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 EIF3D 8664 broad.mit.edu 37 22 36919950 36919950 + Silent SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr22:36919950C>T ENST00000216190.8 - 5 754 c.384G>A c.(382-384)caG>caA p.Q128Q EIF3D_ENST00000541106.1_Silent_p.Q79Q|EIF3D_ENST00000405442.1_Silent_p.Q128Q NM_003753.3 NP_003744.1 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3, subunit D 128 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 ACCTCTCTTTCTGTTTGGCAC 0.502000 35 28 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103453188 103453188 + Splice_Site SNP C C A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr1:103453188C>A ENST00000358392.2 - 30 2856 c.e30+1 COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CATTTACCAACCTTTTCTCCT 0.438000 8 26 0.0381472 0.0387625 1 1 0 CEACAM21 90273 broad.mit.edu 37 19 42091840 42091840 + Missense_Mutation SNP C C G TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr19:42091840C>G ENST00000407170.2 + 6 1271 c.458C>G c.(457-459)tCc>tGc p.S153C CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S280C|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S281C Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 281 Ig-like C2-type. integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 CCCCCAGCCTCCACCCCCGGT 0.572000 31 43 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17270624 17270624 + Missense_Mutation SNP A A G TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr1:17270624A>G ENST00000375541.5 + 14 1907 c.1838A>G c.(1837-1839)cAg>cGg p.Q613R CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 613 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CACAGCCTGCAGGTGGCCCAG 0.697000 3 13 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 128 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 36 44 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254021 39254021 + Missense_Mutation SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr17:39254021C>T ENST00000333822.4 - 1 372 c.316G>A c.(316-318)Gtg>Atg p.V106M NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 106 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 cagctggacacacagcagctg 0.672000 4 67 0 0 1 0 0 C5orf46 389336 broad.mit.edu 37 5 147281275 147281275 + Silent SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr5:147281275G>A ENST00000515291.1 - 2 168 c.132C>T c.(130-132)gaC>gaT p.D44D C5orf46_ENST00000318315.4_Silent_p.D44D|C5orf46_ENST00000510432.1_5'UTR Q6UWT4 CE046_HUMAN chromosome 5 open reading frame 46 44 extracellular region NS(1)|lung(1)|prostate(1) 3 ATTTGGGGAAGTCTGGCTTTG 0.502000 11 21 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178557078 178557078 + Missense_Mutation SNP C C A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr5:178557078C>A ENST00000251582.7 - 16 2413 c.2312G>T c.(2311-2313)gGc>gTc p.G771V NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 771 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GATGAACTTGCCTGTCTCCAG 0.572000 33 2 6.70999e-13 7.28843e-13 1 1 0 PALLD 23022 broad.mit.edu 37 4 169825035 169825035 + Missense_Mutation SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr4:169825035C>T ENST00000335742.7 + 15 3432 c.2075C>T c.(2074-2076)aCa>aTa p.T692I PALLD_ENST00000512127.1_Missense_Mutation_p.T468I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000505667.1_Missense_Mutation_p.T867I|PALLD_ENST00000507735.1_Missense_Mutation_p.T363I|PALLD_ENST00000261509.6_Missense_Mutation_p.T850I Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 1074 Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GGGAATTATACAATTATGGCT 0.443000 Pancreatic Cancer, Familial Clustering of 14 20 0 0 1 0 0 PEPD 5184 broad.mit.edu 37 19 34003603 34003603 + Missense_Mutation SNP G G C rs61734503 TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr19:34003603G>C ENST00000244137.6 - 2 130 c.97C>G c.(97-99)Cgg>Ggg p.R33G PEPD_ENST00000436370.3_Missense_Mutation_p.R33G|PEPD_ENST00000397032.4_Missense_Mutation_p.R33G NM_000285.3 NP_000276.2 P12955 PEPD_HUMAN peptidase D 33 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 17 Esophageal squamous(110;0.137) TTCCGCAGCCGCTCACACAGG 0.647000 12 48 0 0 1 0 0 PPP1R18 170954 broad.mit.edu 37 6 30647013 30647013 + Silent SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr6:30647013G>A ENST00000274853.3 - 2 3641 c.1765C>T c.