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 SPAM1 6677 broad.mit.edu 37 7 123599958 123599958 + Missense_Mutation SNP C C A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr7:123599958C>A ENST00000340011.5 + 5 1822 c.1465C>A c.(1465-1467)Cta>Ata p.L489I SPAM1_ENST00000223028.7_Missense_Mutation_p.L489I|SPAM1_ENST00000439500.1_Missense_Mutation_p.L489I|SPAM1_ENST00000402183.2_Missense_Mutation_p.L489I|SPAM1_ENST00000460182.1_Missense_Mutation_p.L489I NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 489 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ACCCTCCACACTATCTGCCAC 0.378000 18 123 2.94398e-08 3.15644e-08 1 1 0 TENM1 10178 broad.mit.edu 37 X 123680911 123680911 + Missense_Mutation SNP A A G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chrX:123680911A>G ENST00000422452.2 - 15 2527 c.2464T>C c.(2464-2466)Tgt>Cgt p.C822R TENM1_ENST00000371130.3_Missense_Mutation_p.C822R NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TGTTGACAACAGTCAGGATCC 0.383000 20 95 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 5 67 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101186182 101186182 + Missense_Mutation SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr1:101186182C>T ENST00000294728.2 + 2 316 c.215C>T c.(214-216)aCg>aTg p.T72M VCAM1_ENST00000370115.1_Missense_Mutation_p.T72M|VCAM1_ENST00000347652.2_Missense_Mutation_p.T72M|VCAM1_ENST00000370119.4_Intron NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 72 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.T72M(1) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GGGAAGGTGACGAATGAGGGG 0.468000 4 97 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10369732 10369732 + Splice_Site SNP G G C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr17:10369732G>C ENST00000255381.2 - 4 316 c.204_splice c.e4-1 p.T69_splice CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 69 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CACAGTTACAGTCTGTTAAGA 0.403000 20 129 0 0 1 0 0 TRADD 8717 broad.mit.edu 37 16 67190518 67190518 + Missense_Mutation SNP A A G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr16:67190518A>G ENST00000345057.4 - 2 514 c.46T>C c.(46-48)Tac>Cac p.Y16H TRADD_ENST00000566104.1_5'UTR NM_003789.3 NP_003780.1 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 16 activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) ACAAACAGGTATGCGCTGCCC 0.607000 33 131 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160394984 160394984 + Missense_Mutation SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr1:160394984C>T ENST00000368061.2 + 8 1856 c.1382C>T c.(1381-1383)aCa>aTa p.T461I NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 461 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AAACAGTGGACATTGGTGAGC 0.567000 8 48 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 99 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177250282 177250282 + Missense_Mutation SNP C C G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr1:177250282C>G ENST00000361539.4 + 8 2282 c.1970C>G c.(1969-1971)tCc>tGc p.S657C FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 657 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GATGACAGCTCCAATGAGACA 0.458000 21 102 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 40 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42879720 42879720 + Missense_Mutation SNP T T C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr19:42879720T>C ENST00000334370.4 + 41 7765 c.7130T>C c.(7129-7131)cTc>cCc p.L2377P MEGF8_ENST00000251268.6_Missense_Mutation_p.L2444P|MEGF8_ENST00000378073.4_Missense_Mutation_p.L38P NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2444 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGCTACCGCCTCATCTCGGTG 0.672000 2 12 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43531340 43531340 + Missense_Mutation SNP C C G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr17:43531340C>G ENST00000430334.3 - 7 2011 c.1878G>C c.(1876-1878)aaG>aaC p.K626N AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.K537N NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 626 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) GAGGCCGGACCTTCTGCAGGG 0.672000 3 43 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14063144 14063144 + RNA SNP C C A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr11:14063144C>A ENST00000310358.7 + 0 960 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CGGAGGAGGACCCGGATCCAG 0.468000 37 122 4.11147e-13 4.50098e-13 1 1 0 MYO6 4646 broad.mit.edu 37 6 76599869 76599869 + Missense_Mutation SNP G G T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr6:76599869G>T ENST00000369981.3 + 26 3033 c.2754G>T c.(2752-2754)caG>caT p.Q918H MYO6_ENST00000369977.3_Missense_Mutation_p.Q918H|MYO6_ENST00000369985.4_Missense_Mutation_p.Q918H|MYO6_ENST00000369975.1_Missense_Mutation_p.Q918H Q9UM54 MYO6_HUMAN myosin VI 918 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AAAAAAAACAGCAGGAAGAGG 0.408000 4 116 0.150653 0.152116 1 1 0 MYT1L 23040 broad.mit.edu 37 2 1926644 1926644 + Silent SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr2:1926644G>A ENST00000399161.2 - 10 1644 c.897C>T c.