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 GALNTL6 442117 broad.mit.edu 37 4 173269794 173269794 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:173269794G>A ENST00000506823.1 + 5 1164 c.507G>A c.(505-507)ggG>ggA p.G169G GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Silent_p.G152G NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 169 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GAACCCCAGGGAGTCTGATAG 0.403000 14 29 0 0 0.000219431 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22828982 22828982 + Missense_Mutation SNP T T A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr10:22828982T>A ENST00000376573.4 - 9 1286 c.1058A>T c.(1057-1059)tAc>tTc p.Y353F PIP4K2A_ENST00000545335.1_Missense_Mutation_p.Y294F|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.Y213F NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 353 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 TGCCATGAAGTACACCTCCTT 0.478000 37 91 0 0 0.00111076 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31839041 31839041 + Missense_Mutation SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr22:31839041T>C ENST00000397525.1 - 16 2336 c.2113A>G c.(2113-2115)Atg>Gtg p.M705V EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.M681V|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.M531V|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.M705V|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.M360V NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 705 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTCTCGTACATCTTACGAATC 0.458000 16 49 0 0 0.000422831 0 0 ALK 238 broad.mit.edu 37 2 29917721 29917721 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:29917721G>C ENST00000389048.3 - 3 1853 c.947C>G c.(946-948)cCc>cGc p.P316R ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 316 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CTTACCTCTGGGCATCTCCTT 0.587000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 25 80 0 0 0.001512 0 0 ECI2 10455 broad.mit.edu 37 6 4117578 4117578 + Nonsense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:4117578C>T ENST00000465828.1 - 9 1188 c.903G>A c.(901-903)tgG>tgA p.W301* C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000413766.2_Nonsense_Mutation_p.W164*|ECI2_ENST00000380118.3_Nonsense_Mutation_p.W331*|ECI2_ENST00000380125.2_Nonsense_Mutation_p.W301*|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000361538.2_Nonsense_Mutation_p.W301* O75521 ECI2_HUMAN enoyl-CoA delta isomerase 2 331 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 TCAGCCTGGTCCAGACTTCTT 0.383000 34 54 0 0 0.00111076 0 0 PLD5 200150 broad.mit.edu 37 1 242253336 242253336 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:242253336C>T ENST00000536534.2 - 10 1672 c.1431G>A c.(1429-1431)agG>agA p.R477R PLD5_ENST00000427495.1_Silent_p.R415R|PLD5_ENST00000442594.2_Silent_p.R385R Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TTCTGTTGTTCCTCACATCTG 0.423000 6 98 0 0 8.12818e-05 0 0 S100PBP 64766 broad.mit.edu 37 1 33292110 33292110 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:33292110C>G ENST00000373475.5 + 3 664 c.410C>G c.(409-411)tCt>tGt p.S137C S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.S137C|S100PBP_ENST00000398243.3_Missense_Mutation_p.S137C NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 137 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AACAGACGCTCTGTACTAGAA 0.418000 5 31 0 0 8.12818e-05 0 0 FSTL4 23105 broad.mit.edu 37 5 132736544 132736544 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr5:132736544G>A ENST00000265342.7 - 4 544 c.295C>T c.(295-297)Cct>Tct p.P99S NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 99 Kazal-like. extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCGCACACAGGCACGTAGCTG 0.602000 19 46 0 0 0.00152264 0 0 EEF2K 29904 broad.mit.edu 37 16 22269882 22269882 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:22269882C>T ENST00000263026.5 + 10 1571 c.1097C>T c.(1096-1098)tCt>tTt p.S366F NM_013302.3 NP_037434 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 366 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) AGGACCCTCTCTGGGAGCCGG 0.547000 30 68 0 0 0.00178596 0 0 EXT2 2132 broad.mit.edu 37 11 44135765 44135765 + Silent SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:44135765G>C ENST00000395673.3 + 4 812 c.756G>C c.(754-756)acG>acC p.T252T EXT2_ENST00000358681.4_Silent_p.T219T|EXT2_ENST00000343631.3_Silent_p.T219T|EXT2_ENST00000533608.1_Silent_p.T219T|EXT2_ENST00000529186.1_3'UTR NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 219 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 GCTTTTCTACGTGGACTTACC 0.473000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 7 94 0 0 8.12818e-05 0 0 SDK2 54549 broad.mit.edu 37 17 71394562 71394562 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:71394562C>T ENST00000392650.3 - 23 3100 c.3100G>A c.(3100-3102)Gtg>Atg p.V1034M SDK2_ENST00000388726.3_Missense_Mutation_p.V1034M NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1034 Fibronectin type-III 5. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TCCCCAACCACGCCTACCTGG 0.627000 10 110 0 0 0.000442599 0 0 F10 2159 broad.mit.edu 37 13 113795343 113795343 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr13:113795343G>C ENST00000375559.3 + 5 519 c.481G>C c.(481-483)Ggc>Cgc p.G161R F10_ENST00000375551.3_Missense_Mutation_p.G161R|F10_ENST00000409306.1_Missense_Mutation_p.G161R NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 161 EGF-like 2. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCTGACAACGGCAAGGCCTG 0.682000 4 46 0 0 0.000602214 0 0 ITPR2 3709 broad.mit.edu 37 12 26818878 26818878 + Nonsense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:26818878G>A ENST00000381340.3 - 14 1932 c.1516C>T c.(1516-1518)Caa>Taa p.Q506* NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 506 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ATCAATTTTTGACGCTCTCGG 0.348000 9 67 0 0 0.000442599 0 0 HMHA1 23526 broad.mit.edu 37 19 1080434 1080434 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr19:1080434C>T ENST00000536472.1 + 13 1642 c.1404C>T c.(1402-1404)ggC>ggT p.G468G HMHA1_ENST00000586866.1_Intron|HMHA1_ENST00000313093.2_Intron|HMHA1_ENST00000590214.1_Intron|HMHA1_ENST00000590577.1_Intron|HMHA1_ENST00000543365.1_Intron|HMHA1_ENST00000539243.2_Intron Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 609 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCACCCTGGCCCTTCACCAG 0.677000 13 61 0 0 0.000308642 0 0 ATP8A1 10396 broad.mit.edu 37 4 42596348 42596348 + Missense_Mutation SNP C C A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:42596348C>A ENST00000264449.10 - 7 701 c.482G>T c.(481-483)gGc>gTc p.G161V ATP8A1_ENST00000381668.5_Intron NM_001105529.1 NP_001098999.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 161 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) ATACTCTTTGCCTTTTATTAT 0.363000 10 75 2.17888e-05 0.00018783 0.000442599 1 0 HIST1H2BF 8343 broad.mit.edu 37 6 26200019 26200019 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:26200019C>G ENST00000359985.1 + 1 272 c.233C>G c.(232-234)gCt>gGt p.A78G NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 78 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) GCTGGCGAGGCTTCCCGCCTG 0.622000 17 142 0 0 0.00074312 0 0 A2ML1 144568 broad.mit.edu 37 12 9020633 9020633 + Nonsense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:9020633C>T ENST00000299698.7 + 30 4093 c.3913C>T c.(3913-3915)Cag>Tag p.Q1305* A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q814* NM_001282424.1|NM_144670.4 NP_001269353.1|NP_653271 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1149 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GGCCTCAGGCCAGGGCTGTGT 0.507000 8 73 0 0 0.000274275 0 0 PIK3CB 5291 broad.mit.edu 37 3 138478132 138478132 + Nonsense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:138478132C>T ENST00000477593.1 - 2 127 c.54G>A c.(52-54)tgG>tgA p.W18* PIK3CB_ENST00000289153.2_Nonsense_Mutation_p.W18* P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 18 activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AATCCACCGCCCAGATGTCAA 0.463000 5 46 0 0 0.000602214 0 0 NBR1 4077 broad.mit.edu 37 17 41331419 41331419 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:41331419C>G ENST00000422280.1 + 4 633 c.174C>G c.(172-174)atC>atG p.I58M NBR1_ENST00000589872.1_Missense_Mutation_p.I58M|NBR1_ENST00000389312.4_Intron|NBR1_ENST00000542611.1_Missense_Mutation_p.I37M|NBR1_ENST00000341165.6_Missense_Mutation_p.I58M|NBR1_ENST00000590996.1_Missense_Mutation_p.I58M NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 58 OPR. macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) AGGTATCCATCAACAGTCAAG 0.378000 4 47 0 0 0.000602214 0 0 TBL2 26608 broad.mit.edu 37 7 72988323 72988323 + Missense_Mutation SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:72988323T>C ENST00000305632.5 - 3 632 c.391A>G c.