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 CCDC94 55702 broad.mit.edu 37 19 4247149 4247149 + Silent SNP G G T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr19:4247149G>T ENST00000262962.7 + 1 74 c.6G>T c.(4-6)tcG>tcT p.S2S NM_018074.4 NP_060544.2 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 2 NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2) 7 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) CAAAGATGTCGGAGCGAAAAG 0.517000 OREG0025163 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 54 2.48551e-13 2.72604e-13 1 1 0 USP31 57478 broad.mit.edu 37 16 23098411 23098411 + Splice_Site SNP A A C TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr16:23098411A>C ENST00000219689.7 - 9 1622 c.e9+1 NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) aattttttttaCCTTTCTACT 0.388000 21 6 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222716982 222716982 + Missense_Mutation SNP T T C TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr1:222716982T>C ENST00000343410.6 - 2 929 c.871A>G c.(871-873)Att>Gtt p.I291V NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 291 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GAATAATAAATATAGAACTTG 0.463000 99 98 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160138554 160138554 + Silent SNP A A G TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:160138554A>G ENST00000357388.3 + 13 2335 c.1884A>G c.(1882-1884)aaA>aaG p.K628K RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Silent_p.K628K|SMC4_ENST00000469762.1_Silent_p.K603K|SMC4_ENST00000344722.5_Silent_p.K628K|SMC4_ENST00000360111.2_Silent_p.K628K NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 628 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTGATGAAAAATACGACGTGG 0.373000 13 77 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25953365 25953365 + Silent SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr15:25953365G>A ENST00000356865.6 - 11 2538 c.2427C>T c.(2425-2427)cgC>cgT p.R809R NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 809 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TGCACAAGGTGCGCAGGCCTT 0.582000 13 48 0 0 1 0 0 C8orf76 84933 broad.mit.edu 37 8 124250060 124250060 + Missense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr8:124250060G>A ENST00000276704.4 - 3 386 c.335C>T c.(334-336)gCg>gTg p.A112V C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.A80V NM_032847.2 NP_116236.1 Q96K31 CH076_HUMAN chromosome 8 open reading frame 76 112 binding NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4) 17 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AATCTCCAGCGCCTCCATATG 0.423000 10 36 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34242499 34242499 + Missense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr20:34242499G>A ENST00000374114.3 - 3 1009 c.746C>T c.(745-747)cCg>cTg p.P249L RBM12_ENST00000374104.3_Missense_Mutation_p.P249L|CPNE1_ENST00000397445.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P249L|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 249 Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CACAGGTGGCGGATTCAAGGG 0.547000 11 115 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136305585 136305585 + Missense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr9:136305585G>A ENST00000371929.3 + 16 2351 c.1907G>A c.(1906-1908)cGg>cAg p.R636Q ADAMTS13_ENST00000536611.1_Missense_Mutation_p.R308Q|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R605Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R636Q|ADAMTS13_ENST00000485925.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 636 Spacer. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ACCGAGGACCGGCTGCCCCGC 0.637000 7 0 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70370981 70370981 + Missense_Mutation SNP C C G TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr13:70370981C>G ENST00000377844.4 - 7 2287 c.1528G>C c.(1528-1530)Gta>Cta p.V510L KLHL1_ENST00000545028.1_Missense_Mutation_p.V317L NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 510 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CCTCCAATTACAAAGAGTTTG 0.423000 53 64 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767603 77767603 + Missense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr8:77767603G>A ENST00000521891.2 + 10 8894 c.8446G>A c.(8446-8448)Gga>Aga p.G2816R ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2771R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2771R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2790R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2771 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CGCCACCACCGGAGACGAGGG 0.473000 HNSCC(33;0.089) 35 27 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228400285 228400285 + Silent SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr1:228400285C>T ENST00000570156.2 + 2 875 c.801C>T c.