Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample LDLRAD1 388633 broad.mit.edu 37 1 54474773 54474773 + Missense_Mutation SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:54474773C>A ENST00000371360.1 - 6 517 c.500G>T c.(499-501)tGg>tTg p.W167L LDLRAD1_ENST00000420619.1_Missense_Mutation_p.W128L|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L NM_001010978.2 NP_001010978.2 Q5T700 LRAD1_HUMAN low density lipoprotein receptor class A domain containing 1 167 LDL-receptor class A 3; atypical. integral to membrane receptor activity large_intestine(3)|prostate(1)|skin(3) 7 ACAGCGCCACCACCCAGGGCC 0.592 3 158 --- --- --- --- LEPR 3953 broad.mit.edu 37 1 66081866 66081866 + Missense_Mutation SNP T T C TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:66081866T>C ENST00000349533.6 + 15 2356 c.2171T>C c.(2170-2172)gTt>gCt p.V724A LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000371059.3_Missense_Mutation_p.V724A|LEPR_ENST00000344610.8_Missense_Mutation_p.V724A NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 724 Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GGTGCTTCTGTTGCAAATTTT 0.388 4 56 --- --- --- --- LRRC8C 84230 broad.mit.edu 37 1 90178503 90178503 + Missense_Mutation SNP A A C TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:90178503A>C ENST00000370454.4 + 3 629 c.374A>C c.(373-375)aAg>aCg p.K125T LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron NM_032270.4 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 125 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) TGGTATGCCAAGTATTTCCCT 0.433 3 159 --- --- --- --- ALX3 257 broad.mit.edu 37 1 110607211 110607211 + Nonsense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr1:110607211G>A ENST00000369792.4 - 2 679 c.592C>T c.(592-594)Cag>Tag p.Q198* NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 198 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GCCCTCACCTGTACCCGGGCC 0.612 4 46 --- --- --- --- LTBP1 4052 broad.mit.edu 37 2 33488411 33488411 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr2:33488411G>A ENST00000404816.2 + 15 2922 c.2569G>A c.(2569-2571)Gct>Act p.A857T LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T|LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000404525.1_Missense_Mutation_p.A478T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A478T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|LTBP1_ENST00000407925.1_Missense_Mutation_p.A531T Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 857 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AGCTCCTGAAGCTTCTACGTC 0.428 13 89 --- --- --- --- ATL2 64225 broad.mit.edu 37 2 38546101 38546101 + Missense_Mutation SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr2:38546101C>T ENST00000378954.4 - 3 425 c.424G>A c.(424-426)Ggc>Agc p.G142S ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000332337.4_Missense_Mutation_p.G124S|ATL2_ENST00000402054.1_5'UTR NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 142 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 CTTTCACAGCCACCTCGCCAT 0.348 24 240 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168105325 168105325 + Missense_Mutation SNP A A T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr2:168105325A>T ENST00000409195.1 + 9 7512 c.7423A>T c.(7423-7425)Acg>Tcg p.T2475S XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2300 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAGTGAACACACGGAGACAAA 0.403 5 47 --- --- --- --- FBXL2 25827 broad.mit.edu 37 3 33414823 33414823 + Missense_Mutation SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr3:33414823C>A ENST00000484457.1 + 7 522 c.431C>A c.(430-432)aCa>aAa p.T144K FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000542085.1_5'UTR NM_012157.3 NP_036289.3 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 144 interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 GTGTCTATTACAAACAGCTCC 0.428 17 243 --- --- --- --- SMARCA5 8467 broad.mit.edu 37 4 144449073 144449073 + Missense_Mutation SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr4:144449073C>T ENST00000283131.3 + 7 1316 c.854C>T c.(853-855)aCa>aTa p.T285I NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 285 Helicase ATP-binding. