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 SPEN 23013 broad.mit.edu 37 1 16260826 16260826 + Silent SNP G G A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr1:16260826G>A ENST00000375759.3 + 11 8295 c.8091G>A c.(8089-8091)gtG>gtA p.V2697V NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2697 RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AAGGGCCTGTGAATGTTCTTA 0.597 11 79 --- --- --- --- ILDR2 387597 broad.mit.edu 37 1 166904684 166904684 + Missense_Mutation SNP C C G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr1:166904684C>G ENST00000271417.3 - 6 789 c.734G>C c.(733-735)gGg>gCg p.G245A ILDR2_ENST00000469934.2_Missense_Mutation_p.G245A|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G226A|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 245 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GGGAGGGTACCCGGCCTTTGC 0.582 10 25 --- --- --- --- LTBP1 4052 broad.mit.edu 37 2 33487888 33487888 + Missense_Mutation SNP G G T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr2:33487888G>T ENST00000354476.3 + 14 2541 c.2518G>T c.(2518-2520)Ggt>Tgt p.G840C LTBP1_ENST00000404816.2_Splice_Site_p.V840L|LTBP1_ENST00000390003.4_Missense_Mutation_p.G514C|LTBP1_ENST00000407925.1_Splice_Site_p.V514L|LTBP1_ENST00000404525.1_Splice_Site_p.V461L|LTBP1_ENST00000402934.1_Splice_Site_p.V461L|LTBP1_ENST00000418533.2_Splice_Site_p.V514L NM_206943.2 NP_996826.2 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 839 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.G840S(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ACAGTTTCCAGGTAGCCTGTG 0.403 10 18 --- --- --- --- CKAP2L 150468 broad.mit.edu 37 2 113514462 113514462 + Silent SNP A A G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr2:113514462A>G ENST00000302450.6 - 4 564 c.486T>C c.(484-486)tgT>tgC p.C162C CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR NM_152515.3 NP_689728.3 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 162 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TAAAGTCTATACATTTACCAT 0.343 14 35 --- --- --- --- OR6B2 389090 broad.mit.edu 37 2 240969799 240969799 + Silent SNP G G A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr2:240969799G>A ENST00000402971.2 - 1 107 c.48C>T c.(46-48)ggC>ggT p.G16G NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) CCGTGGGGAGGCCCACCAGGA 0.567 11 31 --- --- --- --- PLD1 5337 broad.mit.edu 37 3 171362776 171362776 + Missense_Mutation SNP G G T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr3:171362776G>T ENST00000356327.5 - 21 2423 c.2353C>A c.(2353-2355)Ctt>Att p.L785I PLD1_ENST00000340989.4_Missense_Mutation_p.L823I|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.L823I NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 823 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CCTGGCAGAAGTGGTATCACG 0.423 5 139 --- --- --- --- PRSS12 8492 broad.mit.edu 37 4 119204214 119204214 + Missense_Mutation SNP G G C TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr4:119204214G>C ENST00000296498.3 - 12 2374 c.2092C>G c.(2092-2094)Ctg>Gtg p.L698V PRSS12_ENST00000510903.1_5'UTR NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 698 Peptidase S1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 TCTGGTACCAGAGTATGATAA 0.453 14 167 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155219050 155219050 + Missense_Mutation SNP A A G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr4:155219050A>G ENST00000357232.4 - 18 5050 c.5051T>C c.(5050-5052)tTc>tCc p.F1684S NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 14. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTGGTGGCTGAAGGAAATCTT 0.443 14 27 --- --- --- --- ADAMTS6 11174 broad.mit.edu 37 5 64766898 64766898 + Missense_Mutation SNP G G T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr5:64766898G>T ENST00000536360.1 - 3 982 c.169C>A c.(169-171)Ctc>Atc p.L57I Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 57 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GTAAAGCTGAGAAATGCTCCA 0.378 9 50 --- --- --- --- SRP19 6728 broad.mit.edu 37 5 112198210 112198210 + Missense_Mutation SNP T T C TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr5:112198210T>C ENST00000505459.1 + 2 202 c.47T>C c.