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 MASP2 10747 broad.mit.edu 37 1 11107017 11107017 + Silent SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:11107017G>A uc001aru.3 - 1 197 c.165C>T c.(163-165)taC>taT p.Y55Y MASP2_uc001arv.3_Silent_p.Y55Y|MASP2_uc001arw.3_Silent_p.Y55Y|MASP2_uc001arx.2_Silent_p.Y55Y NM_006610 NP_006601 O00187 MASP2_HUMAN Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA. 55 CUB 1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) GGCGCAGGCGGTAGCCGGGGG 0.657 ZNF362 149076 broad.mit.edu 37 1 33745906 33745906 + Missense_Mutation SNP G G C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:33745906G>C uc001bxc.1 + 4 701 c.531G>C c.(529-531)aaG>aaC p.K177N NM_152493 NP_689706 Q5T0B9 ZN362_HUMAN Homo sapiens zinc finger protein 362 (ZNF362), mRNA. 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) ACTCCATCAAGACAATCCAGG 0.667 KLF17 128209 broad.mit.edu 37 1 44595485 44595485 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:44595485G>A uc001clp.3 + 1 600 c.542G>A c.(541-543)gGc>gAc p.G181D KLF17_uc009vxf.1_Missense_Mutation_p.G144D NM_173484 NP_775755 Q5JT82 KLF17_HUMAN Homo sapiens Kruppel-like factor 17 (KLF17), mRNA. 181 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) CCTTACCCTGGCCTCTCGACA 0.597 LRRC7 57554 broad.mit.edu 37 1 70489054 70489054 + Missense_Mutation SNP A A T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:70489054A>T uc001dep.3 + 14 1707 c.1677A>T c.(1675-1677)agA>agT p.R559S LRRC7_uc009wbg.3_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 559 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TAAGTGGCAGACAGGTAGGCC 0.507 NEGR1 257194 broad.mit.edu 37 1 72400892 72400892 + Missense_Mutation SNP A A C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:72400892A>C uc001dfw.3 - 1 507 c.279T>G c.(277-279)atT>atG p.I93M NEGR1_uc001dfv.3_5'UTR|NEGR1_uc010oqs.2_Missense_Mutation_p.I93M NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA. 93 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) TCAATGTTGAAATTGAAACTC 0.443 MOV10 4343 broad.mit.edu 37 1 113232671 113232671 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:113232671G>A uc001eck.3 + 4 1057 c.787G>A c.(787-789)Gga>Aga p.G263R MOV10_uc001ecl.2_Missense_Mutation_p.G263R|MOV10_uc001ecn.3_Missense_Mutation_p.G263R|MOV10_uc001ecm.3_Missense_Mutation_p.G203R|MOV10_uc009wgj.1_Missense_Mutation_p.G203R NM_001130079 NP_066014 Q9HCE1 MOV10_HUMAN Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA. 263 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CCGGATCACCGGAAACCCTGT 0.602 INSRR 3645 broad.mit.edu 37 1 156816384 156816384 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:156816384C>T uc010pht.2 - 7 2036 c.1737G>A c.(1735-1737)acG>acA p.T579T NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 579 Fibronectin type-III 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGTGGTTAGCGTGATGGCCC 0.607 OR10Z1 128368 broad.mit.edu 37 1 158576316 158576316 + Silent SNP T T C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:158576316T>C uc010pio.2 + 0 88 c.88T>C c.(88-90)Ttg>Ctg p.L30L NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TCTCTTTGCCTTGTTCCTCTC 0.502 ATF6 22926 broad.mit.edu 37 1 161816315 161816315 + Missense_Mutation SNP T T C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:161816315T>C uc001gbs.3 + 9 1381 c.1264T>C c.(1264-1266)Tct>Cct p.S422P ATF6_uc001gbq.2_Missense_Mutation_p.S422P NM_007348 NP_031374 P18850 ATF6A_HUMAN Homo sapiens activating transcription factor 6 (ATF6), mRNA. 422 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) TCTAGGATTTTCTGCTAAAGA 0.403 GORAB 92344 broad.mit.edu 37 1 170511696 170511696 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:170511696C>T uc001gha.2 + 2 586 c.559C>T c.(559-561)Cgt>Tgt p.R187C GORAB_uc001ggz.4_Missense_Mutation_p.R187C|GORAB_uc009wvx.2_Missense_Mutation_p.R7C|GORAB_uc001ghb.2_Missense_Mutation_p.R7C|GORAB_uc001ghc.2_Missense_Mutation_p.R7C|GORAB_uc001ghd.2_5'Flank NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA. 187 Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 GAAAAATAAACGTAAAAAAGC 0.398 PAPPA2 60676 broad.mit.edu 37 1 176526282 176526282 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:176526282G>A uc001gkz.3 + 1 1988 c.824G>A c.(823-825)cGt>cAt p.R275H PAPPA2_uc001gky.1_Missense_Mutation_p.R275H|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 275 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTGCTGCTGCGTCCAGAAGTG 0.577 HMCN1 83872 broad.mit.edu 37 1 186062774 186062774 + Missense_Mutation SNP G G A rs143555094 TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:186062774G>A uc001grq.1 + 65 10398 c.10169G>A c.(10168-10170)cGg>cAg p.R3390Q MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 3390 Ig-like C2-type 32. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TCCCATATCCGGTTACTGGCA 0.428 AVPR1B 553 broad.mit.edu 37 1 206224826 206224826 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:206224826C>T uc001hds.2 + 0 544 c.386C>T c.(385-387)aCg>aTg p.T129M NM_000707 NP_000698 P47901 V1BR_HUMAN Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA. 129 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity p.T129M(4) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CTGGCCATGACGCTGGACCGC 0.657 CD55 1604 broad.mit.edu 37 1 207500170 207500170 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:207500170C>T uc001hfq.4 + 4 946 c.652C>T c.(652-654)Cca>Tca p.P218S CD55_uc001hfr.4_Missense_Mutation_p.P218S|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.P154S|CD55_uc009xce.3_Missense_Mutation_p.P218S NM_000574 NP_000565 P08174 DAF_HUMAN Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA. 218 Sushi 3. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) TGACCCGTTGCCAGAGTGCAG 0.403 SIPA1L2 57568 broad.mit.edu 37 1 232581433 232581433 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:232581433C>T uc001hvg.3 - 8 3353 c.3195G>A c.(3193-3195)acG>acA p.T1065T SIPA1L2_uc001hvf.3_Silent_p.T139T NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 1065 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCCGGTGCCACGTGGTGTTCC 0.642 OR2L13 284521 broad.mit.edu 37 1 248262881 248262881 + Missense_Mutation SNP G G T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:248262881G>T uc001ids.3 + 2 541 c.204G>T c.(202-204)atG>atT p.M68I OR2L13_uc021pmc.1_Missense_Mutation_p.M68I NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 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;0.0132) TCTCCCTTATGGACCTGATGT 0.547 OR2T4 127074 broad.mit.edu 37 1 248525679 248525679 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:248525679G>A uc001ieh.1 + 0 797 c.797G>A c.