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 PCNXL4 64430 broad.mit.edu 37 14 60574526 60574526 + Missense_Mutation SNP T T G TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr14:60574526T>G ENST00000406854.1 + 2 724 c.170T>G c.(169-171)gTc>gGc p.V57G PCNXL4_ENST00000391611.2_Missense_Mutation_p.V57G|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V57G pecanex-like 4 (Drosophila) TGGGGTGGAGTCGGAACACTT 0.398000 4 46 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194081183 194081183 + Missense_Mutation SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr3:194081183C>T ENST00000347624.3 - 2 675 c.590G>A c.(589-591)gGc>gAc p.G197D LRRC15_ENST00000428839.1_Missense_Mutation_p.G203D|LRRC15_ENST00000439944.2_Missense_Mutation_p.G203D NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 197 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CTGGAGGTTGCCCAGGTGCTG 0.572000 68 112 0 0 1 0 0 SESN1 27244 broad.mit.edu 37 6 109322526 109322526 + Missense_Mutation SNP A A C TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr6:109322526A>C ENST00000436639.2 - 3 1256 c.511T>G c.(511-513)Tta>Gta p.L171V SESN1_ENST00000356644.7_Missense_Mutation_p.L112V|SESN1_ENST00000302071.2_Missense_Mutation_p.L46V NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 112 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) TGTAGGGGTAACGGCCCATCC 0.348000 9 22 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67074410 67074410 + Silent SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr11:67074410G>T ENST00000308127.4 + 4 619 c.441G>T c.(439-441)ctG>ctT p.L147L SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Silent_p.L147L|SSH3_ENST00000308298.7_Silent_p.L147L NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 147 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CGGTCCTCCTGGGCGTGGATT 0.632000 20 67 8.34094e-07 9.6796e-07 1 1 0 NNT 23530 broad.mit.edu 37 5 43645506 43645506 + Missense_Mutation SNP A A C TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr5:43645506A>C ENST00000264663.5 + 10 1559 c.1338A>C c.(1336-1338)caA>caC p.Q446H NNT_ENST00000512996.2_Missense_Mutation_p.Q315H|NNT_ENST00000344920.4_Missense_Mutation_p.Q446H NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 446 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) ATATTCCTCAAGGTGCCCCAG 0.403000 4 51 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56398015 56398015 + Silent SNP G G A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr16:56398015G>A ENST00000290649.5 - 13 1812 c.1602C>T c.(1600-1602)acC>acT p.T534T NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 534 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 GCACACGCTCGGTCTGGACAC 0.637000 9 13 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 59 0 0 1 0 0 CCDC94 55702 broad.mit.edu 37 19 4267640 4267640 + Missense_Mutation SNP A A G TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr19:4267640A>G ENST00000262962.7 + 7 796 c.728A>G c.(727-729)aAg>aGg p.K243R NM_018074.4 NP_060544.2 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 243 NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2) 7 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) CCCAAGAGGAAGGTGGAGGTC 0.682000 OREG0025164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 36 0 0 1 0 0 MYLIP 29116 broad.mit.edu 37 6 16146916 16146916 + Silent SNP T T A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr6:16146916T>A ENST00000349606.4 + 6 1233 c.729T>A c.(727-729)cgT>cgA p.R243R MYLIP_ENST00000356840.3_Silent_p.R424R Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 424 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) GCAGGTCGCGTGTGGAGCATG 0.532000 3 8 0 0 1 0 0 INPP4A 3631 broad.mit.edu 37 2 99182212 99182212 + Silent SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr2:99182212C>T ENST00000074304.5 + 21 2670 c.2277C>T c.(2275-2277)ccC>ccT p.P759P INPP4A_ENST00000545415.1_Silent_p.P720P|INPP4A_ENST00000523221.1_Silent_p.P759P|INPP4A_ENST00000409851.3_Silent_p.P754P|INPP4A_ENST00000409540.3_Silent_p.P720P|INPP4A_ENST00000409016.3_Silent_p.P720P|INPP4A_ENST00000409463.1_Silent_p.P88P NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 759 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 ACATGCTGCCCGTCATCACAG 0.483000 16 47 0 0 1 0 0 OR1K1 0 broad.mit.edu 37 9 125562551 125562551 + Missense_Mutation SNP C C G TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr9:125562551C>G ENST00000277309.2 + 1 182 c.150C>G c.