Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ZNF707 286075 broad.mit.edu 37 8 144776071 144776071 + Missense_Mutation SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr8:144776071C>T ENST00000532205.1 + 8 1386 c.487C>T c.(487-489)Cgc>Tgc p.R163C ZNF707_ENST00000532158.1_Missense_Mutation_p.R163C|ZNF707_ENST00000418203.2_Missense_Mutation_p.R163C|ZNF707_ENST00000358656.4_Missense_Mutation_p.R163C|ZNF707_ENST00000454097.1_Missense_Mutation_p.R163C Q96C28 ZN707_HUMAN zinc finger protein 707 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCGGCCGGGCCGCAGAGAGCG 0.677000 4 19 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7848268 7848268 + Missense_Mutation SNP G G C TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:7848268G>C ENST00000377532.3 + 4 778 c.554G>C c.(553-555)aGa>aCa p.R185T PER3_ENST00000361923.2_Missense_Mutation_p.R185T|PER3_ENST00000377541.1_Missense_Mutation_p.R185T P56645 PER3_HUMAN period circadian clock 3 185 PAS 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CACACTGCCAGAGCTCAGCTT 0.463000 4 45 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152539540 152539540 + Splice_Site SNP T T C rs35128811 TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr6:152539540T>C ENST00000367255.5 - 121 22646 c.e121-2 SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AACTCCAGCCTTTTTTTCCAC 0.343000 HNSCC(10;0.0054) 4 216 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450409 158450409 + Missense_Mutation SNP A A C TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:158450409A>C ENST00000368152.1 + 1 742 c.742A>C c.(742-744)Att>Ctt p.I248L RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TATCCTGAAGATTCCCTCAGC 0.438000 10 75 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43519114 43519114 + Missense_Mutation SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr6:43519114G>A ENST00000265351.7 - 15 1859 c.1649C>T c.(1648-1650)tCc>tTc p.S550F XPO5_ENST00000424378.2_5'UTR NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 550 Necessary for interaction with ILF3. gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AAGGACGCAGGACAGGATGAG 0.438000 24 56 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9888099 9888099 + Silent SNP T T G TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr18:9888099T>G ENST00000306084.6 + 2 1822 c.1623T>G c.(1621-1623)ctT>ctG p.L541L TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.L474L|TXNDC2_ENST00000577697.1_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 541 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GCGGCGCCCTTAAGGAAAAAC 0.393000 8 15 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27277614 27277614 + Missense_Mutation SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr2:27277614G>A ENST00000360131.4 + 5 827 c.668G>A c.(667-669)cGt>cAt p.R223H AGBL5_ENST00000323064.8_Missense_Mutation_p.R223H NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 223 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGAGAGCCCCGTCTAGAGCAG 0.502000 35 84 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38793972 38793972 + Missense_Mutation SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr3:38793972C>T ENST00000449082.2 - 11 1492 c.1493G>A c.(1492-1494)cGg>cAg p.R498Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 498 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATGACTAGCCCGGCGTTTTCC 0.547000 7 25 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10447770 10447770 + Silent SNP T T A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr4:10447770T>A ENST00000326756.3 - 3 621 c.183A>T c.(181-183)gcA>gcT p.A61A NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TTTTGCACTTTGCACATGTAG 0.488000 16 131 0 0 1 0 0 ILKAP 80895 broad.mit.edu 37 2 239090711 239090711 + Silent SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr2:239090711G>A ENST00000254654.3 - 9 1006 c.831C>T c.(829-831)aaC>aaT p.N277N NM_030768.2 NP_110395.1 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated serine/threonine phosphatase 277 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) GTTACCTGACGTTTCCTCCAG 0.493000 10 169 0 0 1 0 0 AKR1C4 1109 broad.mit.edu 37 10 5248268 5248268 + Missense_Mutation SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr10:5248268G>A ENST00000380448.1 + 7 731 c.478G>A c.