(796-798)cGg>cAg p.R266Q NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCAGAGGGCCGGAAAAAGGCC 0.547 OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:248616705_248616711delTGCTGCG uc001iek.1 + 0 607_613 c.607_613delTGCTGCG c.(607-615)tgctgcgtgfs p.C203fs NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 GDF2 2658 broad.mit.edu 37 10 48413956 48413956 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr10:48413956C>T uc001jfa.1 - 1 1072 c.912G>A c.(910-912)acG>acA p.T304T NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 304 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 CGTGGCCATCCGTGTCCTCCT 0.607 A1CF 29974 broad.mit.edu 37 10 52566580 52566580 + Missense_Mutation SNP G G T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr10:52566580G>T uc001jjj.3 - 12 1882 c.1694C>A c.(1693-1695)aCc>aAc p.T565N A1CF_uc010qho.2_Missense_Mutation_p.T573N|A1CF_uc010qhn.2_Missense_Mutation_p.T565N|A1CF_uc009xov.3_Missense_Mutation_p.T557N|A1CF_uc001jji.3_Missense_Mutation_p.T557N|A1CF_uc001jjh.3_Missense_Mutation_p.T565N NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA. 565 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TTGTCCAAGGGTTACCGCTTG 0.493 PTEN 5728 broad.mit.edu 37 10 89692883 89692883 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr10:89692883C>T uc001kfb.3 + 4 1399 c.367C>T c.(367-369)Cac>Tac p.H123Y PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 123 Phosphatase tensin-type. H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.H123Y(10)|p.I122fs*2(6)|p.?(5)|p.R55fs*1(5)|p.H123D(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.I122N(1)|p.I122S(1)|p.I122V(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGCAGCAATTCACTGTAAAGC 0.398 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) FAM178A 55719 broad.mit.edu 37 10 102676871 102676871 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr10:102676871C>T uc001krs.3 + 2 1271 c.729C>T c.(727-729)taC>taT p.Y243Y FAM178A_uc001krr.1_Silent_p.Y243Y|FAM178A_uc001krt.4_Silent_p.Y243Y|FAM178A_uc001kru.1_Silent_p.Y179Y NM_001136123 NP_001129595 Q8IX21 F178A_HUMAN Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA. 243 TAGCTTCTTACTGCAGAGAAC 0.473 PCGF6 84108 broad.mit.edu 37 10 105108477 105108477 + Missense_Mutation SNP T T C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr10:105108477T>C uc001kwt.3 - 2 621 c.553A>G c.(553-555)Ata>Gta p.I185V PCGF6_uc001kwu.3_Missense_Mutation_p.I185V|PCGF6_uc009xxk.3_Non-coding_Transcript|PCGF6_uc009xxl.3_Non-coding_Transcript NM_001011663 NP_001011663 Q9BYE7 PCGF6_HUMAN Homo sapiens polycomb group ring finger 6 (PCGF6), transcript variant 1, mRNA. 185 negative regulation of transcription, DNA-dependent PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3) 8 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205) TCTTACCTTATGTTATAAAGA 0.284 OR56B4 196335 broad.mit.edu 37 11 6129052 6129052 + Missense_Mutation SNP T T A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:6129052T>A uc010qzx.2 + 0 44 c.44T>A c.(43-45)aTt>aAt p.I15N NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA. 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCCTCCAGATTTCCCAGTTC 0.493 QSER1 79832 broad.mit.edu 37 11 32954286 32954286 + Silent SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:32954286G>A uc001mty.3 + 3 1362 c.1095G>A c.(1093-1095)aaG>aaA p.K365K QSER1_uc001mtz.1_Intron|QSER1_uc001mua.3_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN Homo sapiens glutamine and serine rich 1 (QSER1), mRNA. 365 Ser-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) GGTCCAGCAAGGTTGAGAAAT 0.383 OR5AR1 219493 broad.mit.edu 37 11 56431526 56431526 + Missense_Mutation SNP G G A rs143043362 TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:56431526G>A uc010rjm.2 + 0 365 c.365G>A c.(364-366)cGt>cAt p.R122H OR8U8_uc001nit.2_Intron NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 GCCTATGGTCGTTTTGTGGCC 0.512 PLAC1L 219990 broad.mit.edu 37 11 59807826 59807826 + Translation_Start_Site SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:59807826C>T uc001nol.3 + 0 NM_173801 NP_776162 Q86WS3 PLACL_HUMAN Homo sapiens placenta-specific 1-like (PLAC1L), mRNA. extracellular region breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1) 15 AGGAGGAAAACGAACGCAGCT 0.463 MS4A14 84689 broad.mit.edu 37 11 60183888 60183888 + Missense_Mutation SNP T T A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:60183888T>A uc001npj.3 + 4 2012 c.1447T>A c.(1447-1449)Tca>Aca p.S483T MS4A14_uc001npi.3_Missense_Mutation_p.S371T|MS4A14_uc001npn.3_Missense_Mutation_p.S221T|MS4A14_uc001npk.3_Missense_Mutation_p.S466T|MS4A14_uc001npl.3_Missense_Mutation_p.S221T|MS4A14_uc001npm.3_Missense_Mutation_p.S221T NM_032597 NP_115986 Q96JA4 M4A14_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA. 483 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 AAGAAAATCCTCAAGACGGCA 0.398 AHNAK 79026 broad.mit.edu 37 11 62285625 62285625 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:62285625C>T uc001ntl.3 - 4 16564 c.16264G>A c.(16264-16266)Gtc>Atc p.V5422I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 5422 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTGGCATTGACGTGCAAGTCG 0.532 RBM14 5936 broad.mit.edu 37 11 66411364 66411384 + In_Frame_Del DEL GCTGCTGCTGCAGCAGCAGCC GCTGCTGCTGCAGCAGCAGCC - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC uc009yrj.3 + 2 1344_1364 c.856_876delGCTGCTGCTGCAGCAGCAGCC c.(856-876)gctgctgctgcagcagcagccdel p.AAAAAAA286del RBM14_uc009yrk.3_In_Frame_Del_p.AAAAAAA261del|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_In_Frame_Del_p.AAAAAAA286del|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_In_Frame_Del_p.AAAAAAA286del NM_002896 NP_002887 Q96PK6 RBM14_HUMAN Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA. 480 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 tgctgccacagctgctgctgcagcagcagccgctgctgctg 0.615 DHH 50846 broad.mit.edu 37 12 49483743 49483743 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr12:49483743G>A uc001rtf.3 - 2 1397 c.1090C>T c.(1090-1092)Cac>Tac p.H364Y NM_021044 NP_066382 O43323 DHH_HUMAN Homo sapiens desert hedgehog (DHH), mRNA. 364 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding breast(1)|large_intestine(3)|lung(4) 8 CCTAGCGCGTGCAGCAGTCTC 0.667 ACVRL1 94 broad.mit.edu 37 12 52312886 52312887 + Missense_Mutation DNP TG TG GT TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr12:52312886_52312887TG>GT uc001rzj.3 + 8 1647_1648 c.1364_1365TG>GT c.