(46-48)aTt>aCt p.I16T CTC-554D6.1_ENST00000520401.1_Silent_p.Y87Y|CTC-487M23.8_ENST00000506997.1_Missense_Mutation_p.I16T|SRP19_ENST00000282999.3_Missense_Mutation_p.I16T|SRP19_ENST00000515463.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR NM_001204193.1|NM_003135.2 NP_001191122.1|NP_003126.1 P09132 SRP19_HUMAN signal recognition particle 19kDa 16 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding breast(1)|cervix(1)|large_intestine(1) 3 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) GGCAGGTTTATTTGTATCTAT 0.458 5 19 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150908872 150908872 + Missense_Mutation SNP G G T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr5:150908872G>T ENST00000261800.5 - 14 9905 c.9893C>A c.(9892-9894)tCc>tAc p.S3298Y NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3298 Cadherin 29.|Poly-Ser. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGGGAAGAGGAGCTCTTCCG 0.512 39 68 --- --- --- --- PGBD1 84547 broad.mit.edu 37 6 28269439 28269439 + Missense_Mutation SNP G G T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr6:28269439G>T ENST00000405948.2 + 7 2228 c.1808G>T c.(1807-1809)gGt>gTt p.G603V PGBD1_ENST00000259883.3_Missense_Mutation_p.G603V NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 603 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 CTTGGGTTAGGTGGAAATCTA 0.403 43 76 --- --- --- --- GPR116 221395 broad.mit.edu 37 6 46826111 46826111 + Missense_Mutation SNP T T A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr6:46826111T>A ENST00000283296.7 - 17 3817 c.3529A>T c.(3529-3531)Atc>Ttc p.I1177F GPR116_ENST00000456426.2_Missense_Mutation_p.I1035F|GPR116_ENST00000362015.4_Missense_Mutation_p.I1177F|GPR116_ENST00000545669.1_Missense_Mutation_p.I606F|GPR116_ENST00000265417.7_Missense_Mutation_p.I1177F NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1177 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AGTGCTGGGATGGCGAAAGCC 0.547 5 80 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98522824 98522824 + Silent SNP G G T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr7:98522824G>T ENST00000359863.4 + 22 3122 c.2913G>T c.(2911-2913)ctG>ctT p.L971L TRRAP_ENST00000355540.3_Silent_p.L971L|TRRAP_ENST00000446306.3_Silent_p.L970L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 971 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AATGCTTCCTGGTGGCCATGA 0.562 70 67 --- --- --- --- ZKSCAN1 7586 broad.mit.edu 37 7 99621804 99621804 + Missense_Mutation SNP A A G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr7:99621804A>G ENST00000324306.6 + 3 688 c.454A>G c.(454-456)Atg>Gtg p.M152V ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.M116V|ZKSCAN1_ENST00000535170.1_Intron NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 152 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TGGACCTGAGATGCTCGCAAG 0.488 4 109 --- --- --- --- LAMB1 3912 broad.mit.edu 37 7 107642017 107642017 + Missense_Mutation SNP C C T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr7:107642017C>T ENST00000393561.1 - 1 455 c.271G>A c.(271-273)Gtc>Atc p.V91I LAMB1_ENST00000393560.1_Missense_Mutation_p.V67I|LAMB1_ENST00000222399.6_Missense_Mutation_p.V67I P07942 LAMB1_HUMAN laminin, beta 1 67 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAGTGGCTGACGATACAGTAG 0.652 4 28 --- --- --- --- EXOC4 60412 broad.mit.edu 37 7 133160106 133160106 + Missense_Mutation SNP A A G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr7:133160106A>G ENST00000253861.4 + 8 1236 c.1207A>G c.(1207-1209)Atg>Gtg p.M403V EXOC4_ENST00000393161.2_Missense_Mutation_p.M403V|EXOC4_ENST00000539845.1_Missense_Mutation_p.M302V NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 403 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GTACTTGGATATGAAAAATAC 0.358 117 104 --- --- --- --- GTF2E2 2961 broad.mit.edu 37 8 30472224 30472224 + Silent SNP A A G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr8:30472224A>G ENST00000355904.4 - 4 549 c.267T>C c.