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 PHACTR4 65979 broad.mit.edu 37 1 28800433 28800433 + Missense_Mutation SNP G G C TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr1:28800433G>C ENST00000373839.3 + 7 1452 c.1191G>C c.(1189-1191)agG>agC p.R397S PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R407S NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 397 Pro-rich. actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCCCCAAGAGGATACTGGACC 0.512 6 37 --- --- --- --- HFM1 164045 broad.mit.edu 37 1 91846485 91846485 + Missense_Mutation SNP G G A TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr1:91846485G>A ENST00000370425.3 - 7 955 c.857C>T c.(856-858)tCc>tTc p.S286F HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 286 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AAAGGCCTTGGACTGTATATA 0.279 9 45 --- --- --- --- HFM1 164045 broad.mit.edu 37 1 91846486 91846486 + Missense_Mutation SNP A A C TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr1:91846486A>C ENST00000370425.3 - 7 954 c.856T>G c.(856-858)Tcc>Gcc p.S286A HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 286 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AAGGCCTTGGACTGTATATAG 0.279 9 45 --- --- --- --- HRNR 388697 broad.mit.edu 37 1 152187688 152187688 + Silent SNP T T C TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr1:152187688T>C ENST00000368801.2 - 3 6492 c.6417A>G c.(6415-6417)agA>agG p.R2139R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2139 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTGTCCTGATCTAGAGCCGT 0.577 8 837 --- --- --- --- RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373 6 312 --- --- --- --- NPHP1 4867 broad.mit.edu 37 2 110922636 110922636 + Nonsense_Mutation SNP T T A TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr2:110922636T>A ENST00000316534.4 - 7 794 c.721A>T c.(721-723)Aag>Tag p.K241* NPHP1_ENST00000445609.2_Nonsense_Mutation_p.K241*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.K179*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.K241*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.K241* O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 241 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 TACCTTTGCTTAACTTCTGCT 0.348 14 52 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141108382 141108382 + Missense_Mutation SNP G G T TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr2:141108382G>T ENST00000389484.3 - 77 12847 c.11876C>A c.(11875-11877)gCa>gAa p.A3959E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3959 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCACTGTTTGCTTGCCTTTT 0.318 TSP Lung(27;0.18) 7 38 --- --- --- --- ZNF142 7701 broad.mit.edu 37 2 219508714 219508714 + Missense_Mutation SNP G G C TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr2:219508714G>C ENST00000411696.2 - 7 3304 c.2525C>G c.(2524-2526)cCt>cGt p.P842R ZNF142_ENST00000449707.1_Missense_Mutation_p.P842R P52746 ZN142_HUMAN zinc finger protein 142 842 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGTGATAAAAGGGCAGTGTGG 0.627 19 58 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073272 134073272 + Missense_Mutation SNP G G C TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr4:134073272G>C ENST00000264360.5 + 1 2803 c.1977G>C c.(1975-1977)gaG>gaC p.E659D NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TGGTGATCGAGGTGCGCGACC 0.711 6 23 --- --- --- --- FGA 2243 broad.mit.edu 37 4 155507041 155507041 + Missense_Mutation SNP G G T TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr4:155507041G>T ENST00000302053.3 - 5 1618 c.1540C>A c.(1540-1542)Cct>Act p.P514T FGA_ENST00000403106.3_Missense_Mutation_p.P514T NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 514 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GCTTCATCAGGGTGCCTATGG 0.498 21 69 --- --- --- --- FSTL5 56884 broad.mit.edu 37 4 162307016 162307016 + Nonsense_Mutation SNP G G T TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr4:162307016G>T ENST00000306100.5 - 16 2863 c.2427C>A c.(2425-2427)taC>taA p.Y809* FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Y808*|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Y808*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Y799* NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 809 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GTGTCATCAGGTATTGACCAA 0.418 33 105 --- --- --- --- COL28A1 340267 broad.mit.edu 37 7 7514264 7514264 + Missense_Mutation SNP C C T TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr7:7514264C>T ENST00000399429.3 - 15 1410 c.1270G>A c.(1270-1272)Gga>Aga p.G424R NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 424 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCTTGTAATCCCTGTGGGCCA 0.393 5 44 --- --- --- --- MYPN 84665 broad.mit.edu 37 10 69881645 69881645 + Silent SNP T T C TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr10:69881645T>C ENST00000358913.5 + 2 938 c.450T>C c.(448-450)ttT>ttC p.F150F MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.F150F|MYPN_ENST00000540630.1_Silent_p.F150F NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 150 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AAAAAGTATTTTTAAATAAGG 0.458 5 29 --- --- --- --- MS4A14 84689 broad.mit.edu 37 11 60183438 60183438 + Missense_Mutation SNP C C A rs150784858 TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr11:60183438C>A ENST00000300187.6 + 5 1274 c.997C>A c.