(1363-1365)ctg>cGT p.L455R ACVRL1_uc001rzk.3_Missense_Mutation_p.L455R|ACVRL1_uc010snm.2_Missense_Mutation_p.L281R NM_000020 NP_001070869 P37023 ACVL1_HUMAN Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA. 455 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCTAACCGGCTGGCTGCAGACC 0.599 TPCN1 53373 broad.mit.edu 37 12 113730818 113730818 + Silent SNP G G C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr12:113730818G>C uc001tux.3 + 26 2583 c.2409G>C c.(2407-2409)cgG>cgC p.R803R TPCN1_uc001tuw.3_Silent_p.R731R|TPCN1_uc010syu.2_5'Flank NM_001143819 NP_060371 Q9ULQ1 TPC1_HUMAN Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA. 731 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGGAGGCACGGGGGGCCTCCT 0.617 ORAI1 84876 broad.mit.edu 37 12 122079191 122079191 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr12:122079191G>A uc021rff.1 + 1 747 c.554G>A c.(553-555)gGc>gAc p.G185D NM_032790 NP_116179 Q96D31 CRCM1_HUMAN Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA. 183 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) ACCGTCATCGGCACGCTGCTC 0.637 ENOX1 55068 broad.mit.edu 37 13 43935415 43935415 + Missense_Mutation SNP T T C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr13:43935415T>C uc001uza.4 - 6 682 c.382_splice c.e6+1 p.N128_splice ENOX1_uc001uzc.4_Splice_Site_p.N128_splice|ENOX1_uc001uzb.4_Splice_Site_p.N128_splice|ENOX1_uc010tfm.1_5'Flank NM_001127615 NP_060463 Q8TC92 ENOX1_HUMAN Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA. 128 Pro-rich. electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) CGTTACTTACTTGGATTTTGA 0.378 PRKD1 5587 broad.mit.edu 37 14 30068325 30068325 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr14:30068325C>T uc001wqh.3 - 14 2255 c.2074G>A c.(2074-2076)Gtg>Atg p.V692M MIR548AI_uc021rrv.1_Intron NM_002742 NP_002733 Q15139 KPCD1_HUMAN Homo sapiens protein kinase D1 (PRKD1), mRNA. 692 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CGCAAAGCCACGAGTATCTGT 0.368 MKRN3 7681 broad.mit.edu 37 15 23811197 23811197 + Nonsense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:23811197C>T uc001ywh.4 + 0 744 c.268C>T c.(268-270)Cga>Tga p.R90* MKRN3_uc001ywi.3_Nonsense_Mutation_p.R90*|MKRN3_uc010ayi.1_Nonsense_Mutation_p.R90* NM_005664 NP_005655 Q13064 MKRN3_HUMAN Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA. 90 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.R90L(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GTTGCCAAGCCGAAGCAGCGG 0.607 FBN1 2200 broad.mit.edu 37 15 48744871 48744871 + Missense_Mutation SNP C C A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:48744871C>A uc001zwx.2 - 44 5828 c.5433G>T c.(5431-5433)gaG>gaT p.E1811D FBN1_uc010beo.2_Non-coding_Transcript NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 1811 EGF-like 30; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGTTCTGACACTCGTCAATAT 0.488 VPS13C 54832 broad.mit.edu 37 15 62292774 62292774 + Missense_Mutation SNP C C A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:62292774C>A uc002agz.3 - 15 1433 c.1342G>T c.(1342-1344)Gca>Tca p.A448S VPS13C_uc002aha.3_Missense_Mutation_p.A405S|VPS13C_uc002ahb.2_Missense_Mutation_p.A448S|VPS13C_uc002ahc.2_Missense_Mutation_p.A405S NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 448 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TCAACTTGTGCTTGTTGCCTT 0.308 TLN2 83660 broad.mit.edu 37 15 63058560 63058560 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:63058560G>A uc002alb.4 + 37 5135 c.5135G>A c.(5134-5136)gGa>gAa p.G1712E TLN2_uc002alc.4_Missense_Mutation_p.G105E|TLN2_uc002ald.3_Missense_Mutation_p.G105E NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 1712 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CAGGAAATCGGACACCTTATC 0.572 SH3GL3 6457 broad.mit.edu 37 15 84245409 84245409 + Silent SNP C C T rs138675150 byFrequency TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:84245409C>T uc002bjw.3 + 5 735 c.540C>T c.(538-540)gaC>gaT p.D180D SH3GL3_uc010uot.1_Silent_p.D180D|SH3GL3_uc002bjx.3_Silent_p.D111D|SH3GL3_uc002bju.3_Silent_p.D188D|SH3GL3_uc002bjv.3_Non-coding_Transcript NM_003027 NP_003018 Q99963 SH3G3_HUMAN Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA. 180 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 AGATACCAGACGAAGAAGTCA 0.383 CHD2 1106 broad.mit.edu 37 15 93563361 93563361 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:93563361G>A uc002bsp.3 + 37 5601 c.5026G>A c.(5026-5028)Ggg>Agg p.G1676R CHD2_uc002bso.1_Missense_Mutation_p.G1676R NM_001271 NP_001262 O14647 CHD2_HUMAN Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA. 1676 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CCACCATTATGGGGACCGGCG 0.527 IL4R 3566 broad.mit.edu 37 16 27363945 27363945 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr16:27363945C>T uc002don.3 + 6 840 c.598C>T c.(598-600)Cgg>Tgg p.R200W IL4R_uc002dom.3_Missense_Mutation_p.R200W|IL4R_uc002dop.4_Missense_Mutation_p.R185W|IL4R_uc010bxy.3_Missense_Mutation_p.R200W|IL4R_uc002doo.3_Missense_Mutation_p.R40W NM_000418 NP_000409 P24394 IL4RA_HUMAN Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA. 200 Fibronectin type-III. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity p.A199V(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CTACAGGGCACGGGTGAGGGC 0.552 PLCG2 5336 broad.mit.edu 37 16 81954828 81954828 + Missense_Mutation SNP A A C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr16:81954828A>C uc002fgt.3 + 20 2439 c.2261A>C c.(2260-2262)gAc>gCc p.D754A PLCG2_uc010chg.1_Missense_Mutation_p.D754A NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 754 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TCCCTCTACGACGTCAGCAGA 0.428 OR1D4 653166 broad.mit.edu 37 17 3144469 3144469 + Missense_Mutation SNP C C A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr17:3144469C>A uc002fvf.3 + 0 500 c.500C>A c.(499-501)aCc>aAc p.T167N Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA. ACCAGGGTGACCTTCTGTGGG 0.542 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr17:7577094G>A uc002gim.2 - 7 1038 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). 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.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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) TCTGTGCGCCGGTCTCTCCCA 0.557 111 """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) TP53 7157 broad.mit.edu 37 17 7578211 7578214 + Frame_Shift_Del DEL CGAA CGAA - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr17:7578211_7578214delCGAA uc002gim.2 - 5 829_832 c.635_638delTTCG c.