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 SLC45A1 50651 broad.mit.edu 37 1 8390957 8390957 + Silent SNP C C T TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr1:8390957C>T ENST00000471889.1 + 5 1789 c.1404C>T c.(1402-1404)ccC>ccT p.P468P SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.P502P|SLC45A1_ENST00000289877.8_Silent_p.P468P Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 468 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GAGGGGGTCCCGAAACCAGCA 0.607 5 97 --- --- --- --- C1orf127 148345 broad.mit.edu 37 1 11015082 11015082 + Missense_Mutation SNP C C A TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr1:11015082C>A ENST00000377004.4 - 9 939 c.940G>T c.(940-942)Gtc>Ttc p.V314F C1orf127_ENST00000377008.4_Missense_Mutation_p.V147F NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 165 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) GGAATGCTGACCACCACAAAG 0.557 4 60 --- --- --- --- PPFIA4 8497 broad.mit.edu 37 1 203013195 203013195 + Missense_Mutation SNP T T A TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr1:203013195T>A ENST00000367240.2 + 4 1000 c.473T>A c.(472-474)tTt>tAt p.F158Y PPFIA4_ENST00000447715.2_Missense_Mutation_p.F158Y|PPFIA4_ENST00000295706.4_5'UTR O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 0 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 AAGTCACTGTTTGAGCACCAC 0.627 3 21 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099562 168099562 + Missense_Mutation SNP C C G TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr2:168099562C>G ENST00000409195.1 + 9 1749 c.1660C>G c.(1660-1662)Caa>Gaa p.Q554E XIRP2_ENST00000409273.1_Missense_Mutation_p.Q332E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q554E NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 379 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGACAGTTCTCAAAAAGATCT 0.398 5 49 --- --- --- --- CCDC141 285025 broad.mit.edu 37 2 179730612 179730612 + Missense_Mutation SNP T T C TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr2:179730612T>C ENST00000420890.2 - 17 2723 c.2606A>G c.(2605-2607)cAg>cGg p.Q869R CCDC141_ENST00000295723.5_Missense_Mutation_p.Q294R NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 294 Ig-like. protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CAGCTGCTGCTGTAGGTTCTT 0.502 6 173 --- --- --- --- TEX264 51368 broad.mit.edu 37 3 51708534 51708534 + Missense_Mutation SNP C C T TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr3:51708534C>T ENST00000415259.1 + 2 1295 c.214C>T c.(214-216)Ccc>Tcc p.P72S TEX264_ENST00000457573.1_Missense_Mutation_p.P72S|TEX264_ENST00000395057.1_Missense_Mutation_p.P72S|TEX264_ENST00000416589.1_Missense_Mutation_p.P72S|TEX264_ENST00000341333.5_Missense_Mutation_p.P72S Q9Y6I9 TX264_HUMAN testis expressed 264 72 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) CAGCATCTCTCCCAAGCTCCG 0.597 5 39 --- --- --- --- RYBP 23429 broad.mit.edu 37 3 72428576 72428576 + Missense_Mutation SNP T T G TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr3:72428576T>G ENST00000477973.2 - 2 425 c.426A>C c.(424-426)aaA>aaC p.K142N NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) GATCCGAGGTTTTCTGAAATG 0.368 6 37 --- --- --- --- NXPE3 91775 broad.mit.edu 37 3 101520287 101520287 + Missense_Mutation SNP C C G TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr3:101520287C>G ENST00000422132.1 + 2 499 c.302C>G c.(301-303)aCt>aGt p.T101S NXPE3_ENST00000273347.5_Missense_Mutation_p.T101S|NXPE3_ENST00000477909.1_Missense_Mutation_p.T101S|NXPE3_ENST00000491511.2_Missense_Mutation_p.T101S neurexophilin and PC-esterase domain family, member 3 GTGAAGAGCACTGACCCTTCT 0.552 8 95 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21491473 21491473 + RNA SNP C C T TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr5:21491473C>T ENST00000607545.1 + 0 179 NR_027026.1 GTAACCAGTTCAAGTTGGAAG 0.542 4 47 --- --- --- --- COL4A3BP 10087 broad.mit.edu 37 5 74722233 74722233 + Missense_Mutation SNP G G T TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr5:74722233G>T ENST00000380494.5 - 5 1096 c.803C>A c.(802-804)gCa>gAa p.A268E COL4A3BP_ENST00000405807.4_Missense_Mutation_p.A140E|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.A140E NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 140 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) GTAGCCACTTGCTCCAGACAC 0.398 5 77 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30571928 30571928 + Missense_Mutation SNP C C A TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr6:30571928C>A ENST00000376511.2 - 14 1917 c.1365G>T c.(1363-1365)atG>atT p.M455I NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 455 Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 CCTTCTCCTCCATGTTATCAT 0.557 6 144 --- --- --- --- KIAA1586 57691 broad.mit.edu 37 6 56918134 56918134 + Silent SNP A A G TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr6:56918134A>G ENST00000370733.4 + 4 1044 c.837A>G c.(835-837)gtA>gtG p.V279V KIAA1586_ENST00000545356.1_Silent_p.V252V NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 279 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ATGGAGAGGTAAATTGTTTAA 0.303 4 43 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84896094 84896094 + Missense_Mutation SNP T T C TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr6:84896094T>C ENST00000403245.3 - 12 1471 c.1357A>G c.(1357-1359)Act>Gct p.T453A KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.T377A NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 453 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) GAATTAACAGTTATTTTTTTC 0.294 5 72 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 3263667 3263667 + Silent SNP C C T TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr8:3263667C>T ENST00000520002.1 - 16 2706 c.2151G>A c.