(799-801)ccC>ccT p.P267P OBSCN_ENST00000366707.4_5'UTR|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000422127.1_Silent_p.P267P|OBSCN_ENST00000284548.11_Silent_p.P267P|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 267 Ig-like 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCCCAAGCCCGAGACGGTGT 0.687000 7 54 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127642758 127642758 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:127642758C>A ENST00000405109.1 + 2 1321 c.854C>A c.(853-855)tCa>tAa p.S285* KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Nonsense_Mutation_p.S285*|KBTBD12_ENST00000407609.3_Intron Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 285 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 AACAATTCTTCAGGAATCAGA 0.438000 30 38 3.99451e-17 4.42869e-17 1 1 0 CYP2A13 1553 broad.mit.edu 37 19 41600941 41600941 + Silent SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr19:41600941C>T ENST00000330436.3 + 8 1239 c.1239C>T c.(1237-1239)ccC>ccT p.P413P NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 413 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) ACTTCAATCCCCAGCACTTCC 0.562000 36 61 0 0 1 0 0 HEPACAM 220296 broad.mit.edu 37 11 124792321 124792321 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr11:124792321C>T ENST00000298251.4 - 6 1316 c.911G>A c.(910-912)cGg>cAg p.R304Q NM_152722.4 NP_689935.2 Q14CZ8 HECAM_HUMAN hepatic and glial cell adhesion molecule 304 cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) GGGGTTCTTCCGTTCCTGCTC 0.607000 37 87 0 0 1 0 0 SOX8 30812 broad.mit.edu 37 16 1034725 1034725 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr16:1034725C>T ENST00000293894.3 + 3 795 c.680C>T c.(679-681)cCg>cTg p.P227L NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 227 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) CCGCCCACCCCGCCCACCACC 0.731000 3 6 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098888 178098888 + Missense_Mutation SNP T T G TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr2:178098888T>G ENST00000397062.3 - 2 711 c.157A>C c.(157-159)Aaa>Caa p.K53Q NFE2L2_ENST00000464747.1_Missense_Mutation_p.K37Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.K37Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.K37Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.K37Q NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 53 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTTTCAAGTTTTTTCTGTTTT 0.393000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 56 48 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1806089 1806089 + Missense_Mutation SNP G G T rs121913479 TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr4:1806089G>T ENST00000340107.4 + 9 1370 c.1114G>T c.(1114-1116)Ggc>Tgc p.G372C FGFR3_ENST00000481110.2_Missense_Mutation_p.G370C|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.G370C|FGFR3_ENST00000440486.2_Missense_Mutation_p.G370C|FGFR3_ENST00000412135.2_Intron NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 370 bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.G370C(108)|p.A369_G370>VC(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) TGACGAGGCGGGCAGTGTGTA 0.687000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 89 78 7.49063e-41 8.58477e-41 1 1 0 XKR4 114786 broad.mit.edu 37 8 56435849 56435849 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr8:56435849C>T ENST00000327381.6 + 3 1116 c.1016C>T c.(1015-1017)gCg>gTg p.A339V NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) GGTTTCACAGCGGCAGCTTCC 0.587000 6 27 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124382176 124382176 + Silent SNP A A G rs148244463 TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr8:124382176A>G ENST00000287394.5 - 7 923 c.816T>C c.(814-816)gaT>gaC p.D272D ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 272 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) catcatcatcatcatcatcgt 0.363000 8 51 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113742940 113742940 + Silent SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr13:113742940C>T ENST00000397030.1 + 25 2968 c.2931C>T c.(2929-2931)acC>acT p.T977T MCF2L_ENST00000375608.3_Silent_p.T974T|MCF2L_ENST00000375597.4_Silent_p.T942T|MCF2L_ENST00000375601.3_Silent_p.T948T|MCF2L_ENST00000535094.2_Silent_p.T944T|MCF2L_ENST00000434480.2_Silent_p.T950T|MCF2L_ENST00000423482.2_Silent_p.T942T|MCF2L_ENST00000375604.2_Silent_p.T1001T|MCF2L_ENST00000442652.2_Silent_p.T974T|MCF2L_ENST00000421756.1_Silent_p.T948T O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 974 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CGACCAGCACCAGGTGAGAAT 0.672000 3 3 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67331479 67331479 + Silent SNP G G T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr16:67331479G>T ENST00000304372.5 - 7 1129 c.1074C>A c.(1072-1074)atC>atA p.I358I NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 358 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GCTCGTAGGTGATGTCCCTTT 0.512000 13 34 2.27111e-07 2.41305e-07 1 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146829392 146829392 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr7:146829392C>T ENST00000361727.3 + 8 1655 c.1139C>T c.