(634-639)tttcgafs p.F212fs TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.3_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.2_Frame_Shift_Del_p.F173fs|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 212 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.R213*(467)|p.R213L(73)|p.R213Q(56)|p.F212fs*3(23)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.R213P(10)|p.T211T(9)|p.0?(8)|p.R213G(8)|p.T211I(7)|p.?(5)|p.F212L(5)|p.R213R(5)|p.R120L(4)|p.F212S(4)|p.R81L(4)|p.T211N(4)|p.R213fs*35(4)|p.T211fs*4(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.R120Q(2)|p.F212I(2)|p.T211fs*5(2)|p.R81Q(2)|p.R213>L(2)|p.F212Y(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.T211A(2)|p.T211fs*28(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.F119fs*3(1)|p.R120fs*35(1)|p.F80fs*3(1)|p.R81G(1)|p.T211S(1)|p.T211P(1)|p.R209fs*6(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) CACACTATGTCGAAAAGTGTTTCT 0.534 111 """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) CDRT1 10626 broad.mit.edu 37 17 15517208 15517208 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr17:15517208C>T uc002gor.1 - 8 2077 c.1740G>A c.(1738-1740)ggG>ggA p.G580G CDRT1_uc002gov.4_Silent_p.G270G O95170 CDRT1_HUMAN Homo sapiens tripartite motif containing 16 (TRIM16), mRNA. 270 endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) ATTTGCTGAACCCAGAAGACA 0.488 KPNB1 3837 broad.mit.edu 37 17 45734349 45734349 + Frame_Shift_Del DEL A A - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr17:45734349delA uc002ilt.1 + 3 742 c.406delA c.(406-408)aatfs p.N136fs KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR NM_002265 NP_002256 Q14974 IMB1_HUMAN Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA. 136 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 GCTGGTGGCCAATGTCACAAA 0.483 RBBP8 5932 broad.mit.edu 37 18 20573449 20573449 + Silent SNP C C G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr18:20573449C>G uc002kua.3 + 10 1782 c.1659C>G c.(1657-1659)ccC>ccG p.P553P RBBP8_uc002ktw.3_Silent_p.P553P|RBBP8_uc002kty.3_Silent_p.P553P|RBBP8_uc002ktz.3_Silent_p.P553P|RBBP8_uc010xap.2_5'Flank|RBBP8_uc002ktx.1_Silent_p.P553P NM_203291 NP_976036 Q99708 COM1_HUMAN Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA. 553 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.P553P(3) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) CAGGGGAGCCCTGTTCACAGG 0.438 Homologous recombination PSMA8 143471 broad.mit.edu 37 18 23738210 23738210 + Splice_Site SNP T T A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr18:23738210T>A uc002kvq.3 + 4 609 c.495_splice c.e4+2 p.K165_splice PSMA8_uc002kvo.3_Splice_Site_p.K121_splice|PSMA8_uc002kvp.3_Splice_Site_p.K159_splice|PSMA8_uc002kvr.3_Splice_Site_p.K133_splice NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA. 165 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) GCTTGGAAGGTGAGTCATGAA 0.299 SERPINB3 6317 broad.mit.edu 37 18 61323223 61323223 + Missense_Mutation SNP C C T rs143634391 TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr18:61323223C>T uc002lji.3 - 7 985 c.841G>A c.(841-843)Gat>Aat p.D281N SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.D229N NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 281 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 AAGTGTAAATCGACACGTGTC 0.418 FARSA 2193 broad.mit.edu 37 19 13041262 13041262 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:13041262C>T uc002mvs.2 - 2 413 c.365G>A c.(364-366)gGg>gAg p.G122E FARSA_uc010xmv.1_Missense_Mutation_p.G122E NM_004461 NP_004452 Q9Y285 SYFA_HUMAN Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA. 122 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) CACCCGGGGCCCGTCAGCCGC 0.637 ZNF681 148213 broad.mit.edu 37 19 23927229 23927229 + Missense_Mutation SNP A A C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:23927229A>C uc002nrk.4 - 3 1265 c.1123T>G c.(1123-1125)Ttt>Gtt p.F375V ZNF681_uc002nrl.4_Missense_Mutation_p.F306V|ZNF681_uc002nrj.4_Missense_Mutation_p.F306V NM_138286 NP_612143 Q96N22 ZN681_HUMAN Homo sapiens zinc finger protein 681 (ZNF681), mRNA. 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GACTGCCTAAAGGCTTTGCCA 0.413 ZNF569 148266 broad.mit.edu 37 19 37905163 37905163 + Missense_Mutation SNP T T C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:37905163T>C uc002ogj.3 - 8 1401 c.469A>G c.(469-471)Aga>Gga p.R157G ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Missense_Mutation_p.R133G NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN Homo sapiens zinc finger protein 569 (ZNF569), mRNA. 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGATTGTGTCTGGAAGGGAAA 0.323 PRX 57716 broad.mit.edu 37 19 40903183 40903183 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:40903183C>T uc002onr.3 - 6 1345 c.1076G>A c.(1075-1077)cGc>cAc p.R359H PRX_uc002onq.3_Missense_Mutation_p.R220H|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 359 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AAAACTAAGGCGGGGCATCTT 0.637 SIGLEC8 27181 broad.mit.edu 37 19 51960834 51960834 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:51960834C>T uc002pwt.3 - 1 681 c.614G>A c.(613-615)cGc>cAc p.R205H SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 205 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CACTGAGGAGCGGGCAGTAGT 0.652 NLRP7 199713 broad.mit.edu 37 19 55451643 55451643 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:55451643C>T uc002qih.4 - 3 620 c.544G>A c.(544-546)Gtg>Atg p.V182M NLRP7_uc010esk.3_Missense_Mutation_p.V182M|NLRP7_uc002qig.4_Missense_Mutation_p.V182M|NLRP7_uc002qii.4_Missense_Mutation_p.V182M|NLRP7_uc010esl.3_Missense_Mutation_p.V210M NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 182 NACHT. ATP binding p.V182M(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GTTTTCCCCACGCCTGCGGGG 0.562 USP29 57663 broad.mit.edu 37 19 57641754 57641754 + Missense_Mutation SNP T T A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:57641754T>A uc002qny.3 + 3 2067 c.1711T>A c.(1711-1713)Tct>Act p.S571T USP29_uc021vci.1_Missense_Mutation_p.S571T NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 571 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAGATGATTTCTGAGATCAA 0.468 NBAS 51594 broad.mit.edu 37 2 15417158 15417158 + Missense_Mutation SNP G G T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:15417158G>T uc002rcc.1 - 42 5232 c.5206C>A c.(5206-5208)Cca>Aca p.P1736T NBAS_uc010exl.1_Missense_Mutation_p.P808T|NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 1736 p.P1736L(1) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AAGGCTTCTGGATCAGTCTTC 0.398 ASXL2 55252 broad.mit.edu 37 2 25965918 25965918 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:25965918C>T uc002rgs.2 - 11 3509 c.3288G>A c.