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 SCN2A 6326 broad.mit.edu 37 2 166246006 166246006 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr2:166246006C>T ENST00000357398.3 + 27 5980 c.5690C>T c.(5689-5691)aCg>aTg p.T1897M SCN2A_ENST00000375427.2_Missense_Mutation_p.T1897M|SCN2A_ENST00000375437.2_Missense_Mutation_p.T1897M|SCN2A_ENST00000283256.6_Missense_Mutation_p.T1897M Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1897 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GAGCCCATTACGACCACGTTG 0.453000 9 40 0 0 1 0 0 CSRP1 1465 broad.mit.edu 37 1 201453913 201453913 + Silent SNP A A G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:201453913A>G ENST00000367306.1 - 7 873 c.510T>C c.(508-510)tgT>tgC p.C170C CSRP1_ENST00000533432.1_Silent_p.C170C|CSRP1_ENST00000340006.2_Silent_p.C170C|CSRP1_ENST00000532460.1_Silent_p.C170C|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000526723.1_Silent_p.C137C P21291 CSRP1_HUMAN cysteine and glycine-rich protein 1 170 LIM zinc-binding 2. nucleus zinc ion binding large_intestine(3)|lung(2)|ovary(1) 6 TTTTAGCATAACATCCTGCAG 0.592000 6 26 0 0 1 0 0 GDPD5 81544 broad.mit.edu 37 11 75146556 75146556 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr11:75146556C>T ENST00000526177.1 - 13 3278 c.1400G>A c.(1399-1401)cGt>cAt p.R467H GDPD5_ENST00000336898.3_Missense_Mutation_p.R605H|GDPD5_ENST00000529721.1_Missense_Mutation_p.R605H|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.R486H|GDPD5_ENST00000533805.1_Missense_Mutation_p.R360H|GDPD5_ENST00000376282.3_Missense_Mutation_p.R486H Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 605 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 CTTCAGCTAACGCCCACTCCG 0.592000 13 61 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4165101 4165101 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr16:4165101G>A ENST00000294016.3 - 2 881 c.343C>T c.(343-345)Cgg>Tgg p.R115W NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 115 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TACCGGAACCGGCGCTGGGTC 0.627000 13 59 0 0 1 0 0 PYCARD 29108 broad.mit.edu 37 16 31213495 31213495 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr16:31213495C>T ENST00000247470.9 - 2 605 c.304G>A c.(304-306)Gcc>Acc p.A102T C16orf98_ENST00000561916.2_Intron|PYCARD_ENST00000350605.4_Intron NM_013258.4 NP_037390.2 Q9ULZ3 ASC_HUMAN PYD and CARD domain containing 102 induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding NS(1)|kidney(1) 2 TGAGGAGGGGCCTGGATCCCA 0.701000 11 28 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55422829 55422829 + Silent SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:55422829C>T ENST00000341048.4 - 8 868 c.717G>A c.(715-717)gcG>gcA p.A239A ANKRD55_ENST00000505970.2_Intron|ANKRD55_ENST00000504958.2_Silent_p.A196A NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 238 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) AGCCCGCTGCCGCTGCGATAT 0.493000 4 124 0 0 1 0 0 ITPRIP 85450 broad.mit.edu 37 10 106075334 106075334 + Missense_Mutation SNP C C T rs145318706 TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr10:106075334C>T ENST00000278071.2 - 3 928 c.476G>A c.(475-477)cGt>cAt p.R159H ITPRIP_ENST00000358187.2_Missense_Mutation_p.R159H|ITPRIP_ENST00000337478.1_Missense_Mutation_p.R159H NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 159 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 CTCCCGGGTACGGGCTGCATC 0.657000 4 67 0 0 1 0 0 ZNF281 23528 broad.mit.edu 37 1 200376763 200376763 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:200376763G>C ENST00000294740.2 - 2 2195 c.2071C>G c.(2071-2073)Caa>Gaa p.Q691E ZNF281_ENST00000367352.3_Missense_Mutation_p.Q655E|ZNF281_ENST00000367353.1_Missense_Mutation_p.Q691E NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 691 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 CTGACAAATTGGAAACCGTGT 0.388000 6 157 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 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.