(265-267)caT>caC p.H89H NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 89 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CTCCTCGCTGATGCCGTGTCT 0.358 13 25 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77767002 77767002 + Silent SNP A A G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr8:77767002A>G ENST00000521891.2 + 10 8293 c.7845A>G c.(7843-7845)gaA>gaG p.E2615E ZFHX4_ENST00000518282.1_Silent_p.E2589E|ZFHX4_ENST00000455469.2_Silent_p.E2570E|ZFHX4_ENST00000050961.6_Silent_p.E2570E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2570 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCACCCCGGAACAGCTGGAAA 0.433 HNSCC(33;0.089) 12 34 --- --- --- --- NR6A1 2649 broad.mit.edu 37 9 127289153 127289153 + Missense_Mutation SNP A A G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr9:127289153A>G ENST00000487099.2 - 8 1263 c.1106T>C c.(1105-1107)aTc>aCc p.I369T NR6A1_ENST00000373584.3_Missense_Mutation_p.I365T|NR6A1_ENST00000344523.4_Missense_Mutation_p.I368T|NR6A1_ENST00000416460.2_Missense_Mutation_p.I364T NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 369 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 GAGCCGCTCGATCACCTCCAT 0.488 19 28 --- --- --- --- SPAG6 9576 broad.mit.edu 37 10 22634710 22634710 + Silent SNP G G A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr10:22634710G>A ENST00000376603.2 + 2 226 c.84G>A c.(82-84)gcG>gcA p.A28A SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000376601.1_Silent_p.A28A|SPAG6_ENST00000376624.3_Silent_p.A28A|SPAG6_ENST00000313311.6_Silent_p.A28A O75602 SPAG6_HUMAN sperm associated antigen 6 28 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 CGGAGCTGGCGACTAGACCCC 0.687 4 14 --- --- --- --- B4GALNT4 338707 broad.mit.edu 37 11 373292 373292 + Splice_Site SNP G G C TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr11:373292G>C ENST00000329962.6 + 6 636 c.e6+1 NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGTGGGCAAGGTACCCCCACC 0.627 6 12 --- --- --- --- B4GALNT4 338707 broad.mit.edu 37 11 379668 379668 + Missense_Mutation SNP C C T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr11:379668C>T ENST00000329962.6 + 15 2455 c.2455C>T c.(2455-2457)Cgc>Tgc p.R819C NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 819 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCTGGCCTGGCGCCAGGACGT 0.687 3 10 --- --- --- --- TRIM22 10346 broad.mit.edu 37 11 5718478 5718478 + Splice_Site SNP G G A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr11:5718478G>A ENST00000379965.3 + 3 701 c.424G>A c.(424-426)Gaa>Aaa p.E142K TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 142 immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) TTTCTTACAGGAAAAGCTGCA 0.458 OREG0003730 type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 13 --- --- --- --- GAL3ST3 89792 broad.mit.edu 37 11 65810951 65810951 + Missense_Mutation SNP G G T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr11:65810951G>T ENST00000312006.4 - 3 604 c.323C>A c.(322-324)cCc>cAc p.P108H GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P108H NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 108 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 GAAGTTGCGGGGGTAGCAGAA 0.692 11 65 --- --- --- --- P4HA3 283208 broad.mit.edu 37 11 74013632 74013632 + Missense_Mutation SNP T T G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr11:74013632T>G ENST00000331597.4 - 3 394 c.349A>C c.(349-351)Aag>Cag p.K117Q P4HA3_ENST00000427714.2_Missense_Mutation_p.K117Q NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 117 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) TAGCCATCCTTCAGAGCTGTA 0.463 5 79 --- --- --- --- OPCML 4978 broad.mit.edu 37 11 132305999 132305999 + Missense_Mutation SNP A A T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr11:132305999A>T ENST00000331898.7 - 6 1496 c.918T>A c.(916-918)aaT>aaA p.N306K OPCML_ENST00000524381.1_Missense_Mutation_p.N299K|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.N265K|OPCML_ENST00000541867.1_Missense_Mutation_p.N306K NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 306 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TGATGCTGGCATTGGTGTTCC 0.493 15 16 --- --- --- --- KIAA1551 55196 broad.mit.edu 37 12 32138464 32138464 + Missense_Mutation SNP G G T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr12:32138464G>T ENST00000312561.4 + 4 4989 c.4575G>T c.