(3286-3288)caG>caA p.Q1096Q ASXL2_uc002rgt.1_Silent_p.Q579Q NM_018263 NP_060733 Q76L83 ASXL2_HUMAN Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA. 1096 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTCTTCCAGCTGGAAACCTG 0.493 IL18R1 8809 broad.mit.edu 37 2 102984390 102984390 + Missense_Mutation SNP G G T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:102984390G>T uc002tbw.4 + 2 314 c.164G>T c.(163-165)aGc>aTc p.S55I IL18R1_uc010ywb.1_Missense_Mutation_p.S55I|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Missense_Mutation_p.S55I|IL18R1_uc010ywc.2_Missense_Mutation_p.S55I NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 55 Ig-like C2-type 1. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity p.S55N(2) breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 ACCACCAAAAGCTGGTACAAA 0.448 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A A G rs115341812 by1000genomes TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:114357557A>G uc010yxx.1 - 2 709 c.382T>C c.(382-384)Tag>Cag p.*128Q Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA. GCCTACTTCTAGTGAAACTGG 0.567 SCN7A 6332 broad.mit.edu 37 2 167263066 167263066 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:167263066C>T uc002udu.2 - 24 4203 c.4073G>A c.(4072-4074)cGt>cAt p.R1358H SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 1358 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TTTTCCAAGACGCAGCATGTG 0.468 ITGA6 3655 broad.mit.edu 37 2 173338970 173338970 + Silent SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:173338970G>A uc002uhp.1 + 5 1166 c.963G>A c.(961-963)gcG>gcA p.A321A ITGA6_uc010fqk.1_Silent_p.A207A|ITGA6_uc010zdy.1_Silent_p.A202A|ITGA6_uc002uho.1_Silent_p.A321A|ITGA6_uc010fqm.1_5'Flank NM_001079818 NP_001073286 P23229 ITA6_HUMAN Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA. 360 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) ATGATGTGGCGGTGGTGGACC 0.483 TTN 7273 broad.mit.edu 37 2 179528769 179528769 + Missense_Mutation SNP T T G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:179528769T>G uc021vsy.1 - MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Missense_Mutation_p.K259Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGGCTTTTTAGGAGGCACC 0.388 ALPP 250 broad.mit.edu 37 2 233246043 233246043 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:233246043C>T uc002vsq.3 + 9 1440 c.1275C>T c.(1273-1275)gaC>gaT p.D425D NM_001632 NP_001623 P05187 PPB1_HUMAN Homo sapiens alkaline phosphatase, placental (ALPP), mRNA. 425 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TGCTCAAGGACGGCGCCCGGC 0.697 COL6A3 1293 broad.mit.edu 37 2 238275874 238275874 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:238275874C>T uc002vwl.2 - 10 5241 c.4956G>A c.(4954-4956)agG>agA p.R1652R COL6A3_uc002vwo.2_Silent_p.R1446R|COL6A3_uc010znj.1_Silent_p.R1045R NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1652 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGAAACTGTCCCTCCTGAAGT 0.433 OR6B2 389090 broad.mit.edu 37 2 240969715 240969715 + Silent SNP G G T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:240969715G>T uc010zoc.2 - 0 132 c.132C>A c.(130-132)gcC>gcA p.A44A OR6B2_uc002vyr.3_Silent_p.A44A NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA. 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) TGAGGATGATGGCCAGGTTCT 0.577 SIRPB1 10326 broad.mit.edu 37 20 1600544 1600544 + Missense_Mutation SNP A A G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr20:1600544A>G uc010gai.3 - 0 146 c.47T>C c.(46-48)cTg>cCg p.L16P SIRPB1_uc002wfk.4_Missense_Mutation_p.L16P|SIRPB1_uc002wfl.4_Missense_Mutation_p.L16P NM_006065 NP_006056 O00241 SIRB1_HUMAN Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA. 16 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 TAGCGTCATCAGCAGGAAAGG 0.572 NINL 22981 broad.mit.edu 37 20 25457045 25457045 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr20:25457045G>A uc002wux.1 - 16 2956 c.2882C>T c.(2881-2883)cCc>cTc p.P961L NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN Homo sapiens ninein-like (NINL), mRNA. 961 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CGGCCTCAGGGGTGGCTCCCA 0.692 PPP1R16B 26051 broad.mit.edu 37 20 37547256 37547256 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr20:37547256G>A uc002xje.3 + 10 1840 c.1651G>A c.(1651-1653)Gcc>Acc p.A551T PPP1R16B_uc010ggc.3_Missense_Mutation_p.A509T NM_015568 NP_056383 Q96T49 PP16B_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA. 551 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) AAAGTTCAAGGCCCCCATAGA 0.577 BMP7 655 broad.mit.edu 37 20 55777537 55777537 + Silent SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr20:55777537G>A uc010gip.1 - 2 1283 c.754C>T c.(754-756)Ctg>Ttg p.L252L BMP7_uc002xyc.3_Silent_p.L252L NM_001719 NP_001710 P18075 BMP7_HUMAN Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA. 252 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) TCACCATCCAGCGTCTCCACC 0.607 CACNG2 10369 broad.mit.edu 37 22 36983511 36983511 + Splice_Site SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr22:36983511C>T uc003aps.2 - 2 364 c.295_splice c.e2+1 p.R99_splice NM_006078 NP_006069 Q9Y698 CCG2_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA. 99 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 TGTGCACTCACGGAGGAAATA 0.507 LINC00207 388910 broad.mit.edu 37 22 44967345 44967345 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr22:44967345C>T uc011aqg.2 + 3 c.348C>T LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA. lung(3) 3 TCTGGAGGGACGTCCTGTCAG 0.557 CHL1 10752 broad.mit.edu 37 3 424158 424158 + Missense_Mutation SNP G G T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:424158G>T uc003bot.3 + 18 2621 c.1979_splice c.e18-1 p.E660_splice CHL1_uc003bou.3_Splice_Site_p.E644_splice|CHL1_uc003bow.2_Splice_Site_p.E644_splice|CHL1_uc011asi.2_Splice_Site_p.E660_splice|BC065754_uc003box.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 644 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TACTACCAGAGTATATTGTTG 0.338 POLQ 10721 broad.mit.edu 37 3 121206922 121206922 + Missense_Mutation SNP T T G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:121206922T>G uc003eee.4 - 15 4985 c.4856A>C c.(4855-4857)aAa>aCa p.K1619T POLQ_uc003eed.3_Missense_Mutation_p.K791T NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 1619 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CCCAGTTAATTTTGATTTTTC 0.408 DNA polymerases (catalytic subunits) EFCAB12 90288 broad.mit.edu 37 3 129137225 129137225 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:129137225G>A uc003emg.3 - 2 716 c.553C>T c.