(148-150)atC>atG p.I50M NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 TGGCTGCCATCCAGGCCAGTC 0.572000 7 44 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47455419 47455419 + Silent SNP G G A rs112830289 byFrequency TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr3:47455419G>A ENST00000265565.5 - 23 4177 c.3765C>T c.(3763-3765)aaC>aaT p.N1255N SCAP_ENST00000441517.2_Silent_p.N999N|SCAP_ENST00000545718.1_Silent_p.N862N NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 1255 Interaction with SREBF2 (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CAATGGCAGCGTTGTCCAGCA 0.592000 7 211 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13393391 13393391 + Silent SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr3:13393391C>T ENST00000254508.5 - 20 2905 c.2823G>A c.(2821-2823)agG>agA p.R941R NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 941 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TGGCGACACCCCTGGCCTCCT 0.532000 4 56 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117045527 117045527 + Missense_Mutation SNP A A G TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr6:117045527A>G ENST00000368564.1 + 10 1136 c.988A>G c.(988-990)Att>Gtt p.I330V KPNA5_ENST00000356348.1_Missense_Mutation_p.I330V O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 327 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) TGGTGATGATATTCAAACACA 0.279000 12 8 0 0 1 0 0 KRT7 3855 broad.mit.edu 37 12 52629059 52629059 + Missense_Mutation SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr12:52629059C>T ENST00000331817.5 + 2 628 c.445C>T c.(445-447)Cgg>Tgg p.R149W NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 149 Coil 1B.|Rod. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) TGCTGGCCTTCGGGGTCAGCT 0.612000 5 69 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39451252 39451252 + Splice_Site SNP A A G TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr13:39451252A>G ENST00000280481.7 + 21 8760 c.e21-1 NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTTTGGTTTTAGGTCAGTGAT 0.433000 6 71 0 0 1 0 0 TMEM205 374882 broad.mit.edu 37 19 11453691 11453691 + Silent SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr19:11453691G>T ENST00000354882.5 - 3 796 c.370C>A c.(370-372)Cga>Aga p.R124R TMEM205_ENST00000587948.1_Silent_p.R124R|TMEM205_ENST00000447337.1_Silent_p.R124R|TMEM205_ENST00000593256.2_Silent_p.R124R|TMEM205_ENST00000586590.1_Silent_p.R124R|TMEM205_ENST00000586218.1_Silent_p.R63R|TMEM205_ENST00000586956.1_Silent_p.R124R|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Silent_p.R124R|TMEM205_ENST00000588560.1_Silent_p.R124R Q6UW68 TM205_HUMAN transmembrane protein 205 124 integral to membrane endometrium(1)|lung(1) 2 CCCAGGCCTCGCTCCTTCTCC 0.647000 22 31 7.41877e-09 8.8274e-09 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 61 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 26026298 26026298 + Silent SNP G G A rs145190957 byFrequency TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr15:26026298G>A ENST00000356865.6 - 2 633 c.522C>T c.(520-522)aaC>aaT p.N174N NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 174 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGAAGATTTCGTTGCAGCGAA 0.498000 4 41 0 0 1 0 0 VHL 7428 broad.mit.edu 37 3 10191575 10191575 + Missense_Mutation SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr3:10191575G>T ENST00000256474.2 + 3 1408 c.568G>T c.(568-570)Gac>Tac p.D190Y VHL_ENST00000345392.2_Missense_Mutation_p.D149Y|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 190 anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.E189fs*12(2)|p.D190fs*12(1)|p.D187_N193del(1)|p.D190fs*>25(1)|p.Y185fs*11(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) AGATCTGGAAGACCACCCAAA 0.502000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 7 17 5.18039e-06 5.9385e-06 1 1 0 CFB 629 broad.mit.edu 37 6 31911054 31911054 + Silent SNP C C T rs138221333 byFrequency TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr6:31911054C>T ENST00000456570.1 + 8 1009 c.954C>T c.(952-954)aaC>aaT p.N318N C2_ENST00000469372.1_Silent_p.N225N|C2_ENST00000442278.2_Silent_p.N339N|C2_ENST00000452323.2_Silent_p.N257N|C2_ENST00000299367.5_Silent_p.N471N|CFB_ENST00000556679.1_Silent_p.N318N|CFB_ENST00000477310.1_Silent_p.N242N P00751 CFAB_HUMAN complement factor B 486 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TGTCAGCAAACGCCTCTGACC 0.577000 23 26 0 0 1 0 0 UBXN10 127733 broad.mit.edu 37 1 20517520 20517520 + Missense_Mutation SNP A A G TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr1:20517520A>G ENST00000375099.3 + 2 550 c.466A>G c.