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 PBX1 5087 broad.mit.edu 37 1 164789324 164789324 + Missense_Mutation SNP T T G TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr1:164789324T>G ENST00000420696.2 + 7 1201 c.1013T>G c.(1012-1014)tTt>tGt p.F338C PBX1_ENST00000560641.1_Missense_Mutation_p.F233C|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C|PBX1_ENST00000540236.1_Missense_Mutation_p.F338C|PBX1_ENST00000367897.1_Intron NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 338 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding p.F338C(1) EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 TCCAGTTCTTTTAACATGTCA 0.473 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 20 131 --- --- --- --- FER1L5 90342 broad.mit.edu 37 2 97369281 97369281 + RNA SNP G G A TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr2:97369281G>A ENST00000457909.1 + 0 5216 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane p.E1941K(1) NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 GATGAGCCTGGAGATTCTGTC 0.577 7 57 --- --- --- --- SCN7A 6332 broad.mit.edu 37 2 167304172 167304172 + Missense_Mutation SNP G G T TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr2:167304172G>T ENST00000409855.1 - 11 1463 c.1337C>A c.(1336-1338)aCa>aAa p.T446K NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 446 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.T446K(3) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TGATGTGTCTGTGGAAATTGG 0.378 45 149 --- --- --- --- NBEAL2 23218 broad.mit.edu 37 3 47036899 47036899 + Silent SNP A A G TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr3:47036899A>G ENST00000450053.3 + 13 1853 c.1674A>G c.(1672-1674)gcA>gcG p.A558A NBEAL2_ENST00000292309.5_Silent_p.A558A|NBEAL2_ENST00000383740.2_5'UTR NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 558 binding p.A119A(1)|p.A558A(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CCCGACACGCAGGTGCTGTCA 0.632 17 35 --- --- --- --- DOCK3 1795 broad.mit.edu 37 3 51347719 51347719 + Silent SNP C C T TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr3:51347719C>T ENST00000266037.9 + 28 3002 c.2979C>T c.(2977-2979)ttC>ttT p.F993F NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 993 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.F993F(2)|p.F982F(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGAGTGTCTTCCCTCGGGACT 0.463 8 12 --- --- --- --- MME 4311 broad.mit.edu 37 3 154860109 154860109 + Missense_Mutation SNP C C A TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr3:154860109C>A ENST00000460393.1 + 12 1298 c.1178C>A c.(1177-1179)gCt>gAt p.A393D MME_ENST00000493237.1_Missense_Mutation_p.A393D|MME_ENST00000360490.2_Missense_Mutation_p.A393D|MME_ENST00000492661.1_Missense_Mutation_p.A393D|MME_ENST00000462745.1_Missense_Mutation_p.A393D NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 393 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.A393D(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TCCAGAAATGCTTTCCGCAAG 0.378 10 166 --- --- --- --- SKIV2L 6499 broad.mit.edu 37 6 31930258 31930258 + Missense_Mutation SNP G G C TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr6:31930258G>C ENST00000375394.2 + 11 1220 c.1107G>C c.(1105-1107)aaG>aaC p.K369N SKIV2L_ENST00000544581.1_Missense_Mutation_p.K176N NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 369 Helicase ATP-binding. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding p.K369N(2) breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GCAACCAGAAGTTCCGGGACT 0.587 48 93 --- --- --- --- PKHD1 5314 broad.mit.edu 37 6 51524058 51524058 + Silent SNP G G A TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr6:51524058G>A ENST00000371117.3 - 61 11141 c.10866C>T c.(10864-10866)tgC>tgT p.C3622C NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3622 C -> Y (in ARPKD). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.C3622C(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TCACAGTAGGGCAATTGCGCT 0.458 62 151 --- --- --- --- SP4 6671 broad.mit.edu 37 7 21469876 21469876 + Missense_Mutation SNP C C G TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr7:21469876C>G ENST00000222584.3 + 3 1311 c.1093C>G c.(1093-1095)Cct>Gct p.P365A NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 365 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding p.P365A(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 ATCTCAAACACCTGCTGCTAC 0.468 8 144 --- --- --- --- GLI3 2737 broad.mit.edu 37 7 42262830 42262830 + Missense_Mutation SNP G G C TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr7:42262830G>C ENST00000395925.3 - 2 107 c.23C>G c.