.4 + 5 548 c.330G>A c.(328-330)ccG>ccA p.P110P KDM4B_ENST00000536461.1_Silent_p.P110P|KDM4B_ENST00000381759.4_Silent_p.P110P NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 110 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 ACTGTACCCCGCGGCACCAGG 0.577000 28 92 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23689453 23689453 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr12:23689453C>T ENST00000546136.1 - 13 1885 c.1883G>A c.(1882-1884)cGc>cAc p.R628H SOX5_ENST00000545921.1_Missense_Mutation_p.R631H|SOX5_ENST00000381381.2_Missense_Mutation_p.R520H|SOX5_ENST00000309359.1_Missense_Mutation_p.R628H|SOX5_ENST00000541536.1_Missense_Mutation_p.R520H|SOX5_ENST00000451604.2_Missense_Mutation_p.R641H|SOX5_ENST00000396007.2_Missense_Mutation_p.R255H|SOX5_ENST00000537393.1_Missense_Mutation_p.R606H P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 641 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 TTCACCAATGCGCAGCTTTTT 0.517000 14 36 0 0 1 0 0 RAB8B 51762 broad.mit.edu 37 15 63555769 63555769 + Missense_Mutation SNP C C A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr15:63555769C>A ENST00000321437.4 + 8 731 c.575C>A c.(574-576)aCa>aAa p.T192K RAB8B_ENST00000448330.2_Missense_Mutation_p.T175K NM_016530.2 NP_057614.1 Q92930 RAB8B_HUMAN RAB8B, member RAS oncogene family 192 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 GTGAAAATAACAGAAAACCGA 0.423000 4 48 0.000602214 0.000623981 1 1 0 OR52J3 119679 broad.mit.edu 37 11 5068207 5068207 + Missense_Mutation SNP T T C TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr11:5068207T>C ENST00000380370.1 + 1 452 c.452T>C c.(451-453)gTa>gCa p.V151A NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V151A(1) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGTGCATTGTAATTCGTCCC 0.473000 9 38 0 0 1 0 0 CERK 64781 broad.mit.edu 37 22 47085927 47085927 + Silent SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr22:47085927G>A ENST00000216264.8 - 12 1615 c.1503C>T c.(1501-1503)tgC>tgT p.C501C CERK_ENST00000541677.1_Silent_p.C303C NM_022766.5 NP_073603.2 Q8TCT0 CERK1_HUMAN ceramide kinase 501 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 20 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCTCCCCGTCGCAGTTCCAGG 0.647000 14 14 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76868015 76868015 + Missense_Mutation SNP C C A rs41298133 by1000genomes TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr11:76868015C>A ENST00000409709.3 + 7 972 c.700C>A c.(700-702)Cag>Aag p.Q234K MYO7A_ENST00000458637.2_Missense_Mutation_p.Q234K|MYO7A_ENST00000409619.2_Missense_Mutation_p.Q223K|MYO7A_ENST00000409893.1_Missense_Mutation_p.Q234K NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 234 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GAAGATTGAGCAGTACCTGCT 0.597000 4 61 0.184627 0.186799 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276296 186276296 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:186276296C>T ENST00000445192.2 + 7 1490 c.1445C>T c.(1444-1446)cCt>cTt p.P482L PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P439L|PRG4_ENST00000367485.4_Missense_Mutation_p.P389L|PRG4_ENST00000367483.4_Missense_Mutation_p.P441L NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 482 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCCAAAGAGCCTGCACCCACT 0.647000 25 44 0 0 1 0 0 SHARPIN 81858 broad.mit.edu 37 8 145154289 145154289 + Silent SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr8:145154289G>A ENST00000398712.2 - 6 1249 c.813C>T c.(811-813)gtC>gtT p.V271V NM_030974.3 NP_112236.3 Q9H0F6 SHRPN_HUMAN SHANK-associated RH domain interactor 271 Interaction with SHANK1 (By similarity).|Ubiquitin-like. negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCGTCCGATGACCCAGCGTT 0.632000 17 59 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54445483 54445483 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr19:54445483C>T ENST00000391767.1 + 6 976 c.764C>T c.