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 LRRC36 55282 broad.mit.edu 37 16 67397504 67397504 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr16:67397504G>A ENST00000329956.6 + 6 608 c.589G>A c.(589-591)Gga>Aga p.G197R LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.G76R|LRRC36_ENST00000563189.1_Missense_Mutation_p.G76R NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 197 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CTCAAACAAAGGACTTTTTAT 0.403000 21 35 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48692763 48692763 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr17:48692763C>T ENST00000352832.5 + 25 5071 c.4699C>T c.(4699-4701)Cgg>Tgg p.R1567W CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1567W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1608W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1556W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1556W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1544W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1583W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1549W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1567W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1601W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1578W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1601W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1578W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1567W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1560W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1567W NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1601 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CTCCCGCTTCCGGCTCCTCGT 0.622000 16 48 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28825739 28825739 + Missense_Mutation SNP C C T rs148017311 byFrequency TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr2:28825739C>T ENST00000422425.2 + 38 2736 c.2692C>T c.(2692-2694)Cgg>Tgg p.R898W PLB1_ENST00000327757.5_Missense_Mutation_p.R909W|PLB1_ENST00000541605.1_5'UTR NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 909 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CACTATCATGCGGCAGGTGTT 0.607000 22 126 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1538159 1538159 + Silent SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr7:1538159C>T ENST00000389470.4 - 11 1697 c.1698G>A c.(1696-1698)ctG>ctA p.L566L INTS1_ENST00000404767.3_Silent_p.L438L Q8N201 INT1_HUMAN integrator complex subunit 1 438 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TGGTGGTGCCCAGGTTGTCCT 0.627000 5 46 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9388585 9388585 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr20:9388585G>A ENST00000378501.2 + 18 1648 c.1633G>A c.(1633-1635)Gag>Aag p.E545K PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.E557K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E557K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E545K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E545K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E545K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 545 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TGTAGAAGATGAGCAGGCGTG 0.428000 26 98 0 0 1 0 0 UTP14A 10813 broad.mit.edu 37 X 129060290 129060290 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chrX:129060290G>A ENST00000394422.3 + 14 2046 c.2018G>A c.(2017-2019)cGc>cAc p.R673H RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.R621H|UTP14A_ENST00000371051.5_Missense_Mutation_p.R619H|UTP14A_ENST00000371042.3_Missense_Mutation_p.R505H NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 673 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 AATGAGAAGCGCAACATCCAC 0.458000 OREG0019920 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 35 0 0 1 0 0 PSMB4 5692 broad.mit.edu 37 1 151372586 151372586 + Silent SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr1:151372586C>T ENST00000290541.6 + 2 324 c.270C>T c.(268-270)gtC>gtT p.V90V NM_002796.2 NP_002787.2 P28070 PSB4_HUMAN proteasome (prosome, macropain) subunit, beta type, 4 90 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TTATGCGAGTCAACAACAGTA 0.537000 36 193 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100963365 100963365 + Missense_Mutation SNP C C A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr3:100963365C>A ENST00000193391.7 - 13 1997 c.1810G>T c.(1810-1812)Ggg>Tgg p.G604W NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 604 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TGCCCAGACCCTGAACCTAAA 0.463000 21 113 2.32416e-17 2.49017e-17 1 1 0 OCA2 4948 broad.mit.edu 37 15 28090163 28090163 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr15:28090163C>T ENST00000354638.3 - 23 2529 c.2374G>A c.(2374-2376)Gtg>Atg p.V792M OCA2_ENST00000353809.5_Missense_Mutation_p.V768M NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 792 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CCTGCACACACGACGTTTGCC 0.403000 Oculocutaneous Albinism 11 26 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412777 105412777 + Missense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr14:105412777G>C ENST00000333244.5 - 7 9130 c.9011C>G c.(9010-9012)tCt>tGt p.S3004C AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3004 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) CTTCGGCGCAGACACATCCAC 0.592000 91 436 0 0 1 0 0 CEL 1056 broad.mit.edu 37 9 135946421 135946421 + Missense_Mutation SNP A A G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:135946421A>G ENST00000372080.4 + 11 1557 c.1541A>G c.(1540-1542)tAc>tGc p.Y514C CEL_ENST00000351304.7_Missense_Mutation_p.Y445C NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 511 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) TGGGAACCCTACACTACGGAA 0.612000 8 62 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45896398 45896398 + Missense_Mutation SNP G G T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr17:45896398G>T ENST00000007414.3 - 5 514 c.323C>A c.(322-324)gCc>gAc p.A108D OSBPL7_ENST00000392507.3_Missense_Mutation_p.A108D NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 108 PH. lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 AATGCGCTGGGCCTTTTTGTT 0.562000 6 79 0.00198382 0.00202056 1 1 0 CNTNAP3B 728577 broad.mit.edu 37 9 43737512 43737512 + Missense_Mutation SNP A A C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:43737512A>C ENST00000377564.3 + 3 775 c.382A>C c.(382-384)Agc>Cgc p.S128R CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S128R NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 128 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CCGAGAAGAAAGCATCTGGGT 0.413000 18 123 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5498681 5498681 + Silent SNP G G A rs139773413 TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr10:5498681G>A ENST00000355029.4 + 12 1657 c.1515G>A c.(1513-1515)tcG>tcA p.S505S NET1_ENST00000380359.3_Silent_p.S451S|NET1_ENST00000542715.1_Silent_p.S324S NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 505 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 CCTTCCAGTCGGCAGGCAGTC 0.612000 29 75 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90040955 90040955 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr5:90040955G>A ENST00000405460.2 + 51 10738 c.10642G>A c.(10642-10644)Gct>Act p.A3548T NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3548 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGTACCTTCTGCTTATGATGT 0.403000 73 94 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42079725 42079725 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr7:42079725G>A ENST00000395925.3 - 7 1024 c.940C>T c.(940-942)Ccc>Tcc p.P314S GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 314 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 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 AAGGAGTTGGGAGACGTCCTT 0.498000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 47 41 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42088212 42088212 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr7:42088212G>A ENST00000395925.3 - 5 641 c.557C>T c.(556-558)tCc>tTc p.S186F GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 186 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 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 GGGAGACTCGGAAGCAGCAGT 0.542000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 12 87 0 0 1 0 0 RIPK1 8737 broad.mit.edu 37 6 3113558 3113558 + Silent SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:3113558C>T ENST00000259808.4 + 11 2299 c.2001C>T c.