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 HIPK1 204851 broad.mit.edu 37 1 114483187 114483187 + Missense_Mutation SNP A A G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:114483187A>G ENST00000369558.1 + 2 414 c.182A>G c.(181-183)cAg>cGg p.Q61R HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q61R Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.Q61R(3) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTCTCACCAGGTAGCAAAT 0.537 15 227 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158577155 158577155 + Missense_Mutation SNP G G T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:158577155G>T ENST00000361284.1 + 1 927 c.927G>T c.(925-927)ttG>ttT p.L309F NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L309F(1) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GAGGGAGATTGCTGGGTAAAG 0.478 11 241 --- --- --- --- BRINP3 339479 broad.mit.edu 37 1 190129810 190129810 + Missense_Mutation SNP A A G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:190129810A>G ENST00000367462.3 - 7 1403 c.1172T>C c.(1171-1173)cTg>cCg p.L391P BRINP3_ENST00000534846.1_Missense_Mutation_p.L289P NM_199051.1 NP_950252.1 bone morphogenetic protein/retinoic acid inducible neural-specific 3 391 p.L391P(1) TTGTCTTGGCAGGCTGATGAG 0.373 13 135 --- --- --- --- OR2B11 127623 broad.mit.edu 37 1 247614412 247614412 + Silent SNP G G T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:247614412G>T ENST00000318749.6 - 1 896 c.873C>A c.(871-873)ccC>ccA p.P291P NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P291P(2) endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGTAGGTGAAGGGATTGAGAG 0.488 6 423 --- --- --- --- OR2T3 343173 broad.mit.edu 37 1 248637353 248637353 + Missense_Mutation SNP T T A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:248637353T>A ENST00000359594.2 + 1 727 c.702T>A c.(700-702)aaT>aaA p.N234K NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N234K(1) breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 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) ACAGGATGAATTCTGCCGCCG 0.562 13 143 --- --- --- --- NBAS 51594 broad.mit.edu 37 2 15378658 15378658 + Silent SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:15378658C>T ENST00000281513.5 - 45 5902 c.5877G>A c.(5875-5877)gaG>gaA p.E1959E NBAS_ENST00000441750.1_Silent_p.E1839E NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1959 p.E1959E(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 CAAGTGATTTCTCCAGATGAT 0.408 9 110 --- --- --- --- SLC35F5 80255 broad.mit.edu 37 2 114501368 114501368 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:114501368C>T ENST00000245680.2 - 6 897 c.484G>A c.(484-486)Gaa>Aaa p.E162K SLC35F5_ENST00000409342.1_Missense_Mutation_p.E156K NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 162 transport integral to membrane p.E162K(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 TACAGAGGTTCACTCTGGAAT 0.323 69 196 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179580256 179580256 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:179580256C>T ENST00000589042.1 - 89 26109 c.25885G>A c.(25885-25887)Ggc>Agc p.G8629S TTN_ENST00000342992.6_Missense_Mutation_p.G7385S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8312S|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8312 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G7385S(1) 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) CTGGCACTGCCTGCTGCATTG 0.478 12 85 --- --- --- --- WDFY1 57590 broad.mit.edu 37 2 224749392 224749392 + Missense_Mutation SNP C C A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:224749392C>A ENST00000233055.4 - 9 1008 c.906G>T c.(904-906)tgG>tgT p.W302C NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 302 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding p.W302C(1) NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) TCTTGGTGTCCCACATCTGCT 0.463 5 366 --- --- --- --- RTP3 83597 broad.mit.edu 37 3 46542309 46542309 + Missense_Mutation SNP A A G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:46542309A>G ENST00000296142.3 + 2 1191 c.619A>G c.(619-621)Atc>Gtc p.I207V NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 207 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding p.I207V(1) endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CCAAAACCACATCTGTAGGAA 0.433 34 151 --- --- --- --- PPP2R3A 5523 broad.mit.edu 37 3 135801246 135801246 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:135801246C>T ENST00000264977.3 + 8 3388 c.2771C>T c.