(466-468)Atg>Gtg p.M156V NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 156 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 GACGGGCACCATGAAGACAAG 0.527000 17 21 0 0 1 0 0 MMP26 56547 broad.mit.edu 37 11 5009509 5009509 + Missense_Mutation SNP C C A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr11:5009509C>A ENST00000380390.1 + 2 284 c.68C>A c.(67-69)gCt>gAt p.A23D MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.A23D Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 23 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) GTGCCCCCTGCTGCAGACCAT 0.488000 34 45 5.43694e-19 6.72463e-19 1 1 0 LRIG3 121227 broad.mit.edu 37 12 59281622 59281622 + Missense_Mutation SNP A A C TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr12:59281622A>C ENST00000320743.3 - 8 1326 c.1040T>G c.(1039-1041)gTc>gGc p.V347G LRIG3_ENST00000379141.4_Missense_Mutation_p.V287G NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 347 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) AATGTAGCTGACTCTGTTGTT 0.413000 T ROS1 NSCLC 18 32 0 0 1 0 0 KPNB1 3837 broad.mit.edu 37 17 45754426 45754426 + Missense_Mutation SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr17:45754426G>T ENST00000290158.4 + 17 2443 c.2036G>T c.(2035-2037)cGt>cTt p.R679L KPNB1_ENST00000540627.1_Missense_Mutation_p.R534L|KPNB1_ENST00000537679.1_Missense_Mutation_p.R463L|KPNB1_ENST00000535458.2_Missense_Mutation_p.R534L NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 679 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 GACTTGTGCCGTGCCCTGCAA 0.468000 4 57 0.150653 0.157349 1 1 0 VANGL2 57216 broad.mit.edu 37 1 160394001 160394001 + Silent SNP G G A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr1:160394001G>A ENST00000368061.2 + 7 1707 c.1233G>A c.(1231-1233)caG>caA p.Q411Q NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 411 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCACCAAGCAGCAGCCCTACC 0.592000 20 39 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47527619 47527619 + Nonsense_Mutation SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr4:47527619G>T ENST00000273859.3 + 5 1005 c.736G>T c.(736-738)Gaa>Taa p.E246* ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E246* NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 246 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GATAGAATGTGAAAGCCCAAA 0.363000 5 23 5.9392e-07 6.97856e-07 1 1 0 ARID3B 10620 broad.mit.edu 37 15 74883672 74883672 + Silent SNP T T C TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr15:74883672T>C ENST00000346246.5 + 6 1293 c.1062T>C c.(1060-1062)ctT>ctC p.L354L NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 354 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L354L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCCTGCCCTTCTCTCCCCAC 0.647000 5 83 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44564693 44564693 + Missense_Mutation SNP G G A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr19:44564693G>A ENST00000591793.1 + 5 514 c.431G>A c.(430-432)cGa>cAa p.R144Q ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Missense_Mutation_p.R34Q|ZNF223_ENST00000434772.3_Missense_Mutation_p.R34Q Q9UK11 ZN223_HUMAN zinc finger protein 223 34 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) AAGCTGTATCGAGATGTGATG 0.532000 45 109 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216462740 216462740 + Missense_Mutation SNP T T A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr1:216462740T>A ENST00000366943.2 - 11 2239 c.1853A>T c.(1852-1854)gAg>gTg p.E618V USH2A_ENST00000307340.3_Missense_Mutation_p.E618V|USH2A_ENST00000366942.3_Missense_Mutation_p.E618V O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 618 Laminin EGF-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTTGCACAGCTCACAGTTCCT 0.403000 HNSCC(13;0.011) 6 45 0 0 1 0 0 LEKR1 389170 broad.mit.edu 37 3 156746095 156746095 + Missense_Mutation SNP C C G TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr3:156746095C>G ENST00000470811.1 + 13 1995 c.660C>G c.(658-660)aaC>aaG p.N220K LEKR1_ENST00000356539.4_Missense_Mutation_p.N524K D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 105 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTTCAGAAAACTTGAGGAAGG 0.358000 11 13 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61525242 61525242 + Silent SNP G G A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr20:61525242G>A ENST00000266070.4 - 12 3202 c.2877C>T c.