(1999-2001)taC>taT p.Y667Y RIPK1_ENST00000380409.2_Silent_p.Y667Y|RIPK1_ENST00000541791.1_Silent_p.Y621Y Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 667 Death. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) GCTTGATTTACGTCAGCCAGA 0.557000 3 47 0 0 1 0 0 BBS10 79738 broad.mit.edu 37 12 76741101 76741101 + Missense_Mutation SNP T T G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr12:76741101T>G ENST00000393262.3 - 2 747 c.664A>C c.(664-666)Aat>Cat p.N222H NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 222 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 ACACCAACATTCAACTCTACA 0.403000 Bardet-Biedl syndrome 8 19 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 R -> Q (in dbSNP:rs36204273). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 20 11 0 0 1 0 0 SPI1 6688 broad.mit.edu 37 11 47380496 47380496 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr11:47380496G>A ENST00000378538.3 - 4 614 c.392C>T c.(391-393)tCa>tTa p.S131L SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.S131L|SPI1_ENST00000227163.4_Missense_Mutation_p.S132L NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 131 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) CTCCTCATCTGAGCTGGGCTG 0.692000 5 12 0 0 1 0 0 DAZAP2 9802 broad.mit.edu 37 12 51634129 51634129 + Nonsense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr12:51634129C>T ENST00000412716.3 + 2 632 c.16C>T c.(16-18)Caa>Taa p.Q6* DAZAP2_ENST00000439799.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000549555.1_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000425012.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000604900.1_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000449723.3_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549732.2_Nonsense_Mutation_p.Q6* Q15038 DAZP2_HUMAN DAZ associated protein 2 6 WW domain binding haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1) 6 TCTTTCAGGTCAATATCCAAC 0.493000 9 79 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24845619 24845619 + Missense_Mutation SNP C C A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr14:24845619C>A ENST00000413692.2 + 10 2509 c.2365C>A c.(2365-2367)Ccc>Acc p.P789T NFATC4_ENST00000553879.1_Missense_Mutation_p.P656T|NFATC4_ENST00000250373.4_Missense_Mutation_p.P726T|NFATC4_ENST00000424781.2_Missense_Mutation_p.P739T|NFATC4_ENST00000422617.3_Missense_Mutation_p.P714T|NFATC4_ENST00000555167.1_Missense_Mutation_p.P261T|NFATC4_ENST00000555590.1_Missense_Mutation_p.P739T|NFATC4_ENST00000554591.1_Missense_Mutation_p.P789T|NFATC4_ENST00000553469.1_Missense_Mutation_p.P758T|NFATC4_ENST00000556169.1_Missense_Mutation_p.P714T|NFATC4_ENST00000554050.1_Missense_Mutation_p.P726T|NFATC4_ENST00000554344.1_Missense_Mutation_p.P656T|NFATC4_ENST00000554661.1_Missense_Mutation_p.P656T|NFATC4_ENST00000555802.1_Missense_Mutation_p.P14T|NFATC4_ENST00000539237.2_Missense_Mutation_p.P758T|NFATC4_ENST00000557767.1_Missense_Mutation_p.P14T|NFATC4_ENST00000553708.1_Missense_Mutation_p.P726T|NFATC4_ENST00000557451.1_Missense_Mutation_p.P656T|NFATC4_ENST00000555453.1_Missense_Mutation_p.P714T|NFATC4_ENST00000554966.1_Missense_Mutation_p.P739T|NFATC4_ENST00000556759.1_Missense_Mutation_p.P261T|NFATC4_ENST00000555393.1_Missense_Mutation_p.P14T|NFATC4_ENST00000556279.1_Missense_Mutation_p.P758T|NFATC4_ENST00000554473.1_Missense_Mutation_p.P261T NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 726 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CCCCTCCTATCCCCATGAAGA 0.607000 15 116 0.0383953 0.0386294 1 1 0 ZNF23 7571 broad.mit.edu 37 16 71483481 71483481 + Silent SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr16:71483481G>A ENST00000393539.2 - 6 1260 c.447C>T c.(445-447)atC>atT p.I149I RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Silent_p.I149I|ZNF23_ENST00000357254.4_Silent_p.I149I|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.I91I|ZNF23_ENST00000564528.1_Silent_p.I91I NM_145911.1 NP_666016.1 P17027 ZNF23_HUMAN zinc finger protein 23 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TATCAAAGCTGATGGATTTCC 0.413000 15 73 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40397466 40397466 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr2:40397466G>A ENST00000542756.1 - 6 2001 c.1978C>T c.(1978-1980)Cat>Tat p.H660Y SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.H657Y|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.H660Y|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000403092.1_Missense_Mutation_p.H665Y|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.H665Y|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 665 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCTCTAGCATGAACCTTCCTG 0.418000 11 28 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2143662 2143662 + Silent SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr16:2143662G>A ENST00000262304.4 - 37 11107 c.10899C>T c.(10897-10899)agC>agT p.S3633S RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.S3632S NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3633 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCACAGCCGGGCTCTCTACCA 0.642000 3 8 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62291075 62291075 + Missense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr17:62291075G>C ENST00000258991.3 - 2 587 c.503C>G c.(502-504)tCt>tGt p.S168C TEX2_ENST00000583097.1_Missense_Mutation_p.S168C|TEX2_ENST00000584379.1_Missense_Mutation_p.S168C Q8IWB9 TEX2_HUMAN testis expressed 2 168 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) GGGAGACTTAGAAGGAGAGGA 0.557000 8 48 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52067886 52067886 + Nonsense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr10:52067886C>T ENST00000361781.2 - 10 1877 c.918G>A c.(916-918)tgG>tgA p.W306* SGMS1_ENST00000429490.1_Nonsense_Mutation_p.W137* NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 312 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TCCAGTGATACCACCAGAGTC 0.468000 16 70 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117704527 117704527 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:117704527C>T ENST00000368508.3 - 16 2647 c.2449G>A c.(2449-2451)Gaa>Aaa p.E817K GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E812K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 817 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGGGAACTTTCCCCATTTAGT 0.403000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 25 108 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202150039 202150039 + Splice_Site SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr2:202150039C>T ENST00000358485.4 + 8 1676 c.1481_splice c.e8+1 p.R494_splice CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Splice_Site_p.R351_splice|CASP8_ENST00000264275.5_Splice_Site_p.R452_splice|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Splice_Site_p.R420_splice|CASP8_ENST00000432109.2_Splice_Site_p.R435_splice NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 435 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.R452*(2)|p.R494*(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 GCGATGTCCTCGGTAAGTTTT 0.502000 HNSCC(4;0.00038) 27 34 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9810760 9810760 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr11:9810760C>T ENST00000256190.8 - 35 4965 c.4828G>A c.(4828-4830)Gac>Aac p.D1610N SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1610 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CCAGCCAGGTCAGAGTCTTCG 0.542000 37 65 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4110621 4110621 + Silent SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr19:4110621C>T ENST00000262948.5 - 3 589 c.336G>A c.(334-336)cgG>cgA p.R112R MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Silent_p.R15R NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 112 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGATCTGGTTCCGGATGGCCG 0.602000 12 58 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39801217 39801217 + Missense_Mutation SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr20:39801217C>G ENST00000373272.2 + 26 3467 c.3062C>G c.(3061-3063)tCc>tGc p.S1021C PLCG1_ENST00000244007.3_Missense_Mutation_p.S1021C|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.S1021C NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 1021 PI-PLC Y-box. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) CTGGATTCCTCCAACTACGAT 0.557000 9 39 0 0 1 0 0 CA8 767 broad.mit.edu 37 8 61192399 61192399 + Silent SNP T T C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr8:61192399T>C ENST00000317995.4 - 2 405 c.141A>G c.