(1138-1140)gCt>gTt p.A380V NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 380 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTTTTCAACGCTACAAGTTAC 0.458000 HNSCC(39;0.1) 19 76 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56586092 56586092 + Silent SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr18:56586092G>A ENST00000336078.4 + 4 1349 c.573G>A c.(571-573)acG>acA p.T191T ZNF532_ENST00000589288.1_Silent_p.T191T|ZNF532_ENST00000591083.1_Silent_p.T191T|ZNF532_ENST00000591230.1_Silent_p.T191T|ZNF532_ENST00000591808.1_Silent_p.T191T NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 GACTCTCTACGTCAGGCAATG 0.473000 59 41 0 0 1 0 0 ZNF549 256051 broad.mit.edu 37 19 58050032 58050032 + Missense_Mutation SNP G G A rs140955096 TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr19:58050032G>A ENST00000376233.3 + 4 1841 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.E541K NM_001199295.1 NP_001186224 Q6P9A3 ZN549_HUMAN zinc finger protein 549 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E541*(1)|p.E554*(1) NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCACACTGGCGAAAAGCCCTG 0.448000 34 50 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 3 19 0 0 1 0 0 GP9 2815 broad.mit.edu 37 3 128780644 128780644 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:128780644C>T ENST00000307395.4 + 3 284 c.62C>T c.(61-63)cCc>cTc p.P21L NM_000174.3 NP_000165.1 P14770 GPIX_HUMAN glycoprotein IX (platelet) 21 LRRNT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding NS(1)|central_nervous_system(1)|lung(4) 6 Quinine(DB00468) AAGGACTGCCCCAGCCCATGT 0.711000 11 5 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75969200 75969200 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr15:75969200C>T ENST00000308508.5 - 10 5752 c.5660G>A c.(5659-5661)gGc>gAc p.G1887D CTD-2026K11.1_ENST00000569467.1_RNA NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1887 Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GGGCCCCAGGCCACCACCCAC 0.667000 7 2 0 0 1 0 0 IL10RA 3587 broad.mit.edu 37 11 117866399 117866399 + Missense_Mutation SNP C C T rs149491038 TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr11:117866399C>T ENST00000227752.3 + 6 904 c.784C>T c.(784-786)Cgc>Tgc p.R262C IL10RA_ENST00000545409.1_Missense_Mutation_p.R113C|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R242C NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 262 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) GTATGTGCGGCGCCGAAAGAA 0.602000 9 18 0 0 1 0 0 SFXN2 118980 broad.mit.edu 37 10 104489106 104489106 + Silent SNP A A G TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr10:104489106A>G ENST00000369893.5 + 5 629 c.462A>G c.(460-462)acA>acG p.T154T NM_178858.4 NP_849189.1 Q96NB2 SFXN2_HUMAN sideroflexin 2 QMALSYFTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVA AANCVNIPMMRQQELIKGI -> KRRPWWAAGCPLPLWLRL TVSISP (in Ref. 2). iron ion homeostasis integral to membrane cation transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1) 13 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) TCACAGCCACAACCACTGCTG 0.637000 OREG0020485 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 10 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25953366 25953366 + Missense_Mutation SNP C C A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr15:25953366C>A ENST00000356865.6 - 11 2537 c.2426G>T c.(2425-2427)cGc>cTc p.R809L NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 809 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCACAAGGTGCGCAGGCCTTC 0.582000 13 48 0.000219431 0.000228388 1 1 0 FLG 2312 broad.mit.edu 37 1 152275948 152275948 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr1:152275948C>T ENST00000368799.1 - 3 11449 c.11414G>A c.(11413-11415)gGa>gAa p.G3805E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3805 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTTCTGGATCCTGACTGCCC 0.567000 Ichthyosis 69 303 0 0 1 0 0 PTGR1 22949 broad.mit.edu 37 9 114337106 114337106 + Missense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr9:114337106G>A ENST00000407693.2 - 8 930 c.668C>T c.(667-669)tCa>tTa p.S223L RP11-16L21.7_ENST00000450154.1_RNA|PTGR1_ENST00000538962.1_Missense_Mutation_p.S223L|PTGR1_ENST00000238248.3_Missense_Mutation_p.S100L|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000309195.5_Missense_Mutation_p.S223L NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 223 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 AACAGTGTTTGAAAACTCTCC 0.383000 27 2 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71026115 71026115 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:71026115G>A ENST00000318789.4 - 17 2032 c.1507C>T c.