(895-897)taC>taT p.Y299Y MYT1L_ENST00000428368.2_Silent_p.Y299Y NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 299 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CCAACATGACGTAATTCATAT 0.463000 7 278 0 0 1 0 0 OR5P2 120065 broad.mit.edu 37 11 7818172 7818172 + Silent SNP G G A rs140285767 TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr11:7818172G>A ENST00000329434.2 - 1 348 c.318C>T c.(316-318)gtC>gtT p.V106V RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGACGCATTCGACTGTTGCAA 0.493000 5 162 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4935161 4935161 + Silent SNP G G A rs148525665 TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr16:4935161G>A ENST00000345988.2 - 22 3584 c.3495C>T c.(3493-3495)aaC>aaT p.N1165N PPL_ENST00000590782.2_Silent_p.N1163N NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1165 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CCACTTTGGCGTTCTCCTCCT 0.617000 21 130 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32164148 32164148 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr6:32164148G>A ENST00000375023.3 - 29 5389 c.5251C>T c.(5251-5253)Cgc>Tgc p.R1751C NOTCH4_ENST00000443903.2_Intron NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1751 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGAAGCGAGCGGGCGGCTCGG 0.627000 6 201 0 0 1 0 0 RABEP1 9135 broad.mit.edu 37 17 5266228 5266228 + Missense_Mutation SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr17:5266228C>T ENST00000262477.6 + 10 1809 c.1585C>T c.(1585-1587)Ctt>Ttt p.L529F NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Missense_Mutation_p.L529F|RABEP1_ENST00000341923.6_Missense_Mutation_p.L529F|RABEP1_ENST00000537505.1_Missense_Mutation_p.L486F|RABEP1_ENST00000408982.2_Missense_Mutation_p.L529F NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 529 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 TGGAAATAAACTTGGTAGACG 0.403000 13 53 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 7 105 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11319498 11319498 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr19:11319498G>A ENST00000294618.7 - 39 4963 c.4952C>T c.(4951-4953)tCa>tTa p.S1651L DOCK6_ENST00000319867.7_Missense_Mutation_p.S990L|CTC-510F12.2_ENST00000588634.1_RNA NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1651 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 CACGTTGGATGAGATGTTCTG 0.637000 4 58 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172835175 172835175 + Missense_Mutation SNP G G A rs141435669 TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr3:172835175G>A ENST00000351008.3 - 2 530 c.347C>T c.(346-348)cCc>cTc p.P116L NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 116 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding p.P116H(1) breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GTTCTTTAAGGGGATGTGAGG 0.418000 13 236 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30948045 30948045 + Missense_Mutation SNP A A G rs150148567 byFrequency TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr8:30948045A>G ENST00000298139.5 + 14 1966 c.1717A>G c.(1717-1719)Act>Gct p.T573A NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 573 Helicase ATP-binding. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TGTCATGGCAACTGGTAAGTT 0.294000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 4 214 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135076308 135076308 + Missense_Mutation SNP G G C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr2:135076308G>C ENST00000409645.1 + 5 823 c.571G>C c.(571-573)Gag>Cag p.E191Q MGAT5_ENST00000281923.2_Missense_Mutation_p.E191Q Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 191 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TTACCTCAGTGAGGTGAGTAG 0.453000 4 163 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125516758 125516758 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr10:125516758G>A ENST00000241305.3 - 12 2042 c.1888C>T c.(1888-1890)Cgg>Tgg p.R630W CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 630 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) AGAGATTCCCGGTTATTCTCC 0.537000 34 106 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39922969 39922969 + Missense_Mutation SNP G G T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chrX:39922969G>T ENST00000342274.4 - 8 3999 c.3637C>A c.(3637-3639)Cct>Act p.P1213T BCOR_ENST00000378444.4_Missense_Mutation_p.P1247T|BCOR_ENST00000397354.3_Missense_Mutation_p.P1213T|BCOR_ENST00000378455.4_Missense_Mutation_p.P1195T|BCOR_ENST00000378463.1_Missense_Mutation_p.P90T NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1247 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GTCCCCTGAGGAATGGCCTCA 0.557000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 7 259 0.0381472 0.0392803 1 1 0 MTUS2 23281 broad.mit.edu 37 13 29599533 29599533 + Missense_Mutation SNP A A G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr13:29599533A>G ENST00000431530.3 + 1 786 c.728A>G c.