(139-141)gaA>gaG p.E47E NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 47 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) GAGACTGGTATTCCCCATTAG 0.403000 6 26 0 0 1 0 0 BTN2A2 10385 broad.mit.edu 37 6 26388400 26388400 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:26388400C>T ENST00000356709.4 + 4 713 c.602C>T c.(601-603)gCt>gTt p.A201V BTN2A2_ENST00000416795.2_Missense_Mutation_p.A201V|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A201V|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A85V NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 201 Ig-like C2-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 ATCGCTGATGCTGACGGCCTC 0.572000 26 99 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1558987 1558987 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr20:1558987G>A ENST00000381605.4 - 2 494 c.430C>T c.(430-432)Cgc>Tgc p.R144C RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144C|SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144C NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 144 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 TACTCACCGCGCACAGACAGC 0.552000 21 185 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91690634 91690634 + Missense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr7:91690634G>C ENST00000359028.2 + 24 5923 c.5698G>C c.(5698-5700)Gaa>Caa p.E1900Q AKAP9_ENST00000358100.2_Missense_Mutation_p.E1900Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1888Q|AKAP9_ENST00000491695.1_3'UTR Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1900 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACAGAAACAAGAAGCAACAGA 0.448000 T BRAF papillary thyroid 10 33 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179112101 179112101 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr1:179112101C>T ENST00000408940.3 - 1 78 c.79G>A c.(79-81)Gag>Aag p.E27K ABL2_ENST00000367623.4_Intron|ABL2_ENST00000504405.1_Missense_Mutation_p.E27K|ABL2_ENST00000512653.1_Missense_Mutation_p.E27K|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000344730.3_Missense_Mutation_p.E27K|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000511413.1_Intron NM_001168239.1 NP_001161711.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 0 CAP. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.E27K(1) breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TCTGAGGCCTCAGTGCACAGG 0.458000 T ETV6 AML 32 17 0 0 1 0 0 C9orf37 85026 broad.mit.edu 37 9 140510167 140510167 + Nonsense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:140510167G>C ENST00000371417.3 - 3 1025 c.485C>G c.(484-486)tCa>tGa p.S162* NM_032937.4 NP_116326.2 Q9H2J1 CI037_HUMAN chromosome 9 open reading frame 37 162 breast(1)|large_intestine(2) 3 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CTCCCCTGCTGAGAAACCCGC 0.642000 8 43 0 0 1 0 0 RABGAP1 23637 broad.mit.edu 37 9 125827663 125827663 + Missense_Mutation SNP A A G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:125827663A>G ENST00000373647.4 + 14 1965 c.1831A>G c.(1831-1833)Aac>Gac p.N611D RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 611 Rab-GAP TBC. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 CCGGGATATTAACCGAACATT 0.388000 4 157 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168890 142168890 + RNA SNP C C T rs143671051 by1000genomes TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr7:142168890C>T ENST00000454561.2 - 0 155 GGGCTTGGTCCTCCTGGGGAA 0.592000 5 17 0 0 1 0 0 EXOC6 54536 broad.mit.edu 37 10 94757357 94757357 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr10:94757357G>A ENST00000371552.4 + 19 2094 c.2065G>A c.(2065-2067)Gtc>Atc p.V689I EXOC6_ENST00000260762.6_Missense_Mutation_p.V694I|EXOC6_ENST00000443748.2_Missense_Mutation_p.V591I|EXOC6_ENST00000371547.4_Missense_Mutation_p.V710I NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 694 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) TAACTTAGATGTCATACAGTG 0.348000 12 45 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39921284 39921284 + Silent SNP G G A rs146804895 TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr17:39921284G>A ENST00000393931.3 - 6 1063 c.945C>T c.(943-945)ctC>ctT p.L315L JUP_ENST00000393930.1_Silent_p.L315L|JUP_ENST00000310706.5_Silent_p.L315L|JUP_ENST00000540235.1_Intron NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 315 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) TGATCTGCACGAGGGCCTGGG 0.542000 11 86 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12419613 12419613 + Splice_Site SNP A A G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr12:12419613A>G ENST00000261349.4 - 1 132 c.e1+1 LRP6_ENST00000543091.1_Splice_Site NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CACTCTTCCCACCTCTCAGGA 0.642000 5 26 0 0 1 0 0 RAB39A 54734 broad.mit.edu 37 11 107799349 107799349 + Missense_Mutation SNP G G T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr11:107799349G>T ENST00000320578.2 + 1 121 c.55G>T c.(55-57)Gtg>Ttg p.V19L NM_017516.1 NP_059986.1 Q14964 RB39A_HUMAN RAB39A, member RAS oncogene family 19 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding GGACTCCACCGTGGGCAAGTC 0.711000 4 27 1.024e-07 1.06264e-07 1 1 0 STRIP2 57464 broad.mit.edu 37 7 129110495 129110495 + Nonsense_Mutation SNP C C A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr7:129110495C>A ENST00000249344.2 + 18 1923 c.1883C>A c.(1882-1884)tCa>tAa p.S628* STRIP2_ENST00000435494.2_Nonsense_Mutation_p.S628* NM_020704.2 NP_065755.1 striatin interacting protein 2 p.S628*(1) TACAGCATCTCAGTCCTGGAT 0.463000 8 31 3.09899e-07 3.19583e-07 1 1 0 PIK3CD 5293 broad.mit.edu 37 1 9778813 9778813 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr1:9778813C>T ENST00000536656.1 + 9 1185 c.977C>T c.(976-978)tCg>tTg p.S326L PIK3CD_ENST00000377346.4_Missense_Mutation_p.S361L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.S326L|PIK3CD_ENST00000543390.1_Missense_Mutation_p.S28L O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 361 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GTGTCCAGCTCGGAGGTGAGC 0.637000 13 53 0 0 1 0 0 ZNF546 339327 broad.mit.edu 37 19 40520952 40520952 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr19:40520952G>A ENST00000347077.4 + 7 1991 c.1775G>A c.(1774-1776)cGt>cAt p.R592H ZNF546_ENST00000600094.1_Missense_Mutation_p.R566H|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 592 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ATTTTTAGTCGTCGCTATAAT 0.353000 12 26 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328729 88328729 + Silent SNP C C A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr13:88328729C>A ENST00000325089.6 + 2 1305 c.1086C>A c.(1084-1086)atC>atA p.I362I SLITRK5_ENST00000400028.3_Silent_p.I121I NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 362 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCCCCAGCATCGCCTATCAGA 0.612000 9 71 7.48243e-07 7.66833e-07 1 1 0 UBE2M 9040 broad.mit.edu 37 19 59067527 59067527 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr19:59067527C>T ENST00000253023.3 - 6 1059 c.481G>A c.(481-483)Gag>Aag p.E161K NM_003969.3 NP_003960.1 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 161 protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 5 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) ACGTTCTGCTCAAACAGCCGC 0.637000 28 58 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137626346 137626346 + Silent SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr5:137626346C>G ENST00000323760.6 - 9 1124 c.846G>C c.(844-846)ctG>ctC p.L282L CDC25C_ENST00000356505.3_Silent_p.L252L|CDC25C_ENST00000348983.3_Silent_p.L209L|CDC25C_ENST00000415130.2_Silent_p.L209L|CDC25C_ENST00000357274.3_Silent_p.L239L|CDC25C_ENST00000513970.1_Silent_p.L282L|CDC25C_ENST00000514555.1_Silent_p.L252L NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 282 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) AATCACCAATCAGGTGCCCCT 0.433000 15 36 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120169904 120169904 + Splice_Site SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr4:120169904C>T ENST00000450251.1 + 3 783 c.237_splice c.e3-1 p.T80_splice USP53_ENST00000274030.6_Splice_Site_p.T80_splice Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 80 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 GATTCCCAGACGATATTTGCA 0.378000 26 33 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119568489 119568489 + Silent SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr12:119568489C>T ENST00000267260.4 + 8 1009 c.621C>T c.