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 KDM6A 7403 broad.mit.edu 37 X 44949094 44949094 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:44949094T>A ENST00000377967.4 + 25 3696 c.3655T>A c.(3655-3657)Tgg>Agg p.W1219R KDM6A_ENST00000543216.1_Missense_Mutation_p.W1140R|KDM6A_ENST00000536777.1_Missense_Mutation_p.W1174R|KDM6A_ENST00000382899.4_Missense_Mutation_p.W1226R NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1219 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 AGATTTGGTCTGGATAAATGC 0.408000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 7 34 0 0 0.001984 0 0 UGT2B15 7366 broad.mit.edu 37 4 69513062 69513062 + Silent SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr4:69513062A>G ENST00000338206.5 - 6 1362 c.1353T>C c.(1351-1353)caT>caC p.H451H NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 451 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity TTGGTTGGTCATGATGAATTC 0.388000 21 103 0 0 0.001523 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837210 12837210 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:12837210C>G ENST00000357726.4 + 3 947 c.920C>G c.(919-921)tCg>tGg p.S307W NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 307 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGTCAGAGTCGGACCTGAAG 0.557000 45 127 0 0 0.002222 0 0 SLC17A9 63910 broad.mit.edu 37 20 61594660 61594660 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:61594660C>T ENST00000370349.3 + 7 850 c.646C>T c.(646-648)Cgg>Tgg p.R216W SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.R222W Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 222 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 GGCCCAAAGCCGGCCGGTGTC 0.637000 19 42 0 0 0.001882 0 0 ARSJ 79642 broad.mit.edu 37 4 114823767 114823767 + Nonsense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr4:114823767G>C ENST00000315366.7 - 2 2329 c.1463C>G c.(1462-1464)tCa>tGa p.S488* ARSJ_ENST00000541197.1_Nonsense_Mutation_p.S488* NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 488 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TTTGCCAGTTGACAAGGTGAT 0.512000 33 61 0 0 0.002096 0 0 TNC 3371 broad.mit.edu 37 9 117808854 117808854 + Missense_Mutation SNP T T G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr9:117808854T>G ENST00000350763.4 - 17 5371 c.4960A>C c.(4960-4962)Atc>Ctc p.I1654L TNC_ENST00000423613.2_Intron|TNC_ENST00000542877.1_Missense_Mutation_p.I1291L|TNC_ENST00000346706.3_Missense_Mutation_p.I1108L|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1472L|TNC_ENST00000340094.3_Missense_Mutation_p.I1290L|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Missense_Mutation_p.I1199L NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1654 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GTATCTCTGATTTTGAGAACA 0.493000 43 135 0 0 0.006999 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032187 26032187 + Silent SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:26032187G>T ENST00000244661.2 - 1 101 c.102C>A c.(100-102)ggC>ggA p.G34G NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 34 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 TTTTCACGCCGCCGGTAGCCG 0.627000 16 138 4.7546e-09 5.89987e-09 0.004007 1 0 TUBGCP6 85378 broad.mit.edu 37 22 50671941 50671941 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr22:50671941C>T ENST00000439308.2 - 3 1412 c.920G>A c.(919-921)aGa>aAa p.R307K TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R307K NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 307 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGGCTCCTCTCTGTGGCCAGG 0.637000 3 12 0 0 0.004672 0 0 AADACL4 343066 broad.mit.edu 37 1 12726525 12726525 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:12726525C>G ENST00000376221.1 + 4 1003 c.1003C>G c.(1003-1005)Cag>Gag p.Q335E NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 335 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GGTCATCGCTCAGCTTCCTGA 0.517000 10 106 0 0 0.006214 0 0 IQGAP3 128239 broad.mit.edu 37 1 156532415 156532415 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:156532415G>C ENST00000361170.2 - 9 851 c.841C>G c.(841-843)Cag>Gag p.Q281E NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 281 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity p.Q281K(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATTTCAGCCTGAGTTAGGTAG 0.507000 49 135 0 0 0.003610 0 0 TTC25 83538 broad.mit.edu 37 17 40093075 40093075 + RNA SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:40093075G>A ENST00000591658.1 + 0 588 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) CACCAAGGGAGAGCCCAAGTG 0.522000 26 68 0 0 0.003330 0 0 PAQR8 85315 broad.mit.edu 37 6 52268776 52268776 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:52268776C>T ENST00000442253.2 + 2 939 c.765C>T c.(763-765)ttC>ttT p.F255F PAQR8_ENST00000360726.3_Silent_p.F255F NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 255 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) TCCTCTTCTTCCTGGTTAGCG 0.577000 23 52 0 0 0.003954 0 0 GRM7 2917 broad.mit.edu 37 3 6903352 6903352 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:6903352C>T ENST00000486284.1 + 1 551 c.277C>T c.(277-279)Ccc>Tcc p.P93S GRM7_ENST00000402647.2_Missense_Mutation_p.P93S|GRM7_ENST00000403881.1_Missense_Mutation_p.P93S|GRM7_ENST00000357716.4_Missense_Mutation_p.P93S|GRM7_ENST00000389336.4_Missense_Mutation_p.P93S NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 93 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CAACAGTGATCCCAACCTACT 0.607000 11 7 0 0 0.008291 0 0 JARID2 3720 broad.mit.edu 37 6 15501599 15501599 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:15501599G>A ENST00000341776.2 + 8 2651 c.2407G>A c.(2407-2409)Gac>Aac p.D803N JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000397311.3_Missense_Mutation_p.D631N|JARID2_ENST00000541660.1_Missense_Mutation_p.D765N NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 803 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGAGGAGGAGGACAAAGGCGT 0.587000 5 27 0 0 0.001168 0 0 KIF5A 3798 broad.mit.edu 37 12 57975223 57975223 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:57975223C>T ENST00000455537.2 + 25 3055 c.2781C>T c.(2779-2781)taC>taT p.Y927Y KIF5A_ENST00000286452.5_Silent_p.Y838Y NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 927 Globular. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CTGGCCACTACCCAGCATCCT 0.547000 9 72 0 0 0.004482 0 0 INPP4A 3631 broad.mit.edu 37 2 99156130 99156130 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:99156130T>A ENST00000074304.5 + 10 1203 c.810T>A c.(808-810)gaT>gaA p.D270E INPP4A_ENST00000523221.1_Missense_Mutation_p.D270E|INPP4A_ENST00000409540.3_Missense_Mutation_p.D270E|INPP4A_ENST00000409851.3_Missense_Mutation_p.D270E|INPP4A_ENST00000409016.3_Missense_Mutation_p.D270E|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Missense_Mutation_p.D270E NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 270 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 TAGAGGAAGATGCAGCCAGGT 0.562000 3 46 0 0 0.004672 0 0 HSD17B3 3293 broad.mit.edu 37 9 99003167 99003167 + Missense_Mutation SNP G G A rs28939085 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr9:99003167G>A ENST00000375263.3 - 10 742 c.695C>T c.(694-696)tCg>tTg p.S232L HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Intron NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 232 S -> L (in MPH; dbSNP:rs28939085). androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) CATTGCAGTCGAGACAGCATA 0.433000 13 50 0 0 0.001855 0 0 PLCH1 23007 broad.mit.edu 37 3 155200527 155200527 + Silent SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:155200527A>G ENST00000460012.1 - 23 3555 c.3198T>C c.(3196-3198)ggT>ggC p.G1066G PLCH1_ENST00000340059.7_Silent_p.G1104G|PLCH1_ENST00000334686.6_Silent_p.G1066G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.G1066G Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1104 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGATTTTCACACCATGCAGAT 0.473000 49 170 0 0 0.003610 0 0 PTPRN 5798 broad.mit.edu 37 2 220161748 220161748 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:220161748T>C ENST00000295718.2 - 15 2435 c.2195A>G c.(2194-2196)gAg>gGg p.E732G PTPRN_ENST00000423636.2_Missense_Mutation_p.E642G|PTPRN_ENST00000409251.3_Missense_Mutation_p.E703G NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 732 Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GATGTTGCCCTCCCCCTGCGC 0.637000 3 117 0 0 0.000248 0 0 COMTD1 118881 broad.mit.edu 37 10 76993922 76993922 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr10:76993922C>T ENST00000372538.3 - 7 780 c.698G>A c.(697-699)cGa>cAa p.R233Q COMTD1_ENST00000460899.1_5'UTR NM_144589.2 NP_653190.2 Q86VU5 CMTD1_HUMAN catechol-O-methyltransferase domain containing 1 233 integral to membrane O-methyltransferase activity central_nervous_system(1)|large_intestine(1)|lung(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) GTTTAGGTTTCGCACACACTC 0.682000 23 58 0 0 0.002780 0 0 DSG4 147409 broad.mit.edu 37 18 28968849 28968849 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr18:28968849G>A ENST00000359747.4 + 5 414 c.385G>A c.(385-387)Gct>Act p.A129T RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.A129T NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 129 Cadherin 1. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTATTGCCGGGCTCTGAATTC 0.368000 32 71 0 0 0.005524 0 0 USP19 10869 broad.mit.edu 37 3 49148936 49148936 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:49148936C>T ENST00000453664.1 - 21 3496 c.3178G>A c.(3178-3180)Gaa>Aaa p.E1060K USP19_ENST00000398888.2_Missense_Mutation_p.E969K|USP19_ENST00000398892.3_Missense_Mutation_p.E1009K|USP19_ENST00000398896.1_Missense_Mutation_p.E777K|USP19_ENST00000398898.2_Missense_Mutation_p.E1009K|USP19_ENST00000417901.1_Missense_Mutation_p.E1072K|USP19_ENST00000434032.2_Missense_Mutation_p.E1070K NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 969 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATCTTACCTTCGGGTCGGGAC 0.607000 17 17 0 0 0.006122 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 5 77 0 0 0.000602 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 65 0 0 0.001984 0 0 NSMCE1 197370 broad.mit.edu 37 16 27237111 27237111 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr16:27237111G>A ENST00000361439.4 - 7 756 c.657C>T c.(655-657)taC>taT p.Y219Y NSMCE1_ENST00000565384.1_5'UTR NM_145080.3 NP_659547.2 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog (S. cerevisiae) 219 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding endometrium(2)|large_intestine(2)|lung(3) 7 TCGACTGGAAGTACTTGGCCA 0.612000 20 48 0 0 0.008871 0 0 ZNF574 64763 broad.mit.edu 37 19 42584413 42584413 + Missense_Mutation SNP G G A rs147085110 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:42584413G>A ENST00000600245.1 + 2 2310 c.1655G>A c.(1654-1656)cGg>cAg p.R552Q ZNF574_ENST00000222339.7_Missense_Mutation_p.R642Q|ZNF574_ENST00000359044.4_Missense_Mutation_p.R552Q Q6ZN55 ZN574_HUMAN zinc finger protein 574 552 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CGGCCCTACCGGTGTGGGGAC 0.657000 51 87 0 0 0.003610 0 0 ZNF845 91664 broad.mit.edu 37 19 53855637 53855637 + Missense_Mutation SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:53855637A>G ENST00000458035.1 + 4 1826 c.1709A>G c.(1708-1710)cAa>cGa p.Q570R ZNF845_ENST00000595091.1_Missense_Mutation_p.Q570R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ATTTACCATCAAGCAATCCAT 0.398000 4 41 0 0 0.000248 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76572217 76572217 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr16:76572217C>G ENST00000307431.8 + 20 3582 c.3197C>G c.(3196-3198)tCt>tGt p.S1066C CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S1070C|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S994C|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1018C NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1067 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GAATACCTTTCTGTGATCATT 0.358000 17 125 0 0 0.004007 0 0 EID2 163126 broad.mit.edu 37 19 40030624 40030624 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:40030624C>T ENST00000390658.2 - 1 246 c.96G>A c.(94-96)cgG>cgA p.R32R NM_153232.3 NP_694964.3 Q8N6I1 EID2_HUMAN EP300 interacting inhibitor of differentiation 2 32 cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly nucleus SMAD binding large_intestine(2)|lung(1)|urinary_tract(1) 4 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) GGGCCGGCTCCCGCCTCCCGC 0.751000 15 23 0 0 0.002450 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734834 12734834 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:12734834C>T ENST00000380682.1 + 15 2762 c.2256C>T c.(2254-2256)gaC>gaT p.D752D NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 752 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 AGGACGAGGACGAGGTGAGCT 0.582000 6 142 0 0 0.001984 0 0 MYH7B 57644 broad.mit.edu 37 20 33589835 33589835 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:33589835G>A ENST00000262873.7 + 42 5979 c.5887G>A c.(5887-5889)Gaa>Aaa p.E1963K NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1921 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGACATGGCGGAAACCCAGGC 0.672000 14 62 0 0 0.001855 0 0 TP53 7157 broad.mit.edu 37 17 7578478 7578478 + Missense_Mutation SNP G G T rs137852790 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:7578478G>T ENST00000420246.2 - 5 584 c.452C>A c.(451-453)cCc>cAc p.P151H TP53_ENST00000269305.4_Missense_Mutation_p.P151H|TP53_ENST00000455263.2_Missense_Mutation_p.P151H|TP53_ENST00000413465.2_Missense_Mutation_p.P151H|TP53_ENST00000445888.2_Missense_Mutation_p.P151H|TP53_ENST00000359597.4_Missense_Mutation_p.P151H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 151 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (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.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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) GCCGGGCGGGGGTGTGGAATC 0.607000 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) 39 24 4.07013e-28 5.1636e-28 0.008740 1 0 TRPM1 4308 broad.mit.edu 37 15 31294599 31294599 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr15:31294599T>C ENST00000542188.1 - 27 4668 c.4355A>G c.(4354-4356)tAt>tGt p.Y1452C RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.Y1435C|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1413C NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1413 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTCCAGGGGATAGGAAATAGT 0.393000 37 74 0 0 0.003271 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20885884 20885884 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:20885884G>T ENST00000381552.1 + 10 1596 c.1228G>T c.(1228-1230)Ggg>Tgg p.G410W SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G410W|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G361W|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G410W|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G292W Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 410 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AATATTCTCTGGGGGGATAGT 0.383000 16 74 3.52763e-06 4.28355e-06 0.004990 1 0 APBA1 320 broad.mit.edu 37 9 72082878 72082878 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr9:72082878C>T ENST00000265381.4 - 5 1565 c.1343G>A c.(1342-1344)gGa>gAa p.G448E NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 448 Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GTCGCAGGGTCCCGGAACTGT 0.557000 65 154 0 0 0.003610 0 0 CCDC88A 55704 broad.mit.edu 37 2 55528370 55528370 + Missense_Mutation SNP A A T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:55528370A>T ENST00000436346.1 - 28 5557 c.4716T>A c.(4714-4716)gaT>gaA p.D1572E CCDC88A_ENST00000413716.2_Missense_Mutation_p.D1571E|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D1571E|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D1544E|CCDC88A_ENST00000422883.2_Missense_Mutation_p.D100E NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1572 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TACTAGAATCATCACTAACAC 0.308000 7 24 0 0 0.004482 0 0 MMP2 4313 broad.mit.edu 37 16 55539340 55539340 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr16:55539340T>C ENST00000219070.4 + 13 2478 c.1969T>C c.(1969-1971)Tgg>Cgg p.W657R MMP2_ENST00000543485.1_Missense_Mutation_p.W581R|MMP2_ENST00000570308.1_Missense_Mutation_p.W581R|MMP2_ENST00000437642.2_Missense_Mutation_p.W607R NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 657 Hemopexin-like 4.