(1507-1509)Cga>Tga p.R503* FOXP1_ENST00000491238.1_Nonsense_Mutation_p.R505*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.R503*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.R503*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.R503*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.R427*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.R502* NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 503 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GCGTTGCGTCGGAAGTAAGCA 0.428000 T PAX5 ALL 22 36 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178951955 178951955 + Missense_Mutation SNP A A G TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:178951955A>G ENST00000263967.3 + 21 3167 c.3010A>G c.(3010-3012)Atg>Gtg p.M1004V NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1004 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCTTTTCTCAATGATGCTTGG 0.388000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 25 39 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124266950 124266950 + Missense_Mutation SNP G G C TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr11:124266950G>C ENST00000354597.3 - 1 314 c.298C>G c.(298-300)Cag>Gag p.Q100E NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AAAAACAGCTGAGTCATGCAC 0.368000 5 43 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647419 20647419 + Missense_Mutation SNP G G T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr2:20647419G>T ENST00000272233.4 + 1 585 c.193G>T c.(193-195)Gac>Tac p.D65Y NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 65 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GGGCCAGGAGGACTACGACCG 0.642000 46 43 5.2432e-18 5.877e-18 1 1 0 TNRC18 84629 broad.mit.edu 37 7 5347790 5347790 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr7:5347790C>T ENST00000399537.4 - 30 9202 c.8854G>A c.(8854-8856)Gag>Aag p.E2952K TNRC18_ENST00000430969.1_Missense_Mutation_p.E2952K O15417 TNC18_HUMAN trinucleotide repeat containing 18 2952 BAH. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GTGGTGGGCTCGTAGGTGCCC 0.677000 4 6 0 0 1 0 0 NACC1 112939 broad.mit.edu 37 19 13246329 13246329 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr19:13246329C>T ENST00000292431.4 + 2 434 c.308C>T c.(307-309)aCg>aTg p.T103M NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 103 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 CTCATGTACACGGCTGGCTTC 0.627000 11 24 0 0 1 0 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 3 18 0.115264 0.117569 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105420733 105420733 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr14:105420733C>T ENST00000333244.5 - 7 1174 c.1055G>A c.(1054-1056)cGt>cAt p.R352H NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 352 nucleus 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) GACCCCAGCACGGCCCACCCC 0.642000 13 23 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16967689 16967689 + Missense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr10:16967689G>A ENST00000377833.4 - 42 6421 c.6356C>T c.(6355-6357)tCt>tTt p.S2119F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2119 CUB 15. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GACGTGCCAAGAACAGTTGAG 0.498000 34 19 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371373 240371373 + Silent SNP A A T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr1:240371373A>T ENST00000319653.9 + 5 3491 c.3261A>T c.(3259-3261)ccA>ccT p.P1087P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1087 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCATACCCCCACCTCCCCCTC 0.726000 3 10 0 0 1 0 0 NAALADL2 254827 broad.mit.edu 37 3 175189438 175189438 + Missense_Mutation SNP G G T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:175189438G>T ENST00000454872.1 + 9 1673 c.1545G>T c.(1543-1545)aaG>aaT p.K515N NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 515 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) ATTTCAAGAAGGTTCTTCAGA 0.343000 3 10 0.004672 0.00481358 1 1 0 SYNJ2 8871 broad.mit.edu 37 6 158492757 158492757 + Silent SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr6:158492757C>T ENST00000355585.4 + 15 2139 c.2064C>T c.(2062-2064)gcC>gcT p.A688A SYNJ2_ENST00000367122.2_Silent_p.A688A|SYNJ2_ENST00000367121.3_Silent_p.A688A NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 688 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) ACCTGACGGCCGGGCAGTCCC 0.617000 13 19 0 0 1 0 0 KLHL3 26249 broad.mit.edu 37 5 136973012 136973012 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr5:136973012C>T ENST00000508657.1 - 11 1910 c.1196G>A c.(1195-1197)cGg>cAg p.R399Q KLHL3_ENST00000309755.4_Missense_Mutation_p.R431Q|KLHL3_ENST00000506873.1_Intron|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506491.1_Missense_Mutation_p.R349Q NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 431 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) CACACTGCTCCGCCGCGTGTT 0.617000 8 30 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11144846 11144846 + Silent SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr19:11144846C>T ENST00000358026.2 + 28 4205 c.3921C>T c.