(727-729)gAc>gGc p.D243G NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 233 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CCTGCAACTGACAGTACCTCA 0.582000 3 33 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33596381 33596381 + Missense_Mutation SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr11:33596381C>T ENST00000321505.4 + 9 3653 c.3473C>T c.(3472-3474)gCc>gTc p.A1158V KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A1164V|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1164V KIAA1549-like CAAAGGATGGCCTTGACCCTT 0.468000 5 154 0 0 1 0 0 ANKRD46 157567 broad.mit.edu 37 8 101541853 101541853 + Missense_Mutation SNP T T G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr8:101541853T>G ENST00000520311.1 - 3 1012 c.209A>C c.(208-210)gAt>gCt p.D70A ANKRD46_ENST00000519597.1_Missense_Mutation_p.D70A|ANKRD46_ENST00000519316.1_Missense_Mutation_p.D70A|ANKRD46_ENST00000335659.3_Missense_Mutation_p.D70A|ANKRD46_ENST00000520552.1_Missense_Mutation_p.D70A NM_001270378.1 NP_001257307.1 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 70 integral to membrane kidney(1)|large_intestine(2)|lung(4) 7 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) GGCCAGAAGATCGGCACCGAA 0.463000 5 94 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52939363 52939363 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr12:52939363G>A ENST00000267119.5 - 8 1415 c.1346C>T c.(1345-1347)tCc>tTc p.S449F NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 449 Tail. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GCTGACAGGGGAGGGAAATTC 0.433000 4 102 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127963594 127963594 + Missense_Mutation SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr7:127963594C>T ENST00000223073.1 - 13 1504 c.1390G>A c.(1390-1392)Gcc>Acc p.A464T RBM28_ENST00000415472.2_Missense_Mutation_p.A323T NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 464 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 TCTCTTTTGGCCATATCAGCA 0.458000 5 218 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119914985 119914985 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr7:119914985G>A ENST00000331113.4 + 1 1264 c.299G>A c.(298-300)cGc>cAc p.R100H NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 100 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) AATTTCTACCGCACTGGGAAG 0.522000 26 300 0 0 1 0 0 ZC3H10 84872 broad.mit.edu 37 12 56515094 56515094 + Missense_Mutation SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr12:56515094C>T ENST00000257940.2 + 3 1024 c.748C>T c.(748-750)Cgg>Tgg p.R250W RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 250 nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) GCTCAGGAAGCGGGTAGAGGA 0.517000 4 108 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179552876 179552876 + Missense_Mutation SNP C C G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr2:179552876C>G ENST00000589042.1 - 127 32497 c.32273G>C c.(32272-32274)aGa>aCa p.R10758T TTN_ENST00000342992.6_Missense_Mutation_p.R9514T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R10441T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10441 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCCTCCTCTCTTTCTTCTTC 0.378000 6 244 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32813993 32813993 + Missense_Mutation SNP T T C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr13:32813993T>C ENST00000380250.3 + 46 7158 c.6662T>C c.(6661-6663)tTg>tCg p.L2221S NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2221 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GACATTACCTTGAATATGGTT 0.443000 19 56 0 0 1 0 0 ABCF1 23 broad.mit.edu 37 6 30554452 30554452 + Missense_Mutation SNP T T A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr6:30554452T>A ENST00000326195.8 + 20 2107 c.1995T>A c.(1993-1995)agT>agA p.S665R ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S627R NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 665 ABC transporter 2. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 TGGGGAAGAGTACGCTACTCC 0.547000 4 105 0 0 1 0 0 NKAIN2 154215 broad.mit.edu 37 6 124979412 124979412 + Silent SNP G G A rs142736368 byFrequency TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr6:124979412G>A ENST00000368417.1 + 4 414 c.354G>A c.(352-354)acG>acA p.T118T NKAIN2_ENST00000368416.1_Silent_p.T118T|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Silent_p.T103T NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 118 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) GTACGGTGACGTCAGTGACAC 0.488000 4 101 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84267197 84267197 + Missense_Mutation SNP G G C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr9:84267197G>C ENST00000376499.3 - 6 1368 c.304C>G c.