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CAAATCCGACTGGCTAGGCTG 0.567000 8 175 0 0 0.004482 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27824450 27824450 + Silent SNP T T G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:27824450T>G ENST00000318304.8 + 14 1567 c.1284T>G c.(1282-1284)acT>acG p.T428T PPFIBP1_ENST00000228425.6_Silent_p.T411T|PPFIBP1_ENST00000537927.1_Silent_p.T275T|PPFIBP1_ENST00000542629.1_Silent_p.T397T NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 428 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) CAAAGTTGACTCCTAAGCCAG 0.343000 7 71 0 0 0.004482 0 0 CLCN5 1184 broad.mit.edu 37 X 49854987 49854987 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:49854987G>A ENST00000376088.3 + 13 2600 c.1959G>A c.(1957-1959)atG>atA p.M653I CLCN5_ENST00000376091.3_Missense_Mutation_p.M653I|CLCN5_ENST00000307367.2_Missense_Mutation_p.M583I|CLCN5_ENST00000376108.3_Missense_Mutation_p.M583I NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 583 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) CCCTGGCAATGGATGTGATGA 0.468000 4 65 0 0 0.000248 0 0 KCNA4 3739 broad.mit.edu 37 11 30033979 30033979 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:30033979G>C ENST00000328224.6 - 2 1480 c.247C>G c.(247-249)Cgg>Ggg p.R83G NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 83 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CTCCTCCTCCGACTACCCCGG 0.632000 4 81 0 0 0.000248 0 0 GIP 2695 broad.mit.edu 37 17 47041687 47041687 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:47041687T>C ENST00000357424.2 - 3 342 c.242A>G c.(241-243)aAg>aGg p.K81R NM_004123.2 NP_004114.1 P09681 GIP_HUMAN gastric inhibitory polypeptide 81 energy reserve metabolic process|signal transduction extracellular region|soluble fraction hormone activity lung(2)|skin(1)|stomach(1) 4 CTTCTTCCCCTTTTGGGCCAG 0.562000 3 119 0 0 0.004672 0 0 MYH8 4626 broad.mit.edu 37 17 10298660 10298660 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:10298660C>G ENST00000403437.2 - 34 4846 c.4752G>C c.(4750-4752)gaG>gaC p.E1584D CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1584 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 GGTCAATTTCCTCATCCTTTT 0.433000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 10 58 0 0 0.006214 0 0 MAP3K4 4216 broad.mit.edu 37 6 161470492 161470492 + Missense_Mutation SNP G G C rs111941258 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:161470492G>C ENST00000392142.4 + 3 1336 c.1188G>C c.(1186-1188)tgG>tgC p.W396C MAP3K4_ENST00000366919.2_Missense_Mutation_p.W396C|MAP3K4_ENST00000366920.2_Missense_Mutation_p.W396C|MAP3K4_ENST00000348824.7_Missense_Mutation_p.W396C NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 396 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TCTGTTTGTGGTTAAACATCA 0.403000 10 54 0 0 0.006214 0 0 ATRN 8455 broad.mit.edu 37 20 3605205 3605205 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:3605205C>T ENST00000262919.5 + 25 3917 c.3849C>T c.(3847-3849)ttC>ttT p.F1283F NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1283 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 TACAGTTCTTCGTGACTTTCT 0.388000 34 197 0 0 0.003271 0 0 JAG2 3714 broad.mit.edu 37 14 105609208 105609208 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr14:105609208C>T ENST00000331782.3 - 26 3944 c.3541G>A c.(3541-3543)Gag>Aag p.E1181K JAG2_ENST00000347004.2_Missense_Mutation_p.E1143K NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 1181 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CCCAGATCCTCGTCCTCCTCA 0.701000 19 13 0 0 0.007413 0 0 RNF213 57674 broad.mit.edu 37 17 78348328 78348328 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:78348328G>A ENST00000582970.1 + 50 13156 c.13013G>A c.(13012-13014)cGt>cAt p.R4338H RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H 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) AAGGCTCTCCGTGATGCTGTG 0.577000 41 28 0 0 0.006999 0 0 NOB1 28987 broad.mit.edu 37 16 69782153 69782153 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr16:69782153C>T ENST00000268802.5 - 7 835 c.806G>A c.(805-807)cGc>cAc p.R269H NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 269 nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GCCATGGCAGCGCAAGATGTA 0.522000 5 41 0 0 0.001984 0 0 TBX21 30009 broad.mit.edu 37 17 45820480 45820480 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:45820480G>A ENST00000177694.1 + 3 901 c.690G>A c.(688-690)gcG>gcA p.A230A NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 230 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 ACACAGGAGCGCACTGGATGC 0.552000 34 56 0 0 0.002445 0 0 WNK1 65125 broad.mit.edu 37 12 978050 978050 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:978050C>T ENST00000537687.1 + 9 3801 c.3158C>T c.(3157-3159)tCc>tTc p.S1053F WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.S1138F|WNK1_ENST00000574564.1_Missense_Mutation_p.S352F|WNK1_ENST00000535572.1_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 808 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCCAGTGATTCCTCACAAATC 0.488000 6 244 0 0 0.001168 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498721 73498721 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:73498721C>T ENST00000321617.3 - 18 3020 c.2434G>A c.(2434-2436)Gag>Aag p.E812K CASKIN2_ENST00000433559.2_Missense_Mutation_p.E730K NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 812 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCTCCCCCTCAGCATCCCCC 0.692000 10 3 0 0 0.001368 0 0 MIOS 54468 broad.mit.edu 37 7 7613368 7613368 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:7613368C>T ENST00000340080.4 + 4 1683 c.1262C>T c.(1261-1263)cCa>cTa p.P421L MIOS_ENST00000405785.1_Missense_Mutation_p.P421L NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 421 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AATGAAGATCCACAGCTCAAG 0.408000 19 81 0 0 0.008871 0 0 CD28 940 broad.mit.edu 37 2 204594418 204594418 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:204594418T>C ENST00000374481.3 + 4 427 c.205T>C c.(205-207)Ttt>Ctt p.F69L CD28_ENST00000324106.7_Missense_Mutation_p.F153L|CD28_ENST00000458610.2_Missense_Mutation_p.F167L|CD28_ENST00000374478.4_Missense_Mutation_p.F34L P10747 CD28_HUMAN CD28 molecule 153 Ig-like V-type. cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 TTCTAAGCCCTTTTGGGTGCT 0.443000 3 129 0 0 0.004672 0 0 JPH3 57338 broad.mit.edu 37 16 87724057 87724057 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr16:87724057C>T ENST00000284262.2 + 4 2333 c.2091C>T c.(2089-2091)ttC>ttT p.F697F JPH3_ENST00000563609.1_3'UTR NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 697 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) ACTTGACCTTCTCCCCGCCCC 0.672000 8 6 0 0 0.004482 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136554958 136554958 + Missense_Mutation SNP A A T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr8:136554958A>T ENST00000355849.5 + 3 679 c.269A>T c.(268-270)gAa>gTa p.E90V KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 90 KH. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) TTACAAGAAGAAACCTTGACA 0.363000 6 63 0 0 0.001168 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 47 0 0 0.000248 0 0 TUBD1 51174 broad.mit.edu 37 17 57958324 57958324 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:57958324C>T ENST00000325752.3 - 4 745 c.468G>A c.(466-468)caG>caA p.Q156Q TUBD1_ENST00000340993.6_Silent_p.Q156Q|TUBD1_ENST00000394239.3_Silent_p.Q156Q|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000592426.1_Silent_p.Q156Q|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000376094.4_Silent_p.Q156Q NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 156 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) CTTCTAAATTCTGTGTAACGA 0.383000 21 93 0 0 0.001523 0 0 LDB3 11155 broad.mit.edu 37 10 88451696 88451696 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr10:88451696G>A ENST00000429277.2 + 7 1082 c.937G>A c.(937-939)Gtc>Atc p.V313I LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000372066.3_Missense_Mutation_p.V198I|LDB3_ENST00000458213.2_Missense_Mutation_p.V198I|LDB3_ENST00000372056.4_Missense_Mutation_p.V313I|LDB3_ENST00000310944.6_Missense_Mutation_p.V245I|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Missense_Mutation_p.V245I|LDB3_ENST00000263066.6_Missense_Mutation_p.V198I NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 302 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 CGCCTCTCCCGTCTACCAGGC 0.602000 6 107 0 0 0.001168 0 0 PHF19 26147 broad.mit.edu 37 9 123632758 123632758 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr9:123632758C>T ENST00000373896.3 - 4 579 c.327G>A c.(325-327)ccG>ccA p.P109P PHF19_ENST00000312189.6_Silent_p.P109P NM_015651.1 NP_056466.1 Q5T6S3 PHF19_HUMAN PHD finger protein 19 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCTCATTCAGCGGCCCTGATG 0.627000 24 183 0 0 0.003330 0 0 CUL4B 8450 broad.mit.edu 37 X 119666336 119666336 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:119666336C>G ENST00000371322.5 - 18 2441 c.2380G>C c.(2380-2382)Gat>Cat p.D794H CUL4B_ENST00000404115.3_Missense_Mutation_p.D812H|CUL4B_ENST00000336592.6_Missense_Mutation_p.D799H NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 812 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTGAAATCATCATTACAAATG 0.368000 15 45 0 0 0.002450 0 0 NOTCH3 4854 broad.mit.edu 37 19 15272483 15272483 + Nonsense_Mutation SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:15272483C>A ENST00000263388.2 - 33 6031 c.5956G>T c.(5956-5958)Gag>Tag p.E1986* NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1986 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TTGGCAGCCTCATAGCTGCCC 0.627000 3 13 0.004672 0.00519111 0.004672 1 0 WDFY3 23001 broad.mit.edu 37 4 85752750 85752750 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr4:85752750C>T ENST00000322366.6 - 8 992 c.585G>A c.(583-585)gtG>gtA p.V195V WDFY3_ENST00000295888.4_Silent_p.V195V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 195 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TGCACAGTTTCactaagatct 0.388000 18 41 0 0 0.004990 0 0 GRIA3 2892 broad.mit.edu 37 X 122459926 122459926 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:122459926G>T ENST00000264357.5 + 4 850 c.558G>T c.(556-558)tgG>tgT p.W186C GRIA3_ENST00000371251.1_Missense_Mutation_p.W186C|GRIA3_ENST00000371256.5_Missense_Mutation_p.W186C|GRIA3_ENST00000541091.1_Missense_Mutation_p.W170C|GRIA3_ENST00000542149.1_Missense_Mutation_p.W186C NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 186 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) AAAACAACTGGCAAGTAACAG 0.418000 15 46 0.000308642 0.000349794 0.003163 1 0 SCAND3 114821 broad.mit.edu 37 6 28554410 28554410 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:28554410C>T ENST00000452236.2 - 1 702 c.85G>A c.(85-87)Gaa>Aaa p.E29K SCAND3_ENST00000530247.1_Intron NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 29 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TGGTCTTCTTCTTTAACCTTT 0.502000 18 45 0 0 0.006122 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414914 14414914 + RNA SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr21:14414914G>A ENST00000507941.1 + 0 95 CCTTGATGGCGAAAACAGGAC 0.428000 6 24 0 0 0.004482 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8436124 8436124 + Splice_Site SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:8436124G>A ENST00000301455.2 + 6 928 c.e6-1 ANGPTL4_ENST00000393962.2_Splice_Site|ANGPTL4_ENST00000541807.1_Splice_Site NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 TCCCACTCCAGGCGAGTTCTG 0.647000 17 39 0 0 0.004007 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687181 68687181 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr10:68687181G>A ENST00000361320.4 + 2 1085 c.507G>A c.(505-507)ctG>ctA p.L169L CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 169 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CTAACTCCCTGAGAACCATCC 0.488000 27 90 0 0 0.005443 0 0 ZNF626 199777 broad.mit.edu 37 19 20807482 20807482 + Nonsense_Mutation SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:20807482C>A ENST00000601440.1 - 4 1347 c.1201G>T c.(1201-1203)Gaa>Taa p.E401* CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TTGCCACATTCTTCACATTTG 0.398000 22 70 2.27731e-05 2.70729e-05 0.001882 1 0 TJP1 7082 broad.mit.edu 37 15 30011211 30011211 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr15:30011211G>A ENST00000346128.6 - 21 3609 c.3135C>T c.(3133-3135)taC>taT p.Y1045Y TJP1_ENST00000400011.2_Silent_p.Y969Y|TJP1_ENST00000545208.2_Silent_p.Y965Y|TJP1_ENST00000356107.6_Silent_p.Y1045Y NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1045 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GTTTCTCTACGTATGGGAGTT 0.502000 73 172 0 0 0.003610 0 0 PLXNA3 55558 broad.mit.edu 37 X 153698126 153698126 + Splice_Site SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:153698126C>T ENST00000369682.3 + 28 4969 c.4795_splice c.e28+1 p.Y1598_splice PLXNA3_ENST00000493546.1_3'UTR NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1598 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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) TCAGCCGCTACGGTAGGTGTC 0.582000 17 49 0 0 0.004990 0 0 TMEM145 284339 broad.mit.edu 37 19 42819348 42819348 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:42819348G>A ENST00000598766.1 + 7 586 c.586G>A c.(586-588)Gag>Aag p.E196K TMEM145_ENST00000301204.3_Missense_Mutation_p.E172K Q8NBT3 TM145_HUMAN transmembrane protein 145 172 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) AGGGATCCTGGAGACAGATGT 0.532000 18 40 0 0 0.004990 0 0 ADAM29 11086 broad.mit.edu 37 4 175897109 175897109 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr4:175897109T>A ENST00000359240.3 + 5 1103 c.433T>A c.(433-435)Ttt>Att p.F145I ADAM29_ENST00000514159.1_Missense_Mutation_p.F145I|ADAM29_ENST00000445694.1_Missense_Mutation_p.F145I|ADAM29_ENST00000404450.4_Missense_Mutation_p.F145I NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 145 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TTCTACCACGTTTGAACATCT 0.383000 16 44 0 0 0.003163 0 0 IL19 29949 broad.mit.edu 37 1 207010066 207010066 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:207010066T>C ENST00000270218.6 + 3 998 c.59T>C c.(58-60)gTa>gCa p.V20A IL19_ENST00000340758.2_Missense_Mutation_p.V58A NM_013371.3 NP_037503.2 Q9UHD0 IL19_HUMAN interleukin 19 20 apoptosis|immune response|signal transduction extracellular space cytokine activity central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(75;0.211) TTGTGCTCAGTAGACAACCAC 0.468000 4 223 0 0 0.000248 0 0 LAMA2 3908 broad.mit.edu 37 6 129724979 129724979 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:129724979G>T ENST00000421865.2 + 40 5789 c.5740G>T c.(5740-5742)Gct>Tct p.A1914S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1914 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCTTGATGAGGCTAAAAACAT 0.398000 12 26 2.31682e-05 2.73514e-05 0.003163 1 0 DCX 1641 broad.mit.edu 37 X 110644290 110644290 + Silent SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:110644290G>C ENST00000338081.3 - 3 1047 c.876C>G c.(874-876)ctC>ctG p.L292L DCX_ENST00000356915.2_Silent_p.L211L|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Silent_p.L211L|DCX_ENST00000356220.3_Silent_p.L211L|DCX_ENST00000371993.2_Silent_p.L211L NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 292 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TGATATCAGTGAGGACTTGCT 0.493000 62 100 0 0 0.003610 0 0 ATP2B4 493 broad.mit.edu 37 1 203678644 203678644 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:203678644G>C ENST00000357681.5 + 11 2896 c.1773G>C c.(1771-1773)aaG>aaC p.K591N ATP2B4_ENST00000341360.2_Missense_Mutation_p.K591N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.K591N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.K591N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.K579N NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 591 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TGTACAGCAAGGGCGCCTCTG 0.557000 7 74 0 0 0.006214 0 0 NLGN1 22871 broad.mit.edu 37 3 173997073 173997073 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:173997073G>C ENST00000457714.1 + 6 1711 c.1282G>C c.