(2149-2151)ggG>ggA p.G717G CSMD1_ENST00000537824.1_Silent_p.G716G|CSMD1_ENST00000539096.1_Silent_p.G716G|CSMD1_ENST00000400186.3_Silent_p.G717G|CSMD1_ENST00000542608.1_Silent_p.G716G|CSMD1_ENST00000602723.1_Silent_p.G717G|CSMD1_ENST00000602557.1_Silent_p.G717G Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 717 Sushi 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAACCGAGCTCCCGAGTAGAA 0.478 3 18 --- --- --- --- DCAF4L2 138009 broad.mit.edu 37 8 88885613 88885613 + Missense_Mutation SNP G G A TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr8:88885613G>A ENST00000319675.3 - 1 683 c.587C>T c.(586-588)gCg>gTg p.A196V NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 196 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AGAGTGATACGCGTGGATGCT 0.557 5 108 --- --- --- --- UBQLN1 29979 broad.mit.edu 37 9 86293436 86293436 + Missense_Mutation SNP T T G TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr9:86293436T>G ENST00000376395.4 - 5 1313 c.790A>C c.(790-792)Agc>Cgc p.S264R UBQLN1_ENST00000257468.7_Missense_Mutation_p.S264R NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 264 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 CCTGGGATGCTTTCTAGGTTG 0.473 12 417 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64936221 64936221 + Nonsense_Mutation SNP G G A TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr10:64936221G>A ENST00000399262.2 - 24 7455 c.7237C>T c.(7237-7239)Caa>Taa p.Q2413* JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q2176*|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q2231* NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2413 JmjC. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TCAAGGCCTTGTTCTTTTGAA 0.333 4 48 --- --- --- --- NAT10 55226 broad.mit.edu 37 11 34162694 34162694 + Missense_Mutation SNP T T C TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr11:34162694T>C ENST00000257829.3 + 25 2857 c.2651T>C c.(2650-2652)aTt>aCt p.I884T NAT10_ENST00000531159.2_Missense_Mutation_p.I812T|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 884 Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GAAAAGGAGATTGAGCTGCCC 0.542 7 210 --- --- --- --- ATF7IP 55729 broad.mit.edu 37 12 14613530 14613530 + Missense_Mutation SNP C C T TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr12:14613530C>T ENST00000544627.1 + 9 2604 c.2284C>T c.(2284-2286)Cct>Tct p.P762S ATF7IP_ENST00000543189.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P754S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P754S|ATF7IP_ENST00000541654.1_3'UTR Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 754 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GTCAGTTCTTCCTGCACCCAA 0.473 15 105 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23905654 23905654 + Missense_Mutation SNP T T G TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr13:23905654T>G ENST00000382298.3 - 10 12949 c.12361A>C c.(12361-12363)Att>Ctt p.I4121L SACS_ENST00000402364.1_Missense_Mutation_p.I3371L|SACS_ENST00000382292.3_Missense_Mutation_p.I4121L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4121 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGCATAGCAATTAAATATGAA 0.358 4 96 --- --- --- --- MYO16 23026 broad.mit.edu 37 13 109365050 109365050 + Missense_Mutation SNP G G A rs111464054 byFrequency TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr13:109365050G>A ENST00000356711.2 + 3 394 c.268G>A c.(268-270)Gtc>Atc p.V90I MYO16_ENST00000357550.2_Missense_Mutation_p.V90I|MYO16_ENST00000251041.5_Missense_Mutation_p.V90I NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 90 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCACACCCTCGTCTCCTCGGG 0.577 4 88 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 21170750 21170750 + Missense_Mutation SNP C C T TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr16:21170750C>T ENST00000261383.3 - 1 12 c.13G>A c.(13-15)Ggg>Agg p.G5R DNAH3_ENST00000415178.1_Missense_Mutation_p.G5R|TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000572599.1_Intron NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 5 Stem (By similarity). 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) TCGAGGCGCCCTGTAGCTCCC 0.632 4 75 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51173693 51173693 + Missense_Mutation SNP C C T TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr16:51173693C>T ENST00000440970.1 - 2 2580 c.2149G>A c.(2149-2151)Gat>Aat p.D717N SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.D814N|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 814 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) TTTTTCTCATCAAAGGAACCT 0.512 8 175 --- --- --- --- ACE 1636 broad.mit.edu 37 17 61566347 61566347 + Missense_Mutation SNP C C T TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr17:61566347C>T ENST00000577647.1 + 6 818 c.773C>T c.(772-774)cCa>cTa p.P258L ACE_ENST00000290866.4_Missense_Mutation_p.P832L|ACE_ENST00000290863.6_Missense_Mutation_p.P258L|ACE_ENST00000428043.1_Missense_Mutation_p.P832L|ACE_ENST00000413513.3_Missense_Mutation_p.P258L|ACE_ENST00000421982.2_Intron|ACE_ENST00000490216.2_Missense_Mutation_p.P258L P12821 ACE_HUMAN angiotensin I converting enzyme 832 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TACGAGACACCATCCCTGGAG 0.612 8 31 --- --- --- --- SUGP2 10147 broad.mit.edu 37 19 19120892 19120892 + Silent SNP G G A TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 379affa6-98e2-459e-ac52-5ce57f69e2dd bb8583d6-621a-4f59-87af-0a72dd30e1a6 g.chr19:19120892G>A ENST00000601879.1 - 5 2407 c.2110C>T c.(2110-2112)Cta>Tta p.L704L SUGP2_ENST00000452918.2_Silent_p.L704L|SUGP2_ENST00000600377.1_Silent_p.L718L|SUGP2_ENST00000337018.6_Silent_p.L704L|SUGP2_ENST00000456085.2_Silent_p.L473L Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 704 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CCTGAGGATAGGAGGGTCTGG 0.642 5 70 --- --- --- ---