(304-306)Caa>Gaa p.Q102E TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Missense_Mutation_p.Q46E NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 102 Gln-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GCCACCTGTTGTTGATGCTTT 0.463000 3 135 0 0 1 0 0 ZNF45 7596 broad.mit.edu 37 19 44418057 44418057 + Nonsense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr19:44418057G>A ENST00000269973.5 - 10 2621 c.1531C>T c.(1531-1533)Cag>Tag p.Q511* RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.Q511* NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 511 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 CTGGAGAACTGACTGAAGGCC 0.493000 4 65 0 0 1 0 0 PJA1 64219 broad.mit.edu 37 X 68382878 68382878 + Silent SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chrX:68382878G>A ENST00000361478.1 - 2 581 c.204C>T c.(202-204)agC>agT p.S68S PJA1_ENST00000374583.1_Silent_p.S68S|PJA1_ENST00000374584.3_Silent_p.S68S|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Silent_p.S13S NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 68 zinc ion binding endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 ATGGCGATCGGCTCCTCTTGG 0.542000 5 197 0 0 1 0 0 EEF1A2 1917 broad.mit.edu 37 20 62128979 62128979 + Silent SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr20:62128979C>T ENST00000217182.3 - 2 303 c.138G>A c.(136-138)gcG>gcA p.A46A EEF1A2_ENST00000298049.7_Silent_p.A46A NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 46 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) TCACCTCAGCCGCCTCCTTCT 0.612000 34 128 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158614129 158614129 + Missense_Mutation SNP G G T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr1:158614129G>T ENST00000368148.3 - 30 4432 c.4252C>A c.(4252-4254)Ctg>Atg p.L1418M SPTA1_ENST00000368147.3_Missense_Mutation_p.L1418M NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1418 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTGACCTCAGGGAATTCTCA 0.463000 8 139 0.0477658 0.0487023 1 1 0 HORMAD2 150280 broad.mit.edu 37 22 30517740 30517740 + Missense_Mutation SNP A A C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr22:30517740A>C ENST00000336726.6 + 9 885 c.530A>C c.(529-531)aAt>aCt p.N177T HORMAD2_ENST00000403975.1_Missense_Mutation_p.N177T NM_152510.2 NP_689723.1 Q8N7B1 HORM2_HUMAN HORMA domain containing 2 177 HORMA. meiosis|mitosis chromosome|nucleus large_intestine(1)|lung(1) 2 Epithelial(10;0.125) CTTCCTAATAATGTTGTACTT 0.348000 11 37 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95911974 95911974 + Missense_Mutation SNP G G C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr12:95911974G>C ENST00000258499.3 - 6 2383 c.2095C>G c.(2095-2097)Ccc>Gcc p.P699A USP44_ENST00000537435.2_Missense_Mutation_p.P699A|USP44_ENST00000393091.2_Missense_Mutation_p.P699A|USP44_ENST00000552440.1_3'UTR NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 699 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 TCTTCATTGGGATGTTGGCTC 0.393000 6 200 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43831006 43831006 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr22:43831006G>A ENST00000417669.1 + 3 721 c.277G>A c.(277-279)Gtc>Atc p.V93I MPPED1_ENST00000542779.1_Missense_Mutation_p.V93I|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.V93I|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Missense_Mutation_p.V126I O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 93 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CACCCGCTTCGTCTGCGTCTC 0.652000 6 158 0 0 1 0 0 B3GALT5 10317 broad.mit.edu 37 21 41033355 41033355 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr21:41033355G>A ENST00000380620.3 + 5 1461 c.869G>A c.(868-870)cGg>cAg p.R290Q B3GALT5_ENST00000398714.2_Missense_Mutation_p.R290Q|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R290Q|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R290Q|AF064860.5_ENST00000416555.1_RNA Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 290 protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) ATCAAGCCTCGGACTCTCTTG 0.577000 4 78 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2016629 2016629 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr12:2016629G>A ENST00000382722.5 - 6 1120 c.758C>T c.(757-759)aCt>aTt p.T253I CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T189I|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T189I NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 253 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GAAGAATCCAGTTGCACTGCC 0.468000 15 34 0 0 1 0 0 REG4 83998 broad.mit.edu 37 1 120342348 120342348 + Splice_Site SNP C C G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr1:120342348C>G ENST00000354219.1 - 5 742 c.303_splice c.e5+1 p.K101_splice REG4_ENST00000530654.1_Splice_Site_p.K101_splice|REG4_ENST00000256585.5_Splice_Site_p.K101_splice NM_001159352.1 NP_001152824.