(763-765)aCg>aTg p.T255M CACNG7_ENST00000222212.2_Missense_Mutation_p.T255M P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 255 GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) ATCCAAATGACGCAGAACTAC 0.687000 19 162 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418538 55418538 + Missense_Mutation SNP T T G TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr11:55418538T>G ENST00000312422.2 + 1 159 c.159T>G c.(157-159)ttT>ttG p.F53L NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) GCAACCTGTTTAAGTCACCCA 0.393000 4 85 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292770 102292770 + RNA SNP C C T rs149751844 by1000genomes TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr15:102292770C>T ENST00000561463.1 + 0 816 AGCGGCGCGACGAGATGCTGC 0.597000 3 42 0 0 1 0 0 GOLGA2B 0 broad.mit.edu 37 12 100562731 100562731 + RNA SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr12:100562731G>A ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 GCCTGAGGGCGTCTCTCTCTT 0.542000 5 57 0 0 1 0 0 GJB5 2709 broad.mit.edu 37 1 35223665 35223665 + Missense_Mutation SNP C C T rs148092547 TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:35223665C>T ENST00000338513.1 + 2 907 c.734C>T c.(733-735)tCg>tTg p.S245L NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 245 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) GACCTCCTTTCGGGTGACCTC 0.567000 16 45 0 0 1 0 0 SYT15 83849 broad.mit.edu 37 10 46967543 46967543 + Silent SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr10:46967543C>T ENST00000374323.3 - 3 1280 c.693G>A c.(691-693)tcG>tcA p.S231S SYT15_ENST00000503753.1_Silent_p.S178S|SYT15_ENST00000374325.3_Silent_p.S178S|SYT15_ENST00000374321.4_Silent_p.S178S Q9BQS2 SYT15_HUMAN synaptotagmin XV 178 C2 1. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 TGCAGGTCTCCGAGGGGGCTT 0.627000 5 56 0 0 1 0 0 RUFY4 285180 broad.mit.edu 37 2 218940430 218940430 + Silent SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr2:218940430G>A ENST00000374155.3 + 8 1685 c.1275G>A c.(1273-1275)gaG>gaA p.E425E RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Silent_p.E405E|RUFY4_ENST00000463872.1_3'UTR Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 405 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GAAGGGAGGAGCAAGCCGAGG 0.562000 10 69 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 43 0 0 1 0 0 PTPLA 9200 broad.mit.edu 37 10 17645744 17645744 + Splice_Site SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr10:17645744C>T ENST00000361271.3 - 3 413 c.e3-1 NM_014241.3 NP_055056.3 B0YJ81 HACD1_HUMAN protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A fatty acid biosynthetic process|multicellular organismal development|signal transduction endoplasmic reticulum membrane|integral to membrane lyase activity|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1) 13 AGTGAACTATCTGTAAGCAAA 0.284000 6 50 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44763153 44763153 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr3:44763153C>T ENST00000296091.4 + 4 1100 c.844C>T c.(844-846)Ctt>Ttt p.L282F ZNF502_ENST00000449836.1_Missense_Mutation_p.L282F|ZNF502_ENST00000436624.2_Missense_Mutation_p.L282F NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) GAATACACACCTTATTCATCA 0.413000 29 179 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50214009 50214009 + Silent SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr19:50214009G>A ENST00000392518.4 + 16 2133 c.1761G>A c.(1759-1761)gaG>gaA p.E587E CPT1C_ENST00000323446.5_Silent_p.E587E|CPT1C_ENST00000598293.1_Silent_p.E587E|CPT1C_ENST00000354199.5_Silent_p.E587E|CPT1C_ENST00000405931.2_Silent_p.E576E NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 587 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TGACTTATGAGTCGGCCATGA 0.567000 18 47 0 0 1 0 0 CAMKK1 84254 broad.mit.edu 37 17 3786382 3786382 + Missense_Mutation SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr17:3786382G>A ENST00000381771.2 - 6 749 c.602C>T c.