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) GTATGTGTAACATCTTATGAA 0.323 18 44 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155253865 155253865 + Silent SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr4:155253865G>A ENST00000357232.4 - 9 1997 c.1998C>T c.(1996-1998)ccC>ccT p.P666P DCHS2_ENST00000339452.1_Silent_p.P1165P NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATCCGTCCTCGGGGATCCAAG 0.443 7 148 --- --- --- --- DDX60 55601 broad.mit.edu 37 4 169227602 169227602 + Silent SNP T T C TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr4:169227602T>C ENST00000393743.3 - 5 825 c.534A>G c.(532-534)caA>caG p.Q178Q NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 178 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CATCAGATTCTTGCCCTGAGG 0.398 6 47 --- --- --- --- ADAMTS12 81792 broad.mit.edu 37 5 33630978 33630978 + Silent SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr5:33630978C>T ENST00000504830.1 - 13 2264 c.1929G>A c.(1927-1929)caG>caA p.Q643Q ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 643 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCTCAGAAAACTGGCCATCTA 0.463 HNSCC(64;0.19) 8 48 --- --- --- --- CXXC5 51523 broad.mit.edu 37 5 139060933 139060933 + Nonsense_Mutation SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr5:139060933C>A ENST00000302517.3 + 2 1539 c.825C>A c.(823-825)tgC>tgA p.C275* CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275* NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 275 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCAACTGCGAGCAGTGCA 0.567 3 109 --- --- --- --- OR2H2 7932 broad.mit.edu 37 6 29555896 29555896 + Missense_Mutation SNP T T G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr6:29555896T>G ENST00000383640.2 + 1 214 c.175T>G c.(175-177)Ttt>Gtt p.F59V GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 59 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 TCCAATGTACTTTTTCCTCTC 0.527 15 108 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64404530 64404530 + Silent SNP G G A rs141874226 TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr6:64404530G>A ENST00000262043.3 + 6 2896 c.2556G>A c.(2554-2556)caG>caA p.Q852Q PHF3_ENST00000393387.1_Silent_p.Q852Q Q92576 PHF3_HUMAN PHD finger protein 3 852 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAAAATGGCAGCTAGCTCCTC 0.363 3 171 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100681323 100681323 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr7:100681323G>A ENST00000306151.4 + 3 6690 c.6626G>A c.(6625-6627)aGc>aAc p.S2209N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2209 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGGTACCAGCATGCCAACC 0.498 63 464 --- --- --- --- ADAM9 8754 broad.mit.edu 37 8 38880740 38880740 + Silent SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr8:38880740G>A ENST00000487273.2 + 9 888 c.810G>A c.(808-810)ctG>ctA p.L270L NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 270 Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) ATGGAAACCTGATCAACATAG 0.413 5 94 --- --- --- --- COL27A1 85301 broad.mit.edu 37 9 116968050 116968050 + Silent SNP A A G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr9:116968050A>G ENST00000356083.3 + 9 2572 c.2181A>G c.(2179-2181)ggA>ggG p.G727G NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 727 Collagen-like 2.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GGCAGCCAGGACCTGAGGGCA 0.587 22 55 --- --- --- --- OR5D18 219438 broad.mit.edu 37 11 55587340 55587340 + Missense_Mutation SNP G G A rs142474714 byFrequency TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:55587340G>A ENST00000333976.4 + 1 255 c.235G>A c.(235-237)Gct>Act p.A79T NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A79S(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CTCCATCATTGCTCCCAAGAT 0.408 17 218 --- --- --- --- ZP1 22917 broad.mit.edu 37 11 60640728 60640728 + Silent SNP C C T rs151198562 TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:60640728C>T ENST00000278853.5 + 7 1206 c.1206C>T c.(1204-1206)ccC>ccT p.P402P NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 402 ZP. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix p.P402P(1) breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGACCCAGCCCGGCCCCCTGC 0.602 33 184 --- --- --- --- DHCR7 1717 broad.mit.edu 37 11 71153385 71153385 + Silent SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:71153385C>A ENST00000355527.3 - 5 612 c.336G>T c.