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 101 C-type lectin. extracellular region sugar binding central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) CTGAGGTTACCTTCTGTGGGT 0.532000 31 115 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373526 86373526 + Silent SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr12:86373526C>T ENST00000604798.1 - 8 2182 c.978G>A c.(976-978)aaG>aaA p.K326K MGAT4C_ENST00000393205.2_Silent_p.K355K|MGAT4C_ENST00000549405.2_Silent_p.K326K|MGAT4C_ENST00000332156.1_Silent_p.K326K|MGAT4C_ENST00000552808.2_Silent_p.K326K|MGAT4C_ENST00000552435.2_3'UTR|MGAT4C_ENST00000548651.1_Silent_p.K326K Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 326 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AATCATCATCCTTCAGCTTAT 0.408000 34 109 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138374292 138374292 + Missense_Mutation SNP T T C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr3:138374292T>C ENST00000477593.1 - 23 3225 c.3152A>G c.(3151-3153)gAa>gGa p.E1051G PIK3CB_ENST00000289153.2_Missense_Mutation_p.E1051G|PIK3CB_ENST00000544716.1_Missense_Mutation_p.E502G P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 1051 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AGTCCAGCTTTCCCTGAGCGC 0.423000 4 166 0 0 1 0 0 IGHV3-73 28409 broad.mit.edu 37 14 107211103 107211103 + RNA SNP T T C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr14:107211103T>C ENST00000390636.2 - 0 265 ACTCCAGCCCTTTCCCGGAAG 0.572000 3 75 0 0 1 0 0 TMEM45B 120224 broad.mit.edu 37 11 129722478 129722478 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr11:129722478G>A ENST00000281441.3 + 2 189 c.101G>A c.(100-102)cGg>cAg p.R34Q TMEM45B_ENST00000524567.1_Missense_Mutation_p.R34Q NM_138788.3 NP_620143.1 Q96B21 TM45B_HUMAN transmembrane protein 45B 34 integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) AGCCACACGCGGAAGAACAGC 0.507000 35 118 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93762381 93762381 + Missense_Mutation SNP G G C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr14:93762381G>C ENST00000334746.5 - 2 324 c.17C>G c.(16-18)tCt>tGt p.S6C BTBD7_ENST00000555525.1_Missense_Mutation_p.S6C|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.S6C NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 6 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AGGATAATTAGATGCATTAGC 0.433000 4 111 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941546 13941546 + Silent SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr19:13941546C>T ENST00000254323.2 + 13 2841 c.2652C>T c.(2650-2652)cgC>cgT p.R884R ZSWIM4_ENST00000440752.2_Silent_p.R718R NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 884 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) ATATTCTGCGCCGCTGGACTC 0.697000 29 94 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55119936 55119936 + Silent SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr6:55119936C>T ENST00000370862.3 + 3 741 c.405C>T c.(403-405)acC>acT p.T135T NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 135 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTCTCTAGACCGTGTCGGTGT 0.408000 3 68 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 64 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33073796 33073796 + Missense_Mutation SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr9:33073796C>T ENST00000397149.3 - 2 85 c.35G>A c.(34-36)cGc>cAc p.R12H SMU1_ENST00000536631.1_Intron NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 12 LisH. cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CATAATAAGGCGGATCACACT 0.443000 4 75 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43333135 43333135 + Nonsense_Mutation SNP A A C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr6:43333135A>C ENST00000361428.2 - 2 520 c.443T>G c.(442-444)tTa>tGa p.L148* ZNF318_ENST00000318149.3_Nonsense_Mutation_p.L148* NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 148 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) AGTGATCCTTAAGCTCTTTTC 0.468000 3 96 0 0 1 0 0 PGBD4 161779 broad.mit.edu 37 15 34396086 34396086 + Missense_Mutation SNP T T C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr15:34396086T>C ENST00000397766.2 + 1 1813 c.1354T>C c.(1354-1356)Tat>Cat p.Y452H NM_152595.4 NP_689808.2 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 452 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) CAAGGTTTGGTATAAGAAATT 0.408000 7 162 0 0 1 0 0 MIR4485 100616263 broad.mit.edu 37 MT 2465 2465 + RNA SNP T T C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chrM:2465T>C ENST00000387347.2 + 0 795 NR_039705.1 GGTTAAAAAAAGTAAAAGGAA 0.433000 2 7 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189591 124189591 + Missense_Mutation SNP A A C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr11:124189591A>C ENST00000357438.2 - 1 593 c.503T>G c.(502-504)tTc>tGc p.F168C NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AGACCTACAGAATGACAACAC 0.458000 22 87 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 101 0 0 1 0 0 HSPB2 3316 broad.mit.edu 37 11 111784509 111784509 + Missense_Mutation SNP C C G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr11:111784509C>G ENST00000304298.3 + 2 1027 c.439C>G c.