(22-24)tCc>tGc p.S8C GLI3_ENST00000437480.1_Missense_Mutation_p.S8C NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 8 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S8C(2) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 AGTGGTCGTGGAGCTGTGGGA 0.453 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 11 161 --- --- --- --- AUTS2 26053 broad.mit.edu 37 7 70228041 70228041 + Missense_Mutation SNP C C A TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr7:70228041C>A ENST00000342771.4 + 7 1249 c.928C>A c.(928-930)Cag>Aag p.Q310K AUTS2_ENST00000406775.2_Missense_Mutation_p.Q310K NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 310 p.Q310K(1) breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ACCCCAGCCGCAGACGGAGCC 0.607 3 38 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8449746 8449746 + Missense_Mutation SNP G G A TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr9:8449746G>A ENST00000381196.4 - 31 4510 c.3967C>T c.(3967-3969)Cgc>Tgc p.R1323C PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1323 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R794C(1)|p.R1323C(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AAGTTAAGGCGCCTCAGTTCT 0.463 TSP Lung(15;0.13) 7 291 --- --- --- --- TRPM6 140803 broad.mit.edu 37 9 77448965 77448965 + Silent SNP T T C TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr9:77448965T>C ENST00000451710.3 - 6 855 c.618A>G c.(616-618)ggA>ggG p.G206G TRPM6_ENST00000361255.3_Silent_p.G201G|TRPM6_ENST00000449912.2_Silent_p.G201G|TRPM6_ENST00000376871.3_Silent_p.G206G|TRPM6_ENST00000376864.4_Silent_p.G206G|TRPM6_ENST00000359047.2_Silent_p.G206G|TRPM6_ENST00000360774.1_Silent_p.G206G|TRPM6_ENST00000376872.3_Silent_p.G206G|TRPM6_ENST00000483186.1_5'UTR Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 206 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.G206G(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AAGGAGGGATTCCAACTGTCC 0.418 60 122 --- --- --- --- SYK 6850 broad.mit.edu 37 9 93606305 93606305 + Missense_Mutation SNP G G A TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr9:93606305G>A ENST00000375754.4 + 2 273 c.125G>A c.(124-126)cGc>cAc p.R42H SYK_ENST00000375746.1_Missense_Mutation_p.R42H|SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000375747.1_Missense_Mutation_p.R42H|SYK_ENST00000476708.1_3'UTR NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 42 SH2 1. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity p.R42H(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TATTTGCTGCGCCAGAGCCGC 0.617 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 6 13 --- --- --- --- CARD9 64170 broad.mit.edu 37 9 139262118 139262118 + Missense_Mutation SNP T T C TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr9:139262118T>C ENST00000371732.5 - 8 1405 c.1240A>G c.(1240-1242)Agg>Ggg p.R414G CARD9_ENST00000371734.3_Missense_Mutation_p.R414G NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 414 positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity p.R414G(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) TGCTGCCGCCTGAGCCTGCCC 0.721 2 12 --- --- --- --- OR4A16 81327 broad.mit.edu 37 11 55110960 55110960 + Missense_Mutation SNP G G T TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr11:55110960G>T ENST00000314721.2 + 1 334 c.284G>T c.(283-285)tGc>tTc p.C95F NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C95F(1) NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TTGTCAGCTTGCATGGGTCAG 0.453 10 551 --- --- --- --- ATM 472 broad.mit.edu 37 11 108235812 108235812 + Missense_Mutation SNP C C T TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr11:108235812C>T ENST00000278616.4 + 62 9239 c.8854C>T c.(8854-8856)Ctt>Ttt p.L2952F C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2952F|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2952 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.L2952F(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TGTTTAGGTCCTTCTATATGA 0.368 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 4 102 --- --- --- --- GPALPP1 55425 broad.mit.edu 37 13 45594565 45594565 + Splice_Site SNP T T A TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr13:45594565T>A ENST00000361121.2 + 7 839 c.e7+2 GPALPP1_ENST00000379151.4_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_Splice_Site GPALPP motifs containing 1 p.?