(478-480)Gcc>Acc p.A160T AKR1C4_ENST00000263126.1_Missense_Mutation_p.A160T P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 160 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) TGCAGGATTGGCCAAGTCCAT 0.493000 4 89 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 112 0 0 1 0 0 PNMT 5409 broad.mit.edu 37 17 37826226 37826226 + Missense_Mutation SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr17:37826226C>T ENST00000269582.2 + 3 751 c.433C>T c.(433-435)Cgc>Tgc p.R145C PNMT_ENST00000394246.1_Missense_Mutation_p.R47C|PNMT_ENST00000581428.1_3'UTR NM_002686.3 NP_002677.1 P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase 145 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GGATAAGGAGCGCCAGCTGCG 0.662000 7 59 0 0 1 0 0 PRPF4 9128 broad.mit.edu 37 9 116049072 116049072 + Missense_Mutation SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr9:116049072C>T ENST00000374199.4 + 9 1297 c.896C>T c.(895-897)gCg>gTg p.A299V PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V O43172 PRP4_HUMAN pre-mRNA processing factor 4 300 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 GCCTCTTGTGCGGCTGATGGC 0.468000 5 500 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60591204 60591204 + Missense_Mutation SNP G G T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr14:60591204G>T ENST00000406854.1 + 9 2869 c.2315G>T c.(2314-2316)tGc>tTc p.C772F PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.C772F|PCNXL4_ENST00000317623.4_Missense_Mutation_p.C538F|PCNXL4_ENST00000406949.1_Missense_Mutation_p.C538F pecanex-like 4 (Drosophila) GTTCAATACTGCTCCAAAAGG 0.388000 14 97 0.000219431 0.00022286 1 1 0 CDH26 60437 broad.mit.edu 37 20 58564004 58564004 + Missense_Mutation SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr20:58564004G>A ENST00000348616.4 + 9 1369 c.1069G>A c.(1069-1071)Gtg>Atg p.V357M CDH26_ENST00000244047.5_Missense_Mutation_p.V357M NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 357 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CATCATTGTCGTGGAGAATGA 0.567000 7 49 0 0 1 0 0 C10orf53 282966 broad.mit.edu 37 10 50901903 50901903 + Missense_Mutation SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr10:50901903G>A ENST00000374113.3 + 2 228 c.181G>A c.(181-183)Gtc>Atc p.V61I C10orf53_ENST00000374111.3_Missense_Mutation_p.V61I|C10orf53_ENST00000535836.1_Missense_Mutation_p.V61I|CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000374112.3_Missense_Mutation_p.V61I Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 61 endometrium(1)|lung(6) 7 all_neural(218;0.107) GAATGAAGAAGTCATCTTCCA 0.468000 20 48 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 61 0 0 1 0 0 KCNF1 3754 broad.mit.edu 37 2 11053815 11053815 + Silent SNP C C T rs144040411 byFrequency TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr2:11053815C>T ENST00000295082.1 + 1 1753 c.1263C>T c.(1261-1263)acC>acT p.T421T NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 421 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) TCCTGGAGACCGCGGCCAAGC 0.617000 8 36 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643191 1643191 + Missense_Mutation SNP A A G TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr11:1643191A>G ENST00000399682.1 - 1 177 c.133T>C c.(133-135)Tgt>Cgt p.C45R NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 45 keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CTGGagccacagcccccacag 0.692000 4 105 0 0 1 0 0 C16orf89 146556 broad.mit.edu 37 16 5110422 5110422 + Missense_Mutation SNP A A G TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr16:5110422A>G ENST00000315997.5 - 3 575 c.374T>C c.(373-375)cTc>cCc p.L125P C16orf89_ENST00000422873.1_Missense_Mutation_p.L163P|C16orf89_ENST00000474471.3_Missense_Mutation_p.L125P|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.L125P|C16orf89_ENST00000350219.4_Missense_Mutation_p.L163P NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 125 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 CCCGGGCTGGAGGGTCAGCTG 0.627000 3 43 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7568246 7568246 + Missense_Mutation SNP C C T rs146499343 TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr16:7568246C>T ENST00000340209.4 + 2 437 c.140C>T c.