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 66 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 8 37 0 0 1 0 0 ZFP28 140612 broad.mit.edu 37 19 57065054 57065054 + Splice_Site SNP C C G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr19:57065054C>G ENST00000301318.3 + 8 971 c.898_splice c.e8-1 p.G300_splice AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) ATCTTTCAGGCCAGCGATCTG 0.378000 8 51 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143558527 143558527 + Silent SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr8:143558527C>T ENST00000517894.1 + 5 2004 c.1110C>T c.(1108-1110)tgC>tgT p.C370C BAI1_ENST00000323289.5_Silent_p.C370C O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 370 TSP type-1 2. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCAGCACCTGCGGCGAGGGCT 0.697000 5 22 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50158587 50158587 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr15:50158587C>T ENST00000284509.6 - 26 3263 c.3122G>A c.(3121-3123)aGt>aAt p.S1041N ATP8B4_ENST00000559829.1_Missense_Mutation_p.S1041N NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1041 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GATGCCATTACTGTGCATTGT 0.403000 23 68 0 0 1 0 0 MTERFD2 130916 broad.mit.edu 37 2 242039186 242039186 + Nonsense_Mutation SNP C C A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr2:242039186C>A ENST00000391980.2 - 2 203 c.145G>T c.(145-147)Gga>Tga p.G49* MTERFD2_ENST00000495694.1_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000407095.3_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000406593.1_Intron NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 49 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) ATGACCCCTCCATTGGAGGCT 0.512000 8 87 0.000157383 0.000171154 1 1 0 TLN1 7094 broad.mit.edu 37 9 35725562 35725562 + Splice_Site SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr9:35725562G>A ENST00000314888.9 - 2 483 c.130_splice c.e2+1 p.P44_splice TLN1_ENST00000540444.1_Splice_Site_p.P44_splice NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 44 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCAGACTCACGAGGACCAGCT 0.587000 46 91 0 0 1 0 0 MED27 9442 broad.mit.edu 37 9 134889831 134889831 + Silent SNP T T C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr9:134889831T>C ENST00000292035.5 - 3 435 c.372A>G c.(370-372)gcA>gcG p.A124A MED27_ENST00000357028.2_Silent_p.A86A|MED27_ENST00000372184.3_Silent_p.A124A NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 124 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) AAAGGCCAGATGCTAGTCCTG 0.423000 6 34 0 0 1 0 0 SPDL1 54908 broad.mit.edu 37 5 169015536 169015536 + Missense_Mutation SNP A A T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:169015536A>T ENST00000265295.4 + 2 395 c.116A>T c.(115-117)aAt>aTt p.N39I SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 GAATTACAGAATCAATTGGAT 0.408000 15 42 0 0 1 0 0 FCGRT 2217 broad.mit.edu 37 19 50028719 50028719 + Missense_Mutation SNP C C G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr19:50028719C>G ENST00000221466.5 + 6 1363 c.877C>G c.(877-879)Cca>Gca p.P293A FCGRT_ENST00000426395.3_Missense_Mutation_p.P293A|FCGRT_ENST00000596975.1_Missense_Mutation_p.P201A|FCGRT_ENST00000599988.1_Missense_Mutation_p.P27A NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 293 Connecting peptide. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) TGCAGAATCTCCAGCCAAGTC 0.617000 12 127 0 0 1 0 0 SQLE 6713 broad.mit.edu 37 8 126030321 126030321 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr8:126030321G>A ENST00000265896.5 + 8 2123 c.1225G>A c.(1225-1227)Gca>Aca p.A409T SQLE_ENST00000523430.1_Missense_Mutation_p.A314T NM_003129.3 NP_003120.2 Q14534 ERG1_HUMAN squalene epoxidase 409 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) TTTGGGAGACGCATATAATAT 0.353000 14 27 0 0 1 0 0 COX11 1353 broad.mit.edu 37 17 53040259 53040259 + Missense_Mutation SNP T T G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr17:53040259T>G ENST00000299335.3 - 4 804 c.666A>C c.(664-666)gaA>gaC p.E222D NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) 222 respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 TAAGCCTTTGTTCTTCAAAAC 0.308000 7 63 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7437324 7437324 + Missense_Mutation SNP G G T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr11:7437324G>T ENST00000318881.6 + 4 1333 c.1096G>T c.