(1765-1767)Ctg>Ttg p.L589L PPP1R18_ENST00000399199.3_Silent_p.L589L|PPP1R18_ENST00000488324.1_5'UTR NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 589 cytoplasm|cytoskeleton actin binding AGCAGCAGCAGCTCTTCCTCA 0.692000 24 51 0 0 1 0 0 PIGR 5284 broad.mit.edu 37 1 207110846 207110846 + Silent SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr1:207110846G>A ENST00000356495.4 - 4 822 c.639C>T c.(637-639)agC>agT p.S213S NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 213 Ig-like V-type 2. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCCCAGCATCGCTGAGCCTGA 0.483000 23 68 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293414 145293414 + Silent SNP A A G TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr1:145293414A>G ENST00000342960.5 + 1 44 c.9A>G c.(7-9)gtA>gtG p.V3V NBPF10_ENST00000369339.2_Silent_p.V3V|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCATGGTGGTATCAGCCGGCC 0.493000 45 1300 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52723052 52723052 + Missense_Mutation SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr19:52723052G>A ENST00000322088.6 + 10 1295 c.1237G>A c.(1237-1239)Gag>Aag p.E413K PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E358K|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.E234K NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 413 PP2A subunit C binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GGAGCTGGCTGAGGACGCCAA 0.627000 Mis clear cell ovarian carcinoma 20 33 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137917826 137917826 + Silent SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr2:137917826G>A ENST00000409968.1 + 6 1591 c.1413G>A c.(1411-1413)ccG>ccA p.P471P THSD7B_ENST00000413152.2_Silent_p.P440P|THSD7B_ENST00000272643.3_Silent_p.P471P|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GACCCGCCCCGTTGCCCTCTC 0.512000 39 48 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 45 1 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58982178 58982178 + Missense_Mutation SNP A A G TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr19:58982178A>G ENST00000536459.2 + 4 1028 c.319A>G c.(319-321)Act>Gct p.T107A ZNF324_ENST00000196482.3_Missense_Mutation_p.T107A O75467 Z324A_HUMAN zinc finger protein 324 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TGGGATGACTACTAGCGTCTT 0.552000 5 122 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21757493 21757493 + Missense_Mutation SNP A A G TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr7:21757493A>G ENST00000328843.6 + 44 7136 c.7105A>G c.(7105-7107)Aga>Gga p.R2369G DNAH11_ENST00000409508.3_Missense_Mutation_p.R2362G Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2369 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGATAAACTGAGAACAAGCTT 0.423000 Kartagener syndrome 4 79 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70070975 70070975 + Missense_Mutation SNP G G C TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr6:70070975G>C ENST00000370598.1 + 29 4631 c.3810G>C c.(3808-3810)ttG>ttC p.L1270F BAI3_ENST00000238918.8_Missense_Mutation_p.L476F|BAI3_ENST00000546190.1_Missense_Mutation_p.L234F NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1270 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATCCATGTTTGAAAAAAGAAA 0.403000 11 17 0 0 1 0 0 NAA35 60560 broad.mit.edu 37 9 88593281 88593281 + Missense_Mutation SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr9:88593281G>A ENST00000361671.5 + 11 995 c.862G>A c.(862-864)Gat>Aat p.D288N NAA35_ENST00000376040.1_Missense_Mutation_p.D288N NM_024635.3 NP_078911.3 Q5VZE5 NAA35_HUMAN N(alpha)-acetyltransferase 35, NatC auxiliary subunit 288 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 25 GGCCCAGAATGATACTACAAA 0.373000 15 22 0 0 1 0 0 PLAA 9373 broad.mit.edu 37 9 26919455 26919455 + Missense_Mutation SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr9:26919455C>T ENST00000397292.3 - 9 1687 c.1270G>A c.(1270-1272)Gat>Aat p.D424N PLAA_ENST00000520641.1_5'UTR|PLAA_ENST00000520884.1_Missense_Mutation_p.D424N NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 424 PFU. phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) CAAGGGTCATCACTGGTATTA 0.313000 34 69 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179472319 179472319 + Missense_Mutation SNP C C T rs72646808 by1000genomes TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr2:179472319C>T ENST00000589042.1 - 277 53320 c.53096G>A c.