(2770-2772)tCt>tTt p.S924F PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S303F|PPP2R3A_ENST00000492624.2_3'UTR NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 924 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity p.S303F(1)|p.S924F(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GCCGATCTGTCTCGATACAAT 0.348 12 166 --- --- --- --- HLTF 6596 broad.mit.edu 37 3 148760005 148760005 + Silent SNP A A T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:148760005A>T ENST00000310053.5 - 19 2338 c.2145T>A c.(2143-2145)atT>atA p.I715I HLTF_ENST00000494055.1_Silent_p.I715I|HLTF_ENST00000465259.1_Silent_p.I714I|HLTF_ENST00000392912.2_Silent_p.I715I NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 715 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding p.I715I(1) breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TATGGCAACAAATTTGCCGCA 0.373 42 113 --- --- --- --- AADAC 13 broad.mit.edu 37 3 151545615 151545615 + Silent SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:151545615C>T ENST00000232892.7 + 5 981 c.855C>T c.(853-855)tcC>tcT p.S285S RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity p.S285S(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) ATTGGAGTTCCCTGCTCCCTG 0.383 9 200 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126371608 126371608 + Nonsense_Mutation SNP T T A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr4:126371608T>A ENST00000394329.3 + 9 9450 c.9437T>A c.(9436-9438)tTa>tAa p.L3146* FAT4_ENST00000335110.5_Nonsense_Mutation_p.L1444* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3146 Cadherin 30. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L3146*(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACAGGTATATTAACACTAGCC 0.398 4 145 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126371768 126371768 + Silent SNP T T C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr4:126371768T>C ENST00000394329.3 + 9 9610 c.9597T>C c.(9595-9597)taT>taC p.Y3199Y FAT4_ENST00000335110.5_Silent_p.Y1497Y NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3199 Cadherin 31. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Y3199Y(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGATGACTATTTCCCTACTG 0.418 9 141 --- --- --- --- FNIP2 57600 broad.mit.edu 37 4 159790453 159790453 + Nonsense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr4:159790453C>T ENST00000264433.6 + 13 2740 c.2665C>T c.(2665-2667)Cga>Tga p.R889* FNIP2_ENST00000379346.3_Nonsense_Mutation_p.R912* NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 889 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding p.R215*(1)|p.R889*(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) AGACATTCCCCGAAATGAAAG 0.592 3 27 --- --- --- --- FCHO2 115548 broad.mit.edu 37 5 72370579 72370579 + Silent SNP G G T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr5:72370579G>T ENST00000430046.2 + 20 1706 c.1590G>T c.(1588-1590)cgG>cgT p.R530R FCHO2_ENST00000341845.6_Silent_p.R530R|FCHO2_ENST00000512348.1_Silent_p.R497R NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 530 p.R530R(2) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) GTGTGTCACGGGGTCCCAGCC 0.408 3 37 --- --- --- --- OR2V2 285659 broad.mit.edu 37 5 180582179 180582179 + Silent SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr5:180582179G>A ENST00000328275.1 + 1 237 c.237G>A c.(235-237)gtG>gtA p.V79V NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V79V(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTACCAATGTGCCAAAGATGG 0.517 14 245 --- --- --- --- CDC40 51362 broad.mit.edu 37 6 110547378 110547378 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr6:110547378C>T ENST00000368932.1 + 14 1450 c.1349C>T c.(1348-1350)cCt>cTt p.P450L CDC40_ENST00000445340.2_Intron|CDC40_ENST00000307731.1_Missense_Mutation_p.P450L|CDC40_ENST00000368930.1_Missense_Mutation_p.P450L O60508 PRP17_HUMAN cell division cycle 40 450 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm p.P450L(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) AGGGATATCCCTGTGGATTTC 0.323 25 88 --- --- --- --- TPST1 8460 broad.mit.edu 37 7 65751577 65751577 + Missense_Mutation SNP G G A rs142506783 TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr7:65751577G>A ENST00000304842.5 + 3 1350 c.925G>A c.(925-927)Gat>Aat p.D309N TPST1_ENST00000480281.1_3'UTR NM_003596.3 NP_003587.1 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 309 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity p.D309N(1) NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 GATACCGCCAGATGTTTTACA 0.428 9 106 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77567152 77567152 + Silent SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr7:77567152C>T ENST00000416283.2 + 11 1488 c.1362C>T c.