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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut NRXN1 9378 broad.mit.edu 37 2 50779866 50779866 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:50779866A>T uc021vhh.1 - 7 2539 c.1618T>A c.(1618-1620)Ttc>Atc p.F540I NRXN1_uc002rxb.4_Missense_Mutation_p.F212I|NRXN1_uc021vhg.1_Missense_Mutation_p.F580I|NRXN1_uc021vhi.1_Missense_Mutation_p.F576I|NRXN1_uc021vhj.1_Missense_Mutation_p.F536I|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 540 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATAGCAAAGAAGTCCACCTTT 0.448000 73 27 0 0 0.007291 0 0 GLYATL2 219970 broad.mit.edu 37 11 58601914 58601914 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:58601914C>T uc001nnd.4 - 5 1004 c.873G>A c.(871-873)aaG>aaA p.K291K GLYATL2_uc009ymq.3_Silent_p.K291K NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA. 291 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) AACAATATTTCTTGGGGGTGC 0.363000 15 26 0 0 0.007291 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904938 73904938 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:73904938C>T uc011dyh.2 + 14 3004 c.2657C>T c.(2656-2658)tCc>tTc p.S886F KCNQ5_uc011dyi.2_Missense_Mutation_p.S877F|KCNQ5_uc010kat.3_Missense_Mutation_p.S858F|KCNQ5_uc003pgk.3_Missense_Mutation_p.S867F|KCNQ5_uc011dyj.2_Missense_Mutation_p.S757F|KCNQ5_uc011dyk.2_Missense_Mutation_p.S617F NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 867 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TGGAGGGAATCCAAATTGTTT 0.498000 10 22 0 0 0.012319 0 0 NR1H4 9971 broad.mit.edu 37 12 100934464 100934464 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:100934464G>A uc001tht.2 + 6 1004 c.976G>A c.(976-978)Gac>Aac p.D326N NR1H4_uc001thq.2_Missense_Mutation_p.D316N|NR1H4_uc001thp.2_Missense_Mutation_p.D312N|NR1H4_uc001thr.2_Missense_Mutation_p.D316N|NR1H4_uc010svk.2_Missense_Mutation_p.D265N|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.D322N NM_001206993 NP_001193922 Q96RI1 NR1H4_HUMAN Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA. 326 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 TCAGACTTTGGACCATGAAGA 0.383000 45 24 0 0 0.006320 0 0 PDS5B 23047 broad.mit.edu 37 13 33344523 33344523 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:33344523C>T uc010abf.3 + 31 4075 c.3889C>T c.(3889-3891)Ctt>Ttt p.L1297F PDS5B_uc010abg.3_Non-coding_Transcript NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA. 1297 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) ACCAAAACCTCTTGGTGGAGG 0.423000 20 14 0 0 0.003163 0 0 POLQ 10721 broad.mit.edu 37 3 121207613 121207613 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:121207613G>A uc003eee.4 - 15 4294 c.4165C>T c.(4165-4167)Cat>Tat p.H1389Y POLQ_uc003eed.3_Missense_Mutation_p.H561Y NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 1389 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AGGTCCAAATGATCTATCTTA 0.428000 DNA polymerases (catalytic subunits) 32 22 0 0 0.012319 0 0 OR2M4 26245 broad.mit.edu 37 1 248402326 248402327 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:248402326_248402327GG>AA uc010pzh.2 + 0 96_97 c.96_97GG>AA c.(94-99)ctgggc>ctAAgc p.G33S NM_017504 NP_059974 Q96R27 OR2M4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA. 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTCTGGTCCTGGGCATCTTCTC 0.480000 178 50 0 0 0.004672 0 0 LOC442132 442132 broad.mit.edu 37 5 7303889 7303889 + RNA SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:7303889C>T uc003jdy.2 - 4 c.465G>A Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA. GCACTGTTTCCAGTTCAGTTT 0.488000 12 11 0 0 0.008291 0 0 SCD5 79966 broad.mit.edu 37 4 83552506 83552506 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:83552506C>T uc003hna.2 - 4 1287 c.967G>A c.