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 MTF1 4520 broad.mit.edu 37 1 38288086 38288086 + Missense_Mutation SNP G G A TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr1:38288086G>A ENST00000373036.4 - 9 1614 c.1474C>T c.(1474-1476)Ccg>Tcg p.P492S NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 492 Pro-rich. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ATGGGCTGCGGTGCCTGGGGG 0.572 3 33 --- --- --- --- RGL1 23179 broad.mit.edu 37 1 183711406 183711406 + Missense_Mutation SNP A A C TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr1:183711406A>C ENST00000304685.4 + 2 563 c.114A>C c.(112-114)gaA>gaC p.E38D RGL1_ENST00000536277.1_Missense_Mutation_p.E38D NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GAATATGGGAAGTTTTAAAGA 0.428 4 159 --- --- --- --- C2orf76 130355 broad.mit.edu 37 2 120078761 120078761 + Silent SNP G G A TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr2:120078761G>A ENST00000409466.2 - 4 674 c.153C>T c.(151-153)aaC>aaT p.N51N C2orf76_ENST00000409877.1_Silent_p.N51N|C2orf76_ENST00000409523.1_Silent_p.N51N|C2orf76_ENST00000334816.7_Silent_p.N51N Q3KRA6 CB076_HUMAN chromosome 2 open reading frame 76 51 large_intestine(1)|lung(3)|pancreas(1) 5 GTGGTGGCAGGTTGGTCCTTA 0.264 12 62 --- --- --- --- RAPGEF4 11069 broad.mit.edu 37 2 173832057 173832057 + Missense_Mutation SNP G G T TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr2:173832057G>T ENST00000264111.6 + 10 1073 c.886G>T c.(886-888)Gcc>Tcc p.A296S RAPGEF4_ENST00000535187.1_Missense_Mutation_p.A77S|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.A297S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A153S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A126S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A297S Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 297 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) GCACGAGGATGCCCCTTTGCC 0.522 10 26 --- --- --- --- SP3 6670 broad.mit.edu 37 2 174777809 174777809 + Missense_Mutation SNP C C G TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr2:174777809C>G ENST00000310015.6 - 6 2548 c.2018G>C c.(2017-2019)aGa>aCa p.R673T SP3_ENST00000455789.2_Missense_Mutation_p.R620T|SP3_ENST00000418194.2_Missense_Mutation_p.R605T NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 673 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) TGTATGTGTTCTTCTGTGCCT 0.368 4 74 --- --- --- --- DAW1 164781 broad.mit.edu 37 2 228786221 228786221 + Missense_Mutation SNP A A C TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr2:228786221A>C ENST00000309931.2 + 12 1240 c.1157A>C c.(1156-1158)cAc>cCc p.H386P DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.H371P NM_178821.1 NP_849143.1 dynein assembly factor with WDR repeat domains 1 CTTGAGGGGCACACTGATGAA 0.443 7 102 --- --- --- --- SCAP 22937 broad.mit.edu 37 3 47455847 47455847 + Missense_Mutation SNP A A C TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr3:47455847A>C ENST00000265565.5 - 22 3829 c.3417T>G c.(3415-3417)gaT>gaG p.D1139E SCAP_ENST00000545718.1_Missense_Mutation_p.D746E|SCAP_ENST00000441517.2_Missense_Mutation_p.D883E NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 1139 Interaction with SREBF2 (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) AGATGGCCCCATCTTGTCCTC 0.597 6 92 --- --- --- --- IBTK 25998 broad.mit.edu 37 6 82924057 82924057 + Missense_Mutation SNP C C A TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr6:82924057C>A ENST00000306270.7 - 12 2640 c.2091G>T c.(2089-2091)agG>agT p.R697S IBTK_ENST00000510291.1_Missense_Mutation_p.R697S|IBTK_ENST00000503631.1_Intron NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 697 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TGCTCTTCTGCCTCTCACTAA 0.328 12 73 --- --- --- --- LAMA2 3908 broad.mit.edu 37 6 129691092 129691092 + Missense_Mutation SNP A A T TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr6:129691092A>T ENST00000421865.2 + 34 4965 c.4916A>T c.(4915-4917)aAt>aTt p.N1639I NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1639 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCAGAGGGCAATCTGAATACA 0.448 3 107 --- --- --- --- SAMD3 154075 broad.mit.edu 37 6 130467207 130467207 + Silent SNP A A G TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr6:130467207A>G ENST00000368134.2 - 12 1751 c.1143T>C c.(1141-1143)aaT>aaC p.N381N SAMD3_ENST00000437477.2_Silent_p.N381N|SAMD3_ENST00000457563.2_Silent_p.N405N|SAMD3_ENST00000439090.2_Silent_p.N381N NM_001258275.1 NP_001245204.1 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 381 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GCAATACAATATTGATTGGAT 0.303 19 60 --- --- --- --- RAMP3 10268 broad.mit.edu 37 7 45222942 45222942 + Silent SNP C C T TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr7:45222942C>T ENST00000242249.4 + 3 416 c.378C>T c.