(53095-53097)cGc>cAc p.R17699H TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8634H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16058H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8759H|TTN_ENST00000342992.6_Missense_Mutation_p.R15131H|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8826H|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16058 Fibronectin type-III 28. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R15131H(2)|p.R8826H(1)|p.R8759H(1)|p.R8634H(1) 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) AGGTACAGGGCGACCAGTCAC 0.448000 201 206 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29754889 29754889 + Silent SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr22:29754889C>T ENST00000357586.2 - 5 537 c.351G>A c.(349-351)aaG>aaA p.K117K AP1B1_ENST00000415447.1_Silent_p.K117K|AP1B1_ENST00000405198.1_Silent_p.K117K|AP1B1_ENST00000356015.2_Silent_p.K117K|AP1B1_ENST00000432560.2_Silent_p.K117K|AP1B1_ENST00000317368.7_Silent_p.K117K|AP1B1_ENST00000402502.1_Silent_p.K117K NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 117 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 ACTCTGTGATCTTGTCAACGC 0.627000 8 13 0 0 1 0 0 DHH 50846 broad.mit.edu 37 12 49488228 49488228 + Missense_Mutation SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr12:49488228C>T ENST00000266991.2 - 1 374 c.68G>A c.(67-69)tGc>tAc p.C23Y NM_021044.2 NP_066382.1 O43323 DHH_HUMAN desert hedgehog 23 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding breast(1)|large_intestine(3)|lung(4) 8 gcccggcccgcAGCTCTGGGC 0.672000 10 11 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30924601 30924601 + Missense_Mutation SNP G G T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr8:30924601G>T ENST00000298139.5 + 6 806 c.557G>T c.(556-558)gGt>gTt p.G186V NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 186 3'-5' exonuclease.|Interaction with WRNIP1 (By similarity). 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) CACCTCTTAGGTAAACAGCTC 0.418000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 24 0 2.89027e-11 3.08622e-11 1 1 0 RFX1 5989 broad.mit.edu 37 19 14090342 14090342 + Nonsense_Mutation SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr19:14090342G>A ENST00000254325.4 - 7 985 c.751C>T c.(751-753)Cag>Tag p.Q251* NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 251 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) GGAGTGGCCTGGACCACAGAT 0.622000 97 74 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 34 0 0 1 0 0 RNASE2 6036 broad.mit.edu 37 14 21423973 21423973 + Silent SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr14:21423973C>T ENST00000304625.2 + 2 133 c.43C>T c.(43-45)Ctg>Ttg p.L15L NM_002934.2 NP_002925.1 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 15 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 17 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) TCTGCTTCTTCTGTTGGGGCT 0.463000 31 111 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4716886 4716886 + Silent SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr3:4716886G>A ENST00000354582.6 + 23 3083 c.2733G>A c.(2731-2733)gcG>gcA p.A911A ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.A911A|ITPR1_ENST00000443694.2_Silent_p.A896A|ITPR1_ENST00000456211.2_Silent_p.A896A|ITPR1_ENST00000302640.8_Silent_p.A896A|ITPR1_ENST00000423119.2_Silent_p.A911A Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 911 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GCAAGATGGCGAAAGGAGAAG 0.443000 25 38 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74329129 74329129 + Missense_Mutation SNP G G C TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr2:74329129G>C ENST00000409262.3 + 9 4809 c.4809G>C c.(4807-4809)aaG>aaC p.K1603N NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1603 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGGAGGCCAAGCTCTACGGGA 0.687000 16 23 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967462 4967462 + Missense_Mutation SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr11:4967462G>A ENST00000380373.2 - 1 894 c.869C>T c.