(3919-3921)gcC>gcT p.A1307A SMARCA4_ENST00000450717.3_Silent_p.A1274A|SMARCA4_ENST00000429416.3_Silent_p.A1307A|SMARCA4_ENST00000444061.3_Silent_p.A1274A|SMARCA4_ENST00000413806.3_Silent_p.A1274A|SMARCA4_ENST00000589677.1_Silent_p.A1274A|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000590574.1_Silent_p.A1274A|SMARCA4_ENST00000344626.4_Silent_p.A1307A|SMARCA4_ENST00000541122.2_Silent_p.A1274A NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1307 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGATGATCGCCCGGCACGAGG 0.612000 """F, N, Mis""" NSCLC 21 36 0 0 1 0 0 FUK 197258 broad.mit.edu 37 16 70509255 70509255 + Missense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr16:70509255G>A ENST00000288078.6 + 19 2612 c.2380G>A c.(2380-2382)Gcc>Acc p.A794T FUK_ENST00000378912.2_Missense_Mutation_p.A826T|FUK_ENST00000571514.1_Missense_Mutation_p.A285T NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 794 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) TTCTGCAGGGGCCCTGCTGAA 0.627000 25 18 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94215367 94215367 + Missense_Mutation SNP T T C TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr10:94215367T>C ENST00000265986.6 - 24 2986 c.2930A>G c.(2929-2931)gAc>gGc p.D977G IDE_ENST00000371581.5_Missense_Mutation_p.D422G|IDE_ENST00000496903.1_5'UTR NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 977 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAAATTTATGTCATTTTGACA 0.323000 8 29 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40076785 40076785 + Silent SNP A A G TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr12:40076785A>G ENST00000324616.5 + 8 1213 c.1059A>G c.(1057-1059)ccA>ccG p.P353P C12orf40_ENST00000405531.3_Silent_p.P353P|C12orf40_ENST00000398716.1_Silent_p.P276P NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 353 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TTACAGTTCCAGAGTTGACTT 0.323000 14 11 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 5 103 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28844818 28844818 + Silent SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr16:28844818C>T ENST00000336783.4 + 15 2181 c.2014C>T c.(2014-2016)Ctg>Ttg p.L672L ATXN2L_ENST00000395547.2_Silent_p.L672L|ATXN2L_ENST00000564304.1_Silent_p.L678L|ATXN2L_ENST00000570200.1_Silent_p.L672L|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000340394.8_Silent_p.L672L|ATXN2L_ENST00000382686.4_Silent_p.L672L|ATXN2L_ENST00000325215.6_Silent_p.L672L|RP11-24N18.1_ENST00000563565.1_RNA NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 672 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TACAAAGCCTCTGCTGTCTGT 0.458000 16 33 0 0 1 0 0 PYGO2 90780 broad.mit.edu 37 1 154931569 154931569 + Missense_Mutation SNP G G C TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr1:154931569G>C ENST00000368457.2 - 3 1078 c.907C>G c.(907-909)Cca>Gca p.P303A PYGO2_ENST00000368456.1_Missense_Mutation_p.P266A NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 303 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTGGCATCTGGAGTGCCCCCA 0.672000 6 6 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884816 24884816 + Silent SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr14:24884816C>T ENST00000382554.3 + 9 4179 c.3861C>T c.(3859-3861)ccC>ccT p.P1287P NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1287 DNA integration integral to membrane DNA binding p.P1287P(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGCTCACCCCCGCGGCCTCCA 0.622000 5 110 0 0 1 0 0 RNF39 80352 broad.mit.edu 37 6 30043392 30043392 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr6:30043392C>A ENST00000244360.6 - 1 272 c.175G>T c.(175-177)Gaa>Taa p.E59* RNF39_ENST00000376751.3_Nonsense_Mutation_p.E59* NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 59 cytoplasm zinc ion binding GCCGCCCCTTCCGCGACCACC 0.677000 17 14 2.35188e-11 2.55204e-11 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144917523 144917523 + Silent SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr1:144917523G>A ENST00000529945.1 - 8 2509 c.2070C>T c.(2068-2070)ctC>ctT p.L690L PDE4DIP_ENST00000369359.4_Silent_p.L664L|PDE4DIP_ENST00000530740.1_Silent_p.L664L|PDE4DIP_ENST00000369354.3_Silent_p.L527L|PDE4DIP_ENST00000369356.4_Silent_p.L527L|PDE4DIP_ENST00000369351.3_Silent_p.L527L|PDE4DIP_ENST00000313382.9_Silent_p.L593L|PDE4DIP_ENST00000479408.2_Silent_p.L314L|PDE4DIP_ENST00000313431.9_Silent_p.L690L|PDE4DIP_ENST00000369349.3_Silent_p.L527L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 527 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CATTGGAGGAGAGGACATCGC 0.473000 T PDGFRB MPD 80 286 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008369 11008369 + Missense_Mutation SNP C C T rs147303952 TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr1:11008369C>T ENST00000377004.4 - 12 1822 c.1823G>A c.