(1096-1098)Gct>Tct p.A366S NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 366 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TCTTCCAACGGCTGGCAGGCT 0.443000 22 59 1.55795e-14 1.88252e-14 1 1 0 SPTBN1 0 broad.mit.edu 37 2 54895540 54895540 + Missense_Mutation SNP A A G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr2:54895540A>G ENST00000356805.4 + 36 7210 c.6929A>G c.(6928-6930)aAa>aGa p.K2310R NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 2310 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) TCCTCTGATAAACACGAGGTG 0.592000 27 59 0 0 1 0 0 BTBD9 114781 broad.mit.edu 37 6 38545497 38545497 + Splice_Site SNP T T A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr6:38545497T>A ENST00000481247.1 - 6 1186 c.e6-2 BTBD9_ENST00000314100.6_Splice_Site|BTBD9_ENST00000419706.2_Splice_Site|BTBD9_ENST00000403056.1_Splice_Site|BTBD9_ENST00000408958.1_Splice_Site NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 cell adhesion p.?(2) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 GAGTAAGACCTGTGAATCAAA 0.308000 3 40 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810483 106810483 + Silent SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr11:106810483C>T ENST00000526355.1 - 4 1377 c.909G>A c.(907-909)aaG>aaA p.K303K GUCY1A2_ENST00000347596.2_Silent_p.K303K|GUCY1A2_ENST00000282249.2_Silent_p.K303K NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 303 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GTGGAAGGTTCTTCATGATAT 0.428000 9 35 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64326610 64326610 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr11:64326610G>A ENST00000301891.4 + 2 771 c.397G>A c.(397-399)Gac>Aac p.D133N SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000377581.3_Missense_Mutation_p.D133N NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 133 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) CTTGCAGTGGGACCTGGTGTG 0.637000 27 76 0 0 1 0 0 SOAT2 8435 broad.mit.edu 37 12 53509947 53509947 + Nonsense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr12:53509947C>T ENST00000301466.3 + 7 835 c.775C>T c.(775-777)Cga>Tga p.R259* NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 259 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 TCGTGCCAGACGAGGTGAGGC 0.542000 6 60 0 0 1 0 0 FCRLB 127943 broad.mit.edu 37 1 161697142 161697142 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:161697142C>T ENST00000367948.2 + 8 1186 c.971C>T c.(970-972)tCg>tTg p.S324L FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.R276W|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.R269W|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.S324L Q6BAA4 FCRLB_HUMAN Fc receptor-like B 324 endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GTGTCCAGATCGGTCCCGTTG 0.721000 3 58 0 0 1 0 0 CLCN3 0 broad.mit.edu 37 4 170625290 170625290 + Missense_Mutation SNP A A T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr4:170625290A>T ENST00000513761.1 + 10 2264 c.1705A>T c.(1705-1707)Att>Ttt p.I569F CLCN3_ENST00000347613.4_Missense_Mutation_p.I569F|CLCN3_ENST00000360642.3_Missense_Mutation_p.I542F|CLCN3_ENST00000504131.2_Missense_Mutation_p.I552F NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 569 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GGCTGATTGCATTACACCTGG 0.517000 4 51 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 4 31 0 0 1 0 0 AP000346.2 0 broad.mit.edu 37 22 23980968 23980968 + RNA SNP T T A rs13056126 by1000genomes TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr22:23980968T>A ENST00000390329.2 - 0 160 AP000347.4_ENST00000430707.2_RNA GGGCGTGGTCTTCTCCACGCT 0.562000 4 72 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128973613 128973613 + Silent SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr10:128973613G>A ENST00000522781.1 - 4 1602 c.1047C>T c.(1045-1047)atC>atT p.I349I FAM196A_ENST00000424811.2_Silent_p.I349I|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 349 p.I349I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TATGAGGCACGATTCGTTGGC 0.552000 4 209 0 0 1 0 0 TNFSF14 0 broad.mit.edu 37 19 6670031 6670031 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr19:6670031G>A ENST00000326176.9 - 2 431 c.50C>T c.