(619-621)cgC>cgT p.R207R SRRM4_ENST00000537597.1_3'UTR NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 207 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CCAGGCACCGCGGCCGGTCCC 0.627000 5 26 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138377643 138377643 + Silent SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:138377643G>A ENST00000356818.2 + 4 1836 c.1287G>A c.(1285-1287)gtG>gtA p.V429V PPP1R26_ENST00000605286.1_Silent_p.V429V|PPP1R26_ENST00000605660.1_Silent_p.V429V|PPP1R26_ENST00000604351.1_Silent_p.V429V|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.V429V NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 429 nucleolus protein binding AGAAGCTAGTGGCCACCAAGA 0.602000 11 23 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152574009 152574009 + Missense_Mutation SNP T T C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr2:152574009T>C ENST00000397345.3 - 10 945 c.743A>G c.(742-744)gAa>gGa p.E248G NEB_ENST00000604864.1_Missense_Mutation_p.E248G|NEB_ENST00000427231.2_Missense_Mutation_p.E248G|NEB_ENST00000172853.10_Missense_Mutation_p.E248G|NEB_ENST00000603639.1_Missense_Mutation_p.E248G|NEB_ENST00000409198.1_Missense_Mutation_p.E248G NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 248 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGCTTGCTGTTCAGCGAGACC 0.373000 4 39 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56481628 56481628 + Silent SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr12:56481628C>G ENST00000267101.3 + 6 1103 c.663C>G c.(661-663)ccC>ccG p.P221P ERBB3_ENST00000415288.2_Silent_p.P162P|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 221 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) GCTTTGGGCCCAACCCCAACC 0.542000 25 88 0 0 1 0 0 ARL5B 221079 broad.mit.edu 37 10 18963007 18963007 + Missense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr10:18963007G>C ENST00000377275.3 + 5 667 c.434G>C c.(433-435)aGt>aCt p.S145T NM_178815.3 NP_848930.1 Q96KC2 ARL5B_HUMAN ADP-ribosylation factor-like 5B 145 small GTPase mediated signal transduction intracellular GTP binding lung(1)|ovary(1) 2 CTCACCCTTAGTTCAATTAAG 0.433000 5 46 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41025868 41025868 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr19:41025868C>T ENST00000352632.3 + 16 3550 c.3464C>T c.(3463-3465)gCg>gTg p.A1155V SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1155V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1155V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1155V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A1155V Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1155 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCAGCGAGGCGCTGCTGGCC 0.687000 4 14 0 0 1 0 0 MPL 4352 broad.mit.edu 37 1 43804213 43804213 + Splice_Site SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr1:43804213G>A ENST00000372470.3 + 3 255 c.212_splice c.e3-1 p.R71_splice MPL_ENST00000413998.2_Splice_Site_p.R71_splice NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 71 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ATGCCAACAGGGAGAAGCCCC 0.587000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 27 45 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42781263 42781263 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr3:42781263C>T ENST00000310232.6 - 9 1110 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 343 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TTTAGCTCTTCAAGCTCTCTC 0.517000 11 72 0 0 1 0 0 GMFB 2764 broad.mit.edu 37 14 54950435 54950435 + Silent SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr14:54950435C>G ENST00000554908.1 - 2 151 c.54G>C c.(52-54)ctG>ctC p.L18L GMFB_ENST00000553566.1_5'UTR|GMFB_ENST00000358056.3_Silent_p.L18L P60983 GMFB_HUMAN glia maturation factor, beta 18 ADF-H. nervous system development|protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1) 8 GAAACTTTCTCAGCTTTTCCA 0.323000 7 23 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138714833 138714833 + Silent SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:138714833C>T ENST00000389532.4 - 11 1738 c.1674G>A c.(1672-1674)gaG>gaA p.E558E CAMSAP1_ENST00000312405.6_Silent_p.E280E|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.E569E NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 558 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CCCTGGGGAACTCCGGGTCAG 0.567000 91 188 0 0 1 0 0 RMND1 55005 broad.mit.edu 37 6 151766915 151766915 + Missense_Mutation SNP C C A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:151766915C>A ENST00000367303.4 - 2 154 c.32G>T c.(31-33)aGa>aTa p.R11I RMND1_ENST00000491268.1_5'UTR NM_017909.2 NP_060379.2 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog (S. cerevisiae) 11 central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) ATGATGAGATCTGGCCACGGC 0.363000 3 26 0.115264 0.115264 1 1 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 46 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442219 138442219 + Missense_Mutation SNP C C A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr4:138442219C>A ENST00000344876.4 - 4 3758 c.3372G>T c.(3370-3372)gaG>gaT p.E1124D PCDH18_ENST00000412923.2_Missense_Mutation_p.E1123D|PCDH18_ENST00000511115.1_Missense_Mutation_p.E304D|PCDH18_ENST00000510305.1_Missense_Mutation_p.E335D|PCDH18_ENST00000507846.1_Missense_Mutation_p.E903D NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1124 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GTTTGTTAATCTCTGCCACCA 0.408000 17 26 1.50039e-11 1.56686e-11 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40384065 40384065 + Missense_Mutation SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr19:40384065C>G ENST00000221347.6 - 21 9552 c.9545G>C c.(9544-9546)gGc>gCc p.G3182A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3182 TIL 7. 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) CACACAGGGGCCCTCACATAC 0.647000 35 125 0 0 1 0 0 SRP14 6727 broad.mit.edu 37 15 40330554 40330554 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr15:40330554C>T ENST00000267884.6 - 3 210 c.139G>A c.(139-141)Gag>Aag p.E47K SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000559081.1_Missense_Mutation_p.E47K|SRP14_ENST00000560773.1_5'UTR NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 47 negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) TCAAAGCCCTCCACAGTACCC 0.502000 8 42 0 0 1 0 0 CRYGS 1427 broad.mit.edu 37 3 186256601 186256601 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr3:186256601C>T ENST00000392499.2 - 4 760 c.421G>A c.(421-423)Gag>Aag p.E141K CRYGS_ENST00000307944.5_Missense_Mutation_p.E141K NM_017541.2 NP_060011.1 P22914 CRBS_HUMAN crystallin, gamma S 141 Beta/gamma crystallin 'Greek key' 4. structural constituent of eye lens endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 11 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) TTGGGTAGCTCATAGAAAATC 0.537000 10 37 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31266577 31266577 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr22:31266577G>A ENST00000332585.6 + 3 1119 c.1015G>A c.(1015-1017)Ggc>Agc p.G339S OSBP2_ENST00000407373.1_Missense_Mutation_p.G166S|OSBP2_ENST00000403222.3_Missense_Mutation_p.G174S|OSBP2_ENST00000446658.2_Missense_Mutation_p.G339S|OSBP2_ENST00000437268.2_Missense_Mutation_p.G81S|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000382310.3_Missense_Mutation_p.G339S NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 339 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 AGAGCTGGACGGCCTCAAGAT 0.557000 5 43 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42930446 42930446 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr19:42930446G>A ENST00000244289.4 - 1 1132 c.856C>T c.(856-858)Cgg>Tgg p.R286W LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 286 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) CTGTGATTCCGAGCACTGGTT 0.438000 4 187 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74637401 74637401 + Silent SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr15:74637401G>A ENST00000358632.4 - 3 830 c.135C>T c.(133-135)ttC>ttT p.F45F CYP11A1_ENST00000419019.2_Silent_p.F45F|CYP11A1_ENST00000268053.6_Silent_p.F203F|CYP11A1_ENST00000541301.1_Intron NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 203 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) AGGCAAAGCGGAACAGGTCAT 0.567000 16 38 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70617222 70617222 + Missense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chrX:70617222G>C ENST00000449580.1 + 23 3574 c.3523G>C c.