(2875-2877)acC>acT p.T959T DIDO1_ENST00000395340.1_Silent_p.T959T|DIDO1_ENST00000395335.2_Silent_p.T959T|DIDO1_ENST00000395343.1_Silent_p.T959T NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 959 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTGTGACGGTGGTGACCACCC 0.682000 21 31 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10602517 10602517 + Missense_Mutation SNP C C A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr19:10602517C>A ENST00000171111.5 - 3 1608 c.1061G>T c.(1060-1062)cGg>cTg p.R354L KEAP1_ENST00000393623.2_Missense_Mutation_p.R354L NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GTCCGCCAACCGGAGCCAGGT 0.706000 3 9 0.115264 0.12174 1 1 0 TRAIP 10293 broad.mit.edu 37 3 49881269 49881269 + Missense_Mutation SNP A A T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr3:49881269A>T ENST00000331456.2 - 5 486 c.373T>A c.(373-375)Ttg>Atg p.L125M TRAIP_ENST00000469027.1_Intron NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 125 cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCCTTGCCCAAGGCCTGCTGC 0.537000 30 64 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3142301 3142301 + Missense_Mutation SNP G G A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr16:3142301G>A ENST00000252463.2 - 2 335 c.248C>T c.(247-249)gCt>gTt p.A83V ZSCAN10_ENST00000572548.1_Intron|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Intron NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 83 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 ACTCTTGCCAGCATTACAACT 0.547000 15 48 0 0 1 0 0 SF3A1 10291 broad.mit.edu 37 22 30737773 30737773 + Missense_Mutation SNP C C A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr22:30737773C>A ENST00000439242.1 - 7 915 c.784G>T c.(784-786)Gtc>Ttc p.V262F SF3A1_ENST00000215793.7_Missense_Mutation_p.V327F NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 327 Poly-Glu. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 TCAGACTCGACCTCCATCTCA 0.562000 5 84 0.184627 0.190714 1 1 0 CKMT2 1160 broad.mit.edu 37 5 80554973 80554973 + Missense_Mutation SNP T T C TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr5:80554973T>C ENST00000424301.2 + 9 1152 c.914T>C c.(913-915)tTc>tCc p.F305S CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.F305S|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.F305S|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 305 Phosphagen kinase C-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) GGCTGGGAGTTCATGTGGAAT 0.473000 48 59 0 0 1 0 0 FAM86HP 0 broad.mit.edu 37 3 129821650 129821650 + RNA SNP G G A rs56088005 by1000genomes TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr3:129821650G>A ENST00000500074.2 - 0 495 GGTTGCGGACGGTAAAGGCCA 0.667000 5 77 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212502 62212502 + Missense_Mutation SNP G G A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr8:62212502G>A ENST00000519846.1 + 3 588 c.116G>A c.(115-117)cGc>cAc p.R39H CLVS1_ENST00000325897.4_Missense_Mutation_p.R39H|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 39 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GAGAAAGCTCGCCTGGAACTG 0.433000 12 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399093 179399093 + Silent SNP T T C TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr2:179399093T>C ENST00000589042.1 - 358 102473 c.102249A>G c.(102247-102249)aaA>aaG p.K34083K TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.K25018K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.K25143K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K32442K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Silent_p.K25210K|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.K31515K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32442 Ig-like 151. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTGATAACTTTAGTACTGA 0.473000 21 18 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53216897 53216897 + Missense_Mutation SNP G G A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr12:53216897G>A ENST00000330553.5 - 7 1304 c.1270C>T c.(1270-1272)Cgg>Tgg p.R424W NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 424 Coil 2.