(868-870)cCa>cTa p.P290L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAAACAATTGGGTTCGTCAG 0.423000 10 74 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291113 141291113 + Missense_Mutation SNP C C G TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chrX:141291113C>G ENST00000247452.3 - 3 1008 c.661G>C c.(661-663)Gat>Cat p.D221H NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 221 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) ATGCCCTCATCATCACTACCC 0.502000 HNSCC(46;0.14) 51 8 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135487643 135487643 + Splice_Site SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr9:135487643C>T ENST00000372159.3 - 19 2292 c.e19-1 DDX31_ENST00000372153.1_Splice_Site|DDX31_ENST00000438527.3_Splice_Site NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GACTGCAGAGCTGAAAGAAAA 0.562000 18 16 0 0 1 0 0 ADCK4 79934 broad.mit.edu 37 19 41216006 41216006 + Missense_Mutation SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr19:41216006C>T ENST00000324464.3 - 5 626 c.325G>A c.(325-327)Gag>Aag p.E109K ADCK4_ENST00000450541.1_Missense_Mutation_p.E109K|ADCK4_ENST00000243583.6_Missense_Mutation_p.E109K NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 109 integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) TTAGCCATCTCGGCCAGTACT 0.597000 40 44 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24656885 24656885 + RNA SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr22:24656885G>A ENST00000414583.2 + 0 1958 NR_003714.1 GAGGACGGAAGCAGAGGGTGC 0.622000 9 19 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37230808 37230808 + Missense_Mutation SNP T T C TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr2:37230808T>C ENST00000233099.5 - 31 5022 c.4927A>G c.(4927-4929)Agt>Ggt p.S1643G HEATR5B_ENST00000354531.2_Missense_Mutation_p.S1643G NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1643 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TGCAAAACACTCAGCAACTCA 0.343000 14 29 0 0 1 0 0 IGKV6-21 0 broad.mit.edu 37 2 89459332 89459332 + RNA SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr2:89459332C>T ENST00000390256.2 - 0 308 TCCACTGCCACTGAACCTCGA 0.498000 42 145 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138394427 138394427 + Missense_Mutation SNP C C G TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr7:138394427C>G ENST00000310018.2 - 21 2653 c.2371G>C c.(2371-2373)Gcc>Ccc p.A791P ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A791P|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A791P NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 791 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AGAAGGATGGCTACTGTCAGG 0.542000 97 115 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140532009 140532009 + Missense_Mutation SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr5:140532009C>T ENST00000231136.1 + 1 2171 c.2171C>T c.(2170-2172)tCg>tTg p.S724L PCDHB6_ENST00000543635.1_Missense_Mutation_p.S588L NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 724 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.S724L(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCGCTACTCGGTGCCCGAG 0.652000 12 157 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 49 0 0 1 0 0 OXTR 5021 broad.mit.edu 37 3 8809318 8809318 + Missense_Mutation SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr3:8809318C>T ENST00000316793.3 - 3 1180 c.556G>A c.(556-558)Gac>Aac p.D186N CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 186 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GCCCAGCAGTCGAAGACGCCG 0.662000 32 31 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47424519 47424519 + Missense_Mutation SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr19:47424519C>T ENST00000404338.3 + 1 2587 c.2587C>T c.(2587-2589)Cgt>Tgt p.R863C NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 863 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TTCAGCCAAACGTAAGGCCTC 0.438000 23 36 0 0 1 0 0 PTRF 284119 broad.mit.edu 37 17 40557062 40557062 + Silent SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr17:40557062C>T ENST00000357037.5 - 2 1235 c.816G>A c.(814-816)aaG>aaA p.K272K NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 272 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) TGTTCATGCGCTTCTCCAGGG 0.617000 27 31 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5436259 5436259 + Missense_Mutation SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr10:5436259C>T ENST00000380419.3 - 4 599 c.562G>A c.