(1) TCATACAATGTAAGTAAGAAA 0.418 5 91 --- --- --- --- KLC1 3831 broad.mit.edu 37 14 104124043 104124043 + Missense_Mutation SNP T T C TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr14:104124043T>C ENST00000389744.4 + 3 691 c.422T>C c.(421-423)cTg>cCg p.L141P KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000557450.1_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P|KLC1_ENST00000348520.6_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P|KLC1_ENST00000347839.6_Missense_Mutation_p.L141P Q07866 KLC1_HUMAN kinesin light chain 1 141 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding p.L141P(1) KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) GTGGCTCAACTGGAGGAGGAG 0.502 3 77 --- --- --- --- CCDC178 374864 broad.mit.edu 37 18 30903561 30903561 + Missense_Mutation SNP C C T TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr18:30903561C>T ENST00000383096.3 - 11 1098 c.916G>A c.(916-918)Gaa>Aaa p.E306K CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E306K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E306K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E306K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E306K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E306K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E306K coiled-coil domain containing 178 p.E306K(2) AAAGCTTCTTCAAGTTCTTCA 0.308 9 47 --- --- --- --- USP29 57663 broad.mit.edu 37 19 57640708 57640708 + Missense_Mutation SNP T T C TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr19:57640708T>C ENST00000254181.4 + 4 1119 c.665T>C c.(664-666)tTg>tCg p.L222S USP29_ENST00000598197.1_Missense_Mutation_p.L222S NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 222 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.L222S(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GATAGAGATTTGAAACTCGGG 0.363 55 139 --- --- --- --- SEZ6L 23544 broad.mit.edu 37 22 26688423 26688423 + Nonsense_Mutation SNP C C A TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr22:26688423C>A ENST00000529632.2 + 2 342 c.146C>A c.(145-147)tCa>tAa p.S49* SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49* NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 49 endoplasmic reticulum membrane|integral to membrane p.S49*(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTCCTGCCCTCAGGAGCCCCG 0.582 31 66 --- --- --- --- DUSP18 150290 broad.mit.edu 37 22 31059967 31059967 + Silent SNP G G A TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr22:31059967G>A ENST00000403268.1 - 2 494 c.24C>T c.(22-24)ttC>ttT p.F8F DUSP18_ENST00000404885.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000334679.3_Silent_p.F8F|DUSP18_ENST00000407308.1_Silent_p.F8F Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 8 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.F8F(2) large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 ACTGAACTGGGAAGGCACACG 0.562 16 36 --- --- --- --- GARS 2617 broad.mit.edu 37 7 30661990 30661992 + In_Frame_Del DEL AAG AAG - TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr7:30661990_30661992delAAG ENST00000389266.3 + 12 1766_1768 c.1525_1527delAAG c.(1525-1527)aagdel p.K510del NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 510 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TAAGGCATATAAGAAGGATGCAA 0.404 8 322 --- --- --- --- MYEOV 26579 broad.mit.edu 37 11 69063421 69063425 + Frame_Shift_Del DEL CTTTA CTTTA - TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr11:69063421_69063425delCTTTA ENST00000535407.1 + 2 973_977 c.330_334delCTTTA c.(328-336)gcctttagafs p.FR111fs MYEOV_ENST00000308946.3_Frame_Shift_Del_p.FR169fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.FR169fs Q96EZ4 MYEOV_HUMAN myeloma overexpressed 169 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) TGGGAGAAGCCTTTAGAGTGGGCGT 0.585 90 356 --- --- --- --- PPP5C 5536 broad.mit.edu 37 19 46850390 46850400 + Frame_Shift_Del DEL GAGCCCCCCCG GAGCCCCCCCG - rs150667064 byFrequency TCGA-EJ-5507-01A-01D-1576-08 TCGA-EJ-5507-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5048e04-2519-42cc-8990-41612b2ad528 8285618d-a4b6-4641-b39e-18b2d8a40bcc g.chr19:46850390_46850400delGAGCCCCCCCG ENST00000012443.4 + 1 140_150 c.37_47delGAGCCCCCCCG c.(37-48)gagcccccccggfs p.EPPR13fs PPP5C_ENST00000391919.1_5'UTR NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 13 mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity p.R16fs*7(1)|p.P14H(1) endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) TGAGTGTGCTGAGCCCCCCCGGGACGAACCC 0.687 OREG0025570 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 9 --- --- --- ---