(1360-1362)aaC>aaT p.N454N PHTF2_ENST00000275575.7_Silent_p.N450N|PHTF2_ENST00000424760.1_Silent_p.N450N|PHTF2_ENST00000248550.7_Silent_p.N488N|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Silent_p.N450N|PHTF2_ENST00000422959.2_Silent_p.N454N NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 TGATAATGAACAGAGTGAGTT 0.308 6 55 --- --- --- --- ERMP1 79956 broad.mit.edu 37 9 5798848 5798848 + Missense_Mutation SNP A A C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr9:5798848A>C ENST00000339450.5 - 12 2317 c.2228T>G c.(2227-2229)cTt>cGt p.L743R ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.L321R NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 743 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity p.L743R(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) AAAACCACAAAGAGGTGCATT 0.403 5 72 --- --- --- --- GPR123 84435 broad.mit.edu 37 10 134942117 134942117 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr10:134942117C>T ENST00000607359.1 + 16 2942 c.2942C>T c.(2941-2943)aCg>aTg p.T981M GPR123_ENST00000392606.2_Missense_Mutation_p.T165M|GPR123_ENST00000392607.3_Missense_Mutation_p.T262M Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 262 integral to membrane|plasma membrane G-protein coupled receptor activity p.T262M(1)|p.T981M(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GCCGCCTTCACGCTGTTCCTG 0.692 5 13 --- --- --- --- OR51F1 256892 broad.mit.edu 37 11 4791052 4791052 + Silent SNP A A T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr11:4791052A>T ENST00000380383.1 - 1 116 c.117T>A c.(115-117)ccT>ccA p.P39P OR51F1_ENST00000343430.3_Silent_p.P32P|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 32 integral to membrane olfactory receptor activity p.P32P(1) kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) AACAACAGAAAGGAATGGAGA 0.453 11 41 --- --- --- --- SIK3 23387 broad.mit.edu 37 11 116729309 116729309 + Missense_Mutation SNP T T C rs141671439 by1000genomes TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr11:116729309T>C ENST00000375300.1 - 20 2733 c.2728A>G c.(2728-2730)Aca>Gca p.T910A SIK3_ENST00000434315.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.T852A|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000488337.1_Intron Q9Y2K2 SIK3_HUMAN SIK family kinase 3 852 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.T958A(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CCCACTCCTGTTGAAGGGCTG 0.582 45 133 --- --- --- --- SIK3 23387 broad.mit.edu 37 11 116767026 116767026 + Missense_Mutation SNP T T C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr11:116767026T>C ENST00000375300.1 - 6 813 c.808A>G c.(808-810)Aat>Gat p.N270D SIK3_ENST00000434315.2_Missense_Mutation_p.N111D|SIK3_ENST00000292055.4_Missense_Mutation_p.N212D|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000446921.2_Missense_Mutation_p.N270D Q9Y2K2 SIK3_HUMAN SIK family kinase 3 212 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.N270D(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GCCCGCAGATTCTGCAGTGTG 0.507 6 116 --- --- --- --- PTPN6 5777 broad.mit.edu 37 12 7061281 7061281 + Silent SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr12:7061281C>T ENST00000456013.1 + 3 509 c.267C>T c.(265-267)cgC>cgT p.R89R PTPN6_ENST00000399448.1_Silent_p.R91R|PTPN6_ENST00000318974.9_Silent_p.R89R|PTPN6_ENST00000447931.2_Silent_p.R50R NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 89 SH2 1. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity p.R89R(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 TGCAGGACCGCGACGGCACCA 0.587 12 132 --- --- --- --- SLCO1C1 53919 broad.mit.edu 37 12 20890188 20890188 + Missense_Mutation SNP C C A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr12:20890188C>A ENST00000381552.1 + 11 1898 c.1530C>A c.(1528-1530)aaC>aaA p.N510K SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.N510K Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 510 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.N510K(1) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AAACCTCCAACAGGAGTGGAA 0.413 14 100 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105413230 105413230 + Missense_Mutation SNP T T G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr14:105413230T>G ENST00000333244.5 - 7 8677 c.8558A>C c.