(49-51)aCc>aTc p.T17I TNFSF14_ENST00000599359.1_Missense_Mutation_p.T17I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.T17I NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 17 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 TGGGATGTCGGTCTGTCCATC 0.627000 6 127 0 0 1 0 0 CAV3 859 broad.mit.edu 37 3 8787407 8787407 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr3:8787407G>C ENST00000343849.2 + 2 387 c.310G>C c.(310-312)Gtg>Ctg p.V104L CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.V104L NM_001234.4|NM_033337.2 NP_001225.1|NP_203123.1 P56539 CAV3_HUMAN caveolin 3 104 Required for interaction with DAG1. cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 CTGGGCGGTGGTGCCATGCAT 0.607000 7 51 0 0 1 0 0 HRH2 0 broad.mit.edu 37 5 175110245 175110245 + Silent SNP C C A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:175110245C>A ENST00000231683.2 + 1 1782 c.9C>A c.(7-9)ccC>ccA p.P3P HRH2_ENST00000377291.2_Silent_p.P3P NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 3 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) GGATGGCACCCAATGGCACAG 0.567000 5 236 1 1 1 1 0 IGHV1-46 0 broad.mit.edu 37 14 106967145 106967145 + RNA SNP G G T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr14:106967145G>T ENST00000390622.2 - 0 558 TGGTGACTCTGCCCTGGAACT 0.557000 50 171 1.30409e-13 1.55419e-13 1 1 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 7 50 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29627139 29627139 + Silent SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr6:29627139G>C ENST00000376894.4 + 2 250 c.132G>C c.(130-132)ctG>ctC p.L44L MOG_ENST00000376917.3_Silent_p.L44L|MOG_ENST00000376898.3_Silent_p.L44L|MOG_ENST00000533330.2_Silent_p.L44L|MOG_ENST00000494692.1_Silent_p.L44L|MOG_ENST00000490427.1_Intron|MOG_ENST00000376902.3_Silent_p.L44L|MOG_ENST00000431798.2_Silent_p.L44L|MOG_ENST00000483013.1_Intron|MOG_ENST00000416766.2_Silent_p.L44L|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376891.4_Silent_p.L44L|MOG_ENST00000396704.3_Silent_p.L44L|MOG_ENST00000376888.2_Intron|MOG_ENST00000396701.2_Silent_p.L44L Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 44 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 TCCGGGCTCTGGTCGGGGATG 0.552000 60 192 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33656197 33656197 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr6:33656197G>A ENST00000374316.5 + 49 7617 c.6557G>A c.(6556-6558)cGc>cAc p.R2186H ITPR3_ENST00000605930.1_Missense_Mutation_p.R2186H Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2186 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 GAGTGGCAGCGCAAGCTCCGC 0.622000 3 30 0 0 1 0 0 PCDHGA9 0 broad.mit.edu 37 5 140784549 140784549 + Missense_Mutation SNP G G T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:140784549G>T ENST00000573521.1 + 1 2030 c.2030G>T c.(2029-2031)aGt>aTt p.S677I PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCTGGGCAGTCTTCAGATC 0.592000 18 118 2.21704e-12 2.60651e-12 1 1 0 SLC26A2 1836 broad.mit.edu 37 5 149359955 149359955 + Missense_Mutation SNP T T A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:149359955T>A ENST00000286298.4 + 3 1067 c.799T>A c.(799-801)Tct>Act p.S267T NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 267 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TATTCTTACATCTCAGGCCAA 0.473000 4 133 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134256 119134256 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr3:119134256G>C ENST00000264245.4 + 12 4012 c.3480G>C c.(3478-3480)caG>caC p.Q1160H NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1160 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 TTTACTCCCAGGACCCCCAGG 0.532000 25 35 0 0 1 0 0 TMED9 54732 broad.mit.edu 37 5 177019240 177019240 + Missense_Mutation SNP C C A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:177019240C>A ENST00000332598.6 + 1 82 c.25C>A c.(25-27)Ctc>Atc p.L9I NM_017510.4 NP_059980.2 Q9BVK6 TMED9_HUMAN transmembrane emp24 protein transport domain containing 9 9 transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGCGTGCTGCTCGTCCGGCC 0.736000 4 30 2.56e-06 2.85538e-06 1 1 0 ARHGEF39 84904 broad.mit.edu 37 9 35662653 35662653 + Silent SNP A A G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr9:35662653A>G ENST00000378387.3 - 7 876 c.759T>C c.