(391-393)Aga>Gga p.R131G TBL2_ENST00000452475.1_Missense_Mutation_p.R131G|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.R95G NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 131 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) ACGTTGGCTCTCATGCTGCGG 0.602000 8 104 0 0 0.000157383 0 0 DAGLB 221955 broad.mit.edu 37 7 6456255 6456255 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:6456255C>T ENST00000421761.2 - 8 960 c.662G>A c.(661-663)tGa>tAa p.*221* DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000436575.1_Intron|DAGLB_ENST00000297056.6_Intron Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 0 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) AACAAAGGCTCACCTCCACAG 0.567000 14 148 0 0 0.000422831 0 0 LAMB3 3914 broad.mit.edu 37 1 209799289 209799289 + Silent SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:209799289G>C ENST00000391911.1 - 13 2069 c.1680C>G c.(1678-1680)acC>acG p.T560T LAMB3_ENST00000367030.3_Silent_p.T560T|LAMB3_ENST00000356082.4_Silent_p.T560T NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 560 Laminin EGF-like 6. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AGCGGGGCCCGGTCAAGCCAG 0.647000 5 57 0 0 0.000602214 0 0 RASA1 5921 broad.mit.edu 37 5 86645051 86645051 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr5:86645051C>G ENST00000456692.2 + 8 707 c.592C>G c.(592-594)Ctt>Gtt p.L198V RASA1_ENST00000506290.1_Missense_Mutation_p.L209V|RASA1_ENST00000512763.1_Missense_Mutation_p.L208V|RASA1_ENST00000274376.6_Missense_Mutation_p.L375V NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 375 SH2 1. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CTGCAGTTTTCTTGTGAGGCC 0.333000 8 32 0 0 0.000157383 0 0 C20orf26 26074 broad.mit.edu 37 20 20279020 20279020 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr20:20279020G>A ENST00000245957.5 + 25 3488 c.3412G>A c.(3412-3414)Gat>Aat p.D1138N C20orf26_ENST00000377309.2_3'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 1138 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CCTGATCACAGATCTCTATAG 0.468000 8 57 0 0 0.000442599 0 0 SH3BP2 6452 broad.mit.edu 37 4 2831314 2831314 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:2831314C>T ENST00000356331.5 + 8 942 c.681C>T c.(679-681)acC>acT p.T227T SH3BP2_ENST00000503393.2_Silent_p.T284T|SH3BP2_ENST00000452765.2_Silent_p.T227T|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000442312.2_Silent_p.T255T|SH3BP2_ENST00000435136.2_Silent_p.T227T|SH3BP2_ENST00000511747.1_Silent_p.T227T NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 227 signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) ACTCCTTTACCTCCAAGGGCC 0.677000 Cherubism 13 101 0 0 0.00185496 0 0 DDX18 8886 broad.mit.edu 37 2 118575041 118575041 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:118575041C>T ENST00000263239.2 + 2 235 c.107C>T c.(106-108)tCg>tTg p.S36L DDX18_ENST00000474694.1_3'UTR NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 36 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CTGACCCTATCGGAAACTCAA 0.358000 7 87 0 0 0.000157383 0 0 ENPP2 5168 broad.mit.edu 37 8 120577110 120577110 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:120577110G>A ENST00000427067.2 - 24 2460 c.2280C>T c.(2278-2280)ttC>ttT p.F760F ENPP2_ENST00000075322.6_Silent_p.F739F|ENPP2_ENST00000259486.6_Silent_p.F791F|ENPP2_ENST00000522826.1_Silent_p.F764F|ENPP2_ENST00000522167.1_Silent_p.F374F Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 739 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AGTCATAGTCGAAGATTGGTC 0.378000 6 41 0 0 0.00116845 0 0 DNAJC4 3338 broad.mit.edu 37 11 64000221 64000221 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:64000221C>T ENST00000321685.3 + 5 876 c.411C>T c.(409-411)agC>agT p.S137S RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_Intron|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_Silent_p.S138S NM_005528.3 NP_005519.2 Q9NNZ3 DNJC4_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 4 137 protein folding|response to unfolded protein integral to membrane|membrane fraction heat shock protein binding|unfolded protein binding endometrium(1)|lung(1)|prostate(1) 3 AGTTTCACAGCGTGAGGCCAC 0.592000 6 57 0 0 0.000157383 0 0 THRA 7067 broad.mit.edu 37 17 38244572 38244572 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:38244572C>T ENST00000450525.2 + 8 1292 c.801C>T c.(799-801)taC>taT p.Y267Y THRA_ENST00000584985.1_Silent_p.Y267Y|THRA_ENST00000264637.4_Silent_p.Y267Y|THRA_ENST00000394121.4_Silent_p.Y267Y|THRA_ENST00000546243.1_Silent_p.Y267Y NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 267 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) CTGTCCGCTACGACCCTGAGA 0.637000 12 87 0 0 0.000219431 0 0 TRAT1 50852 broad.mit.edu 37 3 108565976 108565976 + Splice_Site SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:108565976G>A ENST00000295756.6 + 4 444 c.214G>A c.(214-216)Gaa>Aaa p.E72K TRAT1_ENST00000426646.1_Splice_Site_p.E35K|TRAT1_ENST00000493604.1_3'UTR NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 72 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 TATGATTTCAGGTAAGTTTTC 0.274000 5 30 0 0 0.000602214 0 0 CD79A 973 broad.mit.edu 37 19 42383361 42383361 + Splice_Site SNP T T G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr19:42383361T>G ENST00000221972.3 + 2 564 c.e2+2 CD79A_ENST00000444740.2_Intron NM_001783.3|NM_021601.3 NP_001774.1|NP_067612.1 P11912 CD79A_HUMAN CD79a molecule, immunoglobulin-associated alpha B cell differentiation|B cell proliferation|B cell receptor signaling pathway B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body transmembrane receptor activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 GCGTGCGCCGTGAGTGGCCCA 0.592000 """O, S""" DLBCL 10 15 0 0 0.00136819 0 0 SMURF1 57154 broad.mit.edu 37 7 98639810 98639810 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:98639810G>A ENST00000361125.1 - 13 1699 c.1380C>T c.(1378-1380)taC>taT p.Y460Y SMURF1_ENST00000361368.2_Silent_p.Y434Y|AC004893.11_ENST00000468960.2_RNA NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 460 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) GGAAGAGCCCGTAATAAGGAT 0.388000 11 120 0 0 0.000219431 0 0 DSCAML1 57453 broad.mit.edu 37 11 117667803 117667803 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:117667803G>C ENST00000321322.6 - 1 173 c.172C>G c.(172-174)Ctt>Gtt p.L58V DSCAML1_ENST00000527706.1_5'UTR NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 0 Ig-like C2-type 1. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ATGCCATAAAGAGGCCCTATT 0.711000 3 50 0 0 6.4e-05 0 0 TBX5 6910 broad.mit.edu 37 12 114793599 114793599 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:114793599G>A ENST00000310346.4 - 9 1961 c.1295C>T c.(1294-1296)tCg>tTg p.S432L TBX5_ENST00000405440.2_Missense_Mutation_p.S432L|TBX5_ENST00000349716.5_Missense_Mutation_p.S382L NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 432 MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CAGGGGCCCCGAGGTGAAGTG 0.647000 5 31 0 0 0.00116845 0 0 GFM1 85476 broad.mit.edu 37 3 158408110 158408110 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:158408110G>A ENST00000486715.1 + 16 2425 c.2068G>A c.(2068-2070)Gat>Aat p.D690N GFM1_ENST00000264263.5_Missense_Mutation_p.D709N NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 690 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) ACTGTATGCAGATGTAAGTAG 0.408000 9 80 0 0 0.000442599 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255261 15255261 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr10:15255261C>T ENST00000378116.4 - 8 2332 c.2326G>A c.(2326-2328)Gag>Aag p.E776K NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 776 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GCTCGAGGCTCTTTCTGCTGG 0.577000 13 64 0 0 0.000308642 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144859924 144859924 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:144859924G>A ENST00000369359.4 - 41 6606 c.6568C>T c.(6568-6570)Ctg>Ttg p.L2190L PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.L2139L|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Silent_p.L2054L|PDE4DIP_ENST00000369356.4_Silent_p.L2054L|PDE4DIP_ENST00000313382.9_Silent_p.L1948L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2054 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGCCCTCTCAGAGCTCGTACC 0.577000 T PDGFRB MPD 9 100 0 0 0.000274275 0 0 RELN 5649 broad.mit.edu 37 7 103155884 103155884 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:103155884C>T ENST00000424685.2 - 50 8026 c.7867G>A c.