(1822-1824)cGt>cAt p.R608H C1orf127_ENST00000377008.4_Missense_Mutation_p.R441H NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 459 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) TCCGGGAGAACGGTGAGAAAC 0.682000 29 36 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28844383 28844383 + Missense_Mutation SNP C C A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr16:28844383C>A ENST00000336783.4 + 14 1830 c.1663C>A c.(1663-1665)Cag>Aag p.Q555K ATXN2L_ENST00000395547.2_Missense_Mutation_p.Q555K|ATXN2L_ENST00000564304.1_Missense_Mutation_p.Q561K|ATXN2L_ENST00000570200.1_Missense_Mutation_p.Q555K|ATXN2L_ENST00000340394.8_Missense_Mutation_p.Q555K|ATXN2L_ENST00000382686.4_Missense_Mutation_p.Q555K|ATXN2L_ENST00000325215.6_Missense_Mutation_p.Q555K|RP11-24N18.1_ENST00000563565.1_RNA NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 555 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CTTCCAGCTTCAGCCCAGTAG 0.493000 39 82 1.8453e-21 2.09134e-21 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) 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) tgctgctactgctgctgctgc 0.532000 T MLL ALL 4 29 0 0 1 0 0 LYZ 4069 broad.mit.edu 37 12 69746059 69746059 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr12:69746059C>T ENST00000261267.2 + 3 429 c.361C>T c.(361-363)Cca>Tca p.P121S LYZ_ENST00000549690.1_Intron NM_000239.2 NP_000230.1 P61626 LYSC_HUMAN lysozyme 121 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) TGTCCGTGATCCACAAGGCAT 0.368000 18 401 0 0 1 0 0 PUSL1 126789 broad.mit.edu 37 1 1246021 1246021 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr1:1246021C>T ENST00000379031.5 + 6 729 c.652C>T c.(652-654)Cgg>Tgg p.R218W PUSL1_ENST00000470520.1_3'UTR NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 218 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding lung(3)|skin(1)|urinary_tract(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CAGGAAGCTGCGGTTCTGGAA 0.592000 4 166 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74639685 74639685 + Missense_Mutation SNP G G C TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr17:74639685G>C ENST00000156626.7 - 1 235 c.36C>G c.(34-36)agC>agG p.S12R ST6GALNAC1_ENST00000589992.1_Missense_Mutation_p.S12R|ST6GALNAC1_ENST00000590878.1_5'UTR NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 12 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GGACGCCTTGGCTCAGGTGCC 0.557000 13 21 0 0 1 0 0 LYZ 4069 broad.mit.edu 37 12 69746969 69746969 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr12:69746969C>T ENST00000549690.1 + 3 363 c.338C>T c.(337-339)tCc>tTc p.S113F LYZ_ENST00000261267.2_Silent_p.V139V P61626 LYSC_HUMAN lysozyme 0 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) ACAGAGATGTCCGTCAGTATG 0.373000 31 630 0 0 1 0 0 CNOT10 25904 broad.mit.edu 37 3 32745388 32745388 + Silent SNP A A G TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:32745388A>G ENST00000328834.5 + 2 367 c.51A>G c.(49-51)acA>acG p.T17T CNOT10_ENST00000538368.1_5'UTR|CNOT10_ENST00000331889.6_Silent_p.T17T|CNOT10_ENST00000454516.2_Silent_p.T77T NM_015442.2 NP_056257.1 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 17 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 ATGAAGGCACAGGTCAGTCCT 0.423000 7 22 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40398380 40398380 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr19:40398380C>T ENST00000221347.6 - 14 6594 c.6587G>A c.(6586-6588)cGc>cAc p.R2196H NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2196 VWFD 5. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CACGCGCAGGCGCACGAAGCT 0.687000 17 141 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20944671 20944671 + Silent SNP T T C TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr16:20944671T>C ENST00000261383.3 - 62 12155 c.12156A>G c.(12154-12156)aaA>aaG p.K4052K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 4052 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCTCCCCAGGTTTCAGCCAAA 0.522000 66 39 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13415345 13415345 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:13415345C>T ENST00000254508.5 - 12 1542 c.1460G>A c.(1459-1461)tGg>tAg p.W487* NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 487 Poly-Ser. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TGACGAAGACCAGCTGAAGTT 0.587000 10 15 0 0 1 0 0 FAM71C 196472 broad.mit.edu 37 12 100042312 100042312 + Silent SNP G G C TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr12:100042312G>C ENST00000324341.1 + 1 782 c.360G>C c.(358-360)ctG>ctC p.L120L ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 120 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) TAACCAGGCTGCTTCCCTTGA 0.512000 20 52 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 73108737 73108737 + Missense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr6:73108737G>A ENST00000264839.7 + 29 4348 c.4348G>A c.