(601-603)gCc>gTc p.A201V CAMKK1_ENST00000158166.5_Missense_Mutation_p.A201V|CAMKK1_ENST00000381769.2_Missense_Mutation_p.A228V|CAMKK1_ENST00000348335.2_Missense_Mutation_p.A201V Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase kinase 1, alpha 201 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) CTTCAGGATGGCAATCTCCTG 0.632000 3 47 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276272 186276272 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:186276272C>T ENST00000445192.2 + 7 1466 c.1421C>T c.(1420-1422)cCt>cTt p.P474L PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P431L|PRG4_ENST00000367485.4_Missense_Mutation_p.P381L|PRG4_ENST00000367483.4_Missense_Mutation_p.P433L NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 474 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCAAGGAGCCTGCACCCACC 0.647000 14 46 0 0 1 0 0 RPS20 6224 broad.mit.edu 37 8 56986676 56986676 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr8:56986676C>T ENST00000519807.1 - 2 171 c.46G>A c.(46-48)Gca>Aca p.A16T RPS20_ENST00000009589.3_Missense_Mutation_p.A16T|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000518875.1_Missense_Mutation_p.A16T|RPS20_ENST00000519606.1_Missense_Mutation_p.A16T|RPS20_ENST00000521262.1_Missense_Mutation_p.A16T|RPS20_ENST00000523936.1_Missense_Mutation_p.A16T NM_001146227.1 NP_001139699.1 P60866 RS20_HUMAN ribosomal protein S20 16 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) CGGTGAATTGCCACCTCCGGC 0.473000 4 135 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43821106 43821106 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr15:43821106C>T ENST00000382031.1 + 5 8180 c.8149C>T c.(8149-8151)Cgg>Tgg p.R2717W MAP1A_ENST00000300231.5_Missense_Mutation_p.R2479W|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2479W P78559 MAP1A_HUMAN microtubule-associated protein 1A 2479 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.R2479W(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AAGAGGGGGGCGGCGCCGGGT 0.622000 18 43 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147744151 147744151 + Missense_Mutation SNP C C G TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chrX:147744151C>G ENST00000370460.2 + 3 1382 c.903C>G c.(901-903)atC>atG p.I301M AFF2_ENST00000342251.3_Missense_Mutation_p.I297M|AFF2_ENST00000370457.5_Missense_Mutation_p.I297M|AFF2_ENST00000370458.1_Missense_Mutation_p.I297M NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 301 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CACCGGACATCTCACCAACAC 0.483000 37 10 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116798051 116798051 + Missense_Mutation SNP C C G TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr11:116798051C>G ENST00000375300.1 - 4 505 c.500G>C c.(499-501)cGg>cCg p.R167P SIK3_ENST00000292055.4_Missense_Mutation_p.R109P|SIK3_ENST00000542607.1_Missense_Mutation_p.R109P|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.R8P|SIK3_ENST00000446921.2_Missense_Mutation_p.R167P Q9Y2K2 SIK3_HUMAN SIK family kinase 3 109 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 TTTGAACTTCCGACGTGCCTC 0.413000 31 56 0 0 1 0 0 INHA 3623 broad.mit.edu 37 2 220437228 220437228 + Silent SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr2:220437228C>T ENST00000243786.2 + 1 312 c.132C>T c.(130-132)ccC>ccT p.P44P INHA_ENST00000489456.1_Intron NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha 44 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TGGGGCCCCCCGCGGTGACCA 0.687000 OREG0003991 type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 4 0 0 1 0 0 RASL10A 10633 broad.mit.edu 37 22 29709922 29709922 + Missense_Mutation SNP C C T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr22:29709922C>T ENST00000401450.3 - 2 719 c.274G>A c.(274-276)Gtc>Atc p.V92I RASL10A_ENST00000216101.6_Missense_Mutation_p.V92I|RASL10A_ENST00000474590.1_5'UTR Q92737 RSLAA_HUMAN RAS-like, family 10, member A 92 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1) 1 ATGTCGTAGACGAGCACGAAG 0.642000 10 24 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19468211 19468211 + Missense_Mutation SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:19468211G>A ENST00000375267.2 - 56 8243 c.8240C>T c.