(1282-1284)Ggc>Cgc p.G428R NLGN1_ENST00000545397.1_Missense_Mutation_p.G428R|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.G428R|NLGN1_ENST00000401917.3_Missense_Mutation_p.G468R NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 445 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATATCCTGAAGGCAAAGATGT 0.343000 6 90 0 0 0.001984 0 0 GPRASP2 114928 broad.mit.edu 37 X 101971267 101971267 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:101971267C>T ENST00000543253.1 + 5 2389 c.1470C>T c.(1468-1470)acC>acT p.T490T GPRASP2_ENST00000332262.5_Silent_p.T490T|GPRASP2_ENST00000535209.1_Silent_p.T490T NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 GGCCCCAAACCTGGGACGAGG 0.507000 30 121 0 0 0.002096 0 0 TMC8 147138 broad.mit.edu 37 17 76134756 76134756 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:76134756G>C ENST00000318430.5 + 14 2140 c.1766G>C c.(1765-1767)cGt>cCt p.R589P TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.R366P NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 589 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) ATTGGCCAGCGTGCCCTCCAC 0.667000 7 65 0 0 0.001984 0 0 ZNF202 7753 broad.mit.edu 37 11 123597653 123597653 + Silent SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:123597653C>G ENST00000336139.4 - 8 1361 c.999G>C c.(997-999)ctG>ctC p.L333L ZNF202_ENST00000530393.1_Silent_p.L333L|ZNF202_ENST00000529691.1_Silent_p.L333L O95125 ZN202_HUMAN zinc finger protein 202 333 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CCTCCAAACTCAGATCTTCCT 0.463000 9 226 0 0 0.004482 0 0 MBOAT7 79143 broad.mit.edu 37 19 54678113 54678113 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:54678113G>A ENST00000245615.1 - 8 1524 c.1044C>T c.(1042-1044)acC>acT p.T348T MBOAT7_ENST00000338624.6_Silent_p.T275T|MBOAT7_ENST00000431666.2_Silent_p.T275T NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 348 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCAGCAGCATGGTCCAGGCGC 0.687000 11 25 0 0 0.008291 0 0 PWWP2A 114825 broad.mit.edu 37 5 159520157 159520157 + Silent SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr5:159520157G>C ENST00000456329.3 - 2 1534 c.1500C>G c.(1498-1500)ggC>ggG p.G500G PWWP2A_ENST00000307063.7_Silent_p.G500G|PWWP2A_ENST00000523662.1_Silent_p.G500G NM_052927.2 NP_443159.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A 500 kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTGCCATCTTGCCACTCCGCA 0.537000 5 21 0 0 0.000602 0 0 BTBD11 121551 broad.mit.edu 37 12 108006645 108006645 + Splice_Site SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:108006645A>G ENST00000280758.5 + 6 2426 c.1899_splice c.e6+1 p.E633_splice BTBD11_ENST00000490090.2_Splice_Site_p.E633_splice|BTBD11_ENST00000420571.2_Splice_Site_p.E633_splice|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Splice_Site_p.E170_splice NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 633 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CTGAATGTGGAGGTGAGGGTG 0.632000 6 5 0 0 0.001984 0 0 BBX 56987 broad.mit.edu 37 3 107497345 107497345 + Nonsense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:107497345G>T ENST00000415149.2 + 13 2509 c.2182G>T c.(2182-2184)Gaa>Taa p.E728* BBX_ENST00000416476.2_Missense_Mutation_p.Q391H|BBX_ENST00000325805.8_Nonsense_Mutation_p.E728*|BBX_ENST00000402543.1_Nonsense_Mutation_p.E728*|BBX_ENST00000406780.1_Nonsense_Mutation_p.E728*|BBX_ENST00000473542.1_3'UTR NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 728 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) TGTGTCCTCAGAACCGACTAA 0.438000 5 71 3.59834e-05 4.16134e-05 0.001168 1 0 SLC22A12 116085 broad.mit.edu 37 11 64359366 64359366 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:64359366C>T ENST00000377574.1 + 1 1085 c.338C>T c.(337-339)aCg>aTg p.T113M SLC22A12_ENST00000377572.1_Missense_Mutation_p.T113M|SLC22A12_ENST00000377567.2_Missense_Mutation_p.T113M|SLC22A12_ENST00000336464.7_Missense_Mutation_p.T113M|SLC22A12_ENST00000473690.1_5'UTR NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 113 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GAGGCCGACACGGAGCCGTGT 0.672000 18 27 0 0 0.008871 0 0 OR2L2 26246 broad.mit.edu 37 1 248201955 248201955 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:248201955T>C ENST00000366479.2 + 1 482 c.386T>C c.(385-387)cTc>cCc p.L129P OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) TGCTTTCCTCTCCACTATCCC 0.433000 6 179 0 0 0.001984 0 0 FAM184A 79632 broad.mit.edu 37 6 119341142 119341142 + Splice_Site SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:119341142C>T ENST00000338891.7 - 4 1776 c.e4+1 FAM184A_ENST00000352896.5_Splice_Site|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Splice_Site|FAM184A_ENST00000521531.1_Splice_Site|FAM184A_ENST00000368475.4_Splice_Site NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTACTTTTTACCTTCTCCAGT 0.398000 7 60 0 0 0.001984 0 0 IRS4 8471 broad.mit.edu 37 X 107978579 107978579 + Silent SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:107978579A>G ENST00000372129.2 - 1 1072 c.996T>C c.(994-996)tgT>tgC p.C332C NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 332 IRS-type PTB. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 ATTCGTCTGCACACAAGGCTC 0.587000 100 199 0 0 0.003610 0 0 VPS33B 26276 broad.mit.edu 37 15 91544674 91544674 + Missense_Mutation SNP A A C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr15:91544674A>C ENST00000333371.3 - 19 1777 c.1424T>G c.(1423-1425)tTc>tGc p.F475C VPS33B_ENST00000535843.1_Missense_Mutation_p.F384C|VPS33B_ENST00000535906.1_Missense_Mutation_p.F448C NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 475 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) CAGAGAACTGAAGGCATCAGT 0.463000 7 65 0 0 0.001984 0 0 CCL23 6368 broad.mit.edu 37 17 34340342 34340342 + Silent SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:34340342G>T ENST00000293280.2 - 4 379 c.309C>A c.(307-309)ctC>ctA p.L103L CCL23_ENST00000591423.1_Silent_p.L86L NM_005064.3 NP_005055.2 P55773 CCL23_HUMAN chemokine (C-C motif) ligand 23 86 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding large_intestine(2)|liver(1)|lung(2)|prostate(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) CCTTCTTGGTGAGGAAGCTAG 0.542000 9 15 7.48243e-07 9.15117e-07 0.006214 1 0 ZNF208 7757 broad.mit.edu 37 19 22154781 22154781 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:22154781G>T ENST00000397126.4 - 4 3203 c.3055C>A c.(3055-3057)Cat>Aat p.H1019N ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ATTTTCTTATGTTCCATAAGG 0.408000 20 62 5.35267e-07 6.59386e-07 0.007413 1 0 KLHL4 56062 broad.mit.edu 37 X 86888820 86888820 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:86888820G>A ENST00000373119.4 + 8 1766 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K KLHL4_ENST00000373114.4_Missense_Mutation_p.E541K NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 541 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AAATACTGTAGAAAGATGGGA 0.413000 4 59 0 0 0.000248 0 0 LINGO4 339398 broad.mit.edu 37 1 151774300 151774300 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:151774300C>T ENST00000368820.3 - 2 1818 c.881G>A c.(880-882)cGa>cAa p.R294Q NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 294 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCTGAGCCTTCGGGCTGGGAT 0.622000 22 56 0 0 0.001882 0 0 PEF1 553115 broad.mit.edu 37 1 32098207 32098207 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:32098207C>T ENST00000373703.4 - 4 536 c.514G>A c.(514-516)Gat>Aat p.D172N NM_012392.3 NP_036524.1 Q9UBV8 PEF1_HUMAN penta-EF-hand domain containing 1 172 EF-hand 2. response to calcium ion cytoplasm|membrane calcium ion binding|protein heterodimerization activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186) STAD - Stomach adenocarcinoma(196;0.0546) CCGTAGACATCGATGCGGCCT 0.557000 14 32 0 0 0.002450 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408273 105408273 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr14:105408273G>T ENST00000333244.5 - 7 13634 c.13515C>A c.(13513-13515)gaC>gaA p.D4505E AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4505 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGTCTTGAGGTCCCCCTGCA 0.612000 7 264 8.12818e-05 9.33643e-05 0.001984 1 0 BRF2 55290 broad.mit.edu 37 8 37702008 37702008 + Nonstop_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr8:37702008T>C ENST00000220659.6 - 4 1380 c.1260A>G c.(1258-1260)tgA>tgG p.*420W GPR124_ENST00000315215.7_3'UTR NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 0 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) TGGATATCCATCAGGGAGGGT 0.488000 15 44 0 0 0.002450 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 6 55 0 0 0.001168 0 0 TTC23L 153657 broad.mit.edu 37 5 34845770 34845770 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr5:34845770G>A ENST00000505624.1 + 3 350 c.247G>A c.(247-249)Gaa>Aaa p.E83K TTC23L_ENST00000514080.1_3'UTR NM_144725.3 NP_653326.3 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 83 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1) 22 GCTGATTAAGGAAAAAATGGT 0.358000 3 28 0 0 0.004672 0 0 TSSK2 23617 broad.mit.edu 37 22 19118994 19118994 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr22:19118994T>C ENST00000399635.2 + 1 674 c.82T>C c.(82-84)Tct>Cct p.S28P DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 28 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) AAAAGTCAAATCTGCCTACTC 0.507000 14 34 0 0 0.002450 0 0 ALG13 79868 broad.mit.edu 37 X 110979971 110979971 + Silent SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:110979971T>C ENST00000394780.3 + 23 2571 c.2559T>C c.(2557-2559)gcT>gcC p.A853A ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Silent_p.A749A NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 853 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 CAGTTGCAGCTTCCTGTGCCA 0.403000 21 171 0 0 0.002780 0 0 SCN3A 6328 broad.mit.edu 37 2 166032739 166032739 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:166032739C>G ENST00000360093.3 - 3 657 c.166G>C c.(166-168)Gaa>Caa p.E56Q SCN3A_ENST00000283254.7_Missense_Mutation_p.E56Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.E56Q NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 56 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTTCCAGCTTCCAAGTCACTA 0.428000 4 119 0 0 0.000602 0 0 WDR4 10785 broad.mit.edu 37 21 44299570 44299570 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr21:44299570C>G ENST00000398208.2 - 1 95 c.36G>C c.(34-36)caG>caC p.Q12H WDR4_ENST00000330317.2_Missense_Mutation_p.Q12H NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5 NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2 P57081 WDR4_HUMAN WD repeat domain 4 12 tRNA modification cytoplasm|nucleoplasm protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2) 11 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) CCACCAACGTCTGCCCGCACA 0.682000 37 60 0 0 0.007835 0 0 AADAC 13 broad.mit.edu 37 3 151545495 151545495 + Silent SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:151545495C>G ENST00000232892.6 + 5 861 c.735C>G c.(733-735)ctC>ctG p.L245L RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 245 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CCAAATCACTCATGGTCAGAT 0.363000 19 58 0 0 0.007413 0 0 DDC 1644 broad.mit.edu 37 7 50611693 50611693 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:50611693G>T ENST00000444124.2 - 2 291 c.91C>A c.(91-93)Cct>Act p.P31T DDC_ENST00000380984.4_Missense_Mutation_p.P31T|DDC_ENST00000431062.1_Missense_Mutation_p.P31T|DDC_ENST00000426377.1_Missense_Mutation_p.P31T|DDC_ENST00000357936.5_Missense_Mutation_p.P31T NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 31 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TCCACGTCAGGGTAGACCTGG 0.567000 28 253 1.61788e-16 2.02235e-16 0.002445 1 0 SBF1 6305 broad.mit.edu 37 22 50897810 50897810 + Missense_Mutation SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr22:50897810C>A ENST00000380817.2 - 28 3883 c.3700G>T c.(3700-3702)Gcg>Tcg p.A1234S SBF1_ENST00000390679.3_Missense_Mutation_p.A1234S|SBF1_ENST00000348911.6_Missense_Mutation_p.A1235S NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1234 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CTCGAGTCCGCCTGGGACTGG 0.667000 16 18 0.00316338 0.00353799 0.003163 1 0 PLXND1 23129 broad.mit.edu 37 3 129281955 129281955 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:129281955G>T ENST00000393239.1 - 26 4828 c.4650C>A c.(4648-4650)aaC>aaA p.N1550K PLXND1_ENST00000324093.4_Missense_Mutation_p.N1550K Q9Y4D7 PLXD1_HUMAN plexin D1 1550 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TGGCCTCGATGTTCTCCCGCA 0.637000 17 23 3.45872e-05 4.05505e-05 0.004007 1 0 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:178098810C>G ENST00000397062.3 - 2 789 c.235G>C c.(235-237)Gag>Cag p.E79Q NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E79K(10)|p.E79Q(10) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 20 43 0 0 0.001882 0 0 ADAM28 10863 broad.mit.edu 37 8 24184140 24184140 + Missense_Mutation SNP G G A rs139736903 byFrequency TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr8:24184140G>A ENST00000265769.4 + 10 1074 c.964G>A c.(964-966)Gtt>Att p.V322I ADAM28_ENST00000397649.3_Missense_Mutation_p.V69I|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.V322I|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.V89I|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 322 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TTCTGTTGGCGTTGTTCAGGT 0.338000 4 118 0 0 0.000602 0 0 AKAP14 158798 broad.mit.edu 37 X 119054501 119054501 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:119054501G>T ENST00000371431.3 + 7 799 c.525G>T c.(523-525)tgG>tgT p.W175C AKAP14_ENST00000371425.4_Missense_Mutation_p.W115C|AKAP14_ENST00000334356.2_Missense_Mutation_p.W115C|AKAP14_ENST00000491105.1_3'UTR|AKAP14_ENST00000371423.2_Missense_Mutation_p.W116C NM_178813.5 NP_848928.1 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 175 cytoplasm endometrium(4)|large_intestine(1)|lung(8) 13 GAGAAAACTGGCAGAAGAATC 0.338000 19 39 1.15919e-05 1.38776e-05 0.008871 1 0 BEST3 144453 broad.mit.edu 37 12 70048856 70048856 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:70048856G>C ENST00000330891.5 - 10 2064 c.1838C>G c.(1837-1839)tCt>tGt p.S613C BEST3_ENST00000488961.1_Missense_Mutation_p.S400C|BEST3_ENST00000553096.1_Missense_Mutation_p.S507C|BEST3_ENST00000331471.4_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 613 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AGCTGGCTGAGAGCTCATGGG 0.488000 18 32 0 0 0.004990 0 0 CFHR4 10877 broad.mit.edu 37 1 196874379 196874379 + Missense_Mutation SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:196874379C>A ENST00000367416.2 + 3 532 c.395C>A c.(394-396)aCa>aAa p.T132K CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GGATCAATTACATGTTTGCAA 0.328000 5 94 3.59834e-05 4.16134e-05 0.001168 1 0 ATRN 8455 broad.mit.edu 37 20 3575209 3575209 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:3575209G>A ENST00000262919.5 + 20 3474 c.3406G>A c.(3406-3408)Gag>Aag p.E1136K ATRN_ENST00000446916.2_Missense_Mutation_p.E1136K NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1136 Laminin EGF-like 2. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 CAAGGGGGACGAGTGCCAGCT 0.597000 14 57 0 0 0.002450 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85164140 85164140 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr15:85164140C>T ENST00000448803.2 + 3 1006 c.714C>T c.(712-714)atC>atT p.I238I ZSCAN2_ENST00000546148.1_Silent_p.I238I|ZSCAN2_ENST00000327179.6_Silent_p.I237I|ZSCAN2_ENST00000358472.3_Silent_p.I88I|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron NM_181877.3 NP_870992.2 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 238 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I238I(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) CCCACCTCATCACACACGAGA 0.493000 10 74 0 0 0.008291 0 0 DENND2D 79961 broad.mit.edu 37 1 111730992 111730992 + Splice_Site SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:111730992G>C ENST00000357640.4 - 11 1329 c.1099_splice c.e11-1 p.T367_splice DENND2D_ENST00000369752.5_Splice_Site_p.T364_splice NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 367 breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) TTGTTCTGCAGCTGCAGGAGA 0.483000 20 44 0 0 0.008871 0 0 CHIC1 53344 broad.mit.edu 37 X 72797282 72797282 + Silent SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:72797282C>G ENST00000373504.6 + 2 421 c.336C>G c.(334-336)tcC>tcG p.S112S CHIC1_ENST00000373502.5_Silent_p.S112S Q5VXU3 CHIC1_HUMAN cysteine-rich hydrophobic domain 1 112 cytoplasmic membrane-bounded vesicle|plasma membrane endometrium(1)|large_intestine(1)|lung(2) 4 Renal(35;0.156) AATTTCCCTCCGTTCTAACAG 0.343000 18 138 0 0 0.008871 0 0 LCN1 3933 broad.mit.edu 37 9 138415134 138415134 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr9:138415134G>A ENST00000263598.2 + 3 338 c.278G>A c.