(139-141)aCg>aTg p.T47M RBFOX1_ENST00000436368.2_Missense_Mutation_p.T62M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T78M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.T62M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T62M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.T85M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.T78M|RBFOX1_ENST00000550418.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T85M Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 42 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GCGGAATACACGGCCCCTCAT 0.637000 7 161 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7222513 7222513 + Silent SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr17:7222513G>A ENST00000399464.2 - 22 3555 c.3540C>T c.(3538-3540)ttC>ttT p.F1180F NEURL4_ENST00000315614.7_Silent_p.F1178F|NEURL4_ENST00000570460.1_Silent_p.F1156F NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTCGGTTTAGGAAATCTATCC 0.567000 9 34 0 0 1 0 0 TBC1D19 55296 broad.mit.edu 37 4 26622238 26622238 + Silent SNP T T C TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr4:26622238T>C ENST00000264866.4 + 4 500 c.222T>C c.(220-222)ttT>ttC p.F74F TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Intron NM_018317.2 NP_060787.2 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 74 intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) CTCCTAGGTTTCCTTTACCTA 0.368000 15 51 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78010846 78010846 + Silent SNP T T C TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chrX:78010846T>C ENST00000435339.2 + 2 885 c.480T>C c.(478-480)gcT>gcC p.A160A LPAR4_ENST00000373301.2_Silent_p.A160A NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 160 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TTGTGTGTGCTGGTGTCTGGA 0.463000 7 21 0 0 1 0 0 TMEM209 84928 broad.mit.edu 37 7 129818271 129818271 + Missense_Mutation SNP T T C TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr7:129818271T>C ENST00000397622.2 - 10 1339 c.1217A>G c.(1216-1218)aAt>aGt p.N406S RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Intron|TMEM209_ENST00000462753.1_Missense_Mutation_p.N405S|TMEM209_ENST00000473456.1_Intron NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 406 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) GTATTCCTGATTTGGAGTAAG 0.353000 5 20 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10186877 10186877 + Missense_Mutation SNP T T C TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:10186877T>C ENST00000377157.3 + 10 1906 c.845T>C c.(844-846)cTg>cCg p.L282P UBE4B_ENST00000343090.6_Missense_Mutation_p.L527P|UBE4B_ENST00000253251.8_Missense_Mutation_p.L398P|UBE4B_ENST00000475795.1_3'UTR NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 527 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TTACAAGGCCTGGCTCTTGCT 0.348000 8 66 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16360454 16360454 + Silent SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr20:16360454G>A ENST00000354981.2 - 19 2350 c.2193C>T c.(2191-2193)gaC>gaT p.D731D KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.D731D|KIF16B_ENST00000355755.3_Silent_p.D731D NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 731 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TTTGGAGCTGGTCCAGTTCTT 0.458000 15 64 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175110 51175110 + Missense_Mutation SNP C C A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr16:51175110C>A ENST00000440970.1 - 2 1163 c.732G>T c.(730-732)atG>atT p.M244I SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.M341I NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 341 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCAATATGTTCATATTGGGAG 0.537000 9 92 1.11149e-13 1.18438e-13 1 1 0 NAIP 4671 broad.mit.edu 37 5 70307189 70307189 + Missense_Mutation SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr5:70307189G>A ENST00000517649.1 - 5 871 c.581C>T c.(580-582)aCg>aTg p.T194M NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.T194M|NAIP_ENST00000508426.2_Missense_Mutation_p.T194M NM_004536.2 NP_004527.2 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein 194 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) ACACTGTACCGTGTCCTGTTT 0.423000 10 24 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764221 82764221 + Missense_Mutation SNP C C A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr7:82764221C>A ENST00000423517.2 - 3 2982 c.2645G>T c.