(967-969)Gcc>Acc p.A323T NM_001037582 NP_001032671 Q86SK9 SCD5_HUMAN Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA. 323 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) CCAGTCCTGGCCTTCCGGGCC 0.532000 14 18 0 0 0.010504 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296431 39296431 + Silent SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:39296431A>G uc010cxk.2 - 0 309 c.309T>C c.(307-309)acT>acC p.T103T NM_030976 NP_112238 Q9BYQ5 KRA46_HUMAN Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA. 99 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GACGGCAGCAAGTGGGCTGGC 0.652000 43 4 0 0 0.001984 0 0 USP32 84669 broad.mit.edu 37 17 58300851 58300851 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:58300851C>T uc002iyo.1 - 13 1815 c.1529G>A c.(1528-1530)gGg>gAg p.G510E USP32_uc002iyn.1_Missense_Mutation_p.G180E NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA. 510 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) CAAAATATTCCCATTGGCTCC 0.408000 101 29 0 0 0.009535 0 0 EFNB3 1949 broad.mit.edu 37 17 7611453 7611453 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:7611453C>T uc002gis.3 + 1 697 c.300C>T c.(298-300)ctC>ctT p.L100L NM_001406 NP_001397 Q15768 EFNB3_HUMAN Homo sapiens ephrin-B3 (EFNB3), mRNA. 100 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) CCCCAAACCTCCTTCTCACTT 0.592000 82 52 0 0 0.014410 0 0 ZNF251 90987 broad.mit.edu 37 8 145948623 145948623 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:145948623C>T uc003zdv.4 - 4 678 c.422G>A c.(421-423)gGc>gAc p.G141D NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN Homo sapiens zinc finger protein 251 (ZNF251), mRNA. 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TTTGAGTTTGCCCTCACGGCC 0.468000 38 18 0 0 0.008871 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43821132 43821132 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:43821132C>T uc010skx.2 - 26 4086 c.4086G>A c.(4084-4086)tgG>tgA p.W1362* ADAMTS20_uc001rno.1_Nonsense_Mutation_p.W480* NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1362 TSP type-1 10. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTCCGTAGTTCCACTGTGGAC 0.423000 37 21 0 0 0.003954 0 0 ZNF132 7691 broad.mit.edu 37 19 58946315 58946315 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:58946315C>T uc002qst.4 - 2 897 c.496G>A c.(496-498)Gga>Aga p.G166R NM_003433 NP_003424 P52740 ZN132_HUMAN Homo sapiens zinc finger protein 132 (ZNF132), mRNA. 166 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GGCTTCCCTCCACTGTGCTCC 0.512000 64 42 0 0 0.013114 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10866671 10866672 + Missense_Mutation DNP GG AT AT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:10866671_10866672GG>AT uc002ras.3 + 2 282_283 c.173_174GG>AT c.(172-174)ggg>gAT p.G58D ATP6V1C2_uc002rat.3_Missense_Mutation_p.G58D NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA. 58 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain p.G58W(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GATGAGTTGGGGAAACTCGACA 0.450000 29 16 0 0 0.004672 0 0 OR51A7 119687 broad.mit.edu 37 11 4928900 4928900 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:4928900G>A uc010qyq.2 + 0 301 c.301G>A c.(301-303)Gaa>Aaa p.E101K NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA. 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTTGCTCAAGAATTCTTCAT 0.443000 51 46 0 0 0.014410 0 0 PLEC 5339 broad.mit.edu 37 8 144995304 144995304 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:144995304G>A uc003zaf.1 - 31 9266 c.9096C>T c.