(277-279)gGa>gAa p.G93E LCN1_ENST00000371781.3_Missense_Mutation_p.G93E NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 93 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) GACGAGCCGGGAAAATACACG 0.632000 5 45 0 0 0.001168 0 0 DAXX 1616 broad.mit.edu 37 6 33289647 33289647 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:33289647G>A ENST00000374542.5 - 2 260 c.56C>T c.(55-57)gCt>gTt p.A19V DAXX_ENST00000266000.6_Missense_Mutation_p.A19V|DAXX_ENST00000414083.2_Intron NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 19 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 TGGCTGAGCAGCTGCTTCATC 0.602000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 4 137 0 0 0.000248 0 0 OR2A2 442361 broad.mit.edu 37 7 143806750 143806750 + Silent SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:143806750C>G ENST00000408979.2 + 1 144 c.75C>G c.(73-75)ctC>ctG p.L25L NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TGGCGATTCTCCTCTGTGGAC 0.517000 8 168 0 0 0.004482 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137416 40137416 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:40137416C>T ENST00000278198.2 - 2 2390 c.427G>A c.(427-429)Gct>Act p.A143T LRRC4C_ENST00000527150.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A143T Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 143 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TATACAAAAGCTCCATTCGGG 0.438000 23 53 0 0 0.002299 0 0 JPH4 84502 broad.mit.edu 37 14 24040391 24040391 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr14:24040391C>G ENST00000397118.3 - 6 2451 c.1549G>C c.(1549-1551)Gag>Cag p.E517Q JPH4_ENST00000544177.1_Missense_Mutation_p.E182Q|JPH4_ENST00000356300.4_Missense_Mutation_p.E517Q NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 517 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) ATCCCAGCCTCATCCTCAGCC 0.647000 18 164 0 0 0.006122 0 0 PRPS1 5631 broad.mit.edu 37 X 106888430 106888430 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:106888430T>C ENST00000372435.4 + 5 676 c.554T>C c.(553-555)cTg>cCg p.L185P PRPS1_ENST00000372428.4_Missense_Mutation_p.L118P|PRPS1_ENST00000543248.1_Missense_Mutation_p.L185P|PRPS1_ENST00000372418.1_Missense_Mutation_p.L85P NM_002764.3 NP_002755.1 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 185 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 GCAGACAGGCTGAATGTGGAC 0.502000 9 286 0 0 0.004482 0 0 PDAP1 11333 broad.mit.edu 37 7 99002548 99002548 + Silent SNP C C A rs139029496 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:99002548C>A ENST00000350498.3 - 2 322 c.42G>T c.(40-42)gcG>gcT p.A14A NM_014891.6 NP_055706.1 Q13442 HAP28_HUMAN PDGFA associated protein 1 14 cell proliferation|signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) TATACTGCCTCGCCCGGCCTT 0.632000 16 56 0.000422831 0.000476035 0.004007 1 0 KIR2DL1 3802 broad.mit.edu 37 19 55284979 55284979 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:55284979C>T ENST00000336077.6 + 3 305 c.265C>T c.(265-267)Cgc>Tgc p.R89C KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89C NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 89 Ig-like C2-type 1. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTCCATCAGTCGCATGACGCA 0.532000 5 265 0 0 0.001168 0 0 INSC 387755 broad.mit.edu 37 11 15222416 15222416 + Missense_Mutation SNP T T G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:15222416T>G ENST00000379554.3 + 7 927 c.881T>G c.(880-882)tTc>tGc p.F294C INSC_ENST00000525218.1_Intron|INSC_ENST00000528567.1_Missense_Mutation_p.F247C|INSC_ENST00000379556.3_Missense_Mutation_p.F247C|INSC_ENST00000424273.1_Intron|INSC_ENST00000530161.1_Missense_Mutation_p.F247C|INSC_ENST00000447214.2_Intron NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 294 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 CAGGACAGTTTCCGGTGCTTG 0.587000 3 45 0 0 0.004672 0 0 SERPINA9 327657 broad.mit.edu 37 14 94931144 94931144 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr14:94931144T>C ENST00000337425.5 - 4 1078 c.1004A>G c.(1003-1005)aAt>aGt p.N335S SERPINA9_ENST00000380365.3_Missense_Mutation_p.N317S|SERPINA9_ENST00000298845.7_Missense_Mutation_p.N235S|SERPINA9_ENST00000424550.2_Missense_Mutation_p.N186S|SERPINA9_ENST00000546329.1_Missense_Mutation_p.N299S|SERPINA9_ENST00000448305.2_Missense_Mutation_p.N237S NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 317 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity p.N335S(2) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GGTTTCCAGATTGTAGGAGGC 0.448000 24 45 0 0 0.003954 0 0 CBX2 84733 broad.mit.edu 37 17 77753183 77753183 + Nonsense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:77753183G>T ENST00000310942.4 + 3 243 c.139G>T c.(139-141)Gag>Tag p.E47* CBX2_ENST00000269399.5_Nonsense_Mutation_p.E47* NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 47 Chromo. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGAGCCGGAGGAGAACATCCT 0.632000 19 12 8.00594e-06 9.65255e-06 0.007413 1 0 PSAP 5660 broad.mit.edu 37 10 73590951 73590951 + Missense_Mutation SNP A A C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr10:73590951A>C ENST00000394936.3 - 4 454 c.307T>G c.(307-309)Tct>Gct p.S103A PSAP_ENST00000394934.1_Missense_Mutation_p.S103A P07602 SAP_HUMAN prosaposin 103 Saposin B-type 1. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 CATGAAGCAGACATGTTCGGT 0.483000 30 62 0 0 0.006320 0 0 NLRP13 126204 broad.mit.edu 37 19 56424476 56424476 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:56424476C>T ENST00000588751.1 - 5 731 c.707G>A c.(706-708)aGg>aAg p.R236K NLRP13_ENST00000342929.3_Missense_Mutation_p.R236K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 236 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AACCCCTGCCCTCCCCACCAA 0.507000 4 130 0 0 0.000248 0 0 SYDE2 84144 broad.mit.edu 37 1 85666170 85666170 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:85666170G>A ENST00000341460.5 - 1 559 c.510C>T c.(508-510)ggC>ggT p.G170G NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 170 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) GGTCTCCTTTGCCACTGCGTA 0.642000 31 51 0 0 0.007291 0 0 MUC6 4588 broad.mit.edu 37 11 1026050 1026050 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:1026050C>G ENST00000421673.2 - 21 2688 c.2638G>C c.(2638-2640)Gac>Cac p.D880H NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 880 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGCTGGCCGTCGAAGGTGATG 0.677000 3 7 0 0 0.000248 0 0 FLG 2312 broad.mit.edu 37 1 152285104 152285104 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:152285104T>A ENST00000368799.1 - 3 2293 c.2258A>T c.(2257-2259)cAt>cTt p.H753L FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 753 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) GTCTTCTGAATGTCCCTCACT 0.582000 Ichthyosis 15 785 0 0 0.002450 0 0 SLC39A8 64116 broad.mit.edu 37 4 103226195 103226195 + Missense_Mutation SNP A A T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr4:103226195A>T ENST00000424970.2 - 5 941 c.626T>A c.(625-627)cTt>cAt p.L209H SLC39A8_ENST00000394833.2_Missense_Mutation_p.L209H|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L209H|SLC39A8_ENST00000510255.1_5'UTR NM_001135147.1 NP_001128619.1 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), member 8 209 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) AAAAAAGAAAAGTAGGTAAAA 0.348000 6 32 0 0 0.001168 0 0 RALGAPB 57148 broad.mit.edu 37 20 37202933 37202933 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:37202933G>A ENST00000262879.6 + 29 4567 c.4283G>A c.(4282-4284)cGa>cAa p.R1428Q RALGAPB_ENST00000397042.3_Missense_Mutation_p.R1425Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R1207Q|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R1428Q Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1428 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GTCAGCAGGCGAGCTCTTGGT 0.358000 9 154 0 0 0.006214 0 0 OSBPL2 9885 broad.mit.edu 37 20 60835171 60835171 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:60835171C>G ENST00000313733.3 + 3 374 c.172C>G c.(172-174)Cag>Gag p.Q58E OSBPL2_ENST00000358053.2_Missense_Mutation_p.Q46E|OSBPL2_ENST00000439951.2_Intron NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 58 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GAACGGAATTCAGAAACACAG 0.453000 18 58 0 0 0.006122 0 0 ASXL1 171023 broad.mit.edu 37 20 31023531 31023531 + Nonsense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:31023531G>T ENST00000375687.4 + 13 3440 c.3016G>T c.(3016-3018)Gaa>Taa p.E1006* ASXL1_ENST00000306058.5_Nonsense_Mutation_p.E1001* NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1006 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CTCTGACTTTGAAGGTCACCT 0.502000 """F, N, Mis""" """MDS, CMML""" 32 53 8.16721e-17 1.02846e-16 0.002096 1 0 TYW1B 441250 broad.mit.edu 37 7 72209576 72209576 + RNA SNP C C G rs147711959 by1000genomes TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:72209576C>G ENST00000438125.1 - 0 579 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTCGGAGCATCGACTATGACA 0.413000 3 61 0 0 0.004672 0 0 EPAS1 2034 broad.mit.edu 37 2 46605175 46605175 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:46605175C>T ENST00000263734.3 + 10 1902 c.1392C>T c.(1390-1392)gcC>gcT p.A464A NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 464 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) AGGCAGCTGCCCCGGGCAGCA 0.682000 3 11 0 0 0.004672 0 0 ADCY1 107 broad.mit.edu 37 7 45725669 45725669 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:45725669C>T ENST00000297323.7 + 13 2204 c.2182C>T c.(2182-2184)Cac>Tac p.H728Y NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 728 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CGAGTCTACACACCATGCCCT 0.637000 16 61 0 0 0.004007 0 0 KDM6A 7403 broad.mit.edu 37 X 44949094 44949094 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:44949094T>A ENST00000377967.4 + 25 3696 c.3655T>A c.(3655-3657)Tgg>Agg p.W1219R KDM6A_ENST00000382899.4_Missense_Mutation_p.W1226R|KDM6A_ENST00000536777.1_Missense_Mutation_p.W1174R|KDM6A_ENST00000543216.1_Missense_Mutation_p.W1140R NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1219 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 AGATTTGGTCTGGATAAATGC 0.408000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 7 34 0 0 0.001984 0 0 UGT2B15 7366 broad.mit.edu 37 4 69513062 69513062 + Silent SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr4:69513062A>G ENST00000338206.5 - 6 1362 c.1353T>C c.(1351-1353)caT>caC p.H451H NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 451 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity TTGGTTGGTCATGATGAATTC 0.388000 21 103 0 0 0.001523 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837210 12837210 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:12837210C>G ENST00000357726.4 + 3 947 c.920C>G c.(919-921)tCg>tGg p.S307W NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 307 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGTCAGAGTCGGACCTGAAG 0.557000 45 127 0 0 0.002222 0 0 SLC17A9 63910 broad.mit.edu 37 20 61594660 61594660 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr20:61594660C>T ENST00000370349.3 + 7 850 c.646C>T c.(646-648)Cgg>Tgg p.R216W SLC17A9_ENST00000370351.4_Missense_Mutation_p.R222W|SLC17A9_ENST00000488738.1_3'UTR Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 222 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 GGCCCAAAGCCGGCCGGTGTC 0.637000 19 42 0 0 0.001882 0 0 ARSJ 79642 broad.mit.edu 37 4 114823767 114823767 + Nonsense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr4:114823767G>C ENST00000315366.7 - 2 2329 c.1463C>G c.(1462-1464)tCa>tGa p.S488* ARSJ_ENST00000541197.1_Nonsense_Mutation_p.S488* NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 488 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TTTGCCAGTTGACAAGGTGAT 0.512000 33 61 0 0 0.002096 0 0 TNC 3371 broad.mit.edu 37 9 117808854 117808854 + Missense_Mutation SNP T T G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr9:117808854T>G ENST00000350763.4 - 17 5371 c.4960A>C c.(4960-4962)Atc>Ctc p.I1654L TNC_ENST00000542877.1_Missense_Mutation_p.I1291L|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Missense_Mutation_p.I1199L|TNC_ENST00000346706.3_Missense_Mutation_p.I1108L|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1472L|TNC_ENST00000423613.2_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.I1290L NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1654 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GTATCTCTGATTTTGAGAACA 0.493000 43 135 0 0 0.006999 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032187 26032187 + Silent SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr6:26032187G>T ENST00000244661.2 - 1 101 c.102C>A c.(100-102)ggC>ggA p.G34G NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 34 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 TTTTCACGCCGCCGGTAGCCG 0.627000 16 138 4.7546e-09 5.87333e-09 0.004007 1 0 TUBGCP6 85378 broad.mit.edu 37 22 50671941 50671941 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr22:50671941C>T ENST00000439308.2 - 3 1412 c.920G>A c.(919-921)aGa>aAa p.R307K TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R307K NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 307 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGGCTCCTCTCTGTGGCCAGG 0.637000 3 12 0 0 0.004672 0 0 AADACL4 343066 broad.mit.edu 37 1 12726525 12726525 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:12726525C>G ENST00000376221.1 + 4 1003 c.1003C>G c.(1003-1005)Cag>Gag p.Q335E NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 335 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GGTCATCGCTCAGCTTCCTGA 0.517000 10 106 0 0 0.006214 0 0 IQGAP3 128239 broad.mit.edu 37 1 156532415 156532415 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:156532415G>C ENST00000361170.2 - 9 851 c.841C>G c.(841-843)Cag>Gag p.Q281E NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 281 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity p.Q281K(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATTTCAGCCTGAGTTAGGTAG 0.507000 49 135 0 0 0.003610 0 0 TTC25 83538 broad.mit.edu 37 17 40093075 40093075 + RNA SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:40093075G>A ENST00000591658.1 + 0 588 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) CACCAAGGGAGAGCCCAAGTG 0.522000 26 68 0 0 0.003330 0 0 PAQR8 85315 broad.mit.edu 37 6 52268776 52268776 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr6:52268776C>T ENST00000442253.2 + 2 939 c.765C>T c.(763-765)ttC>ttT p.F255F PAQR8_ENST00000360726.3_Silent_p.F255F NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 255 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) TCCTCTTCTTCCTGGTTAGCG 0.577000 23 52 0 0 0.003954 0 0 GRM7 2917 broad.mit.edu 37 3 6903352 6903352 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr3:6903352C>T ENST00000486284.1 + 1 551 c.277C>T c.(277-279)Ccc>Tcc p.P93S GRM7_ENST00000403881.1_Missense_Mutation_p.P93S|GRM7_ENST00000357716.4_Missense_Mutation_p.P93S|GRM7_ENST00000402647.2_Missense_Mutation_p.P93S|GRM7_ENST00000389336.4_Missense_Mutation_p.P93S NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 93 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CAACAGTGATCCCAACCTACT 0.607000 11 7 0 0 0.008291 0 0 MARS2 92935 broad.mit.edu 37 2 198571572 198571572 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr2:198571572G>A ENST00000282276.6 + 1 1486 c.1443G>A c.(1441-1443)cgG>cgA p.R481R AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 481 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) GCTGTGTCCGGCAAACTAATG 0.542000 4 136 0 0 0.000248 0 0 JARID2 3720 broad.mit.edu 37 6 15501599 15501599 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr6:15501599G>A ENST00000341776.2 + 8 2651 c.2407G>A c.(2407-2409)Gac>Aac p.D803N JARID2_ENST00000541660.1_Missense_Mutation_p.D765N|JARID2_ENST00000397311.3_Missense_Mutation_p.D631N|JARID2_ENST00000474854.1_3'UTR NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 803 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGAGGAGGAGGACAAAGGCGT 0.587000 5 27 0 0 0.001168 0 0 KIF5A 3798 broad.mit.edu 37 12 57975223 57975223 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr12:57975223C>T ENST00000455537.2 + 25 3055 c.2781C>T c.(2779-2781)taC>taT p.Y927Y KIF5A_ENST00000286452.5_Silent_p.Y838Y NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 927 Globular. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CTGGCCACTACCCAGCATCCT 0.547000 9 72 0 0 0.004482 0 0 INPP4A 3631 broad.mit.edu 37 2 99156130 99156130 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr2:99156130T>A ENST00000074304.5 + 10 1203 c.810T>A c.(808-810)gaT>gaA p.D270E INPP4A_ENST00000409540.3_Missense_Mutation_p.D270E|INPP4A_ENST00000545415.1_Missense_Mutation_p.D270E|INPP4A_ENST00000523221.1_Missense_Mutation_p.D270E|INPP4A_ENST00000409851.3_Missense_Mutation_p.D270E|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Missense_Mutation_p.D270E NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 270 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 TAGAGGAAGATGCAGCCAGGT 0.562000 3 46 0 0 0.004672 0 0 HSD17B3 3293 broad.mit.edu 37 9 99003167 99003167 + Missense_Mutation SNP G G A rs28939085 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr9:99003167G>A ENST00000375263.3 - 10 742 c.695C>T c.(694-696)tCg>tTg p.S232L HSD17B3_ENST00000375262.2_Intron|HSD17B3_ENST00000464104.1_5'UTR NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 232 S -> L (in MPH; dbSNP:rs28939085). androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) CATTGCAGTCGAGACAGCATA 0.433000 13 50 0 0 0.001855 0 0 PLCH1 23007 broad.mit.edu 37 3 155200527 155200527 + Silent SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr3:155200527A>G ENST00000460012.1 - 23 3555 c.3198T>C c.(3196-3198)ggT>ggC p.G1066G PLCH1_ENST00000414191.1_Silent_p.G1066G|PLCH1_ENST00000334686.6_Silent_p.G1066G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Silent_p.G1104G|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1104 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGATTTTCACACCATGCAGAT 0.473000 49 170 0 0 0.003610 0 0 PTPRN 5798 broad.mit.edu 37 2 220161748 220161748 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr2:220161748T>C ENST00000295718.2 - 15 2435 c.2195A>G c.(2194-2196)gAg>gGg p.E732G PTPRN_ENST00000423636.2_Missense_Mutation_p.E642G|PTPRN_ENST00000409251.3_Missense_Mutation_p.E703G NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 732 Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GATGTTGCCCTCCCCCTGCGC 0.637000 3 117 0 0 0.000248 0 0 COMTD1 118881 broad.mit.edu 37 10 76993922 76993922 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr10:76993922C>T ENST00000372538.3 - 7 780 c.698G>A c.(697-699)cGa>cAa p.R233Q COMTD1_ENST00000460899.1_5'UTR NM_144589.2 NP_653190.2 Q86VU5 CMTD1_HUMAN catechol-O-methyltransferase domain containing 1 233 integral to membrane O-methyltransferase activity central_nervous_system(1)|large_intestine(1)|lung(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) GTTTAGGTTTCGCACACACTC 0.682000 23 58 0 0 0.002780 0 0 DSG4 147409 broad.mit.edu 37 18 28968849 28968849 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr18:28968849G>A ENST00000359747.4 + 5 414 c.385G>A c.(385-387)Gct>Act p.A129T RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.A129T NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 129 Cadherin 1. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTATTGCCGGGCTCTGAATTC 0.368000 32 71 0 0 0.005524 0 0 USP19 10869 broad.mit.edu 37 3 49148936 49148936 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr3:49148936C>T ENST00000453664.1 - 21 3496 c.3178G>A c.(3178-3180)Gaa>Aaa p.E1060K USP19_ENST00000434032.2_Missense_Mutation_p.E1070K|USP19_ENST00000417901.1_Missense_Mutation_p.E1072K|USP19_ENST00000398888.2_Missense_Mutation_p.E969K|USP19_ENST00000398892.3_Missense_Mutation_p.E1009K|USP19_ENST00000398896.1_Missense_Mutation_p.E777K|USP19_ENST00000398898.2_Missense_Mutation_p.E1009K NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 969 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATCTTACCTTCGGGTCGGGAC 0.607000 17 17 0 0 0.006122 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 65 0 0 0.001984 0 0 NSMCE1 197370 broad.mit.edu 37 16 27237111 27237111 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr16:27237111G>A ENST00000361439.4 - 7 756 c.657C>T c.(655-657)taC>taT p.Y219Y NSMCE1_ENST00000565384.1_5'UTR NM_145080.3 NP_659547.2 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog (S. cerevisiae) 219 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding endometrium(2)|large_intestine(2)|lung(3) 7 TCGACTGGAAGTACTTGGCCA 0.612000 20 48 0 0 0.008871 0 0 ZNF574 64763 broad.mit.edu 37 19 42584413 42584413 + Missense_Mutation SNP G G A rs147085110 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:42584413G>A ENST00000600245.1 + 2 2310 c.1655G>A c.(1654-1656)cGg>cAg p.R552Q ZNF574_ENST00000359044.4_Missense_Mutation_p.R552Q|ZNF574_ENST00000222339.7_Missense_Mutation_p.R642Q Q6ZN55 ZN574_HUMAN zinc finger protein 574 552 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CGGCCCTACCGGTGTGGGGAC 0.657000 51 87 0 0 0.003610 0 0 ZNF845 91664 broad.mit.edu 37 19 53855637 53855637 + Missense_Mutation SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:53855637A>G ENST00000458035.1 + 4 1826 c.1709A>G c.(1708-1710)cAa>cGa p.Q570R ZNF845_ENST00000595091.1_Missense_Mutation_p.Q570R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ATTTACCATCAAGCAATCCAT 0.398000 4 41 0 0 0.000248 0 0 CCDC120 90060 broad.mit.edu 37 X 48921913 48921913 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:48921913G>A ENST00000376396.3 + 6 556 c.337G>A c.(337-339)Gag>Aag p.E113K CCDC120_ENST00000603986.1_Missense_Mutation_p.E148K|CCDC120_ENST00000536628.2_Missense_Mutation_p.E101K|CCDC120_ENST00000597275.1_Missense_Mutation_p.E113K|CCDC120_ENST00000496529.2_Missense_Mutation_p.E113K|CCDC120_ENST00000422185.2_Missense_Mutation_p.E113K NM_001271835.1|NM_001271836.1|NM_033626.2 NP_001258764.1|NP_001258765.1|NP_296375.1 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 113 protein binding breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 GCTGGCTCTTGAGGCCCTGGA 0.677000 4 1 0 0 0.000248 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76572217 76572217 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr16:76572217C>G ENST00000307431.8 + 20 3582 c.3197C>G c.(3196-3198)tCt>tGt p.S1066C CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S994C|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S1070C|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1018C|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1067 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GAATACCTTTCTGTGATCATT 0.358000 17 125 0 0 0.004007 0 0 EID2 163126 broad.mit.edu 37 19 40030624 40030624 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:40030624C>T ENST00000390658.2 - 1 246 c.96G>A c.(94-96)cgG>cgA p.R32R NM_153232.3 NP_694964.3 Q8N6I1 EID2_HUMAN EP300 interacting inhibitor of differentiation 2 32 cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly nucleus SMAD binding large_intestine(2)|lung(1)|urinary_tract(1) 4 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) GGGCCGGCTCCCGCCTCCCGC 0.751000 15 23 0 0 0.002450 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734834 12734834 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:12734834C>T ENST00000380682.1 + 15 2762 c.2256C>T c.(2254-2256)gaC>gaT p.D752D NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 752 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 AGGACGAGGACGAGGTGAGCT 0.582000 6 142 0 0 0.001984 0 0 MYH7B 57644 broad.mit.edu 37 20 33589835 33589835 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr20:33589835G>A ENST00000262873.7 + 42 5979 c.5887G>A c.(5887-5889)Gaa>Aaa p.E1963K NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1921 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGACATGGCGGAAACCCAGGC 0.672000 14 62 0 0 0.001855 0 0 TP53 7157 broad.mit.edu 37 17 7578478 7578478 + Missense_Mutation SNP G G T rs137852790 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:7578478G>T ENST00000420246.2 - 5 584 c.452C>A c.(451-453)cCc>cAc p.P151H TP53_ENST00000413465.2_Missense_Mutation_p.P151H|TP53_ENST00000269305.4_Missense_Mutation_p.P151H|TP53_ENST00000445888.2_Missense_Mutation_p.P151H|TP53_ENST00000455263.2_Missense_Mutation_p.P151H|TP53_ENST00000359597.4_Missense_Mutation_p.P151H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 151 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (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.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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) GCCGGGCGGGGGTGTGGAATC 0.607000 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) 39 24 4.07013e-28 5.10285e-28 0.008740 1 0 TRPM1 4308 broad.mit.edu 37 15 31294599 31294599 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr15:31294599T>C ENST00000542188.1 - 27 4668 c.4355A>G c.(4354-4356)tAt>tGt p.Y1452C RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.Y1435C|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1413C NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1413 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTCCAGGGGATAGGAAATAGT 0.393000 37 74 0 0 0.003271 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20885884 20885884 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr12:20885884G>T ENST00000381552.1 + 10 1596 c.1228G>T c.(1228-1230)Ggg>Tgg p.G410W SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G410W|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G361W|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G292W|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G410W Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 410 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AATATTCTCTGGGGGGATAGT 0.383000 16 74 3.52763e-06 4.26361e-06 0.004990 1 0 APBA1 320 broad.mit.edu 37 9 72082878 72082878 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr9:72082878C>T ENST00000265381.4 - 5 1565 c.1343G>A c.(1342-1344)gGa>gAa p.G448E NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 448 Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GTCGCAGGGTCCCGGAACTGT 0.557000 65 154 0 0 0.003610 0 0 CCDC88A 55704 broad.mit.edu 37 2 55528370 55528370 + Missense_Mutation SNP A A T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr2:55528370A>T ENST00000436346.1 - 28 5557 c.4716T>A c.(4714-4716)gaT>gaA p.D1572E CCDC88A_ENST00000413716.2_Missense_Mutation_p.D1571E|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D1571E|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D1544E|CCDC88A_ENST00000422883.2_Missense_Mutation_p.D100E NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1572 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TACTAGAATCATCACTAACAC 0.308000 7 24 0 0 0.004482 0 0 MMP2 4313 broad.mit.edu 37 16 55539340 55539340 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr16:55539340T>C ENST00000219070.4 + 13 2478 c.1969T>C c.(1969-1971)Tgg>Cgg p.W657R MMP2_ENST00000570308.1_Missense_Mutation_p.W581R|MMP2_ENST00000543485.1_Missense_Mutation_p.W581R|MMP2_ENST00000437642.2_Missense_Mutation_p.W607R NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 657 Hemopexin-like 4.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CAAATCCGACTGGCTAGGCTG 0.567000 8 175 0 0 0.004482 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27824450 27824450 + Silent SNP T T G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr12:27824450T>G ENST00000318304.8 + 14 1567 c.1284T>G c.(1282-1284)acT>acG p.T428T PPFIBP1_ENST00000228425.6_Silent_p.T411T|PPFIBP1_ENST00000542629.1_Silent_p.T397T|PPFIBP1_ENST00000537927.1_Silent_p.T275T NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 428 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) CAAAGTTGACTCCTAAGCCAG 0.343000 7 71 0 0 0.004482 0 0 RANGAP1 5905 broad.mit.edu 37 22 41652800 41652800 + Missense_Mutation SNP A A C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr22:41652800A>C ENST00000455915.2 - 7 2272 c.803T>G c.(802-804)gTg>gGg p.V268G RANGAP1_ENST00000407260.4_Missense_Mutation_p.V213G|RANGAP1_ENST00000405486.1_Missense_Mutation_p.V268G|RANGAP1_ENST00000356244.3_Missense_Mutation_p.V268G P46060 RAGP1_HUMAN Ran GTPase activating protein 1 268 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity p.V268G(3) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AAAATTAATCACCTCCACCTG 0.637000 6 11 0 0 0.001855 0 0 CLCN5 1184 broad.mit.edu 37 X 49854987 49854987 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:49854987G>A ENST00000376088.3 + 13 2600 c.1959G>A c.(1957-1959)atG>atA p.M653I CLCN5_ENST00000376108.3_Missense_Mutation_p.M583I|CLCN5_ENST00000307367.2_Missense_Mutation_p.M583I|CLCN5_ENST00000376091.3_Missense_Mutation_p.M653I NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 583 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) CCCTGGCAATGGATGTGATGA 0.468000 4 65 0 0 0.000248 0 0 KCNA4 3739 broad.mit.edu 37 11 30033979 30033979 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr11:30033979G>C ENST00000328224.6 - 2 1480 c.247C>G c.(247-249)Cgg>Ggg p.R83G NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 83 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CTCCTCCTCCGACTACCCCGG 0.632000 4 81 0 0 0.000248 0 0 GIP 2695 broad.mit.edu 37 17 47041687 47041687 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:47041687T>C ENST00000357424.2 - 3 342 c.242A>G c.(241-243)aAg>aGg p.K81R NM_004123.2 NP_004114.1 P09681 GIP_HUMAN gastric inhibitory polypeptide 81 energy reserve metabolic process|signal transduction extracellular region|soluble fraction hormone activity lung(2)|skin(1)|stomach(1) 4 CTTCTTCCCCTTTTGGGCCAG 0.562000 3 119 0 0 0.004672 0 0 MYH8 4626 broad.mit.edu 37 17 10298660 10298660 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:10298660C>G ENST00000403437.2 - 34 4846 c.4752G>C c.(4750-4752)gaG>gaC p.E1584D CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1584 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 GGTCAATTTCCTCATCCTTTT 0.433000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 10 58 0 0 0.006214 0 0 MAP3K4 4216 broad.mit.edu 37 6 161470492 161470492 + Missense_Mutation SNP G G C rs111941258 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr6:161470492G>C ENST00000392142.4 + 3 1336 c.1188G>C c.(1186-1188)tgG>tgC p.W396C MAP3K4_ENST00000366920.2_Missense_Mutation_p.W396C|MAP3K4_ENST00000348824.7_Missense_Mutation_p.W396C|MAP3K4_ENST00000366919.2_Missense_Mutation_p.W396C NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 396 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TCTGTTTGTGGTTAAACATCA 0.403000 10 54 0 0 0.006214 0 0 ADCY5 111 broad.mit.edu 37 3 123167254 123167254 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr3:123167254C>G ENST00000462833.1 - 1 1351 c.139G>C c.(139-141)Ggg>Cgg p.G47R NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 47 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) GCAGAGCCCCCGGGGGCATGG 0.766000 5 7 0 0 0.000602 0 0 ATRN 8455 broad.mit.edu 37 20 3605205 3605205 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr20:3605205C>T ENST00000262919.5 + 25 3917 c.3849C>T c.(3847-3849)ttC>ttT p.F1283F NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1283 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 TACAGTTCTTCGTGACTTTCT 0.388000 34 197 0 0 0.003271 0 0 DCX 1641 broad.mit.edu 37 X 110644290 110644290 + Silent SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:110644290G>C ENST00000338081.3 - 3 1047 c.876C>G c.(874-876)ctC>ctG p.L292L DCX_ENST00000356915.2_Silent_p.L211L|DCX_ENST00000371993.2_Silent_p.L211L|DCX_ENST00000356220.3_Silent_p.L211L|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Silent_p.L211L NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 292 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TGATATCAGTGAGGACTTGCT 0.493000 62 100 0 0 0.003610 0 0 RNF213 57674 broad.mit.edu 37 17 78348328 78348328 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:78348328G>A ENST00000582970.1 + 50 13156 c.13013G>A c.(13012-13014)cGt>cAt p.R4338H CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H 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) AAGGCTCTCCGTGATGCTGTG 0.577000 41 28 0 0 0.006999 0 0 NOB1 28987 broad.mit.edu 37 16 69782153 69782153 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr16:69782153C>T ENST00000268802.5 - 7 835 c.806G>A c.(805-807)cGc>cAc p.R269H NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 269 nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GCCATGGCAGCGCAAGATGTA 0.522000 5 41 0 0 0.001984 0 0 TBX21 30009 broad.mit.edu 37 17 45820480 45820480 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:45820480G>A ENST00000177694.1 + 3 901 c.690G>A c.