(562-564)Gtg>Atg p.V188M TUBAL3_ENST00000479328.1_Missense_Mutation_p.V148M NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 188 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 GGCTCTACCACAGCAGTGGAG 0.517000 51 33 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 4 45 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7129436 7129436 + Silent SNP C C G TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr17:7129436C>G ENST00000005340.5 - 15 2241 c.1959G>C c.(1957-1959)ggG>ggC p.G653G DVL2_ENST00000575458.1_Silent_p.G647G NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 653 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 TAGGGGCACCCCCAGTTGAGC 0.672000 38 5 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 24 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126682516 126682516 + Silent SNP G G A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr10:126682516G>A ENST00000309035.6 - 6 2569 c.2439C>T c.(2437-2439)ggC>ggT p.G813G CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 273 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCACCAGGCCGCCACGGGCTG 0.582000 4 220 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179301924 179301924 + Missense_Mutation SNP C C T TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr5:179301924C>T ENST00000356834.3 - 12 2201 c.2164G>A c.(2164-2166)Gag>Aag p.E722K TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E722K NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 722 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTCATGGCCTCGCCCTCGTCG 0.647000 48 4 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32550878 32550878 + Missense_Mutation SNP C C A TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr9:32550878C>A ENST00000360538.2 - 2 208 c.92G>T c.(91-93)aGt>aTt p.S31I TOPORS_ENST00000379858.1_Intron NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 31 E3 ubiquitin-protein ligase activity. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TACCCGGCGACTTCTCCGCCT 0.726000 9 13 0.0692343 0.0692343 1 1 0 ATP8B2 57198 broad.mit.edu 37 1 154315408 154315408 + Missense_Mutation SNP A A G TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr1:154315408A>G ENST00000368489.3 + 15 1523 c.1523A>G c.(1522-1524)cAt>cGt p.H508R NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 494 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCCCTGTGTCATACTGTCATG 0.572000 46 56 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr13:52864001A>G ENST00000451298.1 - 0 168 RP11-64P12.8_ENST00000606031.1_RNA GAAAAAATAAAGCAATAGCTA 0.313000 6 22 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 3 5 --- --- --- --- RP11-478C19.2 0 broad.mit.edu 37 12 110868215 110868216 + RNA DEL GT GT - rs113592903 TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr12:110868215_110868216delGT ENST00000550231.1 - 0 97 CAgtgtgtgcgtgtgtgtgtgt 0.490 3 6 --- --- --- --- HCFC1R1 54985 broad.mit.edu 37 16 3073909 3073909 + Frame_Shift_Del DEL G G - TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr16:3073909delG ENST00000248089.3 - 1 338 c.34delC c.(34-36)agfs p.Q12fs HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000572355.1_Intron|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.Q12fs NM_017885.2 NP_060355.1 Q9NWW0 HPIP_HUMAN host cell factor C1 regulator 1 (XPO1 dependent) 12 cytoplasm|nucleus breast(1)|large_intestine(1)|upper_aerodigestive_tract(1) 3 GCCCCTCCCTGGGGGCCTCGC 0.711 2 4 --- --- --- --- PALM 5064 broad.mit.edu 37 19 740396 740396 + Frame_Shift_Del DEL G G - TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr19:740396delG ENST00000338448.5 + 8 593 c.547delG c.(547-549)ggfs p.G183fs PALM_ENST00000264560.7_Intron|PALM_ENST00000606643.1_Intron NM_002579.2 NP_002570.2 O75781 PALM_HUMAN paralemmin 183 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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)|Lung(535;0.201) CAAGGTGACAGGGGAGACCAG 0.652 2 4 --- --- --- --- CTC-559E9.6 0 broad.mit.edu 37 19 19944580 19944580 + RNA DEL T T - TCGA-NG-A4VU-01A-11D-A28R-08 TCGA-NG-A4VU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13a72df3-4f78-47e7-ba26-f59dd23f3e86 2551e882-f53e-42d6-84a3-ed52888aacea g.chr19:19944580delT ENST00000591884.1 + 0 520 ATGTTTAATCttttttttttt 0.378 2 4 --- --- --- ---