(334-336)acG>acT p.T112T DHCR7_ENST00000407721.2_Silent_p.T112T NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 112 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CAGGGAGAGACGTGTACAGAA 0.587 Smith-Lemli-Opitz syndrome 5 25 --- --- --- --- SCN2B 6327 broad.mit.edu 37 11 118039353 118039353 + Nonsense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr11:118039353G>A ENST00000278947.5 - 2 425 c.184C>T c.(184-186)Cag>Tag p.Q62* NM_004588.4 NP_004579.1 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta subunit 62 Ig-like C2-type. synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) AGGGAGAACTGTTTGTGGTTC 0.592 7 348 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39357215 39357215 + Missense_Mutation SNP G G T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr13:39357215G>T ENST00000280481.7 + 5 5866 c.5650G>T c.(5650-5652)Gtg>Ttg p.V1884L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1884 Calx-beta 2. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGAGCCAACTGTGTTTATTCC 0.408 4 120 --- --- --- --- OLFM4 10562 broad.mit.edu 37 13 53624777 53624777 + Missense_Mutation SNP C C G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr13:53624777C>G ENST00000219022.2 + 5 1482 c.1404C>G c.(1402-1404)gaC>gaG p.D468E NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 468 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GCAAACTAGACATTGTAATGC 0.383 21 33 --- --- --- --- RLTPR 146206 broad.mit.edu 37 16 67685160 67685160 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr16:67685160G>A ENST00000334583.6 + 23 2583 c.2255G>A c.(2254-2256)gGt>gAt p.G752D RLTPR_ENST00000545661.1_Missense_Mutation_p.G716D NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 752 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGGCCCCAGGGTGAAGCCGCT 0.602 5 60 --- --- --- --- ASIC2 40 broad.mit.edu 37 17 31355331 31355331 + Missense_Mutation SNP G G A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr17:31355331G>A ENST00000225823.2 - 4 1939 c.1067C>T c.(1066-1068)aCc>aTc p.T356I ASIC2_ENST00000359872.6_Missense_Mutation_p.T305I|ASIC2_ENST00000448983.1_5'UTR NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 305 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCTACAGGCGGTGATGCTGTA 0.582 3 64 --- --- --- --- ZNF652 22834 broad.mit.edu 37 17 47394309 47394309 + Missense_Mutation SNP A A G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr17:47394309A>G ENST00000362063.2 - 2 1097 c.779T>C c.(778-780)cTg>cCg p.L260P ZNF652_ENST00000430262.2_Missense_Mutation_p.L260P NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) GTGCTTCTCCAGGTACCAGCG 0.478 10 59 --- --- --- --- GPR108 56927 broad.mit.edu 37 19 6731293 6731293 + Splice_Site SNP C C A TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr19:6731293C>A ENST00000264080.7 - 16 1377 c.1351G>T c.(1351-1353)Gtc>Ttc p.V451F GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Splice_Site_p.V209F NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 451 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 TAGCAGATGACCTGCAGGGGC 0.677 9 44 --- --- --- --- HAO1 54363 broad.mit.edu 37 20 7875791 7875791 + Missense_Mutation SNP C C T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chr20:7875791C>T ENST00000378789.3 - 5 853 c.802G>A c.(802-804)Gtg>Atg p.V268M NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 268 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTGGCTGGCACCCCATCGAGT 0.488 35 107 --- --- --- --- FAM47A 158724 broad.mit.edu 37 X 34150170 34150170 + Missense_Mutation SNP A A T TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chrX:34150170A>T ENST00000346193.3 - 1 277 c.226T>A c.(226-228)Ttt>Att p.F76I NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 76 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGGAGTAAAAACTCGTCACGG 0.532 7 28 --- --- --- --- GPRASP2 114928 broad.mit.edu 37 X 101972035 101972035 + Silent SNP T T G TCGA-EJ-7321-01A-31D-2260-08 TCGA-EJ-7321-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaf38195-2e17-457f-bb4c-a8a44fc5e877 7132d9c7-5196-48c8-a3ce-fa2f34c7be74 g.chrX:101972035T>G ENST00000543253.1 + 5 3157 c.2238T>G c.(2236-2238)tcT>tcG p.S746S GPRASP2_ENST00000535209.1_Silent_p.S746S|GPRASP2_ENST00000332262.5_Silent_p.S746S NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 TGAATTTGTCTGAAAATCCTG 0.368 5 53 --- --- --- ---