(376-378)ccC>ccT p.P126P RAMP3_ENST00000481345.1_Silent_p.P126P|RAMP3_ENST00000496212.1_Silent_p.P126P NM_005856.2 NP_005847.1 O60896 RAMP3_HUMAN receptor (G protein-coupled) activity modifying protein 3 126 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) TCGTTATACCCGTCGTTCTGA 0.617 69 298 --- --- --- --- COPS6 10980 broad.mit.edu 37 7 99686916 99686916 + Missense_Mutation SNP T T G TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr7:99686916T>G ENST00000303904.3 + 2 117 c.80T>G c.(79-81)gTc>gGc p.V27G COPS6_ENST00000418625.1_Splice_Site_p.V26G NM_006833.4 NP_006824.2 Q7L5N1 CSN6_HUMAN COP9 signalosome subunit 6 27 cullin deneddylation|interspecies interaction between organisms cytoplasm|signalosome protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1) 12 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CCCTTAGTAGTCCCCAGCGTG 0.622 5 236 --- --- --- --- COPS6 10980 broad.mit.edu 37 7 99688238 99688238 + Silent SNP C C T rs11550651 TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr7:99688238C>T ENST00000303904.3 + 5 484 c.447C>T c.(445-447)ccC>ccT p.P149P COPS6_ENST00000418625.1_Silent_p.P148P NM_006833.4 NP_006824.2 Q7L5N1 CSN6_HUMAN COP9 signalosome subunit 6 149 cullin deneddylation|interspecies interaction between organisms cytoplasm|signalosome protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1) 12 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TCGAGAGCCCCCTCTTTCTGA 0.498 4 127 --- --- --- --- AHCYL2 23382 broad.mit.edu 37 7 129053510 129053510 + Missense_Mutation SNP C C A TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr7:129053510C>A ENST00000325006.3 + 12 1496 c.1442C>A c.(1441-1443)tCc>tAc p.S481Y AHCYL2_ENST00000474594.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S400Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S480Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S379Y NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 481 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 ATGGGACATTCCAACACAGAG 0.433 19 109 --- --- --- --- SNTG1 54212 broad.mit.edu 37 8 51363119 51363119 + Missense_Mutation SNP A A T TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr8:51363119A>T ENST00000522124.1 + 7 942 c.281A>T c.(280-282)gAa>gTa p.E94V SNTG1_ENST00000517473.1_Missense_Mutation_p.E94V|SNTG1_ENST00000518864.1_Missense_Mutation_p.E94V|SNTG1_ENST00000276467.5_Missense_Mutation_p.E94V NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 94 PDZ. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TTCACAGCGGAACTTTCAGGA 0.289 4 127 --- --- --- --- CPQ 10404 broad.mit.edu 37 8 97847312 97847312 + Missense_Mutation SNP G G A TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr8:97847312G>A ENST00000220763.5 + 3 755 c.545G>A c.(544-546)aGg>aAg p.R182K NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 182 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity AACTACTCAAGGACGGTGCAA 0.517 3 98 --- --- --- --- DENND3 22898 broad.mit.edu 37 8 142186811 142186811 + Missense_Mutation SNP T T C TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr8:142186811T>C ENST00000519811.1 + 15 2727 c.2657T>C c.(2656-2658)cTg>cCg p.L886P DENND3_ENST00000262585.2_Missense_Mutation_p.L806P|DENND3_ENST00000424248.1_Missense_Mutation_p.L754P A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 806 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CTTTGGCACCTGATGGTGAAG 0.542 3 127 --- --- --- --- BAI1 575 broad.mit.edu 37 8 143558610 143558610 + Missense_Mutation SNP G G A TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr8:143558610G>A ENST00000517894.1 + 5 2087 c.1193G>A c.(1192-1194)cGg>cAg p.R398Q BAI1_ENST00000323289.5_Missense_Mutation_p.R398Q O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 398 TSP type-1 2. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CGCGAGCAGCGGCTGTGCAAC 0.731 3 65 --- --- --- --- EXT2 2132 broad.mit.edu 37 11 44228397 44228397 + Missense_Mutation SNP A A T TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr11:44228397A>T ENST00000395673.3 + 10 1705 c.1649A>T c.(1648-1650)aAc>aTc p.N550I EXT2_ENST00000533608.1_Missense_Mutation_p.N517I|EXT2_ENST00000358681.4_Missense_Mutation_p.N527I|EXT2_ENST00000343631.3_Missense_Mutation_p.N517I NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 517 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity p.N517S(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 ACTGCTGAAAACAAGTTAAGT 0.403 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 4 129 --- --- --- --- C11orf84 144097 broad.mit.edu 37 11 63581248 63581248 + Silent SNP G G A TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr11:63581248G>A ENST00000294244.4 + 1 389 c.90G>A c.