(7867-7869)Gtg>Atg p.V2623M RELN_ENST00000343529.5_Missense_Mutation_p.V2623M|RELN_ENST00000428762.1_Missense_Mutation_p.V2623M P78509 RELN_HUMAN reelin 2623 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGGATATTCACAAATCTATAG 0.458000 8 77 0 0 0.000442599 0 0 UVSSA 57654 broad.mit.edu 37 4 1374711 1374711 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:1374711G>A ENST00000389851.4 + 12 2243 c.1796G>A c.(1795-1797)cGg>cAg p.R599Q UVSSA_ENST00000511216.1_Missense_Mutation_p.R599Q|UVSSA_ENST00000512728.1_Missense_Mutation_p.R150Q|UVSSA_ENST00000507531.1_Missense_Mutation_p.R599Q|UVSSA_ENST00000511563.1_Missense_Mutation_p.R150Q NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 599 GACGAAGGACGGCCGCTCGAC 0.677000 13 54 0 0 0.00074312 0 0 KLHDC8B 200942 broad.mit.edu 37 3 49213182 49213182 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:49213182C>T ENST00000332780.2 + 6 1222 c.1013C>T c.(1012-1014)gCc>gTc p.A338V NM_173546.2 NP_775817.1 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 338 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGGGGTGTGGCCCAGGGCCCC 0.662000 10 58 0 0 0.000673444 0 0 NCAPD2 9918 broad.mit.edu 37 12 6638150 6638150 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:6638150C>T ENST00000315579.5 + 27 4316 c.3517C>T c.(3517-3519)Cgc>Tgc p.R1173C NCAPD2_ENST00000545962.1_Missense_Mutation_p.R1128C NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1173 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding p.R1173C(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 TATCATCAGCCGCCTGTCAGA 0.547000 15 81 0 0 0.000566183 0 0 DLC1 10395 broad.mit.edu 37 8 12947882 12947882 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:12947882G>A ENST00000276297.4 - 15 4362 c.3953C>T c.(3952-3954)tCa>tTa p.S1318L DLC1_ENST00000358919.2_Missense_Mutation_p.S881L|DLC1_ENST00000512044.2_Missense_Mutation_p.S915L|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.S807L NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1318 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GTAGTCAGCTGAGTCATCATT 0.512000 11 71 0 0 0.000673444 0 0 EMD 2010 broad.mit.edu 37 X 153609241 153609241 + Splice_Site SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:153609241G>A ENST00000369842.4 + 6 737 c.e6-1 EMD_ENST00000369835.3_Splice_Site|EMD_ENST00000492448.1_Splice_Site NM_000117.2 NP_000108.1 P50402 EMD_HUMAN emerin cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding lung(5) 5 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTTTGCCTCAGGGAACGCCCC 0.622000 13 86 0 0 0.000219431 0 0 SORCS2 57537 broad.mit.edu 37 4 7640086 7640086 + Missense_Mutation SNP G G T rs35727450 TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:7640086G>T ENST00000507866.2 + 4 789 c.680G>T c.(679-681)cGg>cTg p.R227L SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_Missense_Mutation_p.R55L NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 227 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 CTCAGTGACCGGGACCAGAGC 0.572000 6 142 0.00116845 0.00989376 0.00116845 1 0 FRMPD4 9758 broad.mit.edu 37 X 12736510 12736510 + Missense_Mutation SNP C C A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:12736510C>A ENST00000380682.1 + 16 4071 c.3565C>A c.(3565-3567)Cgc>Agc p.R1189S NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1189 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GAGTGTGGCCCGCCTTTGTGA 0.552000 24 131 6.36457e-07 5.62204e-06 0.000586117 1 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 5 79 0 0 0.000602214 0 0 NETO2 81831 broad.mit.edu 37 16 47162452 47162452 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:47162452C>T ENST00000562435.1 - 4 649 c.265G>A c.(265-267)Gat>Aat p.D89N NETO2_ENST00000303155.5_Missense_Mutation_p.D89N NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 89 CUB 1. integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TAATGTTCATCAAAGGTCAAC 0.358000 HNSCC(25;0.065) 14 125 0 0 0.000566183 0 0 SLC25A40 55972 broad.mit.edu 37 7 87473129 87473129 + Silent SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:87473129T>C ENST00000341119.5 - 9 1027 c.681A>G c.(679-681)aaA>aaG p.K227K NM_018843.3 NP_061331.2 Q8TBP6 S2540_HUMAN solute carrier family 25, member 40 227 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 17 Esophageal squamous(14;0.00202) ATAAACCAGATTTCTCACATA 0.294000 12 20 0 0 0.00185496 0 0 IGSF1 3547 broad.mit.edu 37 X 130411013 130411013 + Silent SNP G G T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:130411013G>T ENST00000370904.1 - 20 3391 c.2481C>A c.(2479-2481)atC>atA p.I827I IGSF1_ENST00000370903.3_Silent_p.I841I|IGSF1_ENST00000361420.3_Silent_p.I836I|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Silent_p.I827I Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 836 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CCACCGAAATGATTAGAAAGT 0.498000 52 446 8.28887e-21 7.5072e-20 0.000781405 1 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 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) 24 79 0 0 0.000878237 0 0 RELN 5649 broad.mit.edu 37 7 103214705 103214705 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:103214705C>T ENST00000424685.2 - 30 4504 c.4345G>A c.(4345-4347)Gag>Aag p.E1449K RELN_ENST00000343529.5_Missense_Mutation_p.E1449K|RELN_ENST00000428762.1_Missense_Mutation_p.E1449K P78509 RELN_HUMAN reelin 1449 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCGAACATCTCATTGTGATTG 0.458000 6 58 0 0 8.12818e-05 0 0 STX11 8676 broad.mit.edu 37 6 144508445 144508445 + Silent SNP C C G rs145774130 byFrequency TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:144508445C>G ENST00000367568.4 + 2 864 c.681C>G c.(679-681)ctC>ctG p.L227L NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 227 t-SNARE coiled-coil homology. cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) TACACGAGCTCTTCTTGCAGA 0.652000 Familial Hemophagocytic Lymphohistiocytosis 7 30 0 0 8.12818e-05 0 0 CPA1 1357 broad.mit.edu 37 7 130022031 130022031 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:130022031G>A ENST00000011292.3 + 4 614 c.464G>A c.(463-465)cGt>cAt p.R155H CPA1_ENST00000484324.1_Missense_Mutation_p.R67H NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 155 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) TATGAAGGGCGTCCCATTTAC 0.552000 9 100 0 0 0.000442599 0 0 GRID2 2895 broad.mit.edu 37 4 94006340 94006340 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:94006340C>G ENST00000282020.4 + 3 697 c.439C>G c.(439-441)Cgc>Ggc p.R147G GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 147 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCTCTCAGTTCGCCCACCTGT 0.478000 5 27 0 0 0.000602214 0 0 BANP 54971 broad.mit.edu 37 16 88039762 88039762 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:88039762C>G ENST00000393207.1 + 6 743 c.522C>G c.(520-522)caC>caG p.H174Q BANP_ENST00000538234.1_Missense_Mutation_p.H182Q|BANP_ENST00000355163.5_Missense_Mutation_p.H149Q|BANP_ENST00000393208.2_Missense_Mutation_p.H143Q|BANP_ENST00000286122.7_Missense_Mutation_p.H174Q|BANP_ENST00000479780.2_Missense_Mutation_p.H143Q|BANP_ENST00000355022.4_Missense_Mutation_p.H143Q NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 174 Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) ACAGCCACCACGAGGACGGGG 0.627000 14 123 0 0 0.00074312 0 0 ITGB2 3689 broad.mit.edu 37 21 46306710 46306710 + Missense_Mutation SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr21:46306710T>C ENST00000397850.2 - 16 2640 c.2188A>G c.(2188-2190)Agc>Ggc p.S730G ITGB2_ENST00000397852.1_Missense_Mutation_p.S730G|ITGB2_ENST00000355153.4_Missense_Mutation_p.S730G|ITGB2_ENST00000302347.5_Missense_Mutation_p.S730G|ITGB2_ENST00000397854.3_Missense_Mutation_p.S673G|ITGB2_ENST00000397857.1_Missense_Mutation_p.S730G P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 730 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) CGGAGGTCGCTCAGGTGGATC 0.627000 3 63 0 0 6.4e-05 0 0 HEPHL1 341208 broad.mit.edu 37 11 93796804 93796804 + Silent SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:93796804G>C ENST00000315765.9 + 3 554 c.546G>C c.(544-546)ctG>ctC p.L182L NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 182 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CCAACTGCCTGACCTGGGTGT 0.532000 5 47 0 0 0.000602214 0 0 OR4A47 403253 broad.mit.edu 37 11 48511224 48511224 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:48511224A>G ENST00000446524.1 + 1 956 c.880A>G c.(880-882)Agt>Ggt p.S294G NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGAGATGACAAGTGCTATGAA 0.418000 3 56 0 0 6.4e-05 0 0 KLHL1 57626 broad.mit.edu 37 13 70681399 70681399 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr13:70681399G>A ENST00000377844.4 - 1 1192 c.433C>T c.(433-435)Ctg>Ttg p.L145L KLHL1_ENST00000545028.1_Silent_p.L13L|ATXN8OS_ENST00000414504.2_RNA NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 145 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AGCTCTTGCAGAACCAGCCCT 0.557000 23 122 0 0 0.000586117 0 0 CPEB3 22849 broad.mit.edu 37 10 93952323 93952323 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr10:93952323G>C ENST00000412050.4 - 3 1164 c.1076C>G c.