(2644-2646)cGa>cTa p.R882L PCLO_ENST00000333891.8_Missense_Mutation_p.R882L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 828 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R882L(2)|p.R828L(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGCGGTAGGTCGTGGGCCAGG 0.517000 6 264 1.26484e-09 1.305e-09 1 1 0 PTPRC 5788 broad.mit.edu 37 1 198703477 198703477 + Missense_Mutation SNP G G C TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:198703477G>C ENST00000367376.2 + 22 2365 c.2194G>C c.(2194-2196)Gat>Cat p.D732H PTPRC_ENST00000348564.6_Missense_Mutation_p.D573H|PTPRC_ENST00000442510.2_Missense_Mutation_p.D734H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D684H|PTPRC_ENST00000594404.1_Missense_Mutation_p.D571H NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 732 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TGAAACTGTTGATGATTTCTG 0.348000 14 401 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321583 52321583 + Silent SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr8:52321583G>A ENST00000356297.4 - 17 2701 c.2601C>T c.(2599-2601)ccC>ccT p.P867P PXDNL_ENST00000543296.1_Silent_p.P867P NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 867 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGGCACACGCGGGGCTGGAGC 0.647000 12 22 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43779603 43779603 + Silent SNP G G T rs150268802 TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:43779603G>T ENST00000372476.3 + 14 2452 c.2373G>T c.(2371-2373)ctG>ctT p.L791L TIE1_ENST00000433781.2_Silent_p.L436L|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 791 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GAAGCTGCCTGCATCGGAGAC 0.612000 6 37 1.26484e-09 1.305e-09 1 1 0 DNAH10 196385 broad.mit.edu 37 12 124289442 124289442 + Missense_Mutation SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr12:124289442C>T ENST00000409039.3 + 17 2513 c.2488C>T c.(2488-2490)Cgg>Tgg p.R830W NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 830 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCACATGGTCCGGTGGTATCT 0.532000 6 131 0 0 1 0 0 WNT1 7471 broad.mit.edu 37 12 49374247 49374247 + Silent SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr12:49374247C>T ENST00000293549.3 + 3 435 c.399C>T c.(397-399)gcC>gcT p.A133A NM_005430.3 NP_005421.1 P04628 WNT1_HUMAN wingless-type MMTV integration site family, member 1 133 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(357;0.244) TCACCTCCGCCGGGGTCACCC 0.682000 11 36 0 0 1 0 0 FAM73B 84895 broad.mit.edu 37 9 131831378 131831378 + Silent SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr9:131831378G>A ENST00000358369.4 + 14 1654 c.1428G>A c.(1426-1428)tcG>tcA p.S476S FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR NM_032809.2 NP_116198.2 Q7L4E1 FA73B_HUMAN family with sequence similarity 73, member B 476 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 CTTGCTGGTCGGTCCTGAAAG 0.647000 OREG0003928 type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 177 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 31 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31473498 31473498 + Silent SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr16:31473498G>A ENST00000457010.2 + 3 1331 c.630G>A c.(628-630)tcG>tcA p.S210S ARMC5_ENST00000412665.2_Silent_p.S46S|ARMC5_ENST00000408912.3_Silent_p.S305S|ARMC5_ENST00000538189.1_Silent_p.S242S|ARMC5_ENST00000563544.1_Silent_p.S210S|ARMC5_ENST00000268314.4_Silent_p.S210S NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 210 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GCCAGGACTCGCAGTGCCTAC 0.647000 4 57 0 0 1 0 0 FAM151A 338094 broad.mit.edu 37 1 55077406 55077406 + Silent SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:55077406C>T ENST00000302250.2 - 6 973 c.813G>A c.(811-813)acG>acA p.T271T FAM151A_ENST00000371304.2_Silent_p.T271T|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 271 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CCTGCCACAGCGTCAGGCTGT 0.597000 8 59 0 0 1 0 0 SH3BGRL2 83699 broad.mit.edu 37 6 80383442 80383442 + Missense_Mutation SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr6:80383442G>A ENST00000369838.4 + 2 336 c.157G>A c.