(553-555)Cct>Tct p.P185S NM_207307 NP_997190 Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2) 23 GACAGGGCAGGGGGCTCGGGC 0.602 PRR23C 389152 broad.mit.edu 37 3 138762733 138762733 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:138762733G>A uc011bmt.1 - 0 1002 c.730C>T c.(730-732)Cgc>Tgc p.R244C NM_001134657 NP_001128129 Q6ZRP0 PR23C_HUMAN Homo sapiens proline rich 23C (PRR23C), mRNA. 244 Pro-rich. breast(2)|lung(7)|skin(2) 11 AGCTCCGGGCGCGCGTGGGGA 0.642 NMNAT3 349565 broad.mit.edu 37 3 139297857 139297857 + Silent SNP G G A rs79043406 byFrequency TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:139297857G>A uc003etj.3 - 1 190 c.150C>T c.(148-150)aaC>aaT p.N50N NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.N13N|NMNAT3_uc003etl.3_Non-coding_Transcript NM_178177 NP_835471 Q96T66 NMNA3_HUMAN Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA. 50 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 CATAGGTGTCGTTGACAGGAG 0.572 MCF2L2 23101 broad.mit.edu 37 3 182897228 182897228 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:182897228C>T uc003fli.1 - 29 3375 c.3285G>A c.(3283-3285)ggG>ggA p.G1095G NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA. 1095 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CAGCCGTCGCCCCCGCAGGAG 0.741 DRD5 1816 broad.mit.edu 37 4 9784506 9784506 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:9784506C>T uc003gmb.4 + 0 1249 c.853C>T c.(853-855)Cgc>Tgc p.R285C NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 285 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CACCAGCCTGCGCGCTTCCAT 0.627 PCDH7 5099 broad.mit.edu 37 4 30724196 30724196 + Silent SNP G G T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:30724196G>T uc003gsk.1 + 0 2160 c.1152G>T c.(1150-1152)acG>acT p.T384T PCDH7_uc011bxx.2_Silent_p.T384T|PCDH7_uc021xnd.1_Silent_p.T384T|PCDH7_uc021xnc.1_Silent_p.T384T NM_002589 NP_002580 O60245 PCDH7_HUMAN Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA. 384 Cadherin 3. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 TGCGCTTCACGGTCATGGCCC 0.652 OCIAD1 54940 broad.mit.edu 37 4 48852092 48852092 + Missense_Mutation SNP C C T rs150423557 TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:48852092C>T uc010igk.3 + 5 601 c.385C>T c.(385-387)Cca>Tca p.P129S OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyq.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyp.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyr.3_Missense_Mutation_p.P124S|OCIAD1_uc021xoc.1_Missense_Mutation_p.P124S NM_001168254 NP_001161726 Q9NX40 OCAD1_HUMAN Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA. 124 endosome protein binding breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2) 9 ACGATCTTCACCACCTGGGTA 0.373 MOB1B 92597 broad.mit.edu 37 4 71847741 71847741 + Silent SNP A A G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:71847741A>G uc011cba.2 + 6 927 c.633A>G c.(631-633)gaA>gaG p.E211E MOB1B_uc003hfw.3_Silent_p.E206E NM_001244766 NP_001231695 Q7L9L4 MOL1A_HUMAN Homo sapiens MOB kinase activator 1B (MOB1B), transcript variant 1, mRNA. 206 hippo signaling cascade|protein autophosphorylation cytoplasm|nucleus kinase activator activity|kinase binding|metal ion binding CACTCCAAGAACTGATTGAAA 0.353 SLC39A8 64116 broad.mit.edu 37 4 103184237 103184237 + Silent SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:103184237G>A uc003hwb.1 - 7 1876 c.1347C>T c.(1345-1347)ctC>ctT p.L449L SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Silent_p.L382L|SLC39A8_uc003hwc.2_Silent_p.L449L NM_022154 NP_071437 Q9C0K1 S39A8_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA. 449 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) ACAAGGTAATGAGTAGAATGG 0.348 TET2 54790 broad.mit.edu 37 4 106158045 106158045 + Missense_Mutation SNP G G C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:106158045G>C uc011cez.2 + 2 3414 c.3009G>C c.(3007-3009)aaG>aaC p.K1003N TET2_uc003hxk.3_Missense_Mutation_p.K982N|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.K982N|TET2_uc010ilp.2_Missense_Mutation_p.K982N|TET2_uc021xql.1_Missense_Mutation_p.K982N NM_001127208 NP_001120680 Q6N021 TET2_HUMAN Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA. 982 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.W1003*(2)|p.W1003fs*1(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GGCCAATTAAGGTGGAACCTG 0.473 """Mis N, F""" MDS EGF 1950 broad.mit.edu 37 4 110880565 110880565 + Silent SNP C C A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:110880565C>A uc003hzy.4 + 5 1490 c.1038C>A c.(1036-1038)gcC>gcA p.A346A EGF_uc011cfu.2_Intron|EGF_uc011cfv.2_Silent_p.A346A NM_001963 NP_001954 P01133 EGF_HUMAN Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA. 346 EGF-like 1. angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AGGGATACGCCCTAAGTCGAG 0.502 TBC1D9 23158 broad.mit.edu 37 4 141578365 141578365 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:141578365C>T uc010ioj.3 - 12 2495 c.2223G>A c.(2221-2223)gtG>gtA p.V741V NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA. 741 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CTTTATTGGTCACACTGTCTA 0.438 PCDHB5 26167 broad.mit.edu 37 5 140517019 140517019 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr5:140517019C>T uc003liq.3 + 0 2220 c.2003C>T c.(2002-2004)cCc>cTc p.P668L NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 668 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCTCCCAGCCCTACCTGCCG 0.701 C5orf25 375484 broad.mit.edu 37 5 175717198 175717198 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr5:175717198G>A uc003mds.4 + 3 1021 c.614G>A c.(613-615)cGa>cAa p.R205Q C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.R224Q|C5orf25_uc003mdu.1_Missense_Mutation_p.R116Q Q8NDZ2 CE025_HUMAN Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA. 205 Pro-rich. all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) TGCCCCCTGCGACCTTTGCCA 0.587 HK3 3101 broad.mit.edu 37 5 176311062 176311062 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr5:176311062C>T uc003mfa.3 - 13 2023 c.1931G>A c.(1930-1932)cGg>cAg p.R644Q HK3_uc003mez.3_Missense_Mutation_p.R200Q NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 644 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity p.R644W(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATGGCTTCCCGCAACAGACT 0.587 DSP 1832 broad.mit.edu 37 6 7585169 7585169 + Silent SNP T T A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:7585169T>A uc003mxp.1 + 23 7953 c.7674T>A c.