(3523-3525)Gag>Cag p.E1175Q TAF1_ENST00000276072.3_Missense_Mutation_p.E1196Q|TAF1_ENST00000373790.4_Missense_Mutation_p.E1175Q|TAF1_ENST00000423759.1_Missense_Mutation_p.E1196Q P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1175 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TCGAGATGAAGAGGGGAAAGA 0.468000 18 47 0 0 1 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334307 39334307 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr17:39334307C>T ENST00000377726.2 - 1 153 c.110G>A c.(109-111)cGc>cAc p.R37H NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 37 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGCGGCAGCAGGT 0.657000 54 81 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56505363 56505363 + Nonsense_Mutation SNP C C A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:56505363C>A ENST00000370754.5 - 17 1968 c.1969G>T c.(1969-1971)Gaa>Taa p.E657* DST_ENST00000370788.2_Nonsense_Mutation_p.E479*|DST_ENST00000446842.2_Nonsense_Mutation_p.E153*|DST_ENST00000361203.3_Nonsense_Mutation_p.E479*|DST_ENST00000312431.6_Nonsense_Mutation_p.E479*|DST_ENST00000518935.1_Nonsense_Mutation_p.E153*|DST_ENST00000370765.6_Nonsense_Mutation_p.E153*|DST_ENST00000421834.2_Nonsense_Mutation_p.E479*|DST_ENST00000370769.4_Nonsense_Mutation_p.E479*|DST_ENST00000244364.6_Nonsense_Mutation_p.E153* Q03001 DYST_HUMAN dystonin 479 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GAAGAACATTCGTTCCTTAAG 0.388000 44 49 3.86361e-14 4.06048e-14 1 1 0 TMEM132A 54972 broad.mit.edu 37 11 60699312 60699312 + Silent SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr11:60699312C>T ENST00000005286.4 + 6 1324 c.1171C>T c.(1171-1173)Ctg>Ttg p.L391L TMEM132A_ENST00000453848.2_Silent_p.L390L NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 390 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GTGGGAAATCCTGGTGTCTGA 0.627000 23 110 0 0 1 0 0 TATDN1 83940 broad.mit.edu 37 8 125516547 125516547 + Missense_Mutation SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr8:125516547C>G ENST00000276692.6 - 9 595 c.558G>C c.(556-558)ttG>ttC p.L186F TATDN1_ENST00000605953.1_Missense_Mutation_p.L186F|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000517678.1_Missense_Mutation_p.L132F|TATDN1_ENST00000519548.1_Missense_Mutation_p.L139F NM_032026.3 NP_114415.1 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 186 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CCAAGTCAATCAAAGCAGCTG 0.318000 16 87 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41525914 41525914 + Nonsense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr22:41525914C>T ENST00000263253.7 + 5 2408 c.1189C>T c.(1189-1191)Cga>Tga p.R397* NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 397 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TGCATCTTCTCGACAAATCAT 0.363000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 21 28 0 0 1 0 0 ZNF45 7596 broad.mit.edu 37 19 44417669 44417669 + Missense_Mutation SNP T T C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr19:44417669T>C ENST00000269973.5 - 10 3009 c.1919A>G c.(1918-1920)tAc>tGc p.Y640C RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.Y640C NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 640 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 CTCACATTTGTATGGTTTTTC 0.468000 12 111 0 0 1 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119798775 119798775 + Missense_Mutation SNP A A C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr10:119798775A>C ENST00000355624.3 - 3 1412 c.973T>G c.(973-975)Ttt>Gtt p.F325V RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.F325V|RP11-354M20.3_ENST00000451610.2_RNA NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 325 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) CTTTCTTCAAATGGATTTTTC 0.348000 5 58 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139369942 139369942 + Nonsense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:139369942G>C ENST00000313050.7 - 1 2199 c.2126C>G c.(2125-2127)tCa>tGa p.S709* SEC16A_ENST00000290037.6_Nonsense_Mutation_p.S531*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.S531*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.S531* NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 531 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGTCCTGGCTGAAGGCCTCTT 0.617000 3 33 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31864575 31864575 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:31864575G>A ENST00000395728.3 - 2 306 c.307C>T c.(307-309)Cgt>Tgt p.R103C EHMT2_ENST00000375530.4_Missense_Mutation_p.R46C|EHMT2_ENST00000375528.4_Missense_Mutation_p.R103C|EHMT2_ENST00000375537.4_Missense_Mutation_p.R46C Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 46 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 TCTTCACTACGAGGGGTGTCC 0.567000 19 107 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80045999 80045999 + Silent SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr17:80045999G>C ENST00000306749.2 - 17 2996 c.2778C>G c.(2776-2778)ccC>ccG p.P926P NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 926 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CACCAGTCTTGGGCAGGATGG 0.672000 17 95 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83390119 83390119 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chrX:83390119G>A ENST00000262752.2 - 7 608 c.601C>T c.(601-603)Cca>Tca p.P201S RPS6KA6_ENST00000543399.1_Missense_Mutation_p.P201S NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 201 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TACTTTTCTGGCTTCAGGTCT 0.363000 3 5 0 0 1 0 0 CEP78 84131 broad.mit.edu 37 9 80879159 80879159 + Missense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:80879159G>C ENST00000424347.2 + 13 1841 c.1552G>C c.(1552-1554)Gaa>Caa p.E518Q CEP78_ENST00000277082.5_Missense_Mutation_p.E518Q|CEP78_ENST00000376597.4_Missense_Mutation_p.E519Q|CEP78_ENST00000415759.2_Missense_Mutation_p.E519Q|CEP78_ENST00000376598.2_Missense_Mutation_p.E518Q Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 518 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 CCTGGATGATGAAGGTGTTTT 0.373000 5 41 0 0 1 0 0 PARD6G 84552 broad.mit.edu 37 18 77917940 77917940 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr18:77917940G>A ENST00000353265.3 - 3 1042 c.845C>T c.(844-846)cCg>cTg p.P282L AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron NM_032510.3 NP_115899.1 Q9BYG4 PAR6G_HUMAN par-6 family cell polarity regulator gamma 282 cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) CAGGACGCGCGGGGCGGGGGG 0.731000 3 15 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4567367 4567367 + Missense_Mutation SNP T T A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr11:4567367T>A ENST00000360213.1 + 1 947 c.947T>A c.(946-948)aTt>aAt p.I316N NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 316 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GAAATGAAGATTAGATGATTA 0.403000 7 24 0 0 1 0 0 CALHM2 51063 broad.mit.edu 37 10 105207066 105207066 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr10:105207066G>A ENST00000260743.5 - 4 1338 c.815C>T c.(814-816)aCg>aTg p.T272M CALHM2_ENST00000369788.3_Missense_Mutation_p.T272M NM_015916.4 NP_057000.2 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 272 integral to membrane NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1) 11 CCGTGGCTGCGTGCCTTCCAC 0.597000 44 77 0 0 1 0 0 IFNA17 3451 broad.mit.edu 37 9 21227789 21227789 + Silent SNP C C T rs143881964 byFrequency TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:21227789C>T ENST00000413767.2 - 1 432 c.384G>A c.(382-384)ggG>ggA p.G128G NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 128 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TCTCTTCCATCCCAACCTCCT 0.443000 162 61 0 0 1 0 0 ASB4 51666 broad.mit.edu 37 7 95166913 95166913 + Missense_Mutation SNP A A T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr7:95166913A>T ENST00000325885.5 + 5 1194 c.1123A>T c.(1123-1125)Act>Tct p.T375S NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 375 SOCS box. intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CTCTCTCTTTACTGTGTGCTG 0.393000 30 57 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123514622 123514622 + Nonsense_Mutation SNP C C A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chrX:123514622C>A ENST00000422452.2 - 32 8026 c.7963G>T c.(7963-7965)Gag>Tag p.E2655* STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Nonsense_Mutation_p.E2648* NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTGGCAATCTCCAACACGTGA 0.537000 48 31 3.05275e-18 3.29218e-18 1 1 0 ZKSCAN2 342357 broad.mit.edu 37 16 25266692 25266692 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr16:25266692C>T ENST00000328086.7 - 2 1224 c.421G>A c.