(157-159)Gtc>Atc p.V53I NM_031469.2 NP_113657.1 Q9UJC5 SH3L2_HUMAN SH3 domain binding glutamic acid-rich protein like 2 53 nucleus SH3 domain binding large_intestine(2)|lung(3) 5 all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174) BRCA - Breast invasive adenocarcinoma(397;0.0278) GTACAAAAACGTCCCCCCGGA 0.473000 25 85 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173556842 173556842 + Missense_Mutation SNP A A G TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:173556842A>G ENST00000367714.3 - 5 907 c.485T>C c.(484-486)aTa>aCa p.I162T RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I60T NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 162 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AAGAGGATCTATAATGCCAAG 0.318000 6 66 0 0 1 0 0 TEX11 0 broad.mit.edu 37 X 69843845 69843845 + Missense_Mutation SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chrX:69843845C>T ENST00000395889.2 - 21 1906 c.1751G>A c.(1750-1752)cGt>cAt p.R584H TEX11_ENST00000344304.3_Missense_Mutation_p.R584H|TEX11_ENST00000374333.2_Missense_Mutation_p.R569H|TEX11_ENST00000374320.2_Missense_Mutation_p.R259H NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 584 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) AAGAAGAAAACGAAGCAAACA 0.323000 21 23 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7848219 7848219 + Missense_Mutation SNP G G C TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:7848219G>C ENST00000377532.3 + 4 729 c.505G>C c.(505-507)Gac>Cac p.D169H PER3_ENST00000361923.2_Missense_Mutation_p.D169H|PER3_ENST00000377541.1_Missense_Mutation_p.D169H P56645 PER3_HUMAN period circadian clock 3 169 PAS 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TCACTTTGTTGACCTGCTTGC 0.468000 14 54 0 0 1 0 0 CH17-132F21.1 0 broad.mit.edu 37 2 90458660 90458660 + Missense_Mutation SNP C C A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr2:90458660C>A ENST00000603238.1 + 2 336 c.336C>A c.(334-336)gaC>gaA p.112_112insE AACAGAGTGACAGTACCCCTC 0.522000 20 446 1.55795e-14 1.68777e-14 1 1 0 HECW1 23072 broad.mit.edu 37 7 43546798 43546798 + Missense_Mutation SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr7:43546798C>T ENST00000395891.1 + 22 4299 c.3694C>T c.(3694-3696)Cgc>Tgc p.R1232C HECW1_ENST00000453890.1_Missense_Mutation_p.R1198C NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1232 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GGCCAAGCTCCGCAATTTCTA 0.493000 11 56 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791238 50791238 + Missense_Mutation SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr6:50791238C>T ENST00000263046.4 + 3 393 c.227C>T c.(226-228)cCg>cTg p.P76L TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P67L Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 67 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) GACTTCCAGCCGCCCTACTTC 0.692000 8 27 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209804013 209804013 + Missense_Mutation SNP T T G TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:209804013T>G ENST00000391911.1 - 8 1279 c.890A>C c.(889-891)tAc>tCc p.Y297S LAMB3_ENST00000367030.3_Missense_Mutation_p.Y297S|LAMB3_ENST00000356082.4_Missense_Mutation_p.Y297S NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 297 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CCGGTTGTTGTAGAAGGGTGC 0.612000 4 32 0 0 1 0 0 KLHDC4 54758 broad.mit.edu 37 16 87760499 87760499 + Missense_Mutation SNP A A G TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr16:87760499A>G ENST00000270583.5 - 7 689 c.631T>C c.(631-633)Ttt>Ctt p.F211L KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.F154L|KLHDC4_ENST00000347925.5_Missense_Mutation_p.F180L NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 211 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) TCCAGATTAAAGGCATACACG 0.532000 9 29 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57367489 57367489 + Silent SNP C C A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr11:57367489C>A ENST00000403558.1 + 2 657 c.291C>A c.