(1075-1077)aCt>aGt p.T359S CPEB3_ENST00000265997.4_Missense_Mutation_p.T359S NM_001178137.1 NP_001171608.1 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding protein 3 359 nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) TTCATGATCAGTCCTTATCAT 0.403000 6 19 0 0 0.00116845 0 0 MX1 4599 broad.mit.edu 37 21 42823170 42823170 + Splice_Site SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr21:42823170G>A ENST00000398600.2 + 17 2534 c.1509G>A c.(1507-1509)aaG>aaA p.K503K MX1_ENST00000288383.6_Splice_Site_p.K480K|MX1_ENST00000398598.3_Splice_Site_p.K503K|MX1_ENST00000455164.2_Splice_Site_p.K503K NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 503 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GAACCGCCAAGGTAAAACCAA 0.308000 119 244 0 0 0.000781405 0 0 RELN 5649 broad.mit.edu 37 7 103275933 103275933 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:103275933C>G ENST00000424685.2 - 19 2563 c.2404G>C c.(2404-2406)Gat>Cat p.D802H RELN_ENST00000343529.5_Missense_Mutation_p.D802H|RELN_ENST00000428762.1_Missense_Mutation_p.D802H P78509 RELN_HUMAN reelin 802 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATCCCATTATCATAAGAATAA 0.438000 4 69 0 0 0.00024832 0 0 SLC33A1 9197 broad.mit.edu 37 3 155571496 155571496 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:155571496G>A ENST00000392845.3 - 1 671 c.291C>T c.(289-291)ctC>ctT p.L97L SLC33A1_ENST00000359479.3_Silent_p.L97L O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTTGCAAAATGAGTGGGATGC 0.483000 8 74 0 0 0.000157383 0 0 PEG3 5178 broad.mit.edu 37 19 57328456 57328456 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr19:57328456A>G ENST00000326441.9 - 10 1717 c.1354T>C c.(1354-1356)Tat>Cat p.Y452H PEG3_ENST00000423103.2_Missense_Mutation_p.Y452H|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Y326H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Y328H NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 452 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCACATACATATGGCATTGCC 0.488000 6 87 0 0 0.000157383 0 0 NFATC4 4776 broad.mit.edu 37 14 24836320 24836320 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr14:24836320C>T ENST00000413692.2 + 1 204 c.60C>T c.(58-60)gtC>gtT p.V20V NFATC4_ENST00000554591.1_Silent_p.V20V|NFATC4_ENST00000440487.2_3'UTR NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 0 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CCCACCGAGTCACGAATCTCC 0.562000 21 149 0 0 0.00047179 0 0 HERC2P9 440248 broad.mit.edu 37 15 28900651 28900651 + RNA SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr15:28900651G>A ENST00000528584.1 + 0 162 NR_036443.1 AGTCCATGCTGAGGTGGCGCA 0.642000 6 40 0 0 0.00116845 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73073578 73073578 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:73073578C>T ENST00000263674.3 + 14 5145 c.4795C>T c.(4795-4797)Ctc>Ttc p.L1599F NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1599 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 AGCCGCGACGCTCGCGGAGCC 0.731000 5 32 0 0 8.12818e-05 0 0 ATP9A 10079 broad.mit.edu 37 20 50224073 50224073 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr20:50224073G>A ENST00000338821.5 - 26 3060 c.2796C>T c.(2794-2796)atC>atT p.I932I ATP9A_ENST00000311637.5_Silent_p.I796I|ATP9A_ENST00000402822.1_Silent_p.I811I NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 932 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TACCTTGATAGATGCTAATCA 0.488000 12 39 0 0 0.00185496 0 0 SESN3 143686 broad.mit.edu 37 11 94911061 94911061 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:94911061C>T ENST00000536441.1 - 8 1405 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.E218K NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 357 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) CCATGATTTTCCCAGGTATAG 0.313000 5 15 0 0 0.000602214 0 0 MYEF2 50804 broad.mit.edu 37 15 48443319 48443319 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr15:48443319C>T ENST00000324324.7 - 14 1635 c.1356G>A c.(1354-1356)atG>atA p.M452I MYEF2_ENST00000267836.6_Intron NM_016132.3 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 452 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) CTACTGGACCCATGTTAGAAG 0.323000 5 26 0 0 0.000602214 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70065826 70065826 + RNA SNP T T C rs3169319 by1000genomes TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:70065826T>C ENST00000531894.1 - 0 796 NR_003610.1 p.M209V(4) GATCCAAACATAGTGTTACAG 0.453000 6 126 0 0 0.00116845 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112998771 112998771 + Silent SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:112998771A>G ENST00000271277.6 + 6 882 c.657A>G c.(655-657)gaA>gaG p.E219E NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 219 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AACTGGAAGAAGAGTTGGCAG 0.512000 9 59 0 0 0.000442599 0 0 TEX2 55852 broad.mit.edu 37 17 62254697 62254697 + Silent SNP G G T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:62254697G>T ENST00000258991.3 - 6 2664 c.2580C>A c.(2578-2580)ctC>ctA p.L860L TEX2_ENST00000584379.1_Silent_p.L853L|TEX2_ENST00000583097.1_Silent_p.L853L Q8IWB9 TEX2_HUMAN testis expressed 2 853 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TTATTTTGCTGAGTTTCATTT 0.378000 29 168 2.12542e-12 1.91287e-11 0.00106085 1 0 DIS3L2 129563 broad.mit.edu 37 2 233198629 233198629 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:233198629C>T ENST00000325385.7 + 17 2366 c.2090C>T c.(2089-2091)aCa>aTa p.T697I DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.T697I NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 697 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CCCCTGTACACACACTTCACC 0.662000 18 92 0 0 0.00074312 0 0 FAM58A 92002 broad.mit.edu 37 X 152858023 152858023 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:152858023G>C ENST00000406277.2 - 6 694 c.592C>G c.(592-594)Ctg>Gtg p.L198V FAM58A_ENST00000370175.4_5'UTR NM_001130997.1|NM_152274.3 NP_001124469.1|NP_689487.2 Q8N1B3 FA58A_HUMAN family with sequence similarity 58, member A 200 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TAGACCTGCAGGGCCAGGTAG 0.692000 7 31 0 0 8.12818e-05 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113675335 113675335 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:113675335G>A ENST00000330212.3 + 4 1321 c.1022G>A c.(1021-1023)gGa>gAa p.G341E ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G335E NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 341 integral to membrane acyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 TATTGTCCTGGAGTTTATGCA 0.463000 6 72 0 0 0.00116845 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135721343 135721343 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:135721343G>A ENST00000264977.3 + 2 1620 c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 335 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCCTAAATATGAAGATGTTGT 0.413000 7 65 0 0 0.000442599 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513419 50513419 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:50513419C>T ENST00000419119.1 - 2 3120 c.1567G>A c.(1567-1569)Gaa>Aaa p.E523K FIGNL1_ENST00000433017.1_Missense_Mutation_p.E523K|FIGNL1_ENST00000395556.2_Missense_Mutation_p.E523K|FIGNL1_ENST00000356889.4_Missense_Mutation_p.E523K Q6PIW4 FIGL1_HUMAN fidgetin-like 1 523 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity p.E523*(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) ACTAAAAATTCTGTTTTTATC 0.413000 29 111 0 0 0.000878237 0 0 GALR1 2587 broad.mit.edu 37 18 74963033 74963033 + Missense_Mutation SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr18:74963033T>C ENST00000299727.3 + 1 529 c.529T>C c.(529-531)Ttc>Ctc p.F177L NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 177 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) CCAGGGCCTCTTCCACCCGCG 0.677000 18 54 0 0 0.00121646 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281341 49281341 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr13:49281341A>G ENST00000282018.3 + 1 391 c.388A>G c.(388-390)Acc>Gcc p.T130A NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 130 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TTATTTCCTGACCGTGCTGAG 0.468000 3 79 0 0 6.4e-05 0 0 S1PR1 1901 broad.mit.edu 37 1 101705363 101705363 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:101705363C>G ENST00000305352.6 + 2 1198 c.823C>G c.(823-825)Ctg>Gtg p.L275V NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 275 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 GCTCTTCATCCTGCTCCTGCT 0.582000 38 244 0 0 0.00170553 0 0 ERI3 79033 broad.mit.edu 37 1 44804820 44804820 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:44804820C>T ENST00000372257.2 - 3 567 c.386G>A c.