(421-423)Gag>Aag p.E141K NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 141 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) GAGTGCTTCTCCCGGTGCACG 0.567000 8 16 0 0 1 0 0 PSMC6 5706 broad.mit.edu 37 14 53185712 53185712 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr14:53185712G>A ENST00000445930.2 + 10 781 c.775G>A c.(775-777)Gag>Aag p.E259K PSMC6_ENST00000606149.1_Missense_Mutation_p.E245K P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 245 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) TCGGTTTTCTGAGGGTACTTC 0.348000 16 70 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51487158 51487158 + Missense_Mutation SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chrX:51487158C>G ENST00000340438.4 + 1 678 c.436C>G c.(436-438)Cta>Gta p.L146V NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 146 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) GGAAATGGCCCTAGAAGAATC 0.507000 9 3 0 0 1 0 0 MRPS15 64960 broad.mit.edu 37 1 36921903 36921903 + Missense_Mutation SNP T T G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr1:36921903T>G ENST00000373116.5 - 7 682 c.521A>C c.(520-522)aAc>aCc p.N174T MRPS15_ENST00000488606.1_5'UTR NM_031280.3 NP_112570.2 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 174 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GACATCATAGTTGGTGTTACG 0.468000 10 51 0 0 1 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150636133 150636133 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr1:150636133C>T ENST00000271732.3 - 3 334 c.290G>A c.(289-291)cGt>cAt p.R97H GOLPH3L_ENST00000540514.1_Intron NM_018178.5 NP_060648.2 Q9H4A5 GLP3L_HUMAN golgi phosphoprotein 3-like 97 Golgi cisterna membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TCGCTTCTTACGCATGGTCGG 0.488000 38 36 0 0 1 0 0 SLC46A1 113235 broad.mit.edu 37 17 26726702 26726702 + Silent SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr17:26726702G>C ENST00000440501.1 - 6 1445 c.1350C>G c.(1348-1350)ctC>ctG p.L450L SARM1_ENST00000457710.3_3'UTR|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Silent_p.L421L NM_080669.4 NP_542400.2 Q96NT5 PCFT_HUMAN solute carrier family 46 (folate transporter), member 1 450 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity lung(5) 5 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) GCTGGAACTCGAGGTGAGGAT 0.547000 5 50 0 0 1 0 0 ZNF846 162993 broad.mit.edu 37 19 9868341 9868341 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr19:9868341G>A ENST00000397902.2 - 6 1825 c.1412C>T c.(1411-1413)aCg>aTg p.T471M ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 TCCTGTGTGCGTTCGCATGTG 0.428000 18 62 0 0 1 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159610009 159610009 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr3:159610009G>A ENST00000460298.1 + 7 1563 c.1322G>A c.(1321-1323)aGa>aAa p.R441K SCHIP1_ENST00000482804.1_Intron|IQCJ-SCHIP1_ENST00000527095.1_Intron|SCHIP1_ENST00000445224.2_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000337808.6_Intron|IQCJ-SCHIP1_ENST00000412423.2_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron Q9P0W5 SCHI1_HUMAN 0 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 TGCCAAAGAAGAAAAGCCCAG 0.463000 8 13 0 0 1 0 0 SS18L1 26039 broad.mit.edu 37 20 60737907 60737907 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr20:60737907C>T ENST00000331758.3 + 5 502 c.476C>T c.(475-477)tCg>tTg p.S159L SS18L1_ENST00000491916.1_3'UTR|SS18L1_ENST00000370848.4_Missense_Mutation_p.S162L|SS18L1_ENST00000421564.1_Missense_Mutation_p.S159L NM_198935.1 NP_945173.1 O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 159 Methionine-rich intra-molecular domain (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) GGACCCGCCTCGCAGGGCGTC 0.652000 T SSX1 synovial sarcoma 26 50 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118644398 118644398 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr1:118644398C>T ENST00000336338.5 - 5 664 c.599G>A c.(598-600)cGg>cAg p.R200Q NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 200 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTCTCCTCTCCGCTTTAACTG 0.512000 46 84 0 0 1 0 0 NUDT18 79873 broad.mit.edu 37 8 21965792 21965792 + Silent SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr8:21965792C>T ENST00000309188.6 - 4 346 c.228G>A c.(226-228)ggG>ggA p.G76G NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_5'UTR NM_024815.3 NP_079091.3 Q6ZVK8 NUD18_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 18 76 Nudix hydrolase. hydrolase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|lung(2) 4 Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986) GCTCCATTCTCCCCGCAGGCA 0.652000 3 13 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607776 84607776 + Silent SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:84607776G>C ENST00000344803.2 + 4 2438 c.2391G>C c.(2389-2391)ctG>ctC p.L797L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 ACAAGGATCTGAGGTCTAACT 0.468000 14 74 0 0 1 0 0 PLAU 5328 broad.mit.edu 37 10 75671331 75671331 + Silent SNP G G T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr10:75671331G>T ENST00000372764.3 + 2 111 c.18G>T c.(16-18)gcG>gcT p.A6A C10orf55_ENST00000412307.2_3'UTR|PLAU_ENST00000446342.1_5'UTR|C10orf55_ENST00000409178.1_3'UTR|PLAU_ENST00000372762.4_Silent_p.A6A|PLAU_ENST00000494287.1_3'UTR NM_002658.3 NP_002649.1 P00749 UROK_HUMAN plasminogen activator, urokinase 6 blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) CCCTGCTGGCGCGCCTGCTTC 0.632000 4 35 0.014758 0.0149391 1 1 0 HDAC9 9734 broad.mit.edu 37 7 18684345 18684345 + Silent SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr7:18684345C>T ENST00000406451.3 + 9 1105 c.955C>T c.(955-957)Cta>Tta p.L319L HDAC9_ENST00000417496.2_Silent_p.L317L|HDAC9_ENST00000432645.2_Silent_p.L319L|HDAC9_ENST00000441542.2_Silent_p.L322L|HDAC9_ENST00000456174.2_Silent_p.L291L|HDAC9_ENST00000405010.3_Silent_p.L319L|HDAC9_ENST00000406072.1_Silent_p.L306L|HDAC9_ENST00000428307.2_Silent_p.L275L|HDAC9_ENST00000401921.1_Silent_p.L278L|HDAC9_ENST00000524023.1_Silent_p.L242L NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 319 Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CATGAACCTGCTAAGTCTTTA 0.413000 18 24 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655993 12655993 + Missense_Mutation SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr17:12655993C>G ENST00000425538.1 + 10 1588 c.1388C>G c.(1387-1389)tCt>tGt p.S463C MYOCD_ENST00000343344.4_Missense_Mutation_p.S463C|MYOCD_ENST00000395988.1_Missense_Mutation_p.S367C NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 463 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCAGCCTCCTCTGACCTGTCA 0.622000 20 104 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119611873 119611873 + Nonsense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:119611873G>C ENST00000368468.3 - 5 1313 c.872C>G c.(871-873)tCa>tGa p.S291* MAN1A1_ENST00000368466.2_Nonsense_Mutation_p.S314* NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 291 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) ATAGTAGGCTGAGAGTAGTCC 0.318000 6 52 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Nonsense_Mutation SNP C C A rs112431538 TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr17:7577085C>A ENST00000420246.2 - 8 985 c.853G>T c.(853-855)Gag>Tag p.E285* TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E285*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E285*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E285*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E285* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 17 6.2361e-21 6.76946e-21 1 1 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 5 39 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70990093 70990093 + Nonsense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr14:70990093G>C ENST00000256389.3 - 2 1776 c.1532C>G c.(1531-1533)tCa>tGa p.S511* RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 461 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TAAAGTTCCTGATGGCAGAAA 0.458000 23 121 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 65 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131796456 131796456 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr2:131796456G>A ENST00000392953.3 + 6 1117 c.598G>A c.(598-600)Gaa>Aaa p.E200K ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E200K|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.E129K|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.E200K|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E200K|ARHGEF4_ENST00000439368.2_3'UTR NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 200 SH3. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) GGTCTGCGCTGAAGCACTCTG 0.627000 11 55 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27454980 27454980 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr2:27454980G>A ENST00000264705.4 + 17 2695 c.2533G>A c.(2533-2535)Gca>Aca p.A845T CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Missense_Mutation_p.A782T NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 845 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GCGTATCATCGCACATGCCCA 0.562000 17 97 0 0 1 0 0 ZNF699 374879 broad.mit.edu 37 19 9406167 9406167 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr19:9406167G>A ENST00000591998.1 - 6 2141 c.1913C>T c.(1912-1914)aCt>aTt p.T638I ZNF699_ENST00000308650.3_Missense_Mutation_p.T638I Q32M78 ZN699_HUMAN zinc finger protein 699 638 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTTTTCTCTAGTGTGAGTTTT 0.423000 30 57 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76378501 76378501 + Missense_Mutation SNP A A G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr1:76378501A>G ENST00000263187.3 + 20 2844 c.2740A>G c.(2740-2742)Agt>Ggt p.S914G NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 914 S -> N (in dbSNP:rs5745549). chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 AATATATTTAAGTAACCTCAA 0.358000 Mismatch excision repair (MMR) 4 25 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127796884 127796884 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:127796884C>T ENST00000556132.1 - 6 3151 c.2287G>A c.(2287-2289)Gac>Aac p.D763N SOGA3_ENST00000481848.2_Missense_Mutation_p.D763N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D763N|SOGA3_ENST00000465909.2_Missense_Mutation_p.D763N|SOGA3_ENST00000525778.1_Missense_Mutation_p.D763N NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 763 integral to membrane GAGTCGTCGTCGCTCTCCTTC 0.706000 22 87 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142399868 142399868 + Missense_Mutation SNP T T C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:142399868T>C ENST00000258042.1 - 2 735 c.595A>G c.(595-597)Atc>Gtc p.I199V NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 199 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) GGGTATGGGATACATGCTGTG 0.433000 77 81 0 0 1 0 0 CPQ 10404 broad.mit.edu 37 8 97847351 97847351 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr8:97847351C>T ENST00000220763.5 + 3 794 c.584C>T c.(583-585)gCc>gTc p.A195V NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 195 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity GTGGAAGCTGCCAAGGTGGGG 0.488000 4 88 0 0 1 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 99003736 99003736 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr10:99003736G>A ENST00000453547.2 - 8 1173 c.1174C>T c.(1174-1176)Ctt>Ttt p.L392F ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L383F|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.L392F|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L392F|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L383F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L363F TGTCTAATAAGTTGTTTCTTC 0.458000 35 71 0 0 1 0 0 OOEP 441161 broad.mit.edu 37 6 74079426 74079426 + Silent SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:74079426C>T ENST00000370359.5 - 1 89 c.90G>A c.(88-90)ccG>ccA p.P30P OOEP_ENST00000370363.1_Intron|OOEP-AS1_ENST00000445350.2_RNA NM_001080507.2 NP_001073976.1 A6NGQ2 OOEP_HUMAN oocyte expressed protein 30 cytoplasm large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 TCTGTGGCGGCGGAAGTGGTA 0.612000 84 73 0 0 1 0 0 CAT 847 broad.mit.edu 37 11 34473710 34473710 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr11:34473710G>A ENST00000241052.4 + 4 525 c.436G>A c.(436-438)Gtt>Att p.V146I NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 146 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) CTGGGATCTCGTTGGAAATAA 0.403000 33 30 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73175219 73175219 + Missense_Mutation SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr4:73175219C>G ENST00000286657.4 - 15 2110 c.2074G>C c.(2074-2076)Gaa>Caa p.E692Q NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 692 Cys-rich. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAACCAATTTCTTTATCACAG 0.448000 11 48 0 0 1 0 0 SPAG4 6676 broad.mit.edu 37 20 34205117 34205117 + Missense_Mutation SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr20:34205117C>G ENST00000374273.3 + 2 476 c.364C>G c.(364-366)Ctg>Gtg p.L122V SPAG4_ENST00000462896.1_3'UTR NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 122 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) GACCCTGGATCTGAGGCAGGA 0.652000 3 10 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27412521 27412521 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr10:27412521C>T ENST00000326799.3 - 11 1376 c.1228G>A c.(1228-1230)Gag>Aag p.E410K YME1L1_ENST00000376016.3_Missense_Mutation_p.E353K|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Missense_Mutation_p.E320K NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 410 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 ACAAACATCTCATCAAATTCG 0.443000 30 166 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633987 70633987 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr14:70633987C>T ENST00000381269.2 - 2 1906 c.1153G>A c.(1153-1155)Gag>Aag p.E385K SLC8A3_ENST00000356921.2_Missense_Mutation_p.E385K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E385K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E385K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E385K NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 385 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GTGTGCACCTCGCTCATGCTG 0.512000 59 100 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145781002 145781002 + Missense_Mutation SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr8:145781002C>G ENST00000276826.5 - 3 739 c.538G>C c.(538-540)Gag>Cag p.E180Q ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E180Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E180Q Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 180 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TAGTCCTTCTCAAGGAACACT 0.468000 37 92 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50598162 50598162 + Missense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr22:50598162G>C ENST00000262794.5 + 24 3355 c.3272G>C c.(3271-3273)gGa>gCa p.G1091A MOV10L1_ENST00000545383.1_Missense_Mutation_p.G1091A|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G1071A|MOV10L1_ENST00000395852.1_Missense_Mutation_p.G218A|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G1091A NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 1091 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) ATAAAGGTTGGATCAGTAGAG 0.413000 24 87 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75865511 75865511 + Nonsense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:75865511G>A ENST00000322507.8 - 16 3619 c.3310C>T c.(3310-3312)Cga>Tga p.R1104* COL12A1_ENST00000483888.2_Nonsense_Mutation_p.R1104*|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.R1104* NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1104 Fibronectin type-III 8. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.R1104R(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAAGTCACTCGGAAGCTTGAC 0.458000 21 138 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17113797 17113797 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr11:17113797C>T ENST00000265970.7 - 28 4477 c.4478G>A c.(4477-4479)aGa>aAa p.R1493K PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R1113K NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1493 Interaction with PtdIns(4,5)P2-containing membranes.|PX. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TATGTGTGTTCTTCCTAGAAC 0.318000 8 42 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20074700 20074700 + Missense_Mutation SNP G G T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr22:20074700G>T ENST00000351989.3 + 3 1165 c.736G>T c.(736-738)Gat>Tat p.D246Y DGCR8_ENST00000407755.1_Missense_Mutation_p.D246Y|DGCR8_ENST00000383024.2_Missense_Mutation_p.D246Y NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 246 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. DDFDNDV -> VCWQPLL (in Ref. 6; AAF82263). primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) CTTTGACAACGATGTGGATGC 0.537000 41 125 3.4345e-17 3.65608e-17 1 1 0 TRBV5-4 28611 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 5 27 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534103 55534103 + Missense_Mutation SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr8:55534103C>T ENST00000220676.1 + 2 725 c.577C>T c.