|Rod. keratin filament structural molecule activity p.R424W(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CGCAGCAGCCGTGTCAGGTCC 0.612000 16 81 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48691160 48691160 + Missense_Mutation SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr8:48691160C>T ENST00000314191.2 - 84 11766 c.11710G>A c.(11710-11712)Gcc>Acc p.A3904T PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3873T NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3905 PI3K/PI4K. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGAGAGCTGGCGAAGTGGGAG 0.572000 Non-homologous end-joining 7 11 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 29 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189859302 189859302 + Silent SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr2:189859302C>T ENST00000304636.3 + 19 1499 c.1329C>T c.(1327-1329)ccC>ccT p.P443P COL3A1_ENST00000317840.5_Silent_p.P443P NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 443 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AAGGAGAGCCCGGACCACGTG 0.398000 10 42 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46977705 46977705 + Missense_Mutation SNP T T A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr6:46977705T>A ENST00000371253.2 - 11 1681 c.1466A>T c.(1465-1467)aAc>aTc p.N489I GPR110_ENST00000283297.5_Missense_Mutation_p.N292I|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 489 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 GGGTAGAATGTTCCCCAGAGT 0.413000 12 17 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130284217 130284217 + Silent SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr3:130284217C>T ENST00000358511.6 + 3 1072 c.1041C>T c.(1039-1041)aaC>aaT p.N347N COL6A6_ENST00000453409.2_Silent_p.N347N NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 347 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CAGAAGACAACGTGACAAAAG 0.557000 14 165 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129168739 129168739 + Missense_Mutation SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr3:129168739G>T ENST00000296266.3 + 2 259 c.67G>T c.(67-69)Gat>Tat p.D23Y IFT122_ENST00000504021.1_Missense_Mutation_p.D23Y|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000507564.1_Missense_Mutation_p.D23Y|IFT122_ENST00000349441.2_Missense_Mutation_p.D23Y|IFT122_ENST00000348417.2_Missense_Mutation_p.D23Y|IFT122_ENST00000347300.2_Missense_Mutation_p.D23Y NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 23 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 ATTTAAGCCTGATGGAACTCA 0.408000 5 75 0.00116845 0.00126246 1 1 0 TCHH 7062 broad.mit.edu 37 1 152082220 152082220 + Missense_Mutation SNP G G C rs113946258 TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr1:152082220G>C ENST00000368804.1 - 2 3472 c.3473C>G c.(3472-3474)cCg>cGg p.P1158R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1158 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCTTCTCCGGTTCCTCTCT 0.592000 3 32 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617577 77617577 + Silent SNP C C A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr8:77617577C>A ENST00000521891.2 + 2 1702 c.1254C>A c.(1252-1254)acC>acA p.T418T ZFHX4_ENST00000518282.1_Silent_p.T418T|ZFHX4_ENST00000050961.6_Silent_p.T418T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.T418T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 418 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TAGTGAACACCCCAATTACCT 0.522000 HNSCC(33;0.089) 9 20 0.361761 0.365651 1 1 0 SPTBN2 6712 broad.mit.edu 37 11 66466498 66466498 + Missense_Mutation SNP G G A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr11:66466498G>A ENST00000533211.1 - 19 4163 c.3832C>T c.(3832-3834)Cgg>Tgg p.R1278W SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1278W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1278W O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1278 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TGCTGCTCCCGGTTGTCCCGA 0.537000 25 31 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132051761 132051761 + Silent SNP G G A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr8:132051761G>A ENST00000286355.5 - 1 2911 c.819C>T c.(817-819)taC>taT p.Y273Y ADCY8_ENST00000377928.3_Silent_p.Y273Y NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 273 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 membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TGAAGAGCACGTAGCCTATGC 0.672000 HNSCC(32;0.087) 13 45 0 0 1 0 0 CHRNA6 8973 broad.mit.edu 37 8 42611140 42611140 + Nonsense_Mutation SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr8:42611140G>T ENST00000276410.2 - 5 1557 c.1202C>A c.