(439-441)Cct>Gct p.P147A CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.P147A|CRYAB_ENST00000533475.1_5'UTR NM_001541.3 NP_001532.1 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 147 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) CCTGGAAGCACCTCGGGGTGG 0.592000 19 51 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48632612 48632612 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr17:48632612G>A ENST00000006658.6 + 16 2297 c.2177G>A c.(2176-2178)cGt>cAt p.R726H SPATA20_ENST00000393244.3_Missense_Mutation_p.R666H|SPATA20_ENST00000356488.4_Missense_Mutation_p.R710H|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 710 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) TGTGGAGACCGTCAGGCCAAG 0.597000 4 58 0 0 1 0 0 CCDC112 153733 broad.mit.edu 37 5 114620527 114620527 + Missense_Mutation SNP T T C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr5:114620527T>C ENST00000379611.5 - 2 483 c.196A>G c.(196-198)Aag>Gag p.K66E CCDC112_ENST00000395557.4_5'UTR|CCDC112_ENST00000506442.1_5'UTR|CCDC112_ENST00000503027.1_Intron|CCDC112_ENST00000512261.1_5'UTR NM_001040440.2 NP_001035530.1 Q8NEF3 CC112_HUMAN coiled-coil domain containing 112 0 endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1) 20 all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06) TCTGCTTTCTTAGTCTGATTA 0.323000 3 108 0 0 1 0 0 DBR1 51163 broad.mit.edu 37 3 137885942 137885942 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr3:137885942G>A ENST00000260803.4 - 5 848 c.695C>T c.(694-696)gCc>gTc p.A232V DBR1_ENST00000505015.2_5'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 232 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CATCAAGGCGGCAAACTTCAC 0.393000 4 116 0 0 1 0 0 C1orf141 400757 broad.mit.edu 37 1 67561005 67561005 + Silent SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr1:67561005C>T ENST00000371007.2 - 7 625 c.516G>A c.(514-516)ttG>ttA p.L172L C1orf141_ENST00000544837.1_Silent_p.L172L|C1orf141_ENST00000371006.1_Silent_p.L172L NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 172 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 ACAACGGGAGCAAGCTTTTCT 0.333000 18 72 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53595734 53595734 + Missense_Mutation SNP T T C TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chrX:53595734T>C ENST00000342160.3 - 48 7082 c.6625A>G c.(6625-6627)Atg>Gtg p.M2209V HUWE1_ENST00000262854.6_Missense_Mutation_p.M2209V Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2209 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ATGTTGTTCATGCCATTGTGC 0.517000 9 29 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 90 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20621392 20621392 + Missense_Mutation SNP G G T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr20:20621392G>T ENST00000202677.6 - 6 645 c.503C>A c.(502-504)cCt>cAt p.P168H NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 168 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CAGTGTGCAAGGGCCCCTGGA 0.478000 4 99 0.014758 0.0155033 1 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 3 34 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73053294 73053294 + Missense_Mutation SNP T T A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr10:73053294T>A ENST00000335350.6 + 12 2321 c.1905T>A c.(1903-1905)ttT>ttA p.F635L UNC5B_ENST00000373192.4_Missense_Mutation_p.F624L NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 635 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 ACTGGATCTTTCAGCTCAAGA 0.657000 8 142 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33630395 33630395 + Missense_Mutation SNP A A G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr6:33630395A>G ENST00000374316.5 + 9 1862 c.802A>G c.(802-804)Aca>Gca p.T268A ITPR3_ENST00000605930.1_Missense_Mutation_p.T268A Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 268 Inositol-1,4,5-triphosphate binding (By similarity).|MIR 3. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CCTGCGAACTACACTGCGCCA 0.612000 7 41 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr21:11058168A>T ENST00000470054.1 - 0 479 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACATCTTTCAGGAGCTTGGT 0.388000 4 179 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31914008 31914008 + Missense_Mutation SNP A A G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr6:31914008A>G ENST00000425368.2 + 1 523 c.10A>G c.(10-12)Aat>Gat p.N4D CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron NM_001710.5 NP_001701.2 P00751 CFAB_HUMAN complement factor B 4 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CATGGGGAGCAATCTCAGCCC 0.587000 5 149 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113166965 113166965 + Silent SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr3:113166965C>T ENST00000295872.4 - 16 2605 c.2346G>A c.