(4573-4575)caG>caT p.Q1525H KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639 KIAA1551 ACCATTCTCAGGAGTCTAAAA 0.363 17 27 --- --- --- --- ANKRD13A 88455 broad.mit.edu 37 12 110456956 110456956 + Missense_Mutation SNP A A C TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr12:110456956A>C ENST00000261739.4 + 6 723 c.557A>C c.(556-558)gAg>gCg p.E186A ANKRD13A_ENST00000550404.1_3'UTR NM_033121.1 NP_149112.1 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13A 186 endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1) 16 AACTGGGCGGAGTTAATGGAA 0.423 48 90 --- --- --- --- ZNF770 54989 broad.mit.edu 37 15 35275466 35275466 + Missense_Mutation SNP C C A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr15:35275466C>A ENST00000356321.4 - 3 514 c.170G>T c.(169-171)tGt>tTt p.C57F NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) ACACACATCACATTCAAATGG 0.358 41 54 --- --- --- --- CA12 771 broad.mit.edu 37 15 63638797 63638797 + Missense_Mutation SNP G G T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr15:63638797G>T ENST00000178638.3 - 3 658 c.218C>A c.(217-219)cCc>cAc p.P73H CA12_ENST00000344366.3_Missense_Mutation_p.P73H|CA12_ENST00000422263.2_Intron NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 73 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) GAACTCGAGGGGCGTGAGGCT 0.572 4 55 --- --- --- --- SPN 6693 broad.mit.edu 37 16 29675595 29675595 + Silent SNP C C A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr16:29675595C>A ENST00000360121.3 + 2 638 c.546C>A c.(544-546)acC>acA p.T182T SPN_ENST00000395389.2_Silent_p.T182T NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 182 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 CCAAAGGCACCTCTGGACCCC 0.592 41 145 --- --- --- --- MYH8 4626 broad.mit.edu 37 17 10296458 10296458 + Missense_Mutation SNP C C T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr17:10296458C>T ENST00000403437.2 - 36 5330 c.5236G>A c.(5236-5238)Gaa>Aaa p.E1746K CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1746 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGGATTACTTCTTCCACTTCA 0.393 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 45 184 --- --- --- --- PLXDC1 57125 broad.mit.edu 37 17 37243903 37243903 + Silent SNP G G A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr17:37243903G>A ENST00000315392.4 - 8 1075 c.864C>T c.(862-864)agC>agT p.S288S PLXDC1_ENST00000444911.2_Silent_p.S248S|PLXDC1_ENST00000394316.2_Silent_p.S288S|PLXDC1_ENST00000539608.1_Silent_p.S215S|PLXDC1_ENST00000493200.1_5'UTR NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 288 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TGGTGACCTTGCTGGGGTCCA 0.557 7 22 --- --- --- --- ABCA8 10351 broad.mit.edu 37 17 66902187 66902187 + Missense_Mutation SNP G G A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr17:66902187G>A ENST00000269080.2 - 17 2413 c.2276C>T c.(2275-2277)tCg>tTg p.S759L ABCA8_ENST00000430352.2_Missense_Mutation_p.S799L|ABCA8_ENST00000586539.1_Missense_Mutation_p.S799L NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 759 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TTATTTACCCGATTCATTAAT 0.328 29 57 --- --- --- --- APC2 10297 broad.mit.edu 37 19 1465241 1465241 + Silent SNP C C T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr19:1465241C>T ENST00000535453.1 + 14 3654 c.1941C>T c.(1939-1941)ggC>ggT p.G647G APC2_ENST00000233607.2_Silent_p.G647G|APC2_ENST00000238483.4_Silent_p.G373G|C19orf25_ENST00000588427.1_Intron O95996 APC2_HUMAN adenomatosis polyposis coli 2 647 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) ACGCGTGCGGCACGCTCTGGA 0.647 4 4 --- --- --- --- ZNF175 7728 broad.mit.edu 37 19 52090595 52090595 + Missense_Mutation SNP C C G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr19:52090595C>G ENST00000262259.2 + 5 1369 c.1011C>G c.(1009-1011)tgC>tgG p.C337W ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 337 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) CCTGTATATGCAAGGAATGTG 0.408 13 48 --- --- --- --- ZNF347 84671 broad.mit.edu 37 19 53643640 53643640 + Missense_Mutation SNP C C A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr19:53643640C>A ENST00000452676.2 - 5 2870 c.2444G>T c.