(7672-7674)gcT>gcA p.A2558A DSP_uc003mxq.1_Silent_p.A1959A|DSP_uc021yle.1_Silent_p.A2115A NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2558 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTCAATTTGCTGACATGATCT 0.478 TULP1 7287 broad.mit.edu 37 6 35480607 35480607 + Missense_Mutation SNP T T C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:35480607T>C uc003okv.4 - 0 41 c.29A>G c.(28-30)gAg>gGg p.E10G TULP1_uc003okw.4_Missense_Mutation_p.E10G|TULP1_uc021yyx.1_Missense_Mutation_p.E10G|TULP1_uc021yyy.1_Missense_Mutation_p.E10G NM_003322 NP_003313 O00294 TULP1_HUMAN Homo sapiens tubby like protein 1 (TULP1), mRNA. 10 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 GGCCCACACCTCTCGGAGGGT 0.637 TCTE1 202500 broad.mit.edu 37 6 44255398 44255398 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:44255398C>T uc003oxi.2 - 1 321 c.165G>A c.(163-165)agG>agA p.R55R TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA. 55 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGATATTGGCCCTGGGATGTG 0.547 PTCHD4 442213 broad.mit.edu 37 6 47846160 47846160 + Missense_Mutation SNP A A G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:47846160A>G uc011dwm.2 - 2 2454 c.2420T>C c.(2419-2421)cTa>cCa p.L807P PTCHD4_uc011dwn.2_Missense_Mutation_p.L554P NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA. 807 integral to membrane hedgehog receptor activity GAAAAACGTTAGGAACACAGG 0.443 MLIP 90523 broad.mit.edu 37 6 53986287 53986287 + Missense_Mutation SNP T T A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:53986287T>A uc011dxa.2 + 1 172 c.139T>A c.(139-141)Ttt>Att p.F47I MLIP_uc003pcf.2_Missense_Mutation_p.F36I|MLIP_uc003pcg.4_Missense_Mutation_p.F36I|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 36 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 GATCTTCACATTTGTCCCCAC 0.413 LMBRD1 55788 broad.mit.edu 37 6 70411373 70411373 + Missense_Mutation SNP T T A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:70411373T>A uc003pfa.3 - 10 1321 c.1045A>T c.(1045-1047)Agt>Tgt p.S349C LMBRD1_uc003pez.3_Missense_Mutation_p.S276C|LMBRD1_uc010kal.3_Missense_Mutation_p.S276C|LMBRD1_uc003pfb.3_Non-coding_Transcript NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA. 349 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding p.S349C(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 AGTGGATTACTCAGGTTAGCT 0.294 SIM1 6492 broad.mit.edu 37 6 100838922 100838922 + Missense_Mutation SNP G G C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:100838922G>C uc003pqj.4 - 10 2083 c.1616C>G c.(1615-1617)cCt>cGt p.P539R SIM1_uc021zdg.1_Missense_Mutation_p.P539R|SIM1_uc010kcu.3_Missense_Mutation_p.P539R NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 539 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGCCGACCCAGGGTCTGGAGA 0.433 AIM1 202 broad.mit.edu 37 6 106968654 106968654 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:106968654C>T uc003prh.3 + 1 3259 c.2347C>T c.(2347-2349)Cgt>Tgt p.R783C NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 783 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GAGACCCAAACGTGCATCTGC 0.468 AKD1 221264 broad.mit.edu 37 6 109993127 109993127 + Frame_Shift_Del DEL T T - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:109993127delT uc003ptn.2 - 4 403 c.326delA c.(325-327)cacfs p.H109fs AKD1_uc003ptr.4_Frame_Shift_Del_p.H109fs|AKD1_uc003pts.2_Non-coding_Transcript NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA. 109 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2) 20 CATACCAAAGTGACAGACTTC 0.383 RFX6 222546 broad.mit.edu 37 6 117203548 117203548 + Frame_Shift_Del DEL C C - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:117203548delC uc003pxm.3 + 3 586 c.523delC c.(523-525)cccfs p.P175fs NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 175 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CCAGAAGTTTCCCCTCCTAAC 0.413 HOXA9 3205 broad.mit.edu 37 7 27204781 27204781 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:27204781G>A uc003syt.3 - 0 369 c.296C>T c.(295-297)gCg>gTg p.A99V HOXA9_uc022aar.1_Intron NM_152739 NP_689952 P31269 HXA9_HUMAN Homo sapiens homeobox A9 (HOXA9), mRNA. 99 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 CGCCGCCGCCGCCACGGGCGC 0.721 T """NUP98, MSI2""" AML* OGDH 4967 broad.mit.edu 37 7 44714133 44714133 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:44714133C>T uc003tln.3 + 6 1071 c.912C>T c.(910-912)taC>taT p.Y304Y OGDH_uc003tlm.3_Silent_p.Y304Y|OGDH_uc011kbx.2_Silent_p.Y300Y|OGDH_uc011kby.2_Silent_p.Y154Y|OGDH_uc003tlp.3_Silent_p.Y315Y|OGDH_uc011kbz.2_Silent_p.Y99Y|OGDH_uc003tlo.1_Silent_p.Y137Y NM_002541 NP_002532 Q02218 ODO1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 304 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GCGTGGACTACGTGATCATGG 0.562 EGFR 1956 broad.mit.edu 37 7 55233037 55233037 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:55233037C>T uc003tqk.3 + 14 2033 c.1787C>T c.(1786-1788)cCg>cTg p.P596L EGFR_uc003tqi.3_Missense_Mutation_p.P596L|EGFR_uc003tqj.3_Missense_Mutation_p.P596L|EGFR_uc022adm.1_Missense_Mutation_p.P596L|EGFR_uc010kzg.2_Missense_Mutation_p.P551L|EGFR_uc022adn.1_Missense_Mutation_p.P551L|EGFR_uc011kco.2_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 596 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.P596L(7) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAGACCTGCCCGGCAGGAGTC 0.567 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) NPTX2 4885 broad.mit.edu 37 7 98254345 98254345 + Missense_Mutation SNP T T A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:98254345T>A uc003upl.2 + 2 932 c.755T>A c.(754-756)aTc>aAc p.I252N NM_002523 NP_002514 P47972 NPTX2_HUMAN Homo sapiens neuronal pentraxin II (NPTX2), mRNA. 252 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GCCTTCACCATCTGCCTGTGG 0.592 LAMB4 22798 broad.mit.edu 37 7 107706294 107706294 + Missense_Mutation SNP G G A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:107706294G>A uc010ljo.1 - 20 2833 c.2749C>T c.(2749-2751)Ccc>Tcc p.P917S LAMB4_uc003vey.2_Missense_Mutation_p.P917S|LAMB4_uc010ljp.1_5'Flank NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 917 Laminin EGF-like 9. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TTGCTTGAGGGATCATCTGGA 0.428 MET 4233 broad.mit.edu 37 7 116398608 116398608 + Missense_Mutation SNP C C A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:116398608C>A uc003vij.3 + 8 2385 c.2198C>A c.