(8239-8241)cCg>cTg p.P2747L UBR4_ENST00000375254.3_Missense_Mutation_p.P2747L|UBR4_ENST00000375217.2_Missense_Mutation_p.P2775L|UBR4_ENST00000375226.2_Missense_Mutation_p.P2758L Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2747 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACCACCATTCGGGATCCCTGA 0.512000 16 55 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235840908 235840908 + Missense_Mutation SNP T T C TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:235840908T>C ENST00000389794.3 - 49 10986 c.10812A>G c.(10810-10812)atA>atG p.I3604M LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.I3604M Q99698 LYST_HUMAN lysosomal trafficking regulator 3604 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCTCCATTTCTATTTCTGATG 0.328000 22 50 0 0 1 0 0 SLX4IP 128710 broad.mit.edu 37 20 10603340 10603340 + Silent SNP G G A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr20:10603340G>A ENST00000334534.5 + 8 720 c.540G>A c.(538-540)acG>acA p.T180T NM_001009608.1 NP_001009608.1 SLX4 interacting protein GCAGTGTCACGAGCAAATCGC 0.433000 15 41 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27742572 27742573 + Frame_Shift_Del DEL TT TT - TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:27742572_27742573delTT ENST00000430629.2 - 5 658_659 c.443_444delAA c.(442-444)afs p.K148fs WASF2_ENST00000536657.1_Frame_Shift_Del_p.K148fs NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 148 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) CTGTGTAGAATTTGAGTGCCTC 0.441 18 92 --- --- --- --- IRF6 3664 broad.mit.edu 37 1 209963883 209963890 + Frame_Shift_Del DEL TCTCTCAA TCTCTCAA - rs121434231 TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr1:209963883_209963890delTCTCTCAA ENST00000367021.3 - 7 1182_1189 c.1010_1017delTTGAGAGA c.(1009-1017)afs p.IER337fs IRF6_ENST00000542854.1_Frame_Shift_Del_p.IER242fs NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 337 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CCTTCTTTTGTCTCTCAATCAGGTTGGG 0.481 HNSCC(57;0.16) 14 52 --- --- --- --- ANKAR 150709 broad.mit.edu 37 2 190541783 190541786 + Frame_Shift_Del DEL AAAT AAAT - TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr2:190541783_190541786delAAAT ENST00000520309.1 + 2 655_658 c.567_570delAAAT c.(565-570)acfs p.TN189fs ANKAR_ENST00000313581.4_Frame_Shift_Del_p.TN189fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.TN189fs|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.TN118fs|ANKAR_ENST00000461516.1_Intron NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 189 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AACCTCAAACAAATAAAGACATTT 0.348 19 35 --- --- --- --- CCR3 1232 broad.mit.edu 37 3 46306948 46306948 + Frame_Shift_Del DEL T T - TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr3:46306948delT ENST00000357422.2 + 4 842 c.299delT c.(298-300)gtfs p.V100fs CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 100 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CATAACTGGGTTTTTGGCCAT 0.488 7 202 --- --- --- --- FAM86JP 0 broad.mit.edu 37 3 125642556 125642557 + RNA INS - - C rs112362688 TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr3:125642556_125642557insC ENST00000485843.1 + 0 332 NR_024251.1 ATCATCTCCCAGGCATCACAGG 0.579 8 13 --- --- --- --- PIGG 54872 broad.mit.edu 37 4 494202 494203 + Frame_Shift_Ins INS - - CCACGCTG TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr4:494202_494203insCCACGCTG ENST00000453061.2 + 2 278_279 c.172_173insCCACGCTG c.(172-174)cacfs p.H58fs PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Frame_Shift_Ins_p.H58fs|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Frame_Shift_Ins_p.H58fs|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 58 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 TTCTAACTGGACCACGCTGCCA 0.401 11 77 --- --- --- --- SMARCAD1 56916 broad.mit.edu 37 4 95200079 95200080 + Frame_Shift_Ins INS - - A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr4:95200079_95200080insA ENST00000457823.2 + 19 2577_2578 c.2302_2303insA c.