(757-759)gaT>gaC p.D253D ARHGEF39_ENST00000378395.2_Silent_p.D217D|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000343259.3_Intron NM_032818.2 NP_116207.2 Rho guanine nucleotide exchange factor (GEF) 39 TGAGGAGCACATCAGTGAAGA 0.647000 5 17 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158605702 158605702 + Splice_Site SNP C C A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:158605702C>A ENST00000368148.3 - 38 5613 c.e38+1 SPTA1_ENST00000368147.3_Splice_Site NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 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) ATCCCACTCACCGGGCCTTGG 0.537000 4 115 0.00116845 0.001255 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78790136 78790136 + Missense_Mutation SNP T T C rs62556589 TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr9:78790136T>C ENST00000376767.3 + 14 2503 c.1991T>C c.(1990-1992)aTg>aCg p.M664T PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 tggaatggaatgaaatggaat 0.423000 4 23 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58300782 58300782 + Missense_Mutation SNP T T G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr17:58300782T>G ENST00000300896.4 - 14 1792 c.1598A>C c.(1597-1599)gAa>gCa p.E533A USP32_ENST00000592339.1_Missense_Mutation_p.E203A NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 533 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CTTTACTGGTTCTTGAGTTAC 0.338000 15 30 0 0 1 0 0 ZNF813 126017 broad.mit.edu 37 19 53993793 53993793 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr19:53993793G>C ENST00000396403.4 + 4 435 c.307G>C c.(307-309)Gaa>Caa p.E103Q ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E103K(1) large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TCAGTGGCAAGAAGATGAAAG 0.403000 37 103 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50165379 50165379 + Missense_Mutation SNP C C A rs142339594 TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr19:50165379C>A ENST00000597198.1 - 6 1189 c.808G>T c.(808-810)Ggg>Tgg p.G270W IRF3_ENST00000598808.1_Missense_Mutation_p.G124W|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377139.3_Missense_Mutation_p.G270W|IRF3_ENST00000599144.1_Missense_Mutation_p.G124W|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.G270W|IRF3_ENST00000601291.1_Missense_Mutation_p.G270W|IRF3_ENST00000593922.1_Missense_Mutation_p.G124W|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000309877.7_Missense_Mutation_p.G270W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000377135.4_Intron Q14653 IRF3_HUMAN interferon regulatory factor 3 270 Involved in HERC5 binding. interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) GCCAGTCCCCCACCCAGGCAG 0.667000 4 54 1 1 1 1 0 INSL6 11172 broad.mit.edu 37 9 5185354 5185354 + Silent SNP C C T rs146054352 by1000genomes TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr9:5185354C>T ENST00000381641.3 - 1 314 c.249G>A c.(247-249)ccG>ccA p.P83P NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 83 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) AAGCGGTTTGCGGGCTTTCGA 0.527000 14 181 0 0 1 0 0 NKTR 4820 broad.mit.edu 37 3 42684054 42684054 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr3:42684054C>T ENST00000232978.8 + 14 4296 c.4108C>T c.(4108-4110)Cgg>Tgg p.R1370W RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1370 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) AACCAGAAGCCGGAGCAGTTC 0.438000 5 76 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25341516 25341516 + Silent SNP A A C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr8:25341516A>C ENST00000330560.3 + 10 1632 c.1155A>C c.(1153-1155)ctA>ctC p.L385L CDCA2_ENST00000380665.3_Silent_p.L370L|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 385 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) CTGCCTTTCTAAATATGAGGA 0.338000 12 32 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153732836 153732836 + Silent SNP C C A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:153732836C>A ENST00000456435.1 + 12 1855 c.669C>A c.