(9094-9096)gtC>gtT p.V3032V PLEC_uc003zab.1_Silent_p.V2895V|PLEC_uc003zac.1_Silent_p.V2899V|PLEC_uc003zad.2_Silent_p.V2895V|PLEC_uc003zae.1_Silent_p.V2863V|PLEC_uc003zag.1_Silent_p.V2873V|PLEC_uc003zah.2_Silent_p.V2881V|PLEC_uc003zaj.2_Silent_p.V2922V NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 3032 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGTCAGTGTAGACCAGCTCCC 0.627000 50 31 0 0 0.009535 0 0 NNMT 4837 broad.mit.edu 37 11 114168756 114168756 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:114168756G>A uc001por.1 + 3 502 c.238G>A c.(238-240)Gag>Aag p.E80K NNMT_uc001pos.1_Missense_Mutation_p.E80K NM_006169 NP_006160 P40261 NNMT_HUMAN Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA. 80 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) ATCCTTTAAGGAGATCGTCGT 0.537000 17 31 0 0 0.013726 0 0 WIPF2 147179 broad.mit.edu 37 17 38416912 38416912 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:38416912C>T uc002hug.1 + 2 429 c.189C>T c.(187-189)atC>atT p.I63I WIPF2_uc010cwv.1_Silent_p.I63I|WIPF2_uc002huh.1_Intron|WIPF2_uc010cww.1_5'UTR|WIPF2_uc002hui.1_Silent_p.I63I|WIPF2_uc010cwx.1_Silent_p.I63I|WIPF2_uc010cwy.1_Silent_p.I63I NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA. 63 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 GTGCTCCCATCCTCGAGAGTG 0.517000 HNSCC(43;0.11) 19 19 0 0 0.012319 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76555131 76555131 + Silent SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:76555131T>C uc002fex.1 + 14 2608 c.2469T>C c.(2467-2469)ttT>ttC p.F823F CNTNAP4_uc002feu.1_Silent_p.F819F|CNTNAP4_uc002fev.1_Silent_p.F684F|CNTNAP4_uc010chb.1_Silent_p.F747F NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 820 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TATCTTTCTTTTTTAAGACAA 0.403000 101 88 0 0 0.014410 0 0 CAPN1 823 broad.mit.edu 37 11 64976830 64976830 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:64976830C>T uc009yqd.2 + 16 1963 c.1766C>T c.(1765-1767)tCg>tTg p.S589L CAPN1_uc001odf.2_Missense_Mutation_p.S589L|CAPN1_uc001odg.2_Missense_Mutation_p.S589L|CAPN1_uc010roa.2_Missense_Mutation_p.S330L NM_001198868 NP_001185797 P07384 CAN1_HUMAN Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA. 589 Domain IV.|EF-hand 2. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) AGCCTAGAGTCGTGCCGCAGC 0.547000 13 6 0 0 0.001984 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117787 117787 + RNA SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrGL000205.1:117787G>A uc002kgk.4 + 0 c.1165G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GGCCTTTGCAGGATGGGATCG 0.567000 68 10 0 0 0.006214 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056668 120056668 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:120056668G>A uc001ehv.1 + 3 667 c.522G>A c.(520-522)ctG>ctA p.L174L NM_000862 NP_000853 P14060 3BHS1_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA. 174 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GGTGGAATCTGAAAAACGGCG 0.517000 40 31 0 0 0.008361 0 0 ZNF91 7644 broad.mit.edu 37 19 23544818 23544818 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:23544818G>A uc002nre.3 - 3 1076 c.963C>T c.(961-963)ccC>ccT p.P321P ZNF91_uc010xrj.2_Silent_p.P289P NM_003430 NP_003421 Q05481 ZNF91_HUMAN Homo sapiens zinc finger protein 91 (ZNF91), mRNA. 321 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CACATTTGTAGGGTTTCTCTC 0.383000 39 36 0 0 0.005524 0 0 CFH 3075 broad.mit.edu 37 1 196695740 196695740 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:196695740C>T uc001gtj.4 + 12 2254 c.2014C>T c.(2014-2016)Caa>Taa p.Q672* CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 672 Sushi 11. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TAATAAAATTCAATGTGTTGA 0.299000 61 13 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179441663 179441663 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179441663C>T uc021vsy.1 - 272 61920 c.61695G>A c.(61693-61695)atG>atA p.M20565I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M14260I|TTN_uc021vta.1_Missense_Mutation_p.M14193I|TTN_uc021vtb.1_Missense_Mutation_p.M14068I|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21492 Fibronectin type-III 49. 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) ATCTGTCTACCATTTTGACAG 0.393000 115 88 0 0 0.014410 0 0 MYPN 84665 broad.mit.edu 37 10 69926297 69926297 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:69926297G>A uc001jnm.4 + 10 2032 c.1847G>A c.(1846-1848)gGt>gAt p.G616D MYPN_uc001jnl.1_Missense_Mutation_p.G616D|MYPN_uc001jnn.4_Missense_Mutation_p.G341D|MYPN_uc001jno.4_Missense_Mutation_p.G616D|MYPN_uc009xps.3_Missense_Mutation_p.G616D|MYPN_uc009xpt.3_Missense_Mutation_p.G616D|MYPN_uc010qit.2_Missense_Mutation_p.G322D|MYPN_uc010qiu.2_Non-coding_Transcript NM_032578 NP_115967 Q86TC9 MYPN_HUMAN Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA. 616 nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TCCGAGGCTGGTGTGGTGACC 0.567000 36 26 0 0 0.006320 0 0 TTF1 7270 broad.mit.edu 37 9 135275598 135275598 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:135275598G>A uc004cbl.3 - 2 1484 c.1415C>T c.(1414-1416)tCc>tTc p.S472F TTF1_uc004cbm.3_5'UTR|TTF1_uc011mcp.2_Non-coding_Transcript NM_007344 NP_031370 Q15361 TTF1_HUMAN Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA. 472 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TCTTATTTCGGAATCTTCAGC 0.413000 47 30 0 0 0.008361 0 0 NEO1 4756 broad.mit.edu 37 15 73468837 73468837 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:73468837C>T uc002avm.4 + 5 1301 c.1109C>T c.(1108-1110)cCa>cTa p.P370L NEO1_uc010ukx.2_Missense_Mutation_p.P370L|NEO1_uc010uky.2_Missense_Mutation_p.P370L|NEO1_uc002avn.4_Missense_Mutation_p.P370L|NEO1_uc010ukz.2_5'UTR NM_002499 NP_002490 Q92859 NEO1_HUMAN Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA. 370 Ig-like C2-type 4. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 AAACCAACTCCAACTGTGAAG 0.343000 36 30 0 0 0.007291 0 0 ATP2B1 490 broad.mit.edu 37 12 90018083 90018083 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:90018083C>T uc001tbh.3 - 7 1402 c.1221G>A c.(1219-1221)gaG>gaA p.E407E ATP2B1_uc001tbg.3_Silent_p.E407E|ATP2B1_uc001tbf.3_Silent_p.E77E NM_001682 NP_001673 P20020 AT2B1_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA. 407 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 TTGGTGTGCACTCAGCAAGCC 0.398000 31 15 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179629430 179629430 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179629430G>A uc021vsy.1 - 41 10037 c.9812C>T c.(9811-9813)tCc>tTc p.S3271F TTN_uc021vsz.1_Missense_Mutation_p.S3225F|TTN_uc021vta.1_Missense_Mutation_p.S3225F|TTN_uc021vtb.1_Missense_Mutation_p.S3225F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.S3271F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 3271 Ig-like 19. 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) CTTGTACCAGGAAATTTTGGG 0.527000 74 51 0 0 0.014410 0 0 RYR3 6263 broad.mit.edu 37 15 33962662 33962662 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:33962662C>T uc001zhi.3 + 37 5835 c.5765C>T c.