(8557-8559)cAa>cCa p.Q2853P AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2853 nucleus p.Q2853P(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AAGATCCCCTTGCATGGAGGG 0.622 19 230 --- --- --- --- CAPN3 825 broad.mit.edu 37 15 42681231 42681231 + Missense_Mutation SNP T T G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr15:42681231T>G ENST00000397163.3 + 5 957 c.738T>G c.(736-738)agT>agG p.S246R CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R|CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 246 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity p.S246R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) ATGCTCCTAGTGACATGTACA 0.542 17 194 --- --- --- --- SLC12A1 6557 broad.mit.edu 37 15 48580269 48580269 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr15:48580269C>T ENST00000396577.3 + 22 2874 c.2659C>T c.(2659-2661)Cat>Tat p.H887Y SLC12A1_ENST00000558405.1_Missense_Mutation_p.H887Y|SLC12A1_ENST00000380993.3_Missense_Mutation_p.H887Y NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 887 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity p.H887Y(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CCAGTCGATGCATGTGGGAGA 0.403 7 25 --- --- --- --- GP2 2813 broad.mit.edu 37 16 20335248 20335248 + Missense_Mutation SNP C C A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr16:20335248C>A ENST00000302555.5 - 3 574 c.425G>T c.(424-426)aGt>aTt p.S142I GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.S142I|GP2_ENST00000381360.5_Intron P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 142 anchored to membrane|extracellular region|plasma membrane p.S142I(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GCAGTTGCCACTCCAATGGGC 0.592 3 83 --- --- --- --- TOM1L1 10040 broad.mit.edu 37 17 53007460 53007460 + Missense_Mutation SNP G G T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr17:53007460G>T ENST00000575882.1 + 8 1100 c.747G>T c.(745-747)atG>atT p.M249I TOM1L1_ENST00000348161.4_Missense_Mutation_p.M172I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 249 GAT. intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding p.M249I(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 GTCGGGAGATGCAGGAGAGGA 0.418 29 111 --- --- --- --- DSEL 92126 broad.mit.edu 37 18 65179121 65179121 + Missense_Mutation SNP A A G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr18:65179121A>G ENST00000310045.7 - 2 4228 c.2755T>C c.(2755-2757)Tca>Cca p.S919P CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 909 integral to membrane isomerase activity|sulfotransferase activity p.S919P(1) NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CGGATATCTGACACCTTCCAT 0.423 5 138 --- --- --- --- PRR22 163154 broad.mit.edu 37 19 5784048 5784048 + Silent SNP T T C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr19:5784048T>C ENST00000419421.2 - 3 314 c.210A>G c.(208-210)ccA>ccG p.P70P CTB-54O9.9_ENST00000586012.1_3'UTR NM_001134316.1 NP_001127788.1 Q8IZ63 PRR22_HUMAN proline rich 22 68 p.P68P(1) endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 AGCACCCGCATGGGGCCATCT 0.677 3 45 --- --- --- --- ICAM1 3383 broad.mit.edu 37 19 10394818 10394818 + Silent SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr19:10394818G>A ENST00000264832.3 + 4 1072 c.747G>A c.(745-747)caG>caA p.Q249Q ICAM1_ENST00000423829.2_Silent_p.Q27Q|CTD-2369P2.5_ENST00000592893.1_RNA NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 249 Ig-like C2-type 3. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity p.Q249Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CGGAGGCCCAGGTCCACCTGG 0.647 4 55 --- --- --- --- S1PR5 53637 broad.mit.edu 37 19 10625418 10625418 + Silent SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr19:10625418G>A ENST00000439028.3 - 2 395 c.270C>T c.(268-270)gcC>gcT p.A90A S1PR5_ENST00000333430.4_Silent_p.A90A NM_001166215.1 NP_001159687.1 Q9H228 S1PR5_HUMAN sphingosine-1-phosphate receptor 5 90 integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity p.A90A(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 12 GGATGTTGGCGGCGTAGGCGG 0.672 5 4 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31770341 31770341 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr19:31770341C>T ENST00000240587.4 - 2 685 c.358G>A c.