(577-579)Cgc>Tgc p.R193C NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 193 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGTCATGCAGCGCCCTGTGGT 0.587000 37 217 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102553619 102553619 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr7:102553619G>A ENST00000393772.2 - 11 1348 c.922C>T c.(922-924)Cgg>Tgg p.R308W FBXL13_ENST00000313221.4_Missense_Mutation_p.R308W|FBXL13_ENST00000379308.3_Missense_Mutation_p.R308W|FBXL13_ENST00000379306.3_Missense_Mutation_p.R308W|FBXL13_ENST00000379305.3_Missense_Mutation_p.R308W|FBXL13_ENST00000436908.1_Missense_Mutation_p.R308W|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.R308W|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.R308W Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 308 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 TCTGTGAACCGTCTGCAATAA 0.438000 20 47 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421836 62421836 + Nonsense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr20:62421836G>C ENST00000245663.4 - 2 425 c.275C>G c.(274-276)tCa>tGa p.S92* ZBTB46_ENST00000302995.2_Nonsense_Mutation_p.S92*|ZBTB46_ENST00000395104.1_Nonsense_Mutation_p.S92* NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 92 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CAGGTGCGCTGAGTACATGAA 0.607000 19 89 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122745861 122745861 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr12:122745861G>A ENST00000267199.4 - 4 542 c.430C>T c.(430-432)Ctc>Ttc p.L144F VPS33A_ENST00000451053.2_Missense_Mutation_p.L144F|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.L144F|VPS33A_ENST00000542310.1_5'UTR NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 144 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AATGGAATGAGATCTAAGCTG 0.453000 31 45 0 0 1 0 0 TRMT61B 55006 broad.mit.edu 37 2 29092577 29092577 + Missense_Mutation SNP G G T rs7583228 TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr2:29092577G>T ENST00000306108.5 - 1 590 c.567C>A c.(565-567)ttC>ttA p.F189L NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 189 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 CGATCTTGCCGAACGGGACTG 0.468000 39 68 2.19489e-29 2.39839e-29 1 1 0 GTPBP1 9567 broad.mit.edu 37 22 39124110 39124110 + Missense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr22:39124110G>C ENST00000216044.5 + 10 1893 c.1660G>C c.(1660-1662)Gac>Cac p.D554H NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 554 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CCTGCACATAGACCAGCGGCT 0.602000 7 44 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50912420 50912420 + Missense_Mutation SNP T T G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr18:50912420T>G ENST00000442544.2 + 16 2983 c.2367T>G c.(2365-2367)agT>agG p.S789R DCC_ENST00000412726.1_Missense_Mutation_p.S637R|DCC_ENST00000581580.1_Missense_Mutation_p.S444R NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 789 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CAGAGTCAAGTTCCCATTATG 0.343000 6 38 0 0 1 0 0 HOXB13 10481 broad.mit.edu 37 17 46805632 46805632 + Silent SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr17:46805632C>T ENST00000290295.7 - 1 908 c.324G>A c.(322-324)gcG>gcA p.A108A NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 108 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 CCGCGGGGTACGCGGCCAGGG 0.647000 69 121 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325150 9325150 + Missense_Mutation SNP G G A TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr19:9325150G>A ENST00000308682.2 - 1 392 c.364C>T c.(364-366)Cgg>Tgg p.R122W NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 GCCACAAACCGGTCATAGGCC 0.502000 31 79 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16258342 16258342 + Missense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr1:16258342G>C ENST00000375759.3 + 11 5811 c.5607G>C c.(5605-5607)aaG>aaC p.K1869N NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1869 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGGAATTGAAGATGGAGGCAG 0.507000 10 65 0 0 1 0 0 HSF1 3297 broad.mit.edu 37 8 145534902 145534902 + Missense_Mutation SNP G G C TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr8:145534902G>C ENST00000528838.1 + 5 691 c.531G>C c.(529-531)caG>caC p.Q177H HSF1_ENST00000400780.4_Missense_Mutation_p.Q112H NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 177 Hydrophobic repeat HR-A/B. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) GCCTTCGGCAGAAGCATGCCC 0.662000 3 39 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170078548 170078548 + Silent SNP A A G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr3:170078548A>G ENST00000458537.3 + 1 1138 c.429A>G c.(427-429)gaA>gaG p.E143E SKIL_ENST00000413427.2_Silent_p.E143E|SKIL_ENST00000259119.4_Silent_p.E143E|SKIL_ENST00000426052.2_Silent_p.E123E NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 143 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GCTCCACAGAACTCACTCAGA 0.468000 5 164 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592386 38592386 + Missense_Mutation SNP C C T rs137854610 TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr3:38592386C>T ENST00000413689.1 - 28 5670 c.5477G>A c.(5476-5478)cGt>cAt p.R1826H SCN5A_ENST00000449557.2_Missense_Mutation_p.R1772H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1825H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1808H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1825H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1808H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1826H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1793H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1772H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1772H NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1826 R -> C (found in patients with atrial fibrillation).|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTTGGCGATACGGAGTGGCTC 0.507000 25 44 0 0 1 0 0 CARS 833 broad.mit.edu 37 11 3022357 3022357 + Missense_Mutation SNP C C G TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr11:3022357C>G ENST00000397114.3 - 23 2580 c.2204G>C c.(2203-2205)gGa>gCa p.G735A CARS_ENST00000380525.4_Missense_Mutation_p.G828A|CARS_ENST00000397111.5_Missense_Mutation_p.G745A|CARS_ENST00000278224.9_3'UTR|CARS_ENST00000401769.3_3'UTR|CARS_ENST00000470221.2_5'UTR P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 745 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CTGGAAGCTTCCATTCTGGGC 0.517000 T ALK ALCL 18 103 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56482903 56482904 + Frame_Shift_Ins INS - - AATG TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr6:56482903_56482904insAATG ENST00000370765.6 - 23 6035_6036 c.5928_5929insCATT c.(5926-5931)atcaagfs p.K1977fs DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1376 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GACAGTCTTGTAATGGGGTTTG 0.426 10 70 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 4 --- --- --- --- CNTNAP3 79937 broad.mit.edu 37 9 39133068 39133068 + Frame_Shift_Del DEL G G - TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr9:39133068delG ENST00000297668.6 - 13 2014 c.1941delC c.(1939-1941)ccfs p.P647fs CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.P646fs|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.P559fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.P646fs|CNTNAP3_ENST00000323947.7_Frame_Shift_Del_p.P553fs NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 647 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGTGCCCGCTGGGGGCACCTC 0.731 2 4 --- --- --- --- HNRNPUL1 11100 broad.mit.edu 37 19 41800316 41800316 + Frame_Shift_Del DEL C C - TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr19:41800316delC ENST00000392006.3 + 9 1513 c.1340delC c.(1339-1341)tcfs p.S447fs HNRNPUL1_ENST00000593587.1_Frame_Shift_Del_p.S347fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Del_p.S358fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.S333fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Del_p.S347fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.S447fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Del_p.S347fs NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 447 Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 TCCAACCCTTCCAAGAAGTAC 0.522 50 88 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc5406a-cdd5-48e7-b1d2-d88e9b21df91 f831eb20-90c5-4fcf-8e58-b001f302297c g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 3 6 --- --- --- ---