(5764-5766)tCc>tTc p.S1922F RYR3_uc010bar.3_Missense_Mutation_p.S1922F NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 1922 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) gaggaCACCTCCTGGACAGGA 0.522000 32 21 0 0 0.008871 0 0 ACSL5 51703 broad.mit.edu 37 10 114177604 114177604 + Splice_Site SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:114177604G>A uc001kzu.3 + 14 1499 c.1387_splice c.e14-1 p.D463_splice ACSL5_uc001kzs.3_Splice_Site_p.D407_splice|ACSL5_uc001kzt.3_Splice_Site_p.D407_splice|ACSL5_uc009xxz.3_Splice_Site_p.D407_splice|ACSL5_uc010qrj.2_Splice_Site_p.D189_splice NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 407 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CACTGAACAGGACAGCCTGGG 0.483000 69 41 0 0 0.010771 0 0 RB1 5925 broad.mit.edu 37 13 48953759 48953760 + Nonsense_Mutation DNP CC TT TT rs121913302 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:48953759_48953760CC>TT uc001vcb.3 + 13 1528_1529 c.1362_1363CC>TT c.(1360-1365)taccga>taTTga p.R455* NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 455 Domain A.|Pocket; binds T and E1A. G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation PML body|Rb-E2F complex|SWI/SNF complex|chromatin DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.R455*(14)|p.?(8)|p.Y454*(2) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTTGTATTACCGAGTAATGGA 0.356000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 6 5 0 0 0.004672 0 0 C15orf2 23742 broad.mit.edu 37 15 24924035 24924035 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:24924035G>A uc001ywo.3 + 0 3495 c.3021G>A c.(3019-3021)gtG>gtA p.V1007V NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 1007 cell differentiation|multicellular organismal development|spermatogenesis p.Q1006Q(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GCCCACAAGTGATTATGGGAC 0.512000 22 9 0 0 0.006214 0 0 CLPTM1 1209 broad.mit.edu 37 19 45490615 45490616 + Missense_Mutation DNP GT AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:45490615_45490616GT>AA uc002pai.3 + 7 1026_1027 c.972_973GT>AA c.(970-975)aagtcg>aaAAcg p.S325T CLPTM1_uc010ejv.1_Missense_Mutation_p.S223T|CLPTM1_uc010xxf.2_Missense_Mutation_p.S223T|CLPTM1_uc010xxg.2_Missense_Mutation_p.S311T NM_001294 NP_001285 O96005 CLPT1_HUMAN Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA. 325 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) AGAGCACCAAGTCGCCCTGGAA 0.634000 124 75 0 0 0.004672 0 0 ZNF778 197320 broad.mit.edu 37 16 89294965 89294965 + Missense_Mutation SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:89294965T>A uc021tms.1 + 6 2608 c.2269T>A c.(2269-2271)Ttc>Atc p.F757I ZNF778_uc010vpg.2_Missense_Mutation_p.F492I|ZNF778_uc002fmv.3_Missense_Mutation_p.F729I|ZNF778_uc002fmw.2_Missense_Mutation_p.F687I NM_001201407 NP_001188336 Q96MU6 ZN778_HUMAN Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA. 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) TGAGAAACCTTTCTAATGTAA 0.408000 27 31 0 0 0.003271 0 0 MAST3 23031 broad.mit.edu 37 19 18248077 18248077 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:18248077C>T uc002nhz.4 + 17 1914 c.1914C>T c.(1912-1914)ccC>ccT p.P638P NM_015016 NP_055831 O60307 MAST3_HUMAN Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA. 638 Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 AGCAGCACCCCTTTTTCCTGG 0.617000 41 25 0 0 0.003330 0 0 UGT1A1 54658 broad.mit.edu 37 2 234590615 234590615 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:234590615C>T uc002vut.3 + 0 32 c.32C>T c.(31-33)cCc>cTc p.P11L UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.P11L NM_019077 NP_061950 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA. 14 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GGCCTCCTTCCCCTATATGTG 0.542000 OREG0003832 type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 76 49 0 0 0.014410 0 0 MYH3 4621 broad.mit.edu 37 17 10558265 10558265 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:10558265G>A uc002gmq.2 - 2 205 c.117C>T c.