(997-999)Caa>Aaa p.Q333K MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.Q366K|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q316K|MS4A14_ENST00000531787.1_Missense_Mutation_p.Q221K NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 333 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 CCTGTCAGAACAAACCATGCC 0.453 7 32 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123901102 123901102 + Missense_Mutation SNP A A G TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr11:123901102A>G ENST00000431524.1 + 1 806 c.773A>G c.(772-774)tAc>tGc p.Y258C NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CTTTTCATTTACCTGAGGCCA 0.557 19 93 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39263438 39263438 + Silent SNP C C T TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr13:39263438C>T ENST00000280481.7 + 1 2173 c.1957C>T c.(1957-1959)Ctg>Ttg p.L653L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 653 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) AGAGGGCAGGCTGTTCTATAG 0.532 7 24 --- --- --- --- PCDH17 27253 broad.mit.edu 37 13 58299274 58299274 + Missense_Mutation SNP G G A TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr13:58299274G>A ENST00000377918.3 + 4 3352 c.3326G>A c.(3325-3327)cGg>cAg p.R1109Q NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1109 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AGAGCCAGCCGGGATTCCAGT 0.517 21 80 --- --- --- --- SCEL 8796 broad.mit.edu 37 13 78167665 78167665 + Missense_Mutation SNP A A G TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr13:78167665A>G ENST00000535157.1 + 11 813 c.643A>G c.(643-645)Aac>Gac p.N215D SCEL_ENST00000377246.3_Intron|SCEL_ENST00000349847.3_Missense_Mutation_p.N237D NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 237 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) GGATCTTGATAACATCGTCAA 0.373 5 34 --- --- --- --- PDPR 55066 broad.mit.edu 37 16 70176575 70176575 + Missense_Mutation SNP A A G rs2549566 by1000genomes TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr16:70176575A>G ENST00000288050.4 + 13 2548 c.1591A>G c.(1591-1593)Aag>Gag p.K531E PDPR_ENST00000398122.3_Missense_Mutation_p.K431E|PDPR_ENST00000568530.1_Missense_Mutation_p.K531E|PDPR_ENST00000562100.1_3'UTR NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 531 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CTCTTTCACAAAGTTTGAGAT 0.353 4 73 --- --- --- --- KRT38 8687 broad.mit.edu 37 17 39595066 39595066 + Silent SNP A A G TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr17:39595066A>G ENST00000246646.3 - 4 776 c.777T>C c.(775-777)atT>atC p.I259I NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 259 Linker 12.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) TGTCCAGCTCAATCCGGAGCT 0.567 4 90 --- --- --- --- METRNL 284207 broad.mit.edu 37 17 81042876 81042876 + Missense_Mutation SNP G G T TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr17:81042876G>T ENST00000320095.7 + 2 358 c.233G>T c.(232-234)gGt>gTt p.G78V METRNL_ENST00000570778.1_5'UTR|METRNL_ENST00000571814.1_5'UTR NM_001004431.1 NP_001004431.1 Q641Q3 METRL_HUMAN meteorin, glial cell differentiation regulator-like 78 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) TGTGCGGCGGGTGCCGTGGAG 0.642 12 42 --- --- --- --- TSHZ1 10194 broad.mit.edu 37 18 73000203 73000203 + Silent SNP G G A TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr18:73000203G>A ENST00000322038.5 + 2 3290 c.2706G>A c.(2704-2706)gtG>gtA p.V902V TSHZ1_ENST00000580243.1_Silent_p.V947V NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 947 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) TGGCCAATGTGAAGTACCAGT 0.522 7 26 --- --- --- --- ZNF554 115196 broad.mit.edu 37 19 2833764 2833764 + Silent SNP A A T TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr19:2833764A>T ENST00000317243.5 + 5 729 c.531A>T c.(529-531)atA>atT p.I177I ZNF554_ENST00000591265.1_3'UTR NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TAAATATGATAAAGCTTATCA 0.463 3 58 --- --- --- --- SHKBP1 92799 broad.mit.edu 37 19 41096646 41096646 + Silent SNP G G T TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chr19:41096646G>T ENST00000291842.5 + 17 1828 c.1779G>T c.(1777-1779)ctG>ctT p.L593L SHKBP1_ENST00000600733.1_Silent_p.L568L NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 593 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGGTGGCCTGACGGAGCAAG 0.662 4 42 --- --- --- --- ARSF 416 broad.mit.edu 37 X 2990116 2990116 + Missense_Mutation SNP C C A TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chrX:2990116C>A ENST00000381127.1 + 3 282 c.61C>A c.(61-63)Cag>Aag p.Q21K ARSF_ENST00000537104.1_Missense_Mutation_p.Q21K|ARSF_ENST00000359361.2_Missense_Mutation_p.Q21K NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 21 CQAHRVHDDK -> WPGHTGCMTTR (in Ref. 1; CAA66462). extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GAACACATGCCAGGCACACAG 0.493 10 12 --- --- --- --- TENM1 10178 broad.mit.edu 37 X 123514728 123514728 + Silent SNP C C T TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b84007-f6ea-43a8-92a8-cf0172b85790 66199aec-eed9-46c6-bbb4-e5048ee23e00 g.chrX:123514728C>T ENST00000422452.2 - 32 7920 c.7857G>A c.(7855-7857)ttG>ttA p.L2619L STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.L2612L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TCCTCCCATTCAACACAGAAG 0.522 15 20 --- --- --- ---