(688-690)gcG>gcA p.A230A NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 230 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 ACACAGGAGCGCACTGGATGC 0.552000 34 56 0 0 0.002445 0 0 WNK1 65125 broad.mit.edu 37 12 978050 978050 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr12:978050C>T ENST00000537687.1 + 9 3801 c.3158C>T c.(3157-3159)tCc>tTc p.S1053F WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.S1138F|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.S352F NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 808 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCCAGTGATTCCTCACAAATC 0.488000 6 244 0 0 0.001168 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498721 73498721 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:73498721C>T ENST00000321617.3 - 18 3020 c.2434G>A c.(2434-2436)Gag>Aag p.E812K CASKIN2_ENST00000433559.2_Missense_Mutation_p.E730K NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 812 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCTCCCCCTCAGCATCCCCC 0.692000 10 3 0 0 0.001368 0 0 MIOS 54468 broad.mit.edu 37 7 7613368 7613368 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr7:7613368C>T ENST00000340080.4 + 4 1683 c.1262C>T c.(1261-1263)cCa>cTa p.P421L MIOS_ENST00000405785.1_Missense_Mutation_p.P421L NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 421 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AATGAAGATCCACAGCTCAAG 0.408000 19 81 0 0 0.008871 0 0 CD28 940 broad.mit.edu 37 2 204594418 204594418 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr2:204594418T>C ENST00000374481.3 + 4 427 c.205T>C c.(205-207)Ttt>Ctt p.F69L CD28_ENST00000324106.7_Missense_Mutation_p.F153L|CD28_ENST00000458610.2_Missense_Mutation_p.F167L|CD28_ENST00000374478.4_Missense_Mutation_p.F34L P10747 CD28_HUMAN CD28 molecule 153 Ig-like V-type. cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 TTCTAAGCCCTTTTGGGTGCT 0.443000 3 129 0 0 0.004672 0 0 JPH3 57338 broad.mit.edu 37 16 87724057 87724057 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr16:87724057C>T ENST00000284262.2 + 4 2333 c.2091C>T c.(2089-2091)ttC>ttT p.F697F JPH3_ENST00000563609.1_3'UTR NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 697 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) ACTTGACCTTCTCCCCGCCCC 0.672000 8 6 0 0 0.004482 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136554958 136554958 + Missense_Mutation SNP A A T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr8:136554958A>T ENST00000355849.5 + 3 679 c.269A>T c.(268-270)gAa>gTa p.E90V KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 90 KH. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) TTACAAGAAGAAACCTTGACA 0.363000 6 63 0 0 0.001168 0 0 TUBD1 51174 broad.mit.edu 37 17 57958324 57958324 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:57958324C>T ENST00000325752.3 - 4 745 c.468G>A c.(466-468)caG>caA p.Q156Q TUBD1_ENST00000340993.6_Silent_p.Q156Q|TUBD1_ENST00000592426.1_Silent_p.Q156Q|TUBD1_ENST00000394239.3_Silent_p.Q156Q|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Silent_p.Q156Q NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 156 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) CTTCTAAATTCTGTGTAACGA 0.383000 21 93 0 0 0.001523 0 0 LDB3 11155 broad.mit.edu 37 10 88451696 88451696 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr10:88451696G>A ENST00000429277.2 + 7 1082 c.937G>A c.(937-939)Gtc>Atc p.V313I LDB3_ENST00000372056.4_Missense_Mutation_p.V313I|LDB3_ENST00000372066.3_Missense_Mutation_p.V198I|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000263066.6_Missense_Mutation_p.V198I|LDB3_ENST00000361373.4_Missense_Mutation_p.V245I|LDB3_ENST00000310944.6_Missense_Mutation_p.V245I|LDB3_ENST00000458213.2_Missense_Mutation_p.V198I NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 302 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 CGCCTCTCCCGTCTACCAGGC 0.602000 6 107 0 0 0.001168 0 0 PHF19 26147 broad.mit.edu 37 9 123632758 123632758 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr9:123632758C>T ENST00000373896.3 - 4 579 c.327G>A c.(325-327)ccG>ccA p.P109P PHF19_ENST00000312189.6_Silent_p.P109P NM_015651.1 NP_056466.1 Q5T6S3 PHF19_HUMAN PHD finger protein 19 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCTCATTCAGCGGCCCTGATG 0.627000 24 183 0 0 0.003330 0 0 CUL4B 8450 broad.mit.edu 37 X 119666336 119666336 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:119666336C>G ENST00000371322.5 - 18 2441 c.2380G>C c.(2380-2382)Gat>Cat p.D794H CUL4B_ENST00000404115.3_Missense_Mutation_p.D812H|CUL4B_ENST00000336592.6_Missense_Mutation_p.D799H NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 812 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTGAAATCATCATTACAAATG 0.368000 15 45 0 0 0.002450 0 0 NOTCH3 4854 broad.mit.edu 37 19 15272483 15272483 + Nonsense_Mutation SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:15272483C>A ENST00000263388.2 - 33 6031 c.5956G>T c.(5956-5958)Gag>Tag p.E1986* NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1986 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TTGGCAGCCTCATAGCTGCCC 0.627000 3 13 0.004672 0.00519799 0.004672 1 0 WDFY3 23001 broad.mit.edu 37 4 85752750 85752750 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr4:85752750C>T ENST00000322366.6 - 8 992 c.585G>A c.(583-585)gtG>gtA p.V195V WDFY3_ENST00000295888.4_Silent_p.V195V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 195 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TGCACAGTTTCactaagatct 0.388000 18 41 0 0 0.004990 0 0 GRIA3 2892 broad.mit.edu 37 X 122459926 122459926 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:122459926G>T ENST00000264357.5 + 4 850 c.558G>T c.(556-558)tgG>tgT p.W186C GRIA3_ENST00000371256.5_Missense_Mutation_p.W186C|GRIA3_ENST00000541091.1_Missense_Mutation_p.W170C|GRIA3_ENST00000542149.1_Missense_Mutation_p.W186C|GRIA3_ENST00000371251.1_Missense_Mutation_p.W186C NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 186 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) AAAACAACTGGCAAGTAACAG 0.418000 15 46 0.000308642 0.00035035 0.003163 1 0 SCAND3 114821 broad.mit.edu 37 6 28554410 28554410 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr6:28554410C>T ENST00000452236.2 - 1 702 c.85G>A c.(85-87)Gaa>Aaa p.E29K SCAND3_ENST00000530247.1_Intron NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 29 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TGGTCTTCTTCTTTAACCTTT 0.502000 18 45 0 0 0.006122 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414914 14414914 + RNA SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr21:14414914G>A ENST00000507941.1 + 0 95 CCTTGATGGCGAAAACAGGAC 0.428000 6 24 0 0 0.004482 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8436124 8436124 + Splice_Site SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:8436124G>A ENST00000301455.2 + 6 928 c.e6-1 ANGPTL4_ENST00000393962.2_Splice_Site|ANGPTL4_ENST00000541807.1_Splice_Site NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 TCCCACTCCAGGCGAGTTCTG 0.647000 17 39 0 0 0.004007 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687181 68687181 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr10:68687181G>A ENST00000361320.4 + 2 1085 c.507G>A c.(505-507)ctG>ctA p.L169L CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 169 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CTAACTCCCTGAGAACCATCC 0.488000 27 90 0 0 0.005443 0 0 ZNF626 199777 broad.mit.edu 37 19 20807482 20807482 + Nonsense_Mutation SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:20807482C>A ENST00000601440.1 - 4 1347 c.1201G>T c.(1201-1203)Gaa>Taa p.E401* CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TTGCCACATTCTTCACATTTG 0.398000 22 70 2.27731e-05 2.69428e-05 0.001882 1 0 TJP1 7082 broad.mit.edu 37 15 30011211 30011211 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr15:30011211G>A ENST00000346128.6 - 21 3609 c.3135C>T c.(3133-3135)taC>taT p.Y1045Y TJP1_ENST00000356107.6_Silent_p.Y1045Y|TJP1_ENST00000545208.2_Silent_p.Y965Y|TJP1_ENST00000400011.2_Silent_p.Y969Y NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1045 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GTTTCTCTACGTATGGGAGTT 0.502000 73 172 0 0 0.003610 0 0 PLXNA3 55558 broad.mit.edu 37 X 153698126 153698126 + Splice_Site SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:153698126C>T ENST00000369682.3 + 28 4969 c.4795_splice c.e28+1 p.Y1598_splice PLXNA3_ENST00000493546.1_3'UTR NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1598 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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) TCAGCCGCTACGGTAGGTGTC 0.582000 17 49 0 0 0.004990 0 0 TMEM145 284339 broad.mit.edu 37 19 42819348 42819348 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:42819348G>A ENST00000598766.1 + 7 586 c.586G>A c.(586-588)Gag>Aag p.E196K TMEM145_ENST00000301204.3_Missense_Mutation_p.E172K Q8NBT3 TM145_HUMAN transmembrane protein 145 172 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) AGGGATCCTGGAGACAGATGT 0.532000 18 40 0 0 0.004990 0 0 ADAM29 11086 broad.mit.edu 37 4 175897109 175897109 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr4:175897109T>A ENST00000359240.3 + 5 1103 c.433T>A c.(433-435)Ttt>Att p.F145I ADAM29_ENST00000404450.4_Missense_Mutation_p.F145I|ADAM29_ENST00000514159.1_Missense_Mutation_p.F145I|ADAM29_ENST00000445694.1_Missense_Mutation_p.F145I NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 145 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TTCTACCACGTTTGAACATCT 0.383000 16 44 0 0 0.003163 0 0 IL19 29949 broad.mit.edu 37 1 207010066 207010066 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:207010066T>C ENST00000270218.6 + 3 998 c.59T>C c.(58-60)gTa>gCa p.V20A IL19_ENST00000340758.2_Missense_Mutation_p.V58A NM_013371.3 NP_037503.2 Q9UHD0 IL19_HUMAN interleukin 19 20 apoptosis|immune response|signal transduction extracellular space cytokine activity central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(75;0.211) TTGTGCTCAGTAGACAACCAC 0.468000 4 223 0 0 0.000248 0 0 LAMA2 3908 broad.mit.edu 37 6 129724979 129724979 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr6:129724979G>T ENST00000421865.2 + 40 5789 c.5740G>T c.(5740-5742)Gct>Tct p.A1914S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1914 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCTTGATGAGGCTAAAAACAT 0.398000 12 26 2.31682e-05 2.72186e-05 0.003163 1 0 ATP2B4 493 broad.mit.edu 37 1 203678644 203678644 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:203678644G>C ENST00000357681.5 + 11 2896 c.1773G>C c.(1771-1773)aaG>aaC p.K591N ATP2B4_ENST00000367218.3_Missense_Mutation_p.K591N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.K579N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.K591N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.K591N NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 591 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TGTACAGCAAGGGCGCCTCTG 0.557000 7 74 0 0 0.006214 0 0 NLGN1 22871 broad.mit.edu 37 3 173997073 173997073 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr3:173997073G>C ENST00000457714.1 + 6 1711 c.1282G>C c.(1282-1284)Ggc>Cgc p.G428R NLGN1_ENST00000545397.1_Missense_Mutation_p.G428R|NLGN1_ENST00000361589.4_Missense_Mutation_p.G428R|NLGN1_ENST00000401917.3_Missense_Mutation_p.G468R|NLGN1_ENST00000466350.1_3'UTR NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 445 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATATCCTGAAGGCAAAGATGT 0.343000 6 90 0 0 0.001984 0 0 TMC8 147138 broad.mit.edu 37 17 76134756 76134756 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:76134756G>C ENST00000318430.5 + 14 2140 c.1766G>C c.(1765-1767)cGt>cCt p.R589P TMC8_ENST00000589691.1_Missense_Mutation_p.R366P|TMC8_ENST00000591144.1_3'UTR NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 589 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) ATTGGCCAGCGTGCCCTCCAC 0.667000 7 65 0 0 0.001984 0 0 ZNF202 7753 broad.mit.edu 37 11 123597653 123597653 + Silent SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr11:123597653C>G ENST00000336139.4 - 8 1361 c.999G>C c.(997-999)ctG>ctC p.L333L ZNF202_ENST00000529691.1_Silent_p.L333L|ZNF202_ENST00000530393.1_Silent_p.L333L O95125 ZN202_HUMAN zinc finger protein 202 333 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CCTCCAAACTCAGATCTTCCT 0.463000 9 226 0 0 0.004482 0 0 MBOAT7 79143 broad.mit.edu 37 19 54678113 54678113 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:54678113G>A ENST00000245615.1 - 8 1524 c.1044C>T c.(1042-1044)acC>acT p.T348T MBOAT7_ENST00000431666.2_Silent_p.T275T|MBOAT7_ENST00000338624.6_Silent_p.T275T NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 348 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCAGCAGCATGGTCCAGGCGC 0.687000 11 25 0 0 0.008291 0 0 PWWP2A 114825 broad.mit.edu 37 5 159520157 159520157 + Silent SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr5:159520157G>C ENST00000456329.3 - 2 1534 c.1500C>G c.(1498-1500)ggC>ggG p.G500G PWWP2A_ENST00000523662.1_Silent_p.G500G|PWWP2A_ENST00000307063.7_Silent_p.G500G NM_052927.2 NP_443159.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A 500 kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTGCCATCTTGCCACTCCGCA 0.537000 5 21 0 0 0.000602 0 0 BTBD11 121551 broad.mit.edu 37 12 108006645 108006645 + Splice_Site SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr12:108006645A>G ENST00000280758.5 + 6 2426 c.1899_splice c.e6+1 p.E633_splice BTBD11_ENST00000420571.2_Splice_Site_p.E633_splice|BTBD11_ENST00000490090.2_Splice_Site_p.E633_splice|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Splice_Site_p.E170_splice NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 633 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CTGAATGTGGAGGTGAGGGTG 0.632000 6 5 0 0 0.001984 0 0 BBX 56987 broad.mit.edu 37 3 107497345 107497345 + Nonsense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr3:107497345G>T ENST00000415149.2 + 13 2509 c.2182G>T c.(2182-2184)Gaa>Taa p.E728* BBX_ENST00000473542.1_3'UTR|BBX_ENST00000402543.1_Nonsense_Mutation_p.E728*|BBX_ENST00000406780.1_Nonsense_Mutation_p.E728*|BBX_ENST00000325805.8_Nonsense_Mutation_p.E728*|BBX_ENST00000416476.2_Missense_Mutation_p.Q391H NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 728 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) TGTGTCCTCAGAACCGACTAA 0.438000 5 71 3.59834e-05 4.14055e-05 0.001168 1 0 SLC22A12 116085 broad.mit.edu 37 11 64359366 64359366 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr11:64359366C>T ENST00000377574.1 + 1 1085 c.338C>T c.(337-339)aCg>aTg p.T113M SLC22A12_ENST00000336464.7_Missense_Mutation_p.T113M|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.T113M|SLC22A12_ENST00000377572.1_Missense_Mutation_p.T113M NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 113 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GAGGCCGACACGGAGCCGTGT 0.672000 18 27 0 0 0.008871 0 0 OR2L2 26246 broad.mit.edu 37 1 248201955 248201955 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:248201955T>C ENST00000366479.2 + 1 482 c.386T>C c.(385-387)cTc>cCc p.L129P OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) TGCTTTCCTCTCCACTATCCC 0.433000 6 179 0 0 0.001984 0 0 FAM184A 79632 broad.mit.edu 37 6 119341142 119341142 + Splice_Site SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr6:119341142C>T ENST00000338891.7 - 4 1776 c.e4+1 RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Splice_Site|FAM184A_ENST00000521531.1_Splice_Site|FAM184A_ENST00000368475.4_Splice_Site|FAM184A_ENST00000352896.5_Splice_Site NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTACTTTTTACCTTCTCCAGT 0.398000 7 60 0 0 0.001984 0 0 IRS4 8471 broad.mit.edu 37 X 107978579 107978579 + Silent SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:107978579A>G ENST00000372129.2 - 1 1072 c.996T>C c.(994-996)tgT>tgC p.C332C NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 332 IRS-type PTB. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 ATTCGTCTGCACACAAGGCTC 0.587000 100 199 0 0 0.003610 0 0 VPS33B 26276 broad.mit.edu 37 15 91544674 91544674 + Missense_Mutation SNP A A C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr15:91544674A>C ENST00000333371.3 - 19 1777 c.1424T>G c.(1423-1425)tTc>tGc p.F475C VPS33B_ENST00000535843.1_Missense_Mutation_p.F384C|VPS33B_ENST00000535906.1_Missense_Mutation_p.F448C NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 475 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) CAGAGAACTGAAGGCATCAGT 0.463000 7 65 0 0 0.001984 0 0 CCL23 6368 broad.mit.edu 37 17 34340342 34340342 + Silent SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:34340342G>T ENST00000293280.2 - 4 379 c.309C>A c.