(115-117)ttC>ttT p.F39F NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 39 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity p.F39F(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 AGTCCACCACGAAGCAATACG 0.493000 105 80 0 0 0.014410 0 0 TACR3 6870 broad.mit.edu 37 4 104579504 104579504 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:104579504A>T uc003hxe.1 - 1 746 c.605T>A c.(604-606)aTt>aAt p.I202N NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 202 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TCCAATGACAATCTTGGTTGC 0.378000 20 29 0 0 0.007291 0 0 RPS6KB2 6199 broad.mit.edu 37 11 67200855 67200855 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:67200855C>T uc001old.3 + 9 925 c.843C>T c.(841-843)atC>atT p.I281I RPS6KB2_uc021qmi.1_Silent_p.I4I NM_003952 NP_003943 Q9UBS0 KS6B2_HUMAN Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA. 281 Protein kinase. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2) 25 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) TGGATAAGATCATCAGGGGCA 0.627000 69 50 0 0 0.014410 0 0 COL5A2 1290 broad.mit.edu 37 2 189931456 189931456 + Splice_Site SNP G A A rs145281966 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:189931456G>A uc002uqk.3 - 22 1730 c.1455_splice c.e22+1 p.P485_splice COL5A2_uc010frx.3_Intron NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 485 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AAACCTTACTGGTTCCCCTTT 0.348000 57 35 0 0 0.004878 0 0 PDE6B 5158 broad.mit.edu 37 4 651211 651211 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:651211C>T uc003gap.3 + 9 1382 c.1329C>T c.(1327-1329)aaC>aaT p.N443N PDE6B_uc003gao.4_Silent_p.N443N|PDE6B_uc011buy.2_Silent_p.N164N|BC020343_uc003gaq.1_5'Flank NM_000283 NP_001138764 P35913 PDE6B_HUMAN Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA. 443 GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 AGCTGGAGAACCGCAAGGACA 0.597000 28 14 0 0 0.002450 0 0 UNK 85451 broad.mit.edu 37 17 73812881 73812881 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:73812881C>T uc002jpm.3 + 8 1220 c.1220C>T c.(1219-1221)tCc>tTc p.S407F UNK_uc021udd.1_Missense_Mutation_p.S331F NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA. 331 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGCAGCCTTCCTCAGCTGTG 0.662000 24 11 0 0 0.001855 0 0 RIF1 55183 broad.mit.edu 37 2 152319619 152319619 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:152319619C>T uc002txm.3 + 29 3746 c.3585C>T c.(3583-3585)ttC>ttT p.F1195F RIF1_uc002txn.3_Silent_p.F1195F|RIF1_uc002txl.3_Silent_p.F1195F|RIF1_uc002txo.3_Silent_p.F1195F|RIF1_uc002txp.3_Non-coding_Transcript NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA. 1195 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AAAATTCTTTCGTTGTCAGCA 0.368000 39 22 0 0 0.014323 0 0 FNBP1 23048 broad.mit.edu 37 9 132662284 132662284 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:132662284G>A uc004byw.1 - 14 1866 c.1647C>T c.(1645-1647)ctC>ctT p.L549L FNBP1_uc011mbv.1_Silent_p.L539L|FNBP1_uc011mbw.1_Silent_p.L544L|FNBP1_uc004bza.2_Silent_p.L483L|FNBP1_uc004byz.1_Silent_p.L520L|FNBP1_uc011mbu.1_Silent_p.L177L|FNBP1_uc004byx.1_Silent_p.L465L|FNBP1_uc004byy.1_Silent_p.L455L NM_015033 NP_055848 Q96RU3 FNBP1_HUMAN Homo sapiens formin binding protein 1 (FNBP1), mRNA. 549 Interaction with DNM1 and DNM3.|Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) CTATGGCAGGGAGGGGCTCCT 0.493000 T MLL AML 65 46 0 0 0.014410 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64619277 64619277 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:64619277C>T uc003dmg.3 - 13 2078 c.2046G>A c.