(385-387)gGc>gAc p.G129D ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron NM_024066.1 NP_076971.1 O43414 ERI3_HUMAN ERI1 exoribonuclease family member 3 129 intracellular exonuclease activity|metal ion binding|nucleic acid binding endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CATGGATGCGCCAAAGCCGTG 0.542000 15 187 0 0 0.000308642 0 0 DFFA 1676 broad.mit.edu 37 1 10527261 10527261 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:10527261C>T ENST00000377038.3 - 3 494 c.427G>A c.(427-429)Gag>Aag p.E143K DFFA_ENST00000377036.2_Missense_Mutation_p.E143K NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide 143 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding p.E143Q(2) large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) AGGTCCTCCTCTGATAGGAGG 0.532000 19 114 0 0 0.00152264 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444248 15444248 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:15444248C>T ENST00000295297.4 + 3 975 c.716C>T c.(715-717)tCg>tTg p.S239L C1QTNF7_ENST00000444304.2_Missense_Mutation_p.S232L|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.S232L NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 232 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 GATGTGGCTTCGGGGTCCACA 0.502000 60 96 0 0 0.000781405 0 0 GLT1D1 144423 broad.mit.edu 37 12 129432001 129432001 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:129432001G>A ENST00000442111.2 + 10 866 c.778G>A c.(778-780)Gag>Aag p.E260K GLT1D1_ENST00000281703.6_Missense_Mutation_p.E180K|GLT1D1_ENST00000537468.1_Missense_Mutation_p.E265K|GLT1D1_ENST00000542193.1_Missense_Mutation_p.E177K Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 260 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) TGCAATTTTGGAGGTAATTAT 0.458000 10 65 0 0 0.00185496 0 0 TOR2A 27433 broad.mit.edu 37 9 130496823 130496823 + Nonsense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr9:130496823G>A ENST00000373281.5 - 2 195 c.172C>T c.(172-174)Cag>Tag p.Q58* TOR2A_ENST00000373284.5_Nonsense_Mutation_p.Q58*|TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000336067.6_Nonsense_Mutation_p.Q58*|TOR2A_ENST00000472723.1_5'UTR NM_130459.3 NP_569726.2 Q5JU69 TOR2A_HUMAN torsin family 2, member A 58 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity NS(1)|endometrium(2) 3 GCCAGGTGCTGAGCCAGGTCA 0.632000 OREG0019509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 26 0 0 0.000308642 0 0 MYH13 8735 broad.mit.edu 37 17 10248880 10248880 + Silent SNP C C A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:10248880C>A ENST00000418404.3 - 13 1480 c.1317G>T c.(1315-1317)ctG>ctT p.L439L MYH13_ENST00000252172.4_Silent_p.L439L Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 439 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGACCATCCACAGGAACATCT 0.517000 6 137 1.12685e-05 9.83246e-05 0.000274275 1 0 FLG 2312 broad.mit.edu 37 1 152284039 152284039 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:152284039C>T ENST00000368799.1 - 3 3358 c.3323G>A c.(3322-3324)gGg>gAg p.G1108E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1108 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCTTCCCCCTGACCAGTC 0.582000 Ichthyosis 57 258 0 0 0.000781405 0 0 GON4L 54856 broad.mit.edu 37 1 155721969 155721969 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:155721969C>T ENST00000437809.1 - 30 6374 c.6252G>A c.(6250-6252)gtG>gtA p.V2084V GON4L_ENST00000368331.1_Silent_p.V2085V|GON4L_ENST00000271883.5_Silent_p.V2084V NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 2085 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CTCTTGTCTTCACCCGAGCTC 0.527000 16 141 0 0 0.000308642 0 0 TEP1 7011 broad.mit.edu 37 14 20876196 20876196 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr14:20876196G>C ENST00000262715.5 - 2 443 c.403C>G c.(403-405)Cac>Gac p.H135D TEP1_ENST00000556935.1_Missense_Mutation_p.H135D NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 135 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGCGTCATGTGAGATATCTGT 0.527000 15 168 0 0 0.000219431 0 0 ZNF451 26036 broad.mit.edu 37 6 57013396 57013396 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:57013396C>T ENST00000370706.4 + 10 2757 c.2513C>T c.(2512-2514)tCa>tTa p.S838L RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S838L|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S838L|RP11-203B9.4_ENST00000586053.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 838 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GCTAGTGCCTCACATACAGAG 0.373000 8 13 0 0 0.000274275 0 0 SLC37A3 84255 broad.mit.edu 37 7 140058547 140058547 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:140058547G>C ENST00000326232.9 - 6 617 c.414C>G c.(412-414)ttC>ttG p.F138L SLC37A3_ENST00000429996.2_Intron|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000447932.2_Missense_Mutation_p.F138L|SLC37A3_ENST00000340308.3_Missense_Mutation_p.F138L NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 138 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) ATTTGTTGTAGAAACGCAGCC 0.507000 23 228 0 0 0.000586117 0 0 G2E3 55632 broad.mit.edu 37 14 31077178 31077178 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr14:31077178C>G ENST00000206595.6 + 12 1557 c.1403C>G c.(1402-1404)tCt>tGt p.S468C G2E3_ENST00000553504.1_Missense_Mutation_p.S498C|G2E3_ENST00000438909.2_Missense_Mutation_p.S422C NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 468 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GGTTTCTTTTCTAAAACCTTG 0.378000 8 39 0 0 0.000157383 0 0 UNC13C 440279 broad.mit.edu 37 15 54586192 54586192 + Silent SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr15:54586192T>C ENST00000545554.1 + 10 3918 c.3918T>C c.(3916-3918)gaT>gaC p.D1306D UNC13C_ENST00000537900.1_Silent_p.D1304D|UNC13C_ENST00000260323.11_Silent_p.D1306D Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1306 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGGAGTCAGATGATTTTCTGG 0.368000 19 80 0 0 0.00152264 0 0 CRTC2 200186 broad.mit.edu 37 1 153921053 153921053 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:153921053C>G ENST00000368633.1 - 13 1869 c.1742G>C c.(1741-1743)gGg>gCg p.G581A CRTC2_ENST00000368630.3_Missense_Mutation_p.G261A NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 581 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AAATCCAGGCCCTTCAGAAAA 0.567000 8 109 0 0 0.000274275 0 0 ASCC3 10973 broad.mit.edu 37 6 101049784 101049784 + Missense_Mutation SNP T T G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:101049784T>G ENST00000369162.2 - 34 5549 c.5205A>C c.(5203-5205)ttA>ttC p.L1735F NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1735 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TCTCTGCATTTAAGTGGTCAG 0.368000 3 53 0 0 6.4e-05 0 0 TACC3 10460 broad.mit.edu 37 4 1730206 1730206 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:1730206G>C ENST00000313288.4 + 4 1183 c.1077G>C c.(1075-1077)gaG>gaC p.E359D NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 359 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) GACTGGGAGAGAGGTCCGGCC 0.597000 5 73 0 0 0.00116845 0 0 THTPA 79178 broad.mit.edu 37 14 24028017 24028017 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr14:24028017G>A ENST00000288014.6 + 2 1397 c.661G>A c.(661-663)Gag>Aag p.E221K RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.E131K|THTPA_ENST00000554789.1_3'UTR|THTPA_ENST00000556015.1_3'UTR|THTPA_ENST00000404535.3_Missense_Mutation_p.E221K|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA Q9BU02 THTPA_HUMAN thiamine triphosphatase 221 dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process cytosol|nucleolus|soluble fraction thiamin-triphosphatase activity large_intestine(1)|prostate(2) 3 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00643) Thiamine(DB00152) GAGGCCACAGGAGACTGAAGA 0.572000 OREG0022604 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 46 0 0 0.000602214 0 0 KDM6A 7403 broad.mit.edu 37 X 44949018 44949018 + Nonsense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chrX:44949018G>A ENST00000377967.4 + 25 3620 c.3579G>A c.(3577-3579)tgG>tgA p.W1193* KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W1114*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W1200*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W1148* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1193 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TGGGTTCTTGGTGGCCCAATC 0.353000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 6 16 0 0 0.000157383 0 0 FAM53A 152877 broad.mit.edu 37 4 1643302 1643302 + Nonsense_Mutation SNP G G A rs151156399 TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:1643302G>A ENST00000489363.1 - 6 1666 c.1069C>T c.