(307-309)ctC>ctA p.L103L CCL23_ENST00000591423.1_Silent_p.L86L NM_005064.3 NP_005055.2 P55773 CCL23_HUMAN chemokine (C-C motif) ligand 23 86 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding large_intestine(2)|liver(1)|lung(2)|prostate(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) CCTTCTTGGTGAGGAAGCTAG 0.542000 9 15 7.48243e-07 9.10904e-07 0.006214 1 0 ZNF208 7757 broad.mit.edu 37 19 22154781 22154781 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:22154781G>T ENST00000397126.4 - 4 3203 c.3055C>A c.(3055-3057)Cat>Aat p.H1019N ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ATTTTCTTATGTTCCATAAGG 0.408000 20 62 5.35267e-07 6.56385e-07 0.007413 1 0 KLHL4 56062 broad.mit.edu 37 X 86888820 86888820 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:86888820G>A ENST00000373119.4 + 8 1766 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K KLHL4_ENST00000373114.4_Missense_Mutation_p.E541K NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 541 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AAATACTGTAGAAAGATGGGA 0.413000 4 59 0 0 0.000248 0 0 LINGO4 339398 broad.mit.edu 37 1 151774300 151774300 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:151774300C>T ENST00000368820.3 - 2 1818 c.881G>A c.(880-882)cGa>cAa p.R294Q NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 294 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCTGAGCCTTCGGGCTGGGAT 0.622000 22 56 0 0 0.001882 0 0 PEF1 553115 broad.mit.edu 37 1 32098207 32098207 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:32098207C>T ENST00000373703.4 - 4 536 c.514G>A c.(514-516)Gat>Aat p.D172N NM_012392.3 NP_036524.1 Q9UBV8 PEF1_HUMAN penta-EF-hand domain containing 1 172 EF-hand 2. response to calcium ion cytoplasm|membrane calcium ion binding|protein heterodimerization activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186) STAD - Stomach adenocarcinoma(196;0.0546) CCGTAGACATCGATGCGGCCT 0.557000 14 32 0 0 0.002450 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408273 105408273 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr14:105408273G>T ENST00000333244.5 - 7 13634 c.13515C>A c.(13513-13515)gaC>gaA p.D4505E AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4505 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGTCTTGAGGTCCCCCTGCA 0.612000 7 264 8.12818e-05 9.28935e-05 0.001984 1 0 BRF2 55290 broad.mit.edu 37 8 37702008 37702008 + Nonstop_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr8:37702008T>C ENST00000220659.6 - 4 1380 c.1260A>G c.(1258-1260)tgA>tgG p.*420W GPR124_ENST00000315215.7_3'UTR NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 0 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) TGGATATCCATCAGGGAGGGT 0.488000 15 44 0 0 0.002450 0 0 TTC23L 153657 broad.mit.edu 37 5 34845770 34845770 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr5:34845770G>A ENST00000505624.1 + 3 350 c.247G>A c.(247-249)Gaa>Aaa p.E83K TTC23L_ENST00000514080.1_3'UTR NM_144725.3 NP_653326.3 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 83 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1) 22 GCTGATTAAGGAAAAAATGGT 0.358000 3 28 0 0 0.004672 0 0 TSSK2 23617 broad.mit.edu 37 22 19118994 19118994 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr22:19118994T>C ENST00000399635.2 + 1 674 c.82T>C c.(82-84)Tct>Cct p.S28P DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 28 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) AAAAGTCAAATCTGCCTACTC 0.507000 14 34 0 0 0.002450 0 0 ALG13 79868 broad.mit.edu 37 X 110979971 110979971 + Silent SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:110979971T>C ENST00000394780.3 + 23 2571 c.2559T>C c.(2557-2559)gcT>gcC p.A853A ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Silent_p.A749A NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 853 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 CAGTTGCAGCTTCCTGTGCCA 0.403000 21 171 0 0 0.002780 0 0 SCN3A 6328 broad.mit.edu 37 2 166032739 166032739 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr2:166032739C>G ENST00000360093.3 - 3 657 c.166G>C c.(166-168)Gaa>Caa p.E56Q SCN3A_ENST00000283254.7_Missense_Mutation_p.E56Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.E56Q NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 56 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTTCCAGCTTCCAAGTCACTA 0.428000 4 119 0 0 0.000602 0 0 WDR4 10785 broad.mit.edu 37 21 44299570 44299570 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr21:44299570C>G ENST00000398208.2 - 1 95 c.36G>C c.(34-36)caG>caC p.Q12H WDR4_ENST00000330317.2_Missense_Mutation_p.Q12H NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5 NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2 P57081 WDR4_HUMAN WD repeat domain 4 12 tRNA modification cytoplasm|nucleoplasm protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2) 11 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) CCACCAACGTCTGCCCGCACA 0.682000 37 60 0 0 0.007835 0 0 AADAC 13 broad.mit.edu 37 3 151545495 151545495 + Silent SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr3:151545495C>G ENST00000232892.6 + 5 861 c.735C>G c.(733-735)ctC>ctG p.L245L RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 245 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CCAAATCACTCATGGTCAGAT 0.363000 19 58 0 0 0.007413 0 0 GPRASP2 114928 broad.mit.edu 37 X 101971267 101971267 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:101971267C>T ENST00000543253.1 + 5 2389 c.1470C>T c.(1468-1470)acC>acT p.T490T GPRASP2_ENST00000332262.5_Silent_p.T490T|GPRASP2_ENST00000535209.1_Silent_p.T490T NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 GGCCCCAAACCTGGGACGAGG 0.507000 30 121 0 0 0.002096 0 0 SBF1 6305 broad.mit.edu 37 22 50897810 50897810 + Missense_Mutation SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr22:50897810C>A ENST00000380817.2 - 28 3883 c.3700G>T c.(3700-3702)Gcg>Tcg p.A1234S SBF1_ENST00000390679.3_Missense_Mutation_p.A1234S|SBF1_ENST00000348911.6_Missense_Mutation_p.A1235S NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1234 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CTCGAGTCCGCCTGGGACTGG 0.667000 16 18 0.00316338 0.00354298 0.003163 1 0 PLXND1 23129 broad.mit.edu 37 3 129281955 129281955 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr3:129281955G>T ENST00000393239.1 - 26 4828 c.4650C>A c.(4648-4650)aaC>aaA p.N1550K PLXND1_ENST00000324093.4_Missense_Mutation_p.N1550K Q9Y4D7 PLXD1_HUMAN plexin D1 1550 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TGGCCTCGATGTTCTCCCGCA 0.637000 17 23 3.45872e-05 4.03517e-05 0.004007 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 4 62 0 0 0.000248 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr2:178098810C>G ENST00000397062.3 - 2 789 c.235G>C c.(235-237)Gag>Cag p.E79Q NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E79K(10)|p.E79Q(10) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 20 43 0 0 0.001882 0 0 ADAM28 10863 broad.mit.edu 37 8 24184140 24184140 + Missense_Mutation SNP G G A rs139736903 byFrequency TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr8:24184140G>A ENST00000265769.4 + 10 1074 c.964G>A c.(964-966)Gtt>Att p.V322I ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Missense_Mutation_p.V69I|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.V89I|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.V322I|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 322 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TTCTGTTGGCGTTGTTCAGGT 0.338000 4 118 0 0 0.000602 0 0 AKAP14 158798 broad.mit.edu 37 X 119054501 119054501 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:119054501G>T ENST00000371431.3 + 7 799 c.525G>T c.(523-525)tgG>tgT p.W175C AKAP14_ENST00000371423.2_Missense_Mutation_p.W116C|AKAP14_ENST00000334356.2_Missense_Mutation_p.W115C|AKAP14_ENST00000371425.4_Missense_Mutation_p.W115C|AKAP14_ENST00000491105.1_3'UTR NM_178813.5 NP_848928.1 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 175 cytoplasm endometrium(4)|large_intestine(1)|lung(8) 13 GAGAAAACTGGCAGAAGAATC 0.338000 19 39 1.15919e-05 1.38116e-05 0.008871 1 0 BEST3 144453 broad.mit.edu 37 12 70048856 70048856 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr12:70048856G>C ENST00000330891.5 - 10 2064 c.1838C>G c.(1837-1839)tCt>tGt p.S613C BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.S400C|BEST3_ENST00000553096.1_Missense_Mutation_p.S507C NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 613 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AGCTGGCTGAGAGCTCATGGG 0.488000 18 32 0 0 0.004990 0 0 CFHR4 10877 broad.mit.edu 37 1 196874379 196874379 + Missense_Mutation SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:196874379C>A ENST00000367416.2 + 3 532 c.395C>A c.(394-396)aCa>aAa p.T132K CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GGATCAATTACATGTTTGCAA 0.328000 5 94 3.59834e-05 4.14055e-05 0.001168 1 0 ATRN 8455 broad.mit.edu 37 20 3575209 3575209 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr20:3575209G>A ENST00000262919.5 + 20 3474 c.3406G>A c.(3406-3408)Gag>Aag p.E1136K ATRN_ENST00000446916.2_Missense_Mutation_p.E1136K NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1136 Laminin EGF-like 2. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 CAAGGGGGACGAGTGCCAGCT 0.597000 14 57 0 0 0.002450 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85164140 85164140 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr15:85164140C>T ENST00000448803.2 + 3 1006 c.714C>T c.(712-714)atC>atT p.I238I ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.I238I|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.I237I|ZSCAN2_ENST00000358472.3_Silent_p.I88I NM_181877.3 NP_870992.2 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 238 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I238I(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) CCCACCTCATCACACACGAGA 0.493000 10 74 0 0 0.008291 0 0 DENND2D 79961 broad.mit.edu 37 1 111730992 111730992 + Splice_Site SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:111730992G>C ENST00000357640.4 - 11 1329 c.1099_splice c.e11-1 p.T367_splice DENND2D_ENST00000369752.5_Splice_Site_p.T364_splice NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 367 breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) TTGTTCTGCAGCTGCAGGAGA 0.483000 20 44 0 0 0.008871 0 0 CHIC1 53344 broad.mit.edu 37 X 72797282 72797282 + Silent SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:72797282C>G ENST00000373504.6 + 2 421 c.336C>G c.(334-336)tcC>tcG p.S112S CHIC1_ENST00000373502.5_Silent_p.S112S Q5VXU3 CHIC1_HUMAN cysteine-rich hydrophobic domain 1 112 cytoplasmic membrane-bounded vesicle|plasma membrane endometrium(1)|large_intestine(1)|lung(2) 4 Renal(35;0.156) AATTTCCCTCCGTTCTAACAG 0.343000 18 138 0 0 0.008871 0 0 LCN1 3933 broad.mit.edu 37 9 138415134 138415134 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr9:138415134G>A ENST00000263598.2 + 3 338 c.278G>A c.(277-279)gGa>gAa p.G93E LCN1_ENST00000371781.3_Missense_Mutation_p.G93E NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 93 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) GACGAGCCGGGAAAATACACG 0.632000 5 45 0 0 0.001168 0 0 DAXX 1616 broad.mit.edu 37 6 33289647 33289647 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr6:33289647G>A ENST00000374542.5 - 2 260 c.56C>T c.(55-57)gCt>gTt p.A19V DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.A19V NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 19 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 TGGCTGAGCAGCTGCTTCATC 0.602000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 4 137 0 0 0.000248 0 0 OR2A2 442361 broad.mit.edu 37 7 143806750 143806750 + Silent SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr7:143806750C>G ENST00000408979.2 + 1 144 c.75C>G c.(73-75)ctC>ctG p.L25L NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TGGCGATTCTCCTCTGTGGAC 0.517000 8 168 0 0 0.004482 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137416 40137416 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr11:40137416C>T ENST00000278198.2 - 2 2390 c.427G>A c.(427-429)Gct>Act p.A143T LRRC4C_ENST00000527150.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A143T Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 143 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TATACAAAAGCTCCATTCGGG 0.438000 23 53 0 0 0.002299 0 0 JPH4 84502 broad.mit.edu 37 14 24040391 24040391 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr14:24040391C>G ENST00000397118.3 - 6 2451 c.1549G>C c.(1549-1551)Gag>Cag p.E517Q JPH4_ENST00000544177.1_Missense_Mutation_p.E182Q|JPH4_ENST00000356300.4_Missense_Mutation_p.E517Q NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 517 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) ATCCCAGCCTCATCCTCAGCC 0.647000 18 164 0 0 0.006122 0 0 PRPS1 5631 broad.mit.edu 37 X 106888430 106888430 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chrX:106888430T>C ENST00000372435.4 + 5 676 c.554T>C c.(553-555)cTg>cCg p.L185P PRPS1_ENST00000543248.1_Missense_Mutation_p.L185P|PRPS1_ENST00000372428.4_Missense_Mutation_p.L118P|PRPS1_ENST00000372418.1_Missense_Mutation_p.L85P NM_002764.3 NP_002755.1 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 185 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 GCAGACAGGCTGAATGTGGAC 0.502000 9 286 0 0 0.004482 0 0 PDAP1 11333 broad.mit.edu 37 7 99002548 99002548 + Silent SNP C C A rs139029496 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr7:99002548C>A ENST00000350498.3 - 2 322 c.42G>T c.(40-42)gcG>gcT p.A14A NM_014891.6 NP_055706.1 Q13442 HAP28_HUMAN PDGFA associated protein 1 14 cell proliferation|signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) TATACTGCCTCGCCCGGCCTT 0.632000 16 56 0.000422831 0.00047675 0.004007 1 0 KIR2DL1 3802 broad.mit.edu 37 19 55284979 55284979 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:55284979C>T ENST00000336077.6 + 3 305 c.265C>T c.(265-267)Cgc>Tgc p.R89C KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89C|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 89 Ig-like C2-type 1. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTCCATCAGTCGCATGACGCA 0.532000 5 265 0 0 0.001168 0 0 INSC 387755 broad.mit.edu 37 11 15222416 15222416 + Missense_Mutation SNP T T G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr11:15222416T>G ENST00000379554.3 + 7 927 c.881T>G c.(880-882)tTc>tGc p.F294C INSC_ENST00000530161.1_Missense_Mutation_p.F247C|INSC_ENST00000528567.1_Missense_Mutation_p.F247C|INSC_ENST00000424273.1_Intron|INSC_ENST00000379556.3_Missense_Mutation_p.F247C|INSC_ENST00000447214.2_Intron|INSC_ENST00000525218.1_Intron NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 294 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 CAGGACAGTTTCCGGTGCTTG 0.587000 3 45 0 0 0.004672 0 0 SERPINA9 327657 broad.mit.edu 37 14 94931144 94931144 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr14:94931144T>C ENST00000337425.5 - 4 1078 c.1004A>G c.(1003-1005)aAt>aGt p.N335S SERPINA9_ENST00000298845.7_Missense_Mutation_p.N235S|SERPINA9_ENST00000380365.3_Missense_Mutation_p.N317S|SERPINA9_ENST00000424550.2_Missense_Mutation_p.N186S|SERPINA9_ENST00000546329.1_Missense_Mutation_p.N299S|SERPINA9_ENST00000448305.2_Missense_Mutation_p.N237S NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 317 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity p.N335S(2) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GGTTTCCAGATTGTAGGAGGC 0.448000 24 45 0 0 0.003954 0 0 CBX2 84733 broad.mit.edu 37 17 77753183 77753183 + Nonsense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr17:77753183G>T ENST00000310942.4 + 3 243 c.139G>T c.(139-141)Gag>Tag p.E47* CBX2_ENST00000269399.5_Nonsense_Mutation_p.E47* NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 47 Chromo. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGAGCCGGAGGAGAACATCCT 0.632000 19 12 8.00594e-06 9.60713e-06 0.007413 1 0 PSAP 5660 broad.mit.edu 37 10 73590951 73590951 + Missense_Mutation SNP A A C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr10:73590951A>C ENST00000394936.3 - 4 454 c.307T>G c.(307-309)Tct>Gct p.S103A PSAP_ENST00000394934.1_Missense_Mutation_p.S103A P07602 SAP_HUMAN prosaposin 103 Saposin B-type 1. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 CATGAAGCAGACATGTTCGGT 0.483000 30 62 0 0 0.006320 0 0 NLRP13 126204 broad.mit.edu 37 19 56424476 56424476 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:56424476C>T ENST00000588751.1 - 5 731 c.707G>A c.