(2344-2346)gaG>gaA p.E782E NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 782 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 GAATAGATACCTCAATTGTCC 0.348000 4 225 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63810648 63810648 + Splice_Site SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr10:63810648G>A ENST00000279873.7 + 5 1145 c.733_splice c.e5-1 p.A245_splice ARID5B_ENST00000309334.5_Splice_Site_p.A2_splice NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 245 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) TGTTTTCAGCGCCAAATCTTA 0.383000 4 120 0 0 1 0 0 C1orf63 57035 broad.mit.edu 37 1 25572997 25572997 + Missense_Mutation SNP C C G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr1:25572997C>G ENST00000243189.7 - 2 734 c.458G>C c.(457-459)aGa>aCa p.R153T C1orf63_ENST00000431849.2_Missense_Mutation_p.R153T|C1orf63_ENST00000417642.2_Missense_Mutation_p.R146T NM_020317.3 NP_064713.3 Q9BUV0 CA063_HUMAN chromosome 1 open reading frame 63 153 Arg-rich. breast(1)|large_intestine(1)|lung(4)|pancreas(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GTCCCTCCATCTGCTGTGCTC 0.582000 5 222 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203677096 203677096 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr1:203677096G>A ENST00000357681.5 + 10 2544 c.1421G>A c.(1420-1422)cGc>cAc p.R474H ATP2B4_ENST00000367219.3_Missense_Mutation_p.R462H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R474H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R474H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R474H NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 474 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) ACCATGAACCGCATGACTGTG 0.507000 4 125 0 0 1 0 0 C1QL3 389941 broad.mit.edu 37 10 16562527 16562527 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr10:16562527G>A ENST00000298943.3 - 1 1477 c.538C>T c.(538-540)Cgc>Tgc p.R180C NM_001010908.1 NP_001010908.1 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 180 C1q. collagen breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 13 TCCCCTCCGCGCATCAGGACG 0.657000 3 50 0 0 1 0 0 KIRREL2 84063 broad.mit.edu 37 19 36351226 36351226 + Missense_Mutation SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr19:36351226C>T ENST00000360202.5 + 6 899 c.701C>T c.(700-702)tCg>tTg p.S234L KIRREL2_ENST00000347900.6_Missense_Mutation_p.S184L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S214L|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S234L|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S234L NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 234 Ig-like C2-type 3. cell adhesion integral to membrane|plasma membrane p.S234L(2) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGTCTGCTTCGCCACACACT 0.602000 3 65 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134113264 134113264 + Splice_Site SNP A A T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr5:134113264A>T ENST00000452510.2 + 6 772 c.613_splice c.e6-1 p.D205_splice DDX46_ENST00000354283.4_Splice_Site_p.D205_splice NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 205 Poly-Asp. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTATTTTAGATGACGAAGAT 0.408000 25 100 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197169167 197169167 + Nonsense_Mutation SNP G G T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr1:197169167G>T ENST00000367405.4 - 1 505 c.437C>A c.(436-438)tCa>tAa p.S146* ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 146 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 AAAAAATTCTGATGTGTAAAG 0.333000 21 66 4.35082e-09 4.71338e-09 1 1 0 NAMPT 10135 broad.mit.edu 37 7 105902044 105902044 + Missense_Mutation SNP G G T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr7:105902044G>T ENST00000222553.3 - 8 1386 c.1079C>A c.(1078-1080)aCc>aAc p.T360N NAMPT_ENST00000354289.4_Missense_Mutation_p.T360N NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 360 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 CTCTTGTAAGGTATTAATATC 0.289000 43 188 1.65492e-34 1.83097e-34 1 1 0 VHL 7428 broad.mit.edu 37 3 10191480 10191480 + Missense_Mutation SNP T T A rs121913346 TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr3:10191480T>A ENST00000256474.2 + 3 1313 c.473T>A c.(472-474)cTg>cAg p.L158Q VHL_ENST00000345392.2_Missense_Mutation_p.L117Q|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 158 Interaction with Elongin BC complex. L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex).|L -> V (in VHLD; type I). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.L158Q(6)|p.L158P(5)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158>?(1)|p.L158fs*15(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) GTGTATACTCTGAAAGAGCGA 0.502000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 13 35 0 0 1 0 0 IGLV7-46 28775 broad.mit.edu 37 22 22724189 22724189 + RNA SNP C C G rs111551323 by1000genomes TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr22:22724189C>G ENST00000390295.2 + 0 119 GGAGCCCTCACTGACTGTGTC 0.512000 3 56 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23704955 23704955 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr9:23704955G>A ENST00000397312.2 - 4 722 c.448C>T c.