(2302-2304)aaafs p.K768fs SMARCAD1_ENST00000354268.4_Splice_Site|SMARCAD1_ENST00000509418.1_Splice_Site NM_001128429.2|NM_020159.4 NP_001121901.1|NP_064544.2 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 766 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TTGAGTCACAGAAAAAAACACA 0.317 17 33 --- --- --- --- CCDC132 55610 broad.mit.edu 37 7 92970865 92970866 + Frame_Shift_Del DEL AG AG - TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr7:92970865_92970866delAG ENST00000544910.1 + 24 2315_2316 c.2095_2096delAG c.(2095-2097)afs p.R699fs CCDC132_ENST00000535481.1_Frame_Shift_Del_p.R449fs|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.R540fs|CCDC132_ENST00000305866.5_Frame_Shift_Del_p.R729fs|CCDC132_ENST00000474412.1_3'UTR NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 729 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GTTGGCAGAAAGAGTGGTAGCC 0.411 22 78 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151877140 151877140 + Frame_Shift_Del DEL C C - TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr7:151877140delC ENST00000355193.2 - 37 7439 c.7221delG c.(7219-7221)ggfs p.G2407fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.G2407fs lysine (K)-specific methyltransferase 2C AGTCCTGTGACCCCTTCTCCT 0.522 57 230 --- --- --- --- ZNF658 26149 broad.mit.edu 37 9 40789482 40789483 + Splice_Site INS - - A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr9:40789482_40789483insA ENST00000602553.1 - 2 94 c.e2-2 ZNF658_ENST00000377626.3_Intron|ZNF658_ENST00000441795.1_Splice_Site Q5TYW1 ZN658_HUMAN zinc finger protein 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTCATGTGCCTAAAAAAAAAAA 0.426 2 4 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37627854 37627855 + Frame_Shift_Ins INS - - A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr17:37627854_37627855insA ENST00000447079.4 + 2 1802_1803 c.1769_1770insA c.(1768-1770)taafs p.*590fs CDK12_ENST00000430627.2_Frame_Shift_Ins_p.*590fs NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 590 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TCTACTCACTCAAAGACATCTG 0.485 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 58 120 --- --- --- --- KDM4B 23030 broad.mit.edu 37 19 5040011 5040012 + Frame_Shift_Ins INS - - A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr19:5040011_5040012insA ENST00000159111.4 + 4 524_525 c.306_307insA c.(304-309)gcacagfs p.Q103fs KDM4B_ENST00000381759.4_Frame_Shift_Ins_p.Q103fs|KDM4B_ENST00000536461.1_Frame_Shift_Ins_p.Q103fs NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 103 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GCCGCCTGGCCAACAGCGAGAA 0.693 13 38 --- --- --- --- CLASRP 11129 broad.mit.edu 37 19 45567607 45567609 + In_Frame_Del DEL CTC CTC - TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chr19:45567607_45567609delCTC ENST00000544944.2 + 12 1820_1822 c.1128_1130delCTC c.(1126-1131)cgc>cg p.RS376del CLASRP_ENST00000391953.4_In_Frame_Del_p.RS314del|CLASRP_ENST00000221455.3_In_Frame_Del_p.RS376del Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 376 Arg-rich. mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 GCAGCCGCCGctcctcctcctcc 0.744 2 4 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50345633 50345634 + Splice_Site INS - - T TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4aeba7a2-387f-41b0-ba7d-24d6c0c96b22 caacdc42-537a-470f-b215-c0727d083e42 g.chrX:50345633_50345634insT ENST00000376020.2 - 7 3966_3967 c.3942_splice c.e7+1 p.N1314_splice SHROOM4_ENST00000460112.3_Splice_Site_p.N1198_splice|SHROOM4_ENST00000289292.7_Splice_Site_p.N1314_splice NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1314 ASD2. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding p.K1314fs*23(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) AAAACTTTACCTTTTTTTGAGC 0.450 32 23 --- --- --- ---