(4348-4350)Gat>Aat p.D1450N RIMS1_ENST00000538414.1_Missense_Mutation_p.D407N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D1251N|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1390N|RIMS1_ENST00000348717.5_Missense_Mutation_p.D1384N|RIMS1_ENST00000517960.1_Missense_Mutation_p.D1384N|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1280N|RIMS1_ENST00000414192.2_Missense_Mutation_p.D128N|RIMS1_ENST00000517827.1_Missense_Mutation_p.D735N|RIMS1_ENST00000401910.3_Missense_Mutation_p.D921N|RIMS1_ENST00000425662.2_Missense_Mutation_p.D669N|RIMS1_ENST00000522291.1_Missense_Mutation_p.D1200N|RIMS1_ENST00000521978.1_Missense_Mutation_p.D1601N|RIMS1_ENST00000523963.1_Missense_Mutation_p.D726N Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1601 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) AAAAACCCTTGATCCTTTGTA 0.368000 27 22 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96798943 96798943 + Silent SNP G G C TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr14:96798943G>C ENST00000359933.4 - 9 2150 c.1257C>G c.(1255-1257)ctC>ctG p.L419L NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 419 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GAAGAGAAGAGAGACTATGAG 0.403000 28 34 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74329260 74329260 + Missense_Mutation SNP A A G TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr2:74329260A>G ENST00000409262.3 + 9 4940 c.4940A>G c.(4939-4941)tAt>tGt p.Y1647C NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1647 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTGTCCTCCTATGCCTACACG 0.652000 4 6 0 0 1 0 0 ACTR3B 57180 broad.mit.edu 37 7 152497630 152497630 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr7:152497630G>T ENST00000256001.8 + 3 249 c.115G>T c.(115-117)Gag>Tag p.E39* ACTR3B_ENST00000377776.3_Nonsense_Mutation_p.E39*|ACTR3B_ENST00000397282.2_5'UTR|ACTR3B_ENST00000537264.1_Intron NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 39 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) TGCCATCAGAGAGTCAGCAAA 0.368000 3 61 1 1 1 1 0 ZAN 7455 broad.mit.edu 37 7 100361665 100361665 + RNA SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr7:100361665C>T ENST00000542585.1 + 0 4261 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCCTGCTGCACGTGAAGGCCG 0.602000 37 51 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88040764 88040764 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:88040764C>T ENST00000319595.4 + 1 919 c.865C>T c.(865-867)Cgg>Tgg p.R289W NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 289 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity p.R289R(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TACAAGAGAACGGAAAGCAGC 0.378000 5 24 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155264471 155264471 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr1:155264471C>T ENST00000392414.3 - 6 787 c.674G>A c.(673-675)gGg>gAg p.G225E PKLR_ENST00000342741.4_Missense_Mutation_p.G256E NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 256 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CACCTGGGCCCCTGGCAAGTT 0.672000 14 25 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64640053 64640053 + Missense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:64640053G>A ENST00000498707.1 - 8 1634 c.1292C>T c.(1291-1293)aCg>aTg p.T431M ADAMTS9_ENST00000459780.1_Missense_Mutation_p.T431M|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T403M NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 431 Peptidase M12B. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ATGGGCGATCGTAAAAGCTGT 0.403000 71 90 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33518340 33518340 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr2:33518340C>T ENST00000404816.2 + 20 3579 c.3226C>T c.(3226-3228)Cac>Tac p.H1076Y LTBP1_ENST00000418533.2_Missense_Mutation_p.H750Y|LTBP1_ENST00000404525.1_Missense_Mutation_p.H697Y|LTBP1_ENST00000402934.1_Missense_Mutation_p.H697Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.H1077Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.H751Y|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000272273.5_Missense_Mutation_p.H16Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.H750Y Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1076 EGF-like 8; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGACCACAAGCACTGTAGAGG 0.423000 22 35 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30724739 30724739 + Silent SNP T T C TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr4:30724739T>C ENST00000361762.2 + 1 2703 c.1695T>C c.(1693-1695)ggT>ggC p.G565G PCDH7_ENST00000543491.1_Silent_p.G565G NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 565 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CAGACAGCGGTAAGAACGCCG 0.607000 20 26 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494473 55494473 + Silent SNP T T C rs1654491 TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr19:55494473T>C ENST00000543010.1 + 6 1550 c.1407T>C c.