(358-360)Gcc>Acc p.A120T NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 120 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A120T(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TTGTACACGGCCTTCATCTGC 0.557 4 75 --- --- --- --- FERMT1 55612 broad.mit.edu 37 20 6077614 6077614 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr20:6077614C>T ENST00000217289.4 - 8 1812 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 342 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding p.E342K(2) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 GCTTCTATTTCATCAACCTCG 0.418 8 393 --- --- --- --- RRBP1 6238 broad.mit.edu 37 20 17622555 17622555 + Nonsense_Mutation SNP T T A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr20:17622555T>A ENST00000377813.1 - 5 2374 c.2071A>T c.(2071-2073)Aag>Tag p.K691* RRBP1_ENST00000455029.2_Nonsense_Mutation_p.K32*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.K258*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K258*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K691* Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 691 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity p.K258*(1)|p.K691*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GGGTCACCCTTCTGAGTGGCC 0.557 10 192 --- --- --- --- L3MBTL1 26013 broad.mit.edu 37 20 42161556 42161556 + Silent SNP T T C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr20:42161556T>C ENST00000444063.1 + 9 1290 c.1158T>C c.(1156-1158)taT>taC p.Y386Y L3MBTL1_ENST00000373134.1_Silent_p.Y386Y|L3MBTL1_ENST00000373135.3_Silent_p.Y386Y|L3MBTL1_ENST00000427442.2_Silent_p.Y454Y|L3MBTL1_ENST00000418998.1_Silent_p.Y454Y Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 386 Interaction with monomethylated and dimethylated peptides. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Y454Y(1) breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 ATGATACTTATGACTACTGGT 0.572 7 77 --- --- --- --- YWHAH 7533 broad.mit.edu 37 22 32346379 32346379 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr22:32346379C>T ENST00000397492.1 + 2 384 c.172C>T c.(172-174)Cct>Tct p.P58S YWHAH_ENST00000471374.1_Intron|YWHAH_ENST00000248975.5_Intron Q04917 1433F_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide 0 glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity cytoplasm enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1) 4 CGCCCCTACTCCTGGCTGCAG 0.522 25 90 --- --- --- --- TBL1XR1 79718 broad.mit.edu 37 3 176768285 176768286 + Frame_Shift_Ins INS - - A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:176768285_176768286insA ENST00000430069.1 - 6 799_800 c.540_541insT c.(538-543)gttagtfs p.S181fs TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.S181fs Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 181 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) AGGAGATCACTAACAGGGTTCC 0.361 15 64 --- --- --- --- CPEB4 80315 broad.mit.edu 37 5 173317315 173317316 + Frame_Shift_Ins INS - - G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr5:173317315_173317316insG ENST00000265085.5 + 1 2033_2034 c.579_580insG c.(580-582)gggfs p.G194fs CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000519835.1_Frame_Shift_Ins_p.G194fs NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 194 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TTCACCAGGGAGGGGTCCCTGC 0.505 15 157 --- --- --- --- MKRN1 23608 broad.mit.edu 37 7 140158897 140158897 + Frame_Shift_Del DEL G G - TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr7:140158897delG ENST00000255977.2 - 4 905 c.681delC c.(679-681)aacfs p.N227fs MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs|MKRN1_ENST00000437223.2_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 227 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) GATACACACAGTTCTCCCCGT 0.522 19 233 --- --- --- --- DYNLRB1 83658 broad.mit.edu 37 20 33122618 33122618 + Frame_Shift_Del DEL C C - TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr20:33122618delC ENST00000417166.2 + 3 299 c.266delC c.(265-267)tccfs p.S89fs DYNLRB1_ENST00000357156.2_Intron|DYNLRB1_ENST00000374846.3_Intron|DYNLRB1_ENST00000480759.1_Intron Q9NP97 DLRB1_HUMAN dynein, light chain, roadblock-type 1 0 microtubule-based movement|transport|visual behavior centrosome|cytoplasmic dynein complex|microtubule microtubule motor activity endometrium(1)|large_intestine(1)|lung(1) 3 TCTTCTACCTCCCCATGTAGG 0.532 7 51 --- --- --- --- NCAM2 4685 broad.mit.edu 37 21 22658654 22658655 + Frame_Shift_Ins INS - - T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr21:22658654_22658655insT ENST00000400546.1 + 4 652_653 c.403_404insT c.(403-405)gttfs p.V135fs NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.V160fs NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 135 Ig-like C2-type 2. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TGCAGAAGTGGTTTGCCGAGTT 0.401 25 87 --- --- --- ---