(448-450)Cgc>Tgc p.R150C ELAVL2_ENST00000544538.1_Missense_Mutation_p.R150C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R150C|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R150C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R179C NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 150 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) GTAATAATGCGTCCATATTGT 0.428000 8 141 0 0 1 0 0 KIF5B 3799 broad.mit.edu 37 10 32320187 32320187 + Missense_Mutation SNP C C G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr10:32320187C>G ENST00000302418.4 - 14 1852 c.1395G>C c.(1393-1395)agG>agC p.R465S NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 465 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) TGTCTTGATCCCTTCTGGTAG 0.378000 T """RET, ALK""" NSCLC 14 75 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1787180 1787180 + Silent SNP C C A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr19:1787180C>A ENST00000539485.1 - 25 3338 c.3105G>T c.(3103-3105)ctG>ctT p.L1035L ATP8B3_ENST00000525591.1_Silent_p.L988L|ATP8B3_ENST00000310127.6_Silent_p.L1025L O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1025 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATCCTTCATACAGGGGCTGAG 0.602000 4 13 0.00909568 0.00965256 1 1 0 TRPM1 4308 broad.mit.edu 37 15 31355463 31355463 + Missense_Mutation SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr15:31355463C>T ENST00000542188.1 - 7 1187 c.874G>A c.(874-876)Gtg>Atg p.V292M TRPM1_ENST00000397795.2_Missense_Mutation_p.V253M|TRPM1_ENST00000256552.6_Missense_Mutation_p.V275M NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 253 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity p.V253L(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CCCTCCACCACGAGACCCACG 0.602000 18 169 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731748 140731748 + Missense_Mutation SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr5:140731748G>A ENST00000523390.1 + 1 1921 c.1921G>A c.(1921-1923)Gct>Act p.A641T PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGCTGGTCGCTGTGCGTGA 0.692000 3 58 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141756645 141756645 + Missense_Mutation SNP C C T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr7:141756645C>T ENST00000475668.2 + 30 3650 c.3596C>T c.(3595-3597)cCc>cTc p.P1199L MGAM_ENST00000549489.2_Missense_Mutation_p.P1199L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1199 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACGTTCCAGCCCCTGCCTGCC 0.512000 6 63 0 0 1 0 0 MBP 4155 broad.mit.edu 37 18 74692366 74692366 + Missense_Mutation SNP C C T rs145141322 by1000genomes TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr18:74692366C>T ENST00000528160.1 - 3 237 c.184G>A c.(184-186)Gga>Aga p.G62R MBP_ENST00000397875.3_3'UTR|MBP_ENST00000397869.3_3'UTR|MBP_ENST00000397866.4_3'UTR|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000526111.1_3'UTR|MBP_ENST00000397865.5_3'UTR|MBP_ENST00000355994.2_3'UTR|MBP_ENST00000382582.3_3'UTR|MBP_ENST00000354542.4_3'UTR|MBP_ENST00000527041.1_Intron|MBP_ENST00000359645.3_3'UTR P02686 MBP_HUMAN myelin basic protein 0 central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) GACAGGATTCCGGAACCAGGT 0.502000 12 191 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108682370 108682370 + Missense_Mutation SNP A A G TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr3:108682370A>G ENST00000232603.5 - 27 2772 c.2690T>C c.(2689-2691)aTa>aCa p.I897T MORC1_ENST00000483760.1_Missense_Mutation_p.I876T NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 897 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTCATTATGTATTCCTCTTGT 0.313000 4 242 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T T - TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr6:43323502delT ENST00000361428.2 - 4 1647 c.1570delA c.(1570-1572)ggfs p.R526fs ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 7 598 --- --- --- --- LOC101927487 101927487 broad.mit.edu 37 8 112230679 112230680 + RNA INS - - T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr8:112230679_112230680insT ENST00000522778.1 - 0 122 tTTCCTTTCCCttttttttttt 0.485 3 4 --- --- --- --- ATM 472 broad.mit.edu 37 11 108173586 108173586 + Frame_Shift_Del DEL G G - TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af8e4fc-79c3-448d-893c-6a25e7d41f48 731f468f-0c14-45d2-aae2-7155e8bbd5e1 g.chr11:108173586delG ENST00000278616.4 + 36 5711 c.5326delG c.(5326-5328)aafs p.E1776fs ATM_ENST00000452508.2_Frame_Shift_Del_p.E1776fs NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1776 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTAGTTTTTAGAAGTACCCAG 0.318 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 7 246 --- --- --- ---