(2443-2445)gGt>gTt p.G815V ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.G814V|ZNF347_ENST00000601469.2_Missense_Mutation_p.G815V NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 814 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AGGTTTCCCACCAGTATGGAT 0.418 66 154 --- --- --- --- ZNF665 79788 broad.mit.edu 37 19 53668835 53668835 + Nonsense_Mutation SNP G G C TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr19:53668835G>C ENST00000600412.1 - 2 828 c.713C>G c.(712-714)tCa>tGa p.S238* ZNF665_ENST00000396424.3_Nonsense_Mutation_p.S303* Q9H7R5 ZN665_HUMAN zinc finger protein 665 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TGCAAGGTGTGAATTTTGAGT 0.423 52 179 --- --- --- --- NCR1 9437 broad.mit.edu 37 19 55418146 55418146 + Missense_Mutation SNP G G C TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr19:55418146G>C ENST00000594765.1 + 3 361 c.336G>C c.(334-336)ttG>ttC p.L112F NCR1_ENST00000338835.5_Missense_Mutation_p.L112F|NCR1_ENST00000598576.1_Missense_Mutation_p.L100F|NCR1_ENST00000447255.1_Missense_Mutation_p.L112F|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.L112F O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 112 Ig-like 1. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) CCAGCAACTTGCTGGATCTGG 0.522 23 93 --- --- --- --- TRIM28 10155 broad.mit.edu 37 19 59061121 59061121 + Missense_Mutation SNP C C T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr19:59061121C>T ENST00000253024.5 + 14 2289 c.2000C>T c.(1999-2001)tCa>tTa p.S667L TRIM28_ENST00000341753.6_Missense_Mutation_p.S585L NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 667 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TGGAGCTGCTCACTCTGCCAT 0.592 53 73 --- --- --- --- GINS1 9837 broad.mit.edu 37 20 25388520 25388520 + Missense_Mutation SNP C C T TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr20:25388520C>T ENST00000262460.4 + 1 158 c.64C>T c.(64-66)Cct>Tct p.P22S GINS1_ENST00000484893.1_3'UTR|GINS1_ENST00000429262.2_Missense_Mutation_p.P22S NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) 22 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 AGGGCAACTGCCTGCCTTCAA 0.677 7 22 --- --- --- --- U2AF1 7307 broad.mit.edu 37 21 44514890 44514890 + Silent SNP A A G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr21:44514890A>G ENST00000459639.1 - 5 1162 c.138T>C c.(136-138)cgT>cgC p.R46R U2AF1_ENST00000380276.2_Silent_p.R119R|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_Silent_p.R119R|U2AF1_ENST00000398137.1_Silent_p.R46R Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 119 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 CATCTTCCTCACGGCGAAACT 0.448 Mis """CLL, MDS""" 3 38 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23956371 23956371 + Missense_Mutation SNP C C G TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chr22:23956371C>G ENST00000317749.5 - 9 869 c.572G>C c.(571-573)tGc>tCc p.C191S NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 191 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 TCTCAGTGAGCATCTTAAAAA 0.453 19 51 --- --- --- --- WAS 7454 broad.mit.edu 37 X 48547130 48547130 + Missense_Mutation SNP G G A TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chrX:48547130G>A ENST00000376701.4 + 10 1088 c.1013G>A c.(1012-1014)cGt>cAt p.R338H NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 338 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) AACAAGGGTCGTTCTGGTCCA 0.692 """Mis, N, F, S""" lymphoma 8 0 --- --- --- --- RLIM 51132 broad.mit.edu 37 X 73811565 73811565 + Frame_Shift_Del DEL G G - TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3030247-7910-4915-95bc-2409d9976413 80c2ed07-50fd-43ca-98d2-af4ed0fa6c87 g.chrX:73811565delG ENST00000332687.6 - 4 1803 c.1585delC c.(1585-1587)cttfs p.L529fs RLIM_ENST00000349225.2_Frame_Shift_Del_p.L529fs NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 529 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCAGGCTAAGGAAGGGCAAA 0.478 19 1 --- --- --- ---