(289-291)tcC>tcA p.S97S SERPING1_ENST00000378323.4_Silent_p.S68S|SERPING1_ENST00000378324.2_Silent_p.S11S|SERPING1_ENST00000340687.6_Silent_p.S63S|SERPING1_ENST00000278407.4_Silent_p.S63S NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 63 7 X 4 AA tandem repeats of [QE]-P-T-[TQ]. Missing (in HAE; type 2). blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 TGGAGGTTTCCAGCTTGCCGA 0.512000 7 36 0.00198382 0.00198382 1 1 0 COG7 91949 broad.mit.edu 37 16 23417460 23417460 + Silent SNP A A G TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr16:23417460A>G ENST00000307149.5 - 12 1784 c.1599T>C c.(1597-1599)aaT>aaC p.N533N NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 533 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) TCTGGAGGTAATTATATTCTT 0.423000 30 113 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 4 41 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35921839 35921839 + Missense_Mutation SNP C C G TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:35921839C>G ENST00000325722.3 - 10 1665 c.1431G>C c.(1429-1431)ttG>ttC p.L477F KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 477 PKD 2. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTACTACAGTCAAGCTATCAG 0.473000 17 33 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108641817 108641817 + Missense_Mutation SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chrX:108641817G>A ENST00000218006.2 - 11 2527 c.2236C>T c.(2236-2238)Cgg>Tgg p.R746W NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 746 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GGGGTACCCCGGACCATCACT 0.542000 9 42 0 0 1 0 0 SUPT5H 6829 broad.mit.edu 37 19 39964093 39964093 + Silent SNP G G A TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr19:39964093G>A ENST00000599117.1 + 26 2791 c.2424G>A c.(2422-2424)ctG>ctA p.L808L SUPT5H_ENST00000432763.2_Silent_p.L808L|SUPT5H_ENST00000402194.2_Silent_p.L804L|SUPT5H_ENST00000598725.1_Silent_p.L808L|SUPT5H_ENST00000359191.6_Silent_p.L804L O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 808 9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGACGCCCCTGCATGATGGCA 0.632000 20 72 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41452117 41452117 + Missense_Mutation SNP C C T TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr21:41452117C>T ENST00000400454.1 - 25 4859 c.4382G>A c.(4381-4383)cGc>cAc p.R1461H NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1461 Fibronectin type-III 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTCACTTATGCGCCCTGGGCC 0.468000 4 98 0 0 1 0 0 RBBP5 5929 broad.mit.edu 37 1 205068139 205068144 + In_Frame_Del DEL ATCTTC ATCTTC - TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr1:205068139_205068144delATCTTC ENST00000264515.6 - 10 1210_1215 c.1069_1074delGAAGAT c.(1069-1074)del p.ED357del RBBP5_ENST00000367164.1_In_Frame_Del_p.ED357del NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 357 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) GCTCACTCTTATCTTCATCTTCAATA 0.350 13 62 --- --- --- --- ANKRD36 375248 broad.mit.edu 37 2 97858738 97858738 + Frame_Shift_Del DEL T T - TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr2:97858738delT ENST00000420699.2 + 38 2641 c.2397delT c.(2395-2397)ggfs p.G799fs ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.G799fs NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 799 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 ACGAGGAAGGTTCTGTTTTGA 0.313 2 4 --- --- --- --- TMEM237 65062 broad.mit.edu 37 2 202496776 202496777 + Frame_Shift_Ins INS - - T rs80208774 TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr2:202496776_202496777insT ENST00000409444.2 - 7 843_844 c.526_527insA c.(526-528)ccgfs p.P176fs TMEM237_ENST00000409883.2_Frame_Shift_Ins_p.P184fs NM_152388.3 NP_689601.2 Q96Q45 TM237_HUMAN transmembrane protein 237 208 integral to membrane protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3) 7 CTACTTACGGCTTTTTTCCACA 0.376 21 116 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 9 28 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 6 8 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-KK-A6E6-01A-11D-A30X-08 TCGA-KK-A6E6-11A-11D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a006949-56b7-4774-9768-6f384207ff48 605429ab-6e57-4c37-a6f9-85ef92e057f5 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 7 191 --- --- --- ---