(1069-1071)Caa>Taa p.Q357* FAM53A_ENST00000461064.1_Silent_p.L305L|FAM53A_ENST00000472884.2_Silent_p.L305L|FAM53A_ENST00000308132.6_Silent_p.L305L Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 0 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) CTTCGTAATTGAGGGAGCAAA 0.502000 43 319 0 0 0.000781405 0 0 ALDOA 226 broad.mit.edu 37 16 30080666 30080666 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:30080666G>A ENST00000566897.1 + 9 1732 c.580G>A c.(580-582)Gat>Aat p.D194N ALDOA_ENST00000395240.3_Missense_Mutation_p.D198N|ALDOA_ENST00000338110.5_Missense_Mutation_p.D194N|ALDOA_ENST00000563060.2_Missense_Mutation_p.D194N|ALDOA_ENST00000412304.2_Missense_Mutation_p.D194N|ALDOA_ENST00000569545.1_Missense_Mutation_p.D194N|ALDOA_ENST00000564595.2_Missense_Mutation_p.D248N|ALDOA_ENST00000564546.1_Missense_Mutation_p.D194N|ALDOA_ENST00000569798.1_Missense_Mutation_p.D194N|ALDOA_ENST00000395248.1_Missense_Mutation_p.D248N P04075 ALDOA_HUMAN aldolase A, fructose-bisphosphate 194 actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 GATCCTCCCTGATGGGGACCA 0.602000 OREG0023729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 88 0 0 0.000219431 0 0 PRKCZ 5590 broad.mit.edu 37 1 2077537 2077537 + Missense_Mutation SNP G G C rs143367104 TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:2077537G>C ENST00000400921.2 + 4 758 c.75G>C c.(73-75)gaG>gaC p.E25D PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.E25D NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 208 OPR. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CTTCCGAGGAGACAGATGGAA 0.582000 3 51 0 0 6.4e-05 0 0 ADPRM 56985 broad.mit.edu 37 17 10614321 10614321 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:10614321G>A ENST00000379774.4 + 4 980 c.889G>A c.(889-891)Gaa>Aaa p.E297K ADPRM_ENST00000609540.1_Silent_p.*295* NM_020233.4 NP_064618.3 ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent CGTCAACCTAGAAGGAGTTAT 0.463000 8 51 0 0 0.000274275 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227316871 227316871 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:227316871G>A ENST00000366769.3 - 11 2743 c.1452C>T c.(1450-1452)agC>agT p.S484S CDC42BPA_ENST00000535525.1_Silent_p.S484S|CDC42BPA_ENST00000334218.5_Silent_p.S484S|CDC42BPA_ENST00000366764.2_Silent_p.S484S|CDC42BPA_ENST00000366765.3_Silent_p.S484S|CDC42BPA_ENST00000366767.3_Silent_p.S484S|CDC42BPA_ENST00000366766.2_Silent_p.S484S NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 484 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) CTAAATCTTTGCTTGCTGTTA 0.289000 7 62 0 0 0.000157383 0 0 PDIA3 2923 broad.mit.edu 37 15 44061801 44061801 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr15:44061801A>G ENST00000300289.5 + 10 1371 c.1223A>G c.(1222-1224)cAc>cGc p.H408R PDIA3_ENST00000538521.1_Missense_Mutation_p.H388R NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 408 Thioredoxin 2. Contributes to redox potential value (By similarity). cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) TGGTGTGGTCACTGTAAGAAC 0.393000 11 73 0 0 0.00136819 0 0 MOGS 7841 broad.mit.edu 37 2 74688895 74688895 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:74688895C>T ENST00000233616.4 - 4 2183 c.2021G>A c.(2020-2022)cGg>cAg p.R674Q MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.R568Q NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 674 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 ACCCACCACCCGAACGAGCCC 0.582000 9 99 0 0 0.000442599 0 0 KRBA1 84626 broad.mit.edu 37 7 149422508 149422508 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:149422508C>T ENST00000255992.10 + 10 1628 c.1229C>T c.(1228-1230)tCc>tTc p.S410F KRBA1_ENST00000319551.8_Missense_Mutation_p.S410F|KRBA1_ENST00000485033.2_Missense_Mutation_p.S410F|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 410 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTTCTTGTTCCCAGAACCCC 0.602000 6 26 0 0 8.12818e-05 0 0 PCK1 5105 broad.mit.edu 37 20 56139562 56139562 + Missense_Mutation SNP C C T rs149472972 TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr20:56139562C>T ENST00000319441.4 + 8 1375 c.1211C>T c.(1210-1212)tCg>tTg p.S404L PCK1_ENST00000543666.1_Missense_Mutation_p.S87L|PCK1_ENST00000535860.1_Silent_p.L301L NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 404 Substrate binding. gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CACCCCAACTCGAGGTTCTGC 0.587000 18 151 0 0 0.000958276 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100452896 100452896 + Missense_Mutation SNP T T A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:100452896T>A ENST00000279907.7 - 14 2371 c.2159A>T c.(2158-2160)gAc>gTc p.D720V UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D370V NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 720 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 AGGGAATGAGTCTACAAAACT 0.398000 7 65 0 0 8.12818e-05 0 0 ACTL6A 86 broad.mit.edu 37 3 179301231 179301231 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:179301231C>T ENST00000429709.2 + 12 1330 c.1117C>T c.(1117-1119)Cct>Tct p.P373S RP11-15L13.4_ENST00000608818.1_RNA|ACTL6A_ENST00000392662.1_Missense_Mutation_p.P331S|ACTL6A_ENST00000450518.2_Missense_Mutation_p.P331S NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 373 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) TCAGAAAACTCCTCCAGTAAG 0.368000 9 82 0 0 0.000442599 0 0 CRTC2 200186 broad.mit.edu 37 1 153921067 153921067 + Silent SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:153921067A>G ENST00000368633.1 - 13 1855 c.1728T>C c.(1726-1728)ccT>ccC p.P576P CRTC2_ENST00000368630.3_Silent_p.P256P NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 576 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGAAAAGCCAGGGGGATCCA 0.542000 10 108 0 0 0.000673444 0 0 FHOD1 29109 broad.mit.edu 37 16 67263612 67263612 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:67263612G>A ENST00000258201.4 - 22 3669 c.3422C>T c.(3421-3423)aCg>aTg p.T1141M NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1141 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) ACTCTTCAACGTCCTTCTCAC 0.582000 18 108 0 0 0.000958276 0 0 XKR6 286046 broad.mit.edu 37 8 10755762 10755762 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:10755762C>T ENST00000416569.2 - 3 1652 c.1626G>A c.(1624-1626)acG>acA p.T542T XKR6_ENST00000304437.2_Silent_p.T263T NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 542 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CTCTGGTGGGCGTAACCTGGG 0.637000 8 38 0 0 0.000274275 0 0 ATP8B5P 158381 broad.mit.edu 37 9 35450108 35450108 + RNA SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr9:35450108T>C ENST00000430846.1 + 0 2958 GTATCAGACATGGCACAGCAG 0.418000 32 27 0 0 0.000692331 0 0 TMC7 79905 broad.mit.edu 37 16 19058553 19058553 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:19058553C>T ENST00000421369.3 + 12 1950 c.1392C>T c.(1390-1392)atC>atT p.I464I TMC7_ENST00000304381.5_Silent_p.I574I|TMC7_ENST00000569532.1_Silent_p.I574I NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 574 integral to membrane p.I574I(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 AATTCATTATCATCTTCTATG 0.502000 39 314 0 0 0.00170553 0 0 SPATA17 128153 broad.mit.edu 37 1 217915425 217915425 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:217915425C>T ENST00000366933.4 + 6 559 c.504C>T c.(502-504)ctC>ctT p.L168L NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 168 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TGCATTACCTCCTCAGCACAA 0.473000 7 85 0 0 8.12818e-05 0 0 TRANK1 9881 broad.mit.edu 37 3 36872485 36872485 + Silent SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:36872485T>C ENST00000429976.2 - 21 8704 c.8457A>G c.(8455-8457)gtA>gtG p.V2819V TRANK1_ENST00000428977.2_Silent_p.V2269V|TRANK1_ENST00000301807.6_Silent_p.V2269V NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2819 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TGTGGATCCATACACTTTGCT 0.532000 43 143 0 0 0.000781405 0 0 UBXN6 80700 broad.mit.edu 37 19 4447594 4447594 + Nonsense_Mutation SNP C C A rs141391502 by1000genomes TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr19:4447594C>A ENST00000301281.6 - 6 692 c.568G>T c.(568-570)Gag>Tag p.E190* UBXN6_ENST00000394765.3_Nonsense_Mutation_p.E137*|CTB-50L17.7_ENST00000588798.1_RNA NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 190 PUB. microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 TTCTCCTCCTCGGGGTGCAGG 0.672000 8 117 3.86212e-05 0.00033094 0.000673444 1 0 NCOR1 9611 broad.mit.edu 37 17 15989705 15989705 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:15989705C>G ENST00000268712.3 - 23 3325 c.3068G>C c.(3067-3069)cGg>cCg p.R1023P NCOR1_ENST00000395851.1_Missense_Mutation_p.R1039P NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1023 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGTCGGAAGCCGAACGCCTTC 0.458000 7 37 0 0 8.12818e-05 0 0 HAUS3 79441 broad.mit.edu 37 4 2242103 2242103 + Missense_Mutation SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:2242103G>A ENST00000243706.4 - 2 800 c.571C>T c.