(706-708)aGg>aAg p.R236K NLRP13_ENST00000342929.3_Missense_Mutation_p.R236K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 236 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AACCCCTGCCCTCCCCACCAA 0.507000 4 130 0 0 0.000248 0 0 SYDE2 84144 broad.mit.edu 37 1 85666170 85666170 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:85666170G>A ENST00000341460.5 - 1 559 c.510C>T c.(508-510)ggC>ggT p.G170G NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 170 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) GGTCTCCTTTGCCACTGCGTA 0.642000 31 51 0 0 0.007291 0 0 MUC6 4588 broad.mit.edu 37 11 1026050 1026050 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr11:1026050C>G ENST00000421673.2 - 21 2688 c.2638G>C c.(2638-2640)Gac>Cac p.D880H NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 880 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGCTGGCCGTCGAAGGTGATG 0.677000 3 7 0 0 0.000248 0 0 FLG 2312 broad.mit.edu 37 1 152285104 152285104 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:152285104T>A ENST00000368799.1 - 3 2293 c.2258A>T c.(2257-2259)cAt>cTt p.H753L FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 753 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) GTCTTCTGAATGTCCCTCACT 0.582000 Ichthyosis 15 785 0 0 0.002450 0 0 SLC39A8 64116 broad.mit.edu 37 4 103226195 103226195 + Missense_Mutation SNP A A T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr4:103226195A>T ENST00000424970.2 - 5 941 c.626T>A c.(625-627)cTt>cAt p.L209H SLC39A8_ENST00000356736.4_Missense_Mutation_p.L209H|SLC39A8_ENST00000394833.2_Missense_Mutation_p.L209H|SLC39A8_ENST00000510255.1_5'UTR NM_001135147.1 NP_001128619.1 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), member 8 209 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) AAAAAAGAAAAGTAGGTAAAA 0.348000 6 32 0 0 0.001168 0 0 RALGAPB 57148 broad.mit.edu 37 20 37202933 37202933 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr20:37202933G>A ENST00000262879.6 + 29 4567 c.4283G>A c.(4282-4284)cGa>cAa p.R1428Q RALGAPB_ENST00000397040.1_Missense_Mutation_p.R1428Q|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R1425Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R1207Q Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1428 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GTCAGCAGGCGAGCTCTTGGT 0.358000 9 154 0 0 0.006214 0 0 OSBPL2 9885 broad.mit.edu 37 20 60835171 60835171 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr20:60835171C>G ENST00000313733.3 + 3 374 c.172C>G c.(172-174)Cag>Gag p.Q58E OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Missense_Mutation_p.Q46E NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 58 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GAACGGAATTCAGAAACACAG 0.453000 18 58 0 0 0.006122 0 0 ASXL1 171023 broad.mit.edu 37 20 31023531 31023531 + Nonsense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr20:31023531G>T ENST00000375687.4 + 13 3440 c.3016G>T c.(3016-3018)Gaa>Taa p.E1006* ASXL1_ENST00000306058.5_Nonsense_Mutation_p.E1001* NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1006 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CTCTGACTTTGAAGGTCACCT 0.502000 """F, N, Mis""" """MDS, CMML""" 32 53 8.16721e-17 1.01636e-16 0.002096 1 0 TYW1B 441250 broad.mit.edu 37 7 72209576 72209576 + RNA SNP C C G rs147711959 by1000genomes TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr7:72209576C>G ENST00000438125.1 - 0 579 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTCGGAGCATCGACTATGACA 0.413000 3 61 0 0 0.004672 0 0 EPAS1 2034 broad.mit.edu 37 2 46605175 46605175 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr2:46605175C>T ENST00000263734.3 + 10 1902 c.1392C>T c.(1390-1392)gcC>gcT p.A464A NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 464 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) AGGCAGCTGCCCCGGGCAGCA 0.682000 3 11 0 0 0.004672 0 0 ADCY1 107 broad.mit.edu 37 7 45725669 45725669 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr7:45725669C>T ENST00000297323.7 + 13 2204 c.2182C>T c.(2182-2184)Cac>Tac p.H728Y NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 728 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CGAGTCTACACACCATGCCCT 0.637000 16 61 0 0 0.004007 0 0 OR10X1 128367 broad.mit.edu 37 1 158548862 158548862 + Frame_Shift_Del DEL C C - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:158548862delC ENST00000368150.1 - 1 827 c.828delG c.(826-828)ttfs p.L276fs NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CTTCTGGCTTCAAATAAACAA 0.493 11 130 --- --- --- --- LYST 1130 broad.mit.edu 37 1 235972380 235972385 + In_Frame_Del DEL TGTTAT TGTTAT - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:235972380_235972385delTGTTAT ENST00000389794.3 - 5 1907_1912 c.1733_1738delATAACA c.(1732-1740)ctt>c p.HNI578del LYST_ENST00000389793.2_In_Frame_Del_p.HNI578del|LYST_ENST00000536965.1_In_Frame_Del_p.HNI578del Q99698 LYST_HUMAN lysosomal trafficking regulator 578 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CATATTCCAATGTTATGAACACCCGA 0.442 7 134 --- --- --- --- FBXO48 554251 broad.mit.edu 37 2 68691399 68691400 + Frame_Shift_Del DEL AT AT - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:68691399_68691400delAT ENST00000377957.2 - 4 816_817 c.409_410delAT c.(409-411)gfs p.M137fs NM_001024680.1 NP_001019851.1 Q5FWF7 FBX48_HUMAN F-box protein 48 137 endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 CATTGGGTACATGATTTTTTCT 0.391 16 205 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475010 217475010 + RNA DEL G G - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:217475010delG ENST00000441803.1 + 0 195 ttttttttttGAAAGAAAGGC 0.393 2 4 --- --- --- --- TPD52L1 7164 broad.mit.edu 37 6 125541335 125541345 + Splice_Site DEL TTCAGGTATGT TTCAGGTATGT - rs111553148 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:125541335_125541345delTTCAGGTATGT ENST00000534000.1 + 2 427_431 c.135_splice c.e2+1 p.44_splice TPD52L1_ENST00000534199.1_Splice_Site_p.15_splice|TPD52L1_ENST00000392482.2_Splice_Site_p.15_splice|TPD52L1_ENST00000304877.13_Splice_Site_p.44_splice|TPD52L1_ENST00000524679.1_Splice_Site_p.15_splice|TPD52L1_ENST00000532429.1_Splice_Site_p.15_splice|TPD52L1_ENST00000527711.1_Splice_Site_p.44_splice|TPD52L1_ENST00000368402.5_Splice_Site_p.44_splice|TPD52L1_ENST00000368388.2_Splice_Site_p.44_splice|TPD52L1_ENST00000528193.1_Splice_Site_p.44_splice NM_003287.2 NP_003278.1 Q16890 TPD53_HUMAN tumor protein D52-like 1 44 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(2)|large_intestine(2)|prostate(1) 5 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) GCAGAGTTAGTTCAGGTATGTTTAGTAATCT 0.355 9 78 --- --- --- --- DEPTOR 64798 broad.mit.edu 37 8 120977486 120977486 + Frame_Shift_Del DEL A A - rs35198895 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr8:120977486delA ENST00000286234.5 + 4 570 c.440delA c.(439-441)gafs p.E147fs DEPTOR_ENST00000523492.1_Frame_Shift_Del_p.E46fs NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 147 DEP 2. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 ATGAGCCCTGAAAACACACTC 0.468 7 56 --- --- --- --- TRIM21 6737 broad.mit.edu 37 11 4406682 4406684 + In_Frame_Del DEL AGA AGA - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:4406682_4406684delAGA ENST00000254436.7 - 7 1371_1373 c.1259_1261delTCT c.(1258-1263)tac>t p.FY420del TRIM21_ENST00000543625.1_In_Frame_Del_p.FY420del NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 420 B30.2/SPRY. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) GTGATGTTGTAGAAGGAGACCAT 0.532 7 12 --- --- --- --- VPS37C 55048 broad.mit.edu 37 11 60899313 60899313 + Frame_Shift_Del DEL C C - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:60899313delC ENST00000301765.5 - 5 1279 c.1047delG c.(1045-1047)ggfs p.G349fs NM_017966.4 NP_060436.4 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37 homolog C (S. cerevisiae) 349 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GCCAGGCAGGCCCCGGCGGTG 0.697 2 4 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53007615 53007616 + Frame_Shift_Del DEL GG GG - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:53007615_53007616delGG ENST00000305748.3 - 5 874_875 c.840_841delCC c.(838-843)tcacfs p.SH280fs RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 280 Linker 12.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TCGCTGATGTGGGACTGGATCT 0.559 11 141 --- --- --- --- STAC3 246329 broad.mit.edu 37 12 57640658 57640659 + Frame_Shift_Del DEL AC AC - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:57640658_57640659delAC ENST00000332782.2 - 6 732_733 c.531_532delGT c.(529-534)gtttfs p.VF177fs STAC3_ENST00000554578.1_Frame_Shift_Del_p.VF138fs|STAC3_ENST00000546246.2_5'UTR NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 177 intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 AGGGTTTCAAACACAGGATCAT 0.510 52 151 --- --- --- --- AJUBA 84962 broad.mit.edu 37 14 23450563 23450563 + Frame_Shift_Del DEL C C - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr14:23450563delC ENST00000262713.2 - 1 1288 c.913delG c.(913-915)agfs p.E305fs AJUBA_ENST00000361265.4_Frame_Shift_Del_p.E305fs|RP11-298I3.5_ENST00000555074.1_Intron NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 305 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CCCGACGGCTCAATCCCCGAG 0.697 11 13 --- --- --- --- HERC2P4 100289574 broad.mit.edu 37 16 32126700 32126726 + RNA DEL AATGTGAACATACAAAAAACAAATCAG AATGTGAACATACAAAAAACAAATCAG - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG ENST00000564145.1 - 0 456 ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT 0.352 3 4 --- --- --- --- DOCK6 57572 broad.mit.edu 37 19 11313343 11313343 + Frame_Shift_Del DEL G G - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:11313343delG ENST00000294618.7 - 42 5289 c.5278delC c.(5278-5280)acfs p.H1760fs DOCK6_ENST00000319867.7_Frame_Shift_Del_p.H1099fs|DOCK6_ENST00000586702.1_5'UTR NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1760 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 TCACCGAAGTGGGCGCCGTAG 0.617 7 209 --- --- --- --- RP4-769N13.6 0 broad.mit.edu 37 X 101870740 101870740 + RNA DEL T T - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:101870740delT ENST00000476910.1 + 0 739 RP4-769N13.7_ENST00000602441.1_RNA GGTGGCCAGattttttttttg 0.328 3 4 --- --- --- --- OR10X1 128367 broad.mit.edu 37 1 158548862 158548862 + Frame_Shift_Del DEL C C - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:158548862delC ENST00000368150.1 - 1 827 c.828delG c.(826-828)ttfs p.L276fs NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CTTCTGGCTTCAAATAAACAA 0.493 11 130 --- --- --- --- LYST 1130 broad.mit.edu 37 1 235972380 235972385 + In_Frame_Del DEL TGTTAT TGTTAT - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr1:235972380_235972385delTGTTAT ENST00000389794.3 - 5 1907_1912 c.1733_1738delATAACA c.(1732-1740)ctt>c p.HNI578del LYST_ENST00000389793.2_In_Frame_Del_p.HNI578del|LYST_ENST00000536965.1_In_Frame_Del_p.HNI578del Q99698 LYST_HUMAN lysosomal trafficking regulator 578 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CATATTCCAATGTTATGAACACCCGA 0.442 7 134 --- --- --- --- FBXO48 554251 broad.mit.edu 37 2 68691399 68691400 + Frame_Shift_Del DEL AT AT - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr2:68691399_68691400delAT ENST00000377957.2 - 4 816_817 c.409_410delAT c.(409-411)gfs p.M137fs NM_001024680.1 NP_001019851.1 Q5FWF7 FBX48_HUMAN F-box protein 48 137 endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 CATTGGGTACATGATTTTTTCT 0.391 16 205 --- --- --- --- TPD52L1 7164 broad.mit.edu 37 6 125541335 125541345 + Splice_Site DEL TTCAGGTATGT TTCAGGTATGT - rs111553148 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr6:125541335_125541345delTTCAGGTATGT ENST00000534000.1 + 2 427_431 c.135_splice c.e2+1 p.44_splice TPD52L1_ENST00000527711.1_Splice_Site_p.44_splice|TPD52L1_ENST00000524679.1_Splice_Site_p.15_splice|TPD52L1_ENST00000534199.1_Splice_Site_p.15_splice|TPD52L1_ENST00000392482.2_Splice_Site_p.15_splice|TPD52L1_ENST00000368388.2_Splice_Site_p.44_splice|TPD52L1_ENST00000304877.13_Splice_Site_p.44_splice|TPD52L1_ENST00000368402.5_Splice_Site_p.44_splice|TPD52L1_ENST00000532429.1_Splice_Site_p.15_splice|TPD52L1_ENST00000528193.1_Splice_Site_p.44_splice NM_003287.2 NP_003278.1 Q16890 TPD53_HUMAN tumor protein D52-like 1 44 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(2)|large_intestine(2)|prostate(1) 5 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) GCAGAGTTAGTTCAGGTATGTTTAGTAATCT 0.355 9 78 --- --- --- --- MAP3K4 4216 broad.mit.edu 37 6 161413044 161413045 + In_Frame_Ins INS - - CCG TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr6:161413044_161413045insCCG ENST00000392142.4 + 1 229_230 c.81_82insCCG c.(79-84)cccgcc>ccCCGcgcc p.27_28PA>PRA MAP3K4_ENST00000348824.7_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366920.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366919.2_In_Frame_Ins_p.27_28PA>PRA NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 27 Poly-Pro. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) Agccgccgccaccgccgccgcc 0.738 4 7 --- --- --- --- DEPTOR 64798 broad.mit.edu 37 8 120977486 120977486 + Frame_Shift_Del DEL A A - rs35198895 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr8:120977486delA ENST00000286234.5 + 4 570 c.440delA c.(439-441)gafs p.E147fs DEPTOR_ENST00000523492.1_Frame_Shift_Del_p.E46fs NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 147 DEP 2. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 ATGAGCCCTGAAAACACACTC 0.468 7 56 --- --- --- --- TRIM21 6737 broad.mit.edu 37 11 4406682 4406684 + In_Frame_Del DEL AGA AGA - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr11:4406682_4406684delAGA ENST00000254436.7 - 7 1371_1373 c.1259_1261delTCT c.(1258-1263)tac>t p.FY420del TRIM21_ENST00000543625.1_In_Frame_Del_p.FY420del NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 420 B30.2/SPRY. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) GTGATGTTGTAGAAGGAGACCAT 0.532 7 12 --- --- --- --- VPS37C 55048 broad.mit.edu 37 11 60899313 60899313 + Frame_Shift_Del DEL C C - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr11:60899313delC ENST00000301765.5 - 5 1279 c.1047delG c.(1045-1047)ggfs p.G349fs NM_017966.4 NP_060436.4 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37 homolog C (S. cerevisiae) 349 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GCCAGGCAGGCCCCGGCGGTG 0.697 2 4 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53007615 53007616 + Frame_Shift_Del DEL GG GG - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr12:53007615_53007616delGG ENST00000305748.3 - 5 874_875 c.840_841delCC c.(838-843)tcacfs p.SH280fs RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 280 Linker 12.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TCGCTGATGTGGGACTGGATCT 0.559 11 141 --- --- --- --- STAC3 246329 broad.mit.edu 37 12 57640658 57640659 + Frame_Shift_Del DEL AC AC - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr12:57640658_57640659delAC ENST00000332782.2 - 6 732_733 c.531_532delGT c.(529-534)gtttfs p.VF177fs STAC3_ENST00000554578.1_Frame_Shift_Del_p.VF138fs|STAC3_ENST00000546246.2_5'UTR NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 177 intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 AGGGTTTCAAACACAGGATCAT 0.510 52 151 --- --- --- --- AJUBA 84962 broad.mit.edu 37 14 23450563 23450563 + Frame_Shift_Del DEL C C - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr14:23450563delC ENST00000262713.2 - 1 1288 c.913delG c.(913-915)agfs p.E305fs AJUBA_ENST00000361265.4_Frame_Shift_Del_p.E305fs|RP11-298I3.5_ENST00000555074.1_Intron NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 305 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CCCGACGGCTCAATCCCCGAG 0.697 11 13 --- --- --- --- HERC2P4 100289574 broad.mit.edu 37 16 32126700 32126726 + RNA DEL AATGTGAACATACAAAAAACAAATCAG AATGTGAACATACAAAAAACAAATCAG - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG ENST00000564145.1 - 0 456 ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT 0.352 3 4 --- --- --- --- DOCK6 57572 broad.mit.edu 37 19 11313343 11313343 + Frame_Shift_Del DEL G G - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx c984165c-88ea-4840-a980-be818db16820 77a82ab0-ef13-4632-aa37-ebe89f111306 g.chr19:11313343delG ENST00000294618.7 - 42 5289 c.5278delC c.(5278-5280)acfs p.H1760fs DOCK6_ENST00000586702.1_5'UTR|DOCK6_ENST00000319867.7_Frame_Shift_Del_p.H1099fs NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1760 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 TCACCGAAGTGGGCGCCGTAG 0.617 7 209 --- --- --- ---