(88-90)gtG>gtA p.V30V NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 30 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 AGGCCATGGTGGTGGCCGTAA 0.687 3 49 --- --- --- --- PHLDB1 23187 broad.mit.edu 37 11 118498834 118498834 + Missense_Mutation SNP G G T rs141245340 TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr11:118498834G>T ENST00000361417.2 + 7 1706 c.1295G>T c.(1294-1296)gGg>gTg p.G432V PHLDB1_ENST00000356063.5_Missense_Mutation_p.G432V NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 432 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TTTTCAGATGGGTTAGCCACC 0.642 5 171 --- --- --- --- ANKRD33 341405 broad.mit.edu 37 12 52284995 52284995 + Missense_Mutation SNP G G A TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr12:52284995G>A ENST00000301190.6 + 5 1492 c.1265G>A c.(1264-1266)gGa>gAa p.G422E ANKRD33_ENST00000538991.1_Silent_p.R161R|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Silent_p.R230R NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 0 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) AGTCCTTCAGGACACCAAAGT 0.597 3 64 --- --- --- --- RAB35 11021 broad.mit.edu 37 12 120536625 120536625 + Missense_Mutation SNP T T C TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr12:120536625T>C ENST00000229340.5 - 5 655 c.467A>G c.(466-468)aAc>aGc p.N156S RAB35_ENST00000534951.1_Intron|RAB35_ENST00000432953.2_Intron|RAB35_ENST00000543364.1_5'UTR NM_001167606.1|NM_006861.6 NP_001161078.1|NP_006852.1 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 156 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) CTCTTCCACGTTGACATTCTC 0.597 3 59 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39263499 39263499 + Missense_Mutation SNP G G C TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr13:39263499G>C ENST00000280481.7 + 1 2234 c.2018G>C c.(2017-2019)aGa>aCa p.R673T NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 673 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTCACATTTAGAGTCCAGGAT 0.562 5 143 --- --- --- --- FURIN 5045 broad.mit.edu 37 15 91422745 91422745 + Silent SNP C C T TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr15:91422745C>T ENST00000268171.3 + 10 1404 c.1125C>T c.(1123-1125)gcC>gcT p.A375A NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 375 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CCTTAGCAGCCGGCATCATTG 0.617 17 120 --- --- --- --- CCL4L2 388372 broad.mit.edu 37 17 34641448 34641448 + Splice_Site SNP A A G TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr17:34641448A>G ENST00000394465.2 + 3 508 c.e3-1 TBC1D3C_ENST00000308078.7_Intron|CCL4L2_ENST00000482104.1_3'UTR|TBC1D3H_ENST00000400684.4_Intron|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3C_ENST00000451448.2_Intron|TBC1D3H_ENST00000535446.1_Intron Q8NHW4 CC4L_HUMAN chemokine (C-C motif) ligand 4-like 2 chemotaxis|immune response|inflammatory response extracellular space chemokine activity p.?(1) endometrium(1) 1 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTTGTTCTACAGATTCCAAAC 0.522 3 137 --- --- --- --- CDC6 990 broad.mit.edu 37 17 38447897 38447897 + Missense_Mutation SNP A A G TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr17:38447897A>G ENST00000209728.4 + 4 1108 c.637A>G c.(637-639)Agc>Ggc p.S213G NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 213 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 TGCCTGCTTAAGCCGGATTCT 0.408 9 102 --- --- --- --- CPAMD8 27151 broad.mit.edu 37 19 17068665 17068665 + Missense_Mutation SNP G G C TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr19:17068665G>C ENST00000443236.1 - 19 2446 c.2415C>G c.(2413-2415)atC>atG p.I805M CPAMD8_ENST00000388925.4_3'UTR NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 758 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TAATGTACCTGATGTTGAGAC 0.438 5 345 --- --- --- --- ATP9A 10079 broad.mit.edu 37 20 50234090 50234090 + Missense_Mutation SNP T T C TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr20:50234090T>C ENST00000338821.5 - 22 2618 c.2354A>G c.(2353-2355)gAc>gGc p.D785G ATP9A_ENST00000311637.5_Missense_Mutation_p.D649G|ATP9A_ENST00000402822.1_Missense_Mutation_p.D664G NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 785 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ATTGCCTCCGTCCCCTGCGAG 0.517 3 27 --- --- --- --- IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3e100b0-9027-432d-9ab6-2690e7753289 0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H NM_001282387.1 NP_001269316.1 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393 Mis gliobastoma 23 93 --- --- --- ---