(571-573)Cca>Tca p.P191S HAUS3_ENST00000506763.1_Missense_Mutation_p.P191S|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.P191S|POLN_ENST00000515357.1_Intron NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 191 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 aataccagtggatttgtccct 0.348000 5 27 0 0 0.000602214 0 0 RNF213 57674 broad.mit.edu 37 17 78319411 78319411 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:78319411A>G ENST00000582970.1 + 29 7419 c.7276A>G c.(7276-7278)Aaa>Gaa p.K2426E RNF213_ENST00000508628.2_Missense_Mutation_p.K2475E|RNF213_ENST00000336301.6_Missense_Mutation_p.K499E NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGGCTGTGGGAAAACCAGGCT 0.502000 22 155 0 0 0.000586117 0 0 ZFP36L1 677 broad.mit.edu 37 14 69262546 69262546 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr14:69262546G>C ENST00000408913.2 - 1 644 c.466C>G c.(466-468)Ctc>Gtc p.L156V Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 0 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGGGAGCCGAGAGGAGGGAGC 0.602000 12 107 0 0 0.000978159 0 0 BRPF3 27154 broad.mit.edu 37 6 36168333 36168333 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:36168333G>A ENST00000357641.6 + 2 487 c.234G>A c.(232-234)aaG>aaA p.K78K BRPF3_ENST00000443324.2_Silent_p.K78K|BRPF3_ENST00000534400.1_Silent_p.K78K|BRPF3_ENST00000543502.1_Silent_p.K78K|BRPF3_ENST00000534694.1_Silent_p.K78K|BRPF3_ENST00000339717.7_Silent_p.K78K NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 78 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 ATAGTAACAAGGAAAACAGTG 0.463000 11 75 0 0 0.000673444 0 0 SH3TC2 79628 broad.mit.edu 37 5 148406386 148406386 + Missense_Mutation SNP T T C rs17722209 by1000genomes TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr5:148406386T>C ENST00000394358.2 - 12 3016 c.2564A>G c.(2563-2565)aAa>aGa p.K855R SH3TC2_ENST00000512049.1_Intron|SH3TC2_ENST00000515425.1_Intron|SH3TC2_ENST00000538184.1_Intron Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 0 binding p.K855R(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAACACTTTTCTCTATAGC 0.443000 4 129 0 0 0.00024832 0 0 EPB41 2035 broad.mit.edu 37 1 29379626 29379626 + Silent SNP C C A rs145888614 byFrequency TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:29379626C>A ENST00000343067.4 + 12 1774 c.1647C>A c.(1645-1647)gtC>gtA p.V549V EPB41_ENST00000356093.2_Silent_p.V549V|EPB41_ENST00000349460.4_Silent_p.V340V|EPB41_ENST00000347529.3_Silent_p.V514V|EPB41_ENST00000373800.3_Silent_p.V340V|EPB41_ENST00000398863.2_Silent_p.V549V|EPB41_ENST00000373797.1_Silent_p.V549V|EPB41_ENST00000373798.1_Silent_p.V549V NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 549 Hydrophilic. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton p.V340V(1)|p.V549V(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) CAGCAGCTGTCGATTCGGCAG 0.483000 10 32 5.50884e-06 4.83629e-05 0.00136819 1 0 PON2 5445 broad.mit.edu 37 7 95041045 95041045 + Silent SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr7:95041045A>G ENST00000536183.1 - 5 660 c.477T>C c.(475-477)aaT>aaC p.N159N PON2_ENST00000222572.3_Silent_p.N138N|PON2_ENST00000433091.2_Silent_p.N126N NM_000305.2 NP_000296.2 Q15165 PON2_HUMAN paraoxonase 2 138 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) TTTCCACTGTATTCTTGAATT 0.348000 6 32 0 0 0.00116845 0 0 RASL11A 387496 broad.mit.edu 37 13 27845086 27845086 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr13:27845086G>C ENST00000241463.4 + 1 623 c.5G>C c.(4-6)cGg>cCg p.R2P NM_206827.1 NP_996563.1 Q6T310 RSLBA_HUMAN RAS-like, family 11, member A 2 positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent membrane|nucleolus GTP binding|GTPase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 10 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) CGCTCCATGCGGCCGCTCAGC 0.706000 2 1 0 0 6.4e-05 0 0 COL23A1 91522 broad.mit.edu 37 5 177673290 177673290 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr5:177673290C>T ENST00000390654.3 - 24 1735 c.1378G>A c.(1378-1380)Ggc>Agc p.G460S NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 460 Collagen-like 4.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CCAATAAGGCCCGGTGGGCCA 0.557000 3 6 0 0 0.00024832 0 0 IDH3B 3420 broad.mit.edu 37 20 2639120 2639120 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr20:2639120C>T ENST00000380851.5 - 12 1150 c.1120G>A c.(1120-1122)Gag>Aag p.E374K IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380843.4_3'UTR NM_001258384.1|NM_174855.2 NP_001245313.1|NP_777280.1 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3 (NAD+) beta 374 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1) 14 NADH(DB00157) ATGACAGCCTCAGTGAAGTCA 0.478000 12 71 0 0 0.00185496 0 0 COL6A6 131873 broad.mit.edu 37 3 130311550 130311550 + Missense_Mutation SNP G G T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:130311550G>T ENST00000358511.6 + 14 4386 c.4355G>T c.(4354-4356)gGa>gTa p.G1452V COL6A6_ENST00000453409.2_Missense_Mutation_p.G1452V NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1452 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGAAACAGAGGACTAAATGGA 0.313000 28 124 4.34311e-12 3.88437e-11 0.00058488 1 0 PTK6 5753 broad.mit.edu 37 20 62168507 62168507 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr20:62168507C>T ENST00000217185.2 - 1 188 c.161G>A c.(160-162)gGt>gAt p.G54D PTK6_ENST00000542869.1_De_novo_Start_InFrame NM_005975.3 NP_005966.1 Q13882 PTK6_HUMAN protein tyrosine kinase 6 54 SH3. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) CACGGCCCCACCCGCCTCGTC 0.692000 14 18 0 0 0.000308642 0 0 MBTPS1 8720 broad.mit.edu 37 16 84096944 84096944 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr16:84096944G>C ENST00000343411.3 - 19 3033 c.2538C>G c.(2536-2538)gaC>gaG p.D846E NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 846 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AGCAATTGGAGTCCCCATACA 0.478000 OREG0023981 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 140 0 0 0.00116845 0 0 COL5A2 1290 broad.mit.edu 37 2 189904075 189904075 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:189904075C>T ENST00000374866.3 - 51 4122 c.3848G>A c.(3847-3849)cGc>cAc p.R1283H NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1283 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ATCGGGGCTGCGCATGGTTTC 0.522000 7 53 0 0 0.000157383 0 0 OR8J1 219477 broad.mit.edu 37 11 56128191 56128191 + Missense_Mutation SNP A A G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:56128191A>G ENST00000303039.3 + 1 501 c.469A>G c.(469-471)Att>Gtt p.I157V NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TTCTACAGCTATTGTGGTTTC 0.423000 4 36 0 0 0.00024832 0 0 FBXW7 55294 broad.mit.edu 37 4 153244124 153244124 + Nonsense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:153244124G>C ENST00000281708.4 - 12 3262 c.2033C>G c.(2032-2034)tCa>tGa p.S678* FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S560*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S678*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S502*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S678*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S598* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 678 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.S678*(2)|p.S560*(1)|p.S598*(1)|p.S439*(1)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CTTTGTGTTTGAGGCTCTGAT 0.493000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 47 52 0 0 0.000781405 0 0 STX3 6809 broad.mit.edu 37 11 59554605 59554605 + Missense_Mutation SNP G G C rs140824363 TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:59554605G>C ENST00000535361.1 + 3 757 c.210G>C c.(208-210)gaG>gaC p.E70D STX3_ENST00000300150.7_Missense_Mutation_p.E39D|STX3_ENST00000337979.4_Missense_Mutation_p.E70D|STX3_ENST00000529177.1_Missense_Mutation_p.E70D|STX3_ENST00000437946.2_Intron Q13277 STX3_HUMAN syntaxin 3 70 cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1) 13 CGATTCCAGAGCCAAGTGAGT 0.448000 6 43 0 0 8.12818e-05 0 0 SYBU 55638 broad.mit.edu 37 8 110592172 110592172 + Nonsense_Mutation SNP G G T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:110592172G>T ENST00000399066.3 - 4 1308 c.581C>A c.(580-582)tCa>tAa p.S194* SYBU_ENST00000532779.1_Nonsense_Mutation_p.S129*|SYBU_ENST00000528647.1_Nonsense_Mutation_p.S196*|SYBU_ENST00000422135.1_Nonsense_Mutation_p.S197*|SYBU_ENST00000408889.3_Nonsense_Mutation_p.S78*|SYBU_ENST00000533065.1_Nonsense_Mutation_p.S78*|SYBU_ENST00000440310.1_Nonsense_Mutation_p.S197*|SYBU_ENST00000433638.1_Nonsense_Mutation_p.S197*|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000533171.1_Nonsense_Mutation_p.S197*|SYBU_ENST00000528331.1_Nonsense_Mutation_p.S78*|SYBU_ENST00000424158.2_Nonsense_Mutation_p.S202*|SYBU_ENST00000533895.1_Nonsense_Mutation_p.S196*|SYBU_ENST00000529175.1_5'UTR|SYBU_ENST00000408908.2_Nonsense_Mutation_p.S197*|SYBU_ENST00000446070.2_Nonsense_Mutation_p.S196*|SYBU_ENST00000276646.9_Nonsense_Mutation_p.S197*|SYBU_ENST00000529690.1_Nonsense_Mutation_p.S67*|SYBU_ENST00000419099.1_Nonsense_Mutation_p.S196* NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 197 Ser-rich.