(2197-2199)aCa>aAa p.T733K MET_uc022akk.1_Missense_Mutation_p.T733K|MET_uc010lkh.3_Missense_Mutation_p.T733K|MET_uc011kng.1_Missense_Mutation_p.T733K|MET_uc011knh.1_Missense_Mutation_p.T733K|MET_uc011kni.2_Missense_Mutation_p.T733K|MET_uc011knj.2_Missense_Mutation_p.T303K NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 733 IPT/TIG 2. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AACCGAGAGACAAGCATCTTC 0.368 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) MSR1 4481 broad.mit.edu 37 8 16021738 16021738 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr8:16021738C>T uc010lsu.3 - 4 771 c.707G>A c.(706-708)cGt>cAt p.R236H MSR1_uc003wwz.3_Missense_Mutation_p.R218H|MSR1_uc003wxa.3_Missense_Mutation_p.R218H|MSR1_uc003wxb.3_Missense_Mutation_p.R218H|MSR1_uc011kxz.2_5'UTR NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 218 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) ATTGTAAACACGCTCCTCTAA 0.338 ZNF395 55893 broad.mit.edu 37 8 28210755 28210755 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr8:28210755C>T uc003xgq.3 - 4 842 c.754G>A c.(754-756)Gat>Aat p.D252N ZNF395_uc003xgt.3_Missense_Mutation_p.D252N|ZNF395_uc003xgr.3_Missense_Mutation_p.D252N|ZNF395_uc003xgs.3_Missense_Mutation_p.D252N NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN Homo sapiens zinc finger protein 395 (ZNF395), mRNA. 252 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) AAGCCATGATCAGTTTGGGGA 0.592 FER1L6 654463 broad.mit.edu 37 8 125110059 125110059 + Silent SNP A A G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr8:125110059A>G uc003yqw.3 + 36 5024 c.4818A>G c.(4816-4818)gaA>gaG p.E1606E AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1606 C2 6. integral to membrane p.T1605N(2) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GGAACACTGAAGATGTCATTT 0.423 NFIB 4781 broad.mit.edu 37 9 14155894 14155894 + Splice_Site SNP T T A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:14155894T>A uc022bdo.1 - 4 1152 c.617_splice c.e4-1 p.G206_splice NFIB_uc003zld.3_Splice_Site|NFIB_uc003zlf.3_Splice_Site_p.G206_splice|NFIB_uc003zle.3_Splice_Site_p.G206_splice|NFIB_uc022bdp.1_Splice_Site_p.G232_splice|NFIB_uc011lmo.2_Splice_Site_p.G206_splice NM_001190737 NP_001177666 O00712 NFIB_HUMAN Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA. 206 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) CAAGGTAACCTGAAAATAAAT 0.274 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" ADAMTSL1 92949 broad.mit.edu 37 9 18777209 18777209 + Silent SNP C C G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:18777209C>G uc003zne.4 + 18 3134 c.2982C>G c.(2980-2982)acC>acG p.T994T NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 994 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CCCTGCAGACCCACAAACACC 0.687 FAM108B1 51104 broad.mit.edu 37 9 74485080 74485080 + Missense_Mutation SNP A A G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:74485080A>G uc004ail.3 - 2 1168 c.566T>C c.(565-567)aTt>aCt p.I189T FAM108B1_uc004aim.1_Missense_Mutation_p.I189T NM_016014 NP_057098 Q5VST6 F108B_HUMAN Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA. 189 extracellular region hydrolase activity p.V188D(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 11 AGAATGAAGAATAACAGCAGC 0.423 TMC1 117531 broad.mit.edu 37 9 75406910 75406910 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:75406910C>T uc004aiz.1 + 15 1873 c.1333C>T c.(1333-1335)Cgc>Tgc p.R445C TMC1_uc010moz.1_Missense_Mutation_p.R403C|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R299C|TMC1_uc010mpa.1_Missense_Mutation_p.R299C NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN Homo sapiens transmembrane channel-like 1 (TMC1), mRNA. 445 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GCTACTGGGACGCATTTTTGC 0.393 GRIN3A 116443 broad.mit.edu 37 9 104432454 104432454 + Missense_Mutation SNP T T G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:104432454T>G uc004bbp.2 - 2 2841 c.2240A>C c.(2239-2241)aAc>aCc p.N747T GRIN3A_uc004bbq.1_Missense_Mutation_p.N747T NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 747 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GGCCCAAAGGTTCATTAGAAA 0.433 MUSK 4593 broad.mit.edu 37 9 113445003 113445003 + Missense_Mutation SNP A A T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:113445003A>T uc022blv.1 + 1 263 c.129A>T c.(127-129)gaA>gaT p.E43D MUSK_uc022blt.1_Missense_Mutation_p.E43D|MUSK_uc004bez.2_Missense_Mutation_p.E43D|MUSK_uc022blu.1_Missense_Mutation_p.E43D NM_005592 NP_005583 O15146 MUSK_HUMAN Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA. 43 Ig-like 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TAGTTGAAGAAGTGGCTACTT 0.378 COL4A5 1287 broad.mit.edu 37 X 107827754 107827754 + Missense_Mutation SNP T T C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chrX:107827754T>C uc022ccg.1 + 18 1234 c.1032_splice c.e18+1 p.L344_splice COL4A5_uc004enz.1_Splice_Site_p.L344_splice|COL4A5_uc004eob.1_Splice_Site NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 344 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCTCCTGGACTTGTAAGTTTT 0.343 Alport syndrome with Diffuse Leiomyomatosis AFF2 2334 broad.mit.edu 37 X 147743983 147743983 + Silent SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chrX:147743983C>T uc004fcp.3 + 2 1214 c.735C>T c.(733-735)gcC>gcT p.A245A AFF2_uc004fco.3_Silent_p.A241A|AFF2_uc004fcq.3_Silent_p.A241A|AFF2_uc004fcr.3_Silent_p.A241A|AFF2_uc011mxb.2_Silent_p.A245A|AFF2_uc004fcs.3_Silent_p.A241A NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 245 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CTGAATTCGCCGTGCAAGCGC 0.458 MAGEA12 4111 broad.mit.edu 37 X 151900520 151900520 + Missense_Mutation SNP C C A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chrX:151900520C>A uc022chj.1 - 0 281 c.281G>T c.(280-282)gGg>gTg p.G94V MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.G94V|MAGEA12_uc022chi.1_Missense_Mutation_p.G94V|MAGEA12_uc004fgc.3_Missense_Mutation_p.G94V|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA. 94 breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGTGCTTGGCCCTTCCTGTTC 0.547 ARHGAP4 393 broad.mit.edu 37 X 153184317 153184317 + Missense_Mutation SNP C C T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chrX:153184317C>T uc004fjk.2 - 6 1059 c.1001G>A c.(1000-1002)cGc>cAc p.R334H ARHGAP4_uc011mzf.2_Missense_Mutation_p.R311H|ARHGAP4_uc004fjl.2_Missense_Mutation_p.R374H|ARHGAP4_uc010nup.2_Non-coding_Transcript NM_001666 NP_001657 P98171 RHG04_HUMAN Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA. 334 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTAGTCAAAGCGCAGCGGGGG 0.617