(1405-1407)gaT>gaC p.D469D NLRP2_ENST00000263437.6_Silent_p.D466D|NLRP2_ENST00000427260.2_Silent_p.D446D|NLRP2_ENST00000538819.1_Silent_p.D445D|NLRP2_ENST00000339757.7_Silent_p.D447D|NLRP2_ENST00000537859.1_Silent_p.D447D|NLRP2_ENST00000391721.4_Silent_p.D445D|NLRP2_ENST00000448584.2_Silent_p.D469D NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 469 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) ACCGAGAGGATCTGGAAAGGC 0.677000 19 36 0 0 1 0 0 AKR7A2 8574 broad.mit.edu 37 1 19630776 19630776 + Silent SNP A A G TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr1:19630776A>G ENST00000235835.3 - 7 1044 c.1023T>C c.(1021-1023)gaT>gaC p.D341D NM_003689.3 NP_003680.2 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 341 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GATTAAAGGCATCCACGACAG 0.597000 4 78 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 3 20 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19503196 19503196 + Missense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr5:19503196G>A ENST00000507958.1 - 13 2525 c.1535C>T c.(1534-1536)aCt>aTt p.T512I CDH18_ENST00000511273.1_Missense_Mutation_p.T512I|CDH18_ENST00000502796.1_Missense_Mutation_p.T512I|CDH18_ENST00000506372.1_Missense_Mutation_p.T512I|CDH18_ENST00000382275.1_Missense_Mutation_p.T512I|CDH18_ENST00000274170.4_Missense_Mutation_p.T512I Q13634 CAD18_HUMAN cadherin 18, type 2 512 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) ATCTTTATCAGTGGCACTGAT 0.338000 27 34 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161470145 161470145 + Missense_Mutation SNP G G A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr6:161470145G>A ENST00000392142.4 + 3 989 c.841G>A c.(841-843)Gac>Aac p.D281N MAP3K4_ENST00000366919.2_Missense_Mutation_p.D281N|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D281N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D281N NM_005922.2 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 281 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TAACGACCAGGACTTCTTTTT 0.428000 29 41 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56495733 56495733 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr12:56495733C>T ENST00000267101.3 + 28 4363 c.3923C>T c.(3922-3924)gCc>gTc p.A1308V ERBB3_ENST00000415288.2_Missense_Mutation_p.A1249V|ERBB3_ENST00000549832.1_Missense_Mutation_p.A428V|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000450146.2_Missense_Mutation_p.A665V|ERBB3_ENST00000553131.1_Missense_Mutation_p.A549V NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1308 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GTCCATTATGCCCGCCTAAAA 0.527000 4 140 0 0 1 0 0 KCTD18 130535 broad.mit.edu 37 2 201355082 201355082 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr2:201355082C>T ENST00000359878.3 - 7 1532 c.1022G>A c.(1021-1023)gGg>gAg p.G341E KCTD18_ENST00000409157.1_Missense_Mutation_p.G341E NM_152387.2 NP_689600.2 Q6PI47 KCD18_HUMAN potassium channel tetramerization domain containing 18 341 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 CTGAGGATGCCCAGGTGCCCC 0.632000 8 55 0 0 1 0 0 EFNB2 1948 broad.mit.edu 37 13 107145542 107145542 + Missense_Mutation SNP C C A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr13:107145542C>A ENST00000245323.4 - 5 997 c.848G>T c.(847-849)gGc>gTc p.G283V NM_004093.3 NP_004084.1 P52799 EFNB2_HUMAN ephrin-B2 283 cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) GGGCTCTGAGCCGTTGTTGTT 0.617000 23 31 2.89027e-11 3.10323e-11 1 1 0 PMS2P3 5387 broad.mit.edu 37 7 75142142 75142142 + RNA DEL A A - rs35519730 TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr7:75142142delA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 tctcaaaaagaaaaaaaaaaa 0.418 4 9 --- --- --- --- ABTB2 25841 broad.mit.edu 37 11 34378498 34378499 + Frame_Shift_Ins INS - - A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr11:34378498_34378499insA ENST00000435224.2 - 1 1056_1057 c.632_633insT c.(631-633)ttcfs p.F211fs ABTB2_ENST00000298992.2_Frame_Shift_Ins_p.F25fs NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 25 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CCATCCAGCGGAAAAAGCGACC 0.668 3 5 --- --- --- --- GP2 2813 broad.mit.edu 37 16 20329597 20329598 + Frame_Shift_Del DEL GT GT - TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr16:20329597_20329598delGT ENST00000302555.5 - 7 1311_1312 c.1162_1163delAC c.(1162-1164)accfs p.T388fs GP2_ENST00000341642.5_Frame_Shift_Del_p.T241fs|GP2_ENST00000381360.5_Frame_Shift_Del_p.T244fs|GP2_ENST00000381362.4_Frame_Shift_Del_p.T391fs P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 391 ZP. anchored to membrane|extracellular region|plasma membrane 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 AAACCGGGAGGTGTCCCCTTGT 0.500 15 55 --- --- --- --- SIGLEC12 89858 broad.mit.edu 37 19 52003600 52003600 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c45cc69-1933-4189-8f7f-66a2dc38862d 093de359-7643-4c9d-a88c-58c398319b9d g.chr19:52003600delC ENST00000598614.1 - 1 27 c.28delG c.(28-30)gaafs p.E11fs SIGLEC12_ENST00000291707.3_Intron NM_033329.1 NP_201586.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 0 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TCCCTCTCTTCATTTGCCCAT 0.622 11 14 --- --- --- ---