(1201-1203)tCa>tAa p.S401* CHRNA6_ENST00000534622.1_Nonsense_Mutation_p.S386* NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 401 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAGCTCATTTGATTTGTGACA 0.488000 21 26 3.5997e-14 4.39444e-14 1 1 0 KRT33A 3883 broad.mit.edu 37 17 39506782 39506782 + Missense_Mutation SNP C C G rs148752041 byFrequency TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr17:39506782C>G ENST00000007735.3 - 1 282 c.238G>C c.(238-240)Gac>Cac p.D80H NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 80 Coil 1A.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) TCCGCGTTGTCCCGCTCCAGC 0.597000 4 68 0 0 1 0 0 CLEC12B 387837 broad.mit.edu 37 12 10165411 10165411 + Missense_Mutation SNP G G A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr12:10165411G>A ENST00000396502.1 + 2 247 c.119G>A c.(118-120)cGt>cAt p.R40H CLEC12B_ENST00000338896.5_Missense_Mutation_p.R40H|CLEC1B_ENST00000428126.2_Intron NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 40 integral to membrane|plasma membrane receptor activity|sugar binding central_nervous_system(2)|large_intestine(2)|lung(5) 9 CCCATTTGGCGTCATGCTGCT 0.458000 14 32 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974168 49974168 + Missense_Mutation SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr11:49974168C>T ENST00000555099.1 + 1 226 c.194C>T c.(193-195)tCc>tTc p.S65F NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 GCCTATCTCTCCTTTATTGAT 0.428000 15 126 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662463 227662463 + Missense_Mutation SNP T T A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr2:227662463T>A ENST00000305123.4 - 1 2012 c.992A>T c.(991-993)gAc>gTc p.D331V NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 331 Ser-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GCCTTCGCCGTCACTGGAGGC 0.716000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 162 0 0 1 0 0 MSL2 55167 broad.mit.edu 37 3 135913890 135913890 + Silent SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr3:135913890G>T ENST00000309993.2 - 1 798 c.66C>A c.(64-66)ccC>ccA p.P22P NM_018133.3 NP_060603.2 Q9HCI7 MSL2_HUMAN male-specific lethal 2 homolog (Drosophila) 22 histone H4-K16 acetylation MSL complex zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 TGGGGTCTCCGGGGTCGTAGT 0.527000 70 131 2.10328e-26 2.63612e-26 1 1 0 MGAT5B 146664 broad.mit.edu 37 17 74922812 74922812 + Splice_Site SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr17:74922812C>T ENST00000569840.2 + 10 1865 c.1291_splice c.e10+1 p.P431_splice MGAT5B_ENST00000301618.4_Splice_Site_p.P431_splice|MGAT5B_ENST00000428789.2_Splice_Site_p.P442_splice NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 431 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GACCATGTTTCGTGAGTGCCC 0.622000 56 41 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803493 142803493 + RNA SNP T T C rs80149641 by1000genomes TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr1:142803493T>C ENST00000423385.1 - 0 1472 TGTACATTTATTATTGATTTA 0.323000 3 36 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160050845 160050845 + Silent SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr2:160050845C>T ENST00000263635.6 + 17 3057 c.2820C>T c.(2818-2820)tgC>tgT p.C940C TANC1_ENST00000454300.1_Silent_p.C834C NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 940 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CAATCCTGTGCGTCCAGTCTC 0.552000 12 27 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37657655 37657655 + Missense_Mutation SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr17:37657655C>T ENST00000447079.4 + 6 2605 c.2572C>T c.(2572-2574)Cgg>Tgg p.R858W CDK12_ENST00000430627.2_Missense_Mutation_p.R858W NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 858 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TTTCCTGCATCGGGATATTAA 0.363000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 19 17 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205027445 205027445 + Missense_Mutation SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr1:205027445G>T ENST00000331830.4 + 4 636 c.352G>T c.