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 CCGCGGGGATGATGGGCTGCT 0.517000 18 131 6.44725e-10 5.73045e-09 0.000295444 1 0 ATAD2 29028 broad.mit.edu 37 8 124382178 124382178 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:124382178C>G ENST00000287394.5 - 7 921 c.814G>C c.(814-816)Gat>Cat p.D272H ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 272 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) tcatcatcatcatcatcgtca 0.363000 5 23 0 0 0.000602214 0 0 EP400 57634 broad.mit.edu 37 12 132446281 132446281 + Missense_Mutation SNP T T C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr12:132446281T>C ENST00000333577.4 + 2 1226 c.1117T>C c.(1117-1119)Tac>Cac p.Y373H EP400_ENST00000389562.2_Missense_Mutation_p.Y373H|EP400_ENST00000330386.6_Missense_Mutation_p.Y373H|EP400_ENST00000332482.4_Missense_Mutation_p.Y373H|EP400_ENST00000389561.2_Missense_Mutation_p.Y373H Q96L91 EP400_HUMAN E1A binding protein p400 373 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGACTATCATTACCAGGAGAT 0.473000 8 66 0 0 0.000157383 0 0 SGOL1 151648 broad.mit.edu 37 3 20225184 20225184 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:20225184C>T ENST00000412997.1 - 3 606 c.255G>A c.(253-255)ctG>ctA p.L85L SGOL1_ENST00000443724.1_Silent_p.L85L|SGOL1_ENST00000419233.2_Silent_p.L85L|SGOL1_ENST00000306698.2_Silent_p.L85L|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Silent_p.L85L|SGOL1_ENST00000421451.1_Silent_p.L85L|SGOL1_ENST00000452020.1_Silent_p.L85L|SGOL1_ENST00000263753.4_Silent_p.L85L|SGOL1_ENST00000437051.1_Silent_p.L85L|SGOL1_ENST00000383774.1_Silent_p.L85L|SGOL1_ENST00000425061.1_Silent_p.L85L|SGOL1_ENST00000412868.1_Silent_p.L85L|SGOL1_ENST00000417364.1_Silent_p.L85L|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000442720.1_Silent_p.L85L NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 85 Necessary for interaction with PPP2CA and PPP2R1A. attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 ATTCTTTTCTCAGCTGTAGGA 0.338000 9 86 0 0 0.000442599 0 0 MLIP 90523 broad.mit.edu 37 6 54095691 54095691 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr6:54095691C>T ENST00000502396.1 + 12 2930 c.2898C>T c.(2896-2898)ctC>ctT p.L966L MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Silent_p.L431L|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000358276.5_Intron NM_001281747.1 NP_001268676.1 Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 431 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 CTCACACCCTCCTCAGTCACA 0.463000 12 60 0 0 0.000978159 0 0 RIMS2 9699 broad.mit.edu 37 8 105160951 105160951 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:105160951C>T ENST00000436393.2 + 23 3504 c.3263C>T c.(3262-3264)tCt>tTt p.S1088F RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 516 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGCAGCCAGTCTGACACTGCA 0.517000 HNSCC(12;0.0054) 4 16 0 0 0.00024832 0 0 MFSD10 10227 broad.mit.edu 37 4 2934086 2934086 + Nonsense_Mutation SNP C C A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr4:2934086C>A ENST00000329687.4 - 5 1219 c.685G>T c.(685-687)Gag>Tag p.E229* MFSD10_ENST00000514800.1_Nonsense_Mutation_p.E229*|MFSD10_ENST00000355443.4_Nonsense_Mutation_p.E229*|MFSD10_ENST00000508221.1_Nonsense_Mutation_p.E229*|MFSD10_ENST00000507555.1_Nonsense_Mutation_p.E229* NM_001120.4 NP_001111.3 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 10 229 apoptosis integral to membrane tetracycline transporter activity breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) ACCCGTTTCTCCAGGGGCAGC 0.622000 6 19 0.00116845 0.00989376 0.00116845 1 0 CPSF1 29894 broad.mit.edu 37 8 145622615 145622615 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr8:145622615G>C ENST00000349769.3 - 23 2493 c.2399C>G c.(2398-2400)cCc>cGc p.P800R NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 800 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CCGCCAGTCGGGAAGCTGGTA 0.647000 2 3 0 0 6.4e-05 0 0 KDM6B 23135 broad.mit.edu 37 17 7749991 7749991 + Missense_Mutation SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:7749991C>T ENST00000254846.5 + 8 1033 c.644C>T c.(643-645)tCa>tTa p.S215L KDM6B_ENST00000448097.2_Missense_Mutation_p.S215L NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 215 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GCAGCACTCTCAGGCCCCTCA 0.637000 15 86 0 0 0.000308642 0 0 SEMA4C 54910 broad.mit.edu 37 2 97530101 97530101 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr2:97530101C>T ENST00000305476.5 - 10 1113 c.981G>A c.(979-981)tcG>tcA p.S327S NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 327 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 CACAGATGGCCGACAGGTACA 0.582000 16 162 0 0 0.00074312 0 0 RAG2 5897 broad.mit.edu 37 11 36615460 36615460 + Missense_Mutation SNP C C G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr11:36615460C>G ENST00000311485.3 - 2 420 c.259G>C c.(259-261)Gaa>Caa p.E87Q NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 87 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TGATGCTTTTCAGACTCCAAG 0.418000 Familial Hemophagocytic Lymphohistiocytosis 20 366 0 0 0.00152264 0 0 ASS1 445 broad.mit.edu 37 9 133364826 133364826 + Missense_Mutation SNP G G C TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr9:133364826G>C ENST00000372394.1 + 13 1426 c.945G>C c.(943-945)ttG>ttC p.L315F ASS1_ENST00000372393.3_Missense_Mutation_p.L315F|ASS1_ENST00000352480.5_Missense_Mutation_p.L315F P00966 ASSY_HUMAN argininosuccinate synthase 1 315 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) GCCTGGGCTTGAAATTTGCTG 0.542000 21 221 0 0 0.000375601 0 0 OR2M2 391194 broad.mit.edu 37 1 248344190 248344190 + Silent SNP C C T TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr1:248344190C>T ENST00000359682.2 + 1 903 c.903C>T c.(901-903)ttC>ttT p.F301F NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTAGAGCATTCATGAAGATCT 0.423000 21 105 0 0 0.00152264 0 0 KDM3B 51780 broad.mit.edu 37 5 137727502 137727502 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr5:137727502G>A ENST00000314358.5 + 8 2381 c.2181G>A c.(2179-2181)tcG>tcA p.S727S KDM3B_ENST00000394866.1_Silent_p.S383S|KDM3B_ENST00000542866.1_Intron NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 727 Ser-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GCTCCAGCTCGCCCACCAGCA 0.607000 10 77 0 0 0.000442599 0 0 LOC101243545 101243545 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 3 5 --- --- --- --- MBL1P 8512 broad.mit.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr10:81680656delA ENST00000480805.1 + 0 723 NR_002724.2 GCTTTTGGGGAAAAAAAAAAG 0.542 2 4 --- --- --- --- NUTM2A-AS1 728190 broad.mit.edu 37 10 88975874 88975876 + RNA DEL TCT TCT - TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr10:88975874_88975876delTCT ENST00000451940.2 - 0 600 ACAGCTGAAGTCTTCTTGCACTT 0.547 8 47 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 2 4 --- --- --- --- SMARCE1 6605 broad.mit.edu 37 17 38792242 38792247 + In_Frame_Del DEL TGTCTC TGTCTC - TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr17:38792242_38792247delTGTCTC ENST00000348513.6 - 7 1257_1262 c.477_482delGAGACA c.(475-483)cagagacaa>caa p.159_161QRQ>Q KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000578044.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_ENST00000400122.3_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_ENST00000544009.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_ENST00000377808.4_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_ENST00000580419.1_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_ENST00000431889.2_In_Frame_Del_p.141_143QRQ>Q NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 159 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) CATGCGAGATTGTCTCTGTCGACTTT 0.422 16 99 --- --- --- --- ZNF180 7733 broad.mit.edu 37 19 44982133 44982134 + Frame_Shift_Del DEL CT CT - TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 537e0d59-dd1c-479e-877f-eb9523c0967e 0840ead2-aecf-458d-b042-4b5acda453c8 g.chr19:44982133_44982134delCT ENST00000221327.4 - 5 845_846 c.564_565delAG c.(562-567)agagtcfs p.RV188fs ZNF180_ENST00000391956.4_Frame_Shift_Del_p.RV163fs|ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Frame_Shift_Del_p.RV161fs NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V189I(1) NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) CTTTTGCAGACTCTCTCATGAA 0.391 7 83 --- --- --- ---