(667-669)atC>atA p.I223I INTS3_ENST00000512605.1_Silent_p.I223I|INTS3_ENST00000318967.2_Silent_p.I429I|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.I429I Q68E01 INT3_HUMAN integrator complex subunit 3 430 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACCCAGCCATCACTGCCACAC 0.522000 5 54 1 1 1 1 0 UPP1 7378 broad.mit.edu 37 7 48146608 48146608 + Missense_Mutation SNP T T C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr7:48146608T>C ENST00000331803.4 + 8 1198 c.575T>C c.(574-576)cTg>cCg p.L192P UPP1_ENST00000395564.4_Missense_Mutation_p.L192P|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Missense_Mutation_p.L55P|UPP1_ENST00000341253.4_Missense_Mutation_p.L192P Q16831 UPP1_HUMAN uridine phosphorylase 1 192 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 GAGCTGTTGCTGTGTTCTGCA 0.542000 19 75 0 0 1 0 0 BARD1 580 broad.mit.edu 37 2 215645757 215645757 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr2:215645757G>A ENST00000260947.4 - 4 975 c.841C>T c.(841-843)Cca>Tca p.P281S BARD1_ENST00000449967.2_Missense_Mutation_p.P137S|BARD1_ENST00000471787.1_5'UTR NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 281 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCAGCCAATGGTAAAGAGACT 0.383000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 20 45 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_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 3 58 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140531641 140531641 + Silent SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:140531641G>A ENST00000231136.1 + 1 1803 c.1803G>A c.(1801-1803)tcG>tcA p.S601S PCDHB6_ENST00000543635.1_Silent_p.S465S NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 601 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding 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) CCTGGCTGTCGTACCAGCTGC 0.716000 23 75 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6703665 6703665 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr12:6703665G>A ENST00000309577.6 - 15 2436 c.2273C>T c.(2272-2274)aCt>aTt p.T758I CHD4_ENST00000544484.1_Missense_Mutation_p.T755I|CHD4_ENST00000357008.2_Missense_Mutation_p.T758I|CHD4_ENST00000544040.1_Missense_Mutation_p.T751I Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 758 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGTCTGTACAGTTTTCCCAAG 0.493000 26 62 0 0 1 0 0 MSRB1 51734 broad.mit.edu 37 16 1990838 1990838 + Missense_Mutation SNP G G T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr16:1990838G>T ENST00000361871.3 - 3 429 c.260C>A c.(259-261)cCc>cAc p.P87H MSRB1_ENST00000564908.1_Silent_p.P133P|MSRB1_ENST00000399753.2_Silent_p.P208P NM_016332.2 NP_057416.1 Q9NZV6 MSRB1_HUMAN methionine sulfoxide reductase B1 87 protein repair cytoplasm|nucleus peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding L-Methionine(DB00134) CCCCGGCTTGGGGCCGTCGTT 0.577000 6 72 4.096e-09 4.75136e-09 1 1 0 SNAPC1 6617 broad.mit.edu 37 14 62233593 62233593 + Splice_Site SNP G G T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr14:62233593G>T ENST00000216294.4 + 2 232 c.e2-1 RP11-618G20.1_ENST00000555937.1_RNA NM_003082.3 NP_003073.1 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, polypeptide 1, 43kDa regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) CTGTTTATTAGTGGCAGAATG 0.308000 8 14 5.18039e-06 5.70499e-06 1 1 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 3 36 0 0 1 0 0 ZNF281 23528 broad.mit.edu 37 1 200376772 200376772 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:200376772G>C ENST00000294740.2 - 2 2186 c.2062C>G c.(2062-2064)Cac>Gac p.H688D ZNF281_ENST00000367352.3_Missense_Mutation_p.H652D|ZNF281_ENST00000367353.1_Missense_Mutation_p.H688D NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 688 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 TGGAAACCGTGTCCAAGAGTA 0.393000 7 163 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28576863 28576863 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr18:28576863C>T ENST00000434452.1 - 15 2541 c.2387G>A c.