(352-354)Ggc>Tgc p.G118C NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 118 Ig-like C2-type 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAACCCAGTGGGCACCGTTGT 0.642000 3 39 6.4e-05 7.24819e-05 1 1 0 SPANXN1 494118 broad.mit.edu 37 X 144337212 144337212 + Missense_Mutation SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chrX:144337212G>T ENST00000370493.3 + 2 856 c.97G>T c.(97-99)Gac>Tac p.D33Y NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 33 endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) ACCAAACAGGGACTTAGCCCC 0.413000 5 26 0.014758 0.0157642 1 1 0 B4GALT6 9331 broad.mit.edu 37 18 29218612 29218612 + Nonsense_Mutation SNP C C A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr18:29218612C>A ENST00000306851.5 - 5 879 c.583G>T c.(583-585)Gaa>Taa p.E195* B4GALT6_ENST00000383131.3_Intron|B4GALT6_ENST00000237019.7_Nonsense_Mutation_p.E156* NM_004775.3 NP_004766.2 Q9UBX8 B4GT6_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 195 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1) 20 OV - Ovarian serous cystadenocarcinoma(10;0.00791) CTCACCTGTTCAATGACATAA 0.348000 18 43 2.4624e-09 2.9675e-09 1 1 0 ADAMTS4 9507 broad.mit.edu 37 1 161166338 161166338 + Silent SNP G G C rs143383079 by1000genomes TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr1:161166338G>C ENST00000367995.3 - 2 1391 c.966C>G c.(964-966)ccC>ccG p.P322P ADAMTS4_ENST00000367996.4_Intron O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 0 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GTGCTGACTGGGGCCTCACCT 0.557000 4 62 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208858 65208858 + Missense_Mutation SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr14:65208858C>T ENST00000247226.7 + 14 2763 c.2455C>T c.(2455-2457)Cgc>Tgc p.R819C PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R875C|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R380C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R408C NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 875 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CACTGAGGGGCGCAGCCCGGC 0.667000 12 16 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566999 4566999 + Silent SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr11:4566999C>T ENST00000360213.1 + 1 579 c.579C>T c.(577-579)ggC>ggT p.G193G NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGACATGTGGCGACAGCAGGG 0.512000 40 63 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153061 5153061 + Missense_Mutation SNP A A G TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr11:5153061A>G ENST00000307388.1 - 1 811 c.812T>C c.(811-813)aTa>aCa p.I271T NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) ATATGGTGGTATGTGTGAACC 0.408000 10 36 0 0 1 0 0 TMEM92 162461 broad.mit.edu 37 17 48356274 48356274 + Missense_Mutation SNP C C T rs143844371 TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr17:48356274C>T ENST00000300433.3 + 5 393 c.283C>T c.(283-285)Cgg>Tgg p.R95W TMEM92_ENST00000507382.1_Missense_Mutation_p.R95W|TMEM92_ENST00000511882.1_3'UTR NM_001168215.1 NP_001161687.1 Q6UXU6 TMM92_HUMAN transmembrane protein 92 95 Pro-rich. integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 7 AGTGGATTGCCGGGGGCCCCT 0.617000 18 27 0 0 1 0 0 SLC39A14 23516 broad.mit.edu 37 8 22275306 22275306 + Silent SNP G G A rs113562598 TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr8:22275306G>A ENST00000381237.1 + 8 1409 c.1290G>A c.(1288-1290)gcG>gcA p.A430A SLC39A14_ENST00000240095.6_Silent_p.A430A|SLC39A14_ENST00000359741.5_Silent_p.A430A|SLC39A14_ENST00000289952.5_Silent_p.A430A NM_001128431.2 NP_001121903.1 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 430 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) GGATTTTTGCGCTAGCTGGAG 0.512000 3 36 0 0 1 0 0 ZNF668 79759 broad.mit.edu 37 16 31072622 31072622 + Missense_Mutation SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr16:31072622G>T ENST00000538906.1 - 3 2411 c.1627C>A c.(1627-1629)Ccc>Acc p.P543T ZNF668_ENST00000535577.1_Missense_Mutation_p.P543T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P566T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P543T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P566T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P543T NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CAGGGGAAGGGCCGGAGCTCC 0.657000 44 39 6.07928e-31 7.72232e-31 1 1 0 VANGL2 57216 broad.mit.edu 37 1 160389317 160389317 + Missense_Mutation SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr1:160389317C>T ENST00000368061.2 + 4 1192 c.718C>T c.(718-720)Cgc>Tgc p.R240C VANGL2_ENST00000483408.1_3'UTR NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 240 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCTGGAGCTGCGCCAGCTCCA 0.657000 20 26 0 0 1 0 0 TMEM107 84314 broad.mit.edu 37 17 8079029 8079029 + Nonsense_Mutation SNP G G C rs8064449 by1000genomes TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr17:8079029G>C ENST00000532998.1 - 3 388 c.302C>G c.(301-303)tCa>tGa p.S101* TMEM107_ENST00000316425.5_Intron|TMEM107_ENST00000533070.1_Intron|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000437139.2_Intron Q6UX40 TM107_HUMAN transmembrane protein 107 0 integral to membrane large_intestine(1)|lung(4)|ovary(1) 6 AGGGAGTCCTGATAGAAGTGG 0.512000 3 36 0 0 1 0 0 CCDC94 55702 broad.mit.edu 37 19 4267641 4267641 + Missense_Mutation SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr19:4267641G>T ENST00000262962.7 + 7 797 c.729G>T c.(727-729)aaG>aaT p.K243N NM_018074.4 NP_060544.2 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 243 NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2) 7 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) CCAAGAGGAAGGTGGAGGTCT 0.682000 OREG0025164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 36 0.000602214 0.000658234 1 1 0 EPB41L2 2037 broad.mit.edu 37 6 131184804 131184804 + Missense_Mutation SNP C C T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr6:131184804C>T ENST00000337057.3 - 18 3065 c.2884G>A c.(2884-2886)Gga>Aga p.G962R EPB41L2_ENST00000368128.2_Missense_Mutation_p.G962R|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G704R|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G340R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G704R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G663R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G768R|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G630R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G630R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G809R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G83R|EPB41L2_ENST00000530757.1_Missense_Mutation_p.G158R NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 962 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TCTCCATCTCCTGTGATCACA 0.363000 7 23 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39451253 39451253 + Splice_Site SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr13:39451253G>T ENST00000280481.7 + 21 8760 c.e21-1 NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTTGGTTTTAGGTCAGTGATC 0.438000 6 71 0.217242 0.221965 1 1 0 AP5S1 55317 broad.mit.edu 37 20 3802913 3802913 + Missense_Mutation SNP G G A rs151265745 byFrequency TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr20:3802913G>A ENST00000379573.2 + 2 393 c.149G>A c.(148-150)cGg>cAg p.R50Q AP5S1_ENST00000246041.2_Missense_Mutation_p.R50Q|AP5S1_ENST00000379567.2_Missense_Mutation_p.R50Q NM_001204446.1|NM_018347.2 NP_001191375.1|NP_060817.1 Q9NUS5 CT029_HUMAN adaptor-related protein complex 5, sigma 1 subunit 50 double-strand break repair via homologous recombination protein binding AGGCTTCTCCGGAAGGAACAG 0.572000 29 19 0 0 1 0 0 NUDT12 83594 broad.mit.edu 37 5 102888022 102888022 + Frame_Shift_Del DEL T T - TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr5:102888022delT ENST00000230792.2 - 6 1270 c.1174delA c.(1174-1176)tgfs p.M392fs NUDT12_ENST00000507423.1_Frame_Shift_Del_p.M374fs NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 392 Nudix hydrolase. nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) GAGGAAGGCATTGGCCATGGT 0.423 12 22 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31270080 31270081 + RNA INS - - AAA rs112314315 TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr12:31270080_31270081insAAA ENST00000542490.1 - 0 52 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CGTTAAACTGGATCTCACTGGA 0.505 3 5 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37619348 37619349 + Frame_Shift_Ins INS - - T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc5e0ab-5177-49f7-8b17-e7782996202d 4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a g.chr17:37619348_37619349insT ENST00000447079.4 + 1 1057_1058 c.1024_1025insT c.(1024-1026)gagfs p.E342fs CDK12_ENST00000430627.2_Frame_Shift_Ins_p.E342fs NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 342 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CAAGCGGTCTCTGAGTCGGAGT 0.554 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 14 60 --- --- --- ---