(2386-2388)gGg>gAg p.G796E DSC3_ENST00000360428.4_Missense_Mutation_p.G796E NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 796 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) ATGATGATGCCCAGCCCCCCG 0.517000 12 37 0 0 1 0 0 EIF2S3 1968 broad.mit.edu 37 X 24075812 24075812 + Silent SNP T T C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chrX:24075812T>C ENST00000253039.4 + 4 577 c.324T>C c.(322-324)agT>agC p.S108S NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 108 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 GTGGGAGCAGTACACCTGACG 0.373000 4 33 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696425 47696425 + Missense_Mutation SNP A A C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr17:47696425A>C ENST00000393331.3 - 7 868 c.398T>G c.(397-399)tTc>tGc p.F133C SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133C(3)|p.F133S(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GAATTTCTTGAATCCCCAGTC 0.448000 Prostate(2;0.17) 29 126 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113172713 113172713 + Missense_Mutation SNP T T C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr3:113172713T>C ENST00000295872.4 - 14 2001 c.1742A>G c.(1741-1743)gAg>gGg p.E581G NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 581 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 TAAGGTCTTCTCTTCCCAATT 0.403000 4 88 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424212 56424212 + Missense_Mutation SNP T T G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr19:56424212T>G ENST00000588751.1 - 5 995 c.971A>C c.(970-972)gAg>gCg p.E324A NLRP13_ENST00000342929.3_Missense_Mutation_p.E324A Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 324 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATCCAAGCTCTCAGAGCGTGA 0.458000 16 63 0 0 1 0 0 PCDHA12 0 broad.mit.edu 37 5 140257020 140257020 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:140257020G>A ENST00000398631.2 + 1 1963 c.1963G>A c.(1963-1965)Ggt>Agt p.G655S PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGGACCACGGTGAGCCCGC 0.687000 4 81 0 0 1 0 0 CA6 765 broad.mit.edu 37 1 9031007 9031007 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:9031007C>T ENST00000377443.2 + 7 815 c.811C>T c.(811-813)Cac>Tac p.H271Y CA6_ENST00000377442.2_Missense_Mutation_p.H211Y|CA6_ENST00000377436.3_Missense_Mutation_p.H271Y|CA6_ENST00000476083.1_3'UTR NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI 271 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GCCCCTGAACCACAGAGTGGT 0.532000 15 74 0 0 1 0 0 AMER2 219287 broad.mit.edu 37 13 25744275 25744275 + Silent SNP G G T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr13:25744275G>T ENST00000357816.2 - 3 1601 c.1126C>A c.(1126-1128)Cgg>Agg p.R376R AMER2_ENST00000381853.3_Silent_p.R376R|AMER2_ENST00000515384.1_Silent_p.R495R APC membrane recruitment protein 2 ATGGGAATCCGGTTGAGCCTC 0.642000 9 56 3.09899e-07 3.50145e-07 1 1 0 CDCA2 157313 broad.mit.edu 37 8 25341608 25341608 + Missense_Mutation SNP A A T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr8:25341608A>T ENST00000330560.3 + 10 1724 c.1247A>T c.(1246-1248)aAa>aTa p.K416I CDCA2_ENST00000380665.3_Missense_Mutation_p.K401I|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 416 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) CCATTGCGTAAAGGAGGAACA 0.438000 22 61 0 0 1 0 0 SMCP 4184 broad.mit.edu 37 1 152857072 152857072 + Silent SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:152857072C>T ENST00000368765.3 + 2 324 c.174C>T c.(172-174)tgC>tgT p.C58C NM_030663.2 NP_109588.2 P49901 MCSP_HUMAN sperm mitochondria-associated cysteine-rich protein 58 7 X 7 (OR 8) AA approximate repeats. penetration of zona pellucida|sperm motility mitochondrial membrane breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1) 8 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACAATCACTGCTGCCAGCCAA 0.537000 18 200 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368503 145368503 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:145368503G>C ENST00000342960.5 + 84 10516 c.10481G>C c.(10480-10482)tGt>tCt p.C3494S NBPF10_ENST00000369338.1_Missense_Mutation_p.C610S|NBPF10_ENST00000369339.2_Missense_Mutation_p.C612S NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3494 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) CTGGATAGATGTTATTCGACT 0.463000 10 663 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120480514 120480514 + Frame_Shift_Del DEL G G - TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:120480514delG ENST00000256646.2 - 20 3522 c.3303delC c.(3301-3303)ccfs p.P1101fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1101 EGF-like 29. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGAGACATTGGGCACGTCAC 0.498 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 14 60 --- --- --- --- SLC27A3 11000 broad.mit.edu 37 1 153748614 153748615 + Frame_Shift_Del DEL GC GC - TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:153748614_153748615delGC ENST00000271857.2 + 1 1785_1786 c.1025_1026delGC c.(1024-1026)gfs p.G342fs SLC27A3_ENST00000368661.3_Frame_Shift_Del_p.G261fs|SLC27A3_ENST00000484014.1_3'UTR Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 261 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CGCAGCTGCGGCGCGCGCGCGC 0.718 2 4 --- --- --- --- BRPF1 7862 broad.mit.edu 37 3 9783062 9783063 + Frame_Shift_Ins INS - - G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr3:9783062_9783063insG ENST00000383829.2 + 5 2197_2198 c.1793_1794insG c.(1792-1794)tgafs p.*598fs BRPF1_ENST00000302054.3_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000433861.2_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000457855.1_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000424362.1_Frame_Shift_Ins_p.*598fs NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 598 Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CGGCATGACTTGGAGCGAGCTC 0.510 50 87 --- --- --- --- NOL6 65083 broad.mit.edu 37 9 33465277 33465277 + Frame_Shift_Del DEL C C - TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr9:33465277delC ENST00000379471.2 - 20 2696 c.2609delG c.(2608-2610)gtfs p.G870fs NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Frame_Shift_Del_p.G818fs Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 870 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) ATCAGCGAAACCCTCACCAAG 0.627 2 4 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89717695 89717696 + Frame_Shift_Ins INS - - T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr10:89717695_89717696insT ENST00000371953.3 + 7 2077_2078 c.720_721insT c.(718-723)tattgafs p.*241fs PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 241 C2 tensin-type. F -> S (in MCEPHAS). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.F241fs*1(1)|p.Y240*(1)|p.R234fs*9(1)|p.F241fs*17(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGTTCATGTACTTTGAGTTCCC 0.411 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 27 51 --- --- --- --- ADAM8 101 broad.mit.edu 37 10 135085058 135085058 + Frame_Shift_Del DEL C C - TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr10:135085058delC ENST00000445355.3 - 12 1308 c.1258delG c.(1258-1260)agfs p.E420fs ADAM8_ENST00000485491.2_Frame_Shift_Del_p.E381fs|ADAM8_ENST00000415217.3_Frame_Shift_Del_p.E420fs NM_001109.4 NP_001100.3 B4DVM6 B4DVM6_HUMAN ADAM metallopeptidase domain 8 381 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) TCGCACTGCTCCCCACGCTCC 0.682 2 4 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118343036 118343037 + Frame_Shift_Ins INS - - A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr11:118343036_118343037insA ENST00000534358.1 + 3 1185_1186 c.1162_1163insA c.(1162-1164)aaafs p.K388fs KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.K388fs|KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.K388fs NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AAAGAAAATTGAAAAAGAAGCA 0.431 13 81 --- --- --- --- RP11-812E19.9 0 broad.mit.edu 37 16 33647494 33647495 + Frame_Shift_Ins INS - - C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr16:33647494_33647495insC ENST00000558425.1 - 2 104_105 c.105_106insG c.(103-108)ggccctfs p.GP35fs AGTCTCAGGGACCCCCCAGGCT 0.564 44 68 --- --- --- --- BIK 638 broad.mit.edu 37 22 43523734 43523734 + Frame_Shift_Del DEL G G - TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr22:43523734delG ENST00000216115.2 + 3 256 c.193delG c.(193-195)ggfs p.G65fs NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 65 apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) GGCCTGCATCGGGGACGAGAT 0.677 2 4 --- --- --- ---