(2044-2046)atG>atA p.M682I ADAMTS9_uc011bfo.2_Missense_Mutation_p.M654I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.M511I|ADAMTS9_uc003dmk.1_Missense_Mutation_p.M682I NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 682 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACCGGTCCTTCATCAGAACTA 0.512000 252 186 0 0 0.014410 0 0 ZNF585A 199704 broad.mit.edu 37 19 37642536 37642536 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:37642536G>A uc002ofo.1 - 4 2496 c.2265C>T c.(2263-2265)ttC>ttT p.F755F ZNF585A_uc002ofm.1_Silent_p.F700F|ZNF585A_uc002ofn.1_Silent_p.F700F NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA. 755 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTTCTGAACGAAGCCTTTCC 0.488000 56 34 0 0 0.010771 0 0 AKAP13 11214 broad.mit.edu 37 15 86076862 86076862 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:86076862G>A uc002blv.1 + 3 399 c.229G>A c.(229-231)Gag>Aag p.E77K AKAP13_uc002bls.3_Missense_Mutation_p.E77K|AKAP13_uc002blt.1_Missense_Mutation_p.E77K|AKAP13_uc002blu.1_Missense_Mutation_p.E77K NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 77 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TGCTTCCAAAGAGGGCCTTCC 0.458000 43 34 0 0 0.004289 0 0 PTGS1 5742 broad.mit.edu 37 9 125152476 125152476 + Splice_Site SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:125152476G>A uc004bmg.1 + 10 1432 c.1297_splice c.e10-1 p.I433_splice PTGS1_uc011lys.1_Splice_Site_p.I371_splice|PTGS1_uc010mwb.1_Splice_Site_p.I287_splice|PTGS1_uc004bmf.1_Splice_Site_p.I396_splice|PTGS1_uc004bmh.1_Splice_Site_p.I324_splice|PTGS1_uc011lyt.1_Splice_Site_p.I324_splice NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 433 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154) TCTCTCGGCAGATCGGTGGGG 0.602000 22 19 0 0 0.006122 0 0 RAI1 10743 broad.mit.edu 37 17 17698096 17698096 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:17698096C>T uc002grm.3 + 2 2303 c.1834C>T c.(1834-1836)Ctg>Ttg p.L612L RAI1_uc002grn.1_Silent_p.L612L NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 612 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CTCCGAGATCCTGGGGCTGCA 0.647000 26 26 0 0 0.003330 0 0 CD4 920 broad.mit.edu 37 12 6928051 6928051 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:6928051C>T uc001qqv.2 + 8 1575 c.1317C>T c.(1315-1317)ctC>ctT p.L439L CD4_uc010sfj.2_Silent_p.L166L|CD4_uc009zfc.2_Silent_p.L260L|CD4_uc010sfl.2_Silent_p.L166L|CD4_uc010sfk.2_Silent_p.L166L|CD4_uc010sfm.1_Silent_p.L166L|GPR162_uc010sfn.1_5'Flank|GPR162_uc001qqw.1_5'Flank|GPR162_uc001qqx.1_5'Flank|GPR162_uc009zfd.1_5'Flank NM_000616 NP_000607 P01730 CD4_HUMAN Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA. 439 HIV-1 Vpu-susceptibility domain. T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) AGAGACTCCTCAGTGAGAAGA 0.602000 18 20 0 0 0.012319 0 0 DOCK7 85440 broad.mit.edu 37 1 63084515 63084515 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:63084515G>A uc001daq.3 - 13 1578 c.1544C>T c.(1543-1545)cCc>cTc p.P515L DOCK7_uc001dan.3_Missense_Mutation_p.P407L|DOCK7_uc001dao.3_Missense_Mutation_p.P407L|DOCK7_uc001dap.3_Missense_Mutation_p.P515L|DOCK7_uc009wah.1_Missense_Mutation_p.P515L NM_033407 NP_212132 Q96N67 DOCK7_HUMAN Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA. 515 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 TTCAGGTGCGGGAGAAATGTC 0.373000 85 57 0 0 0.014410 0 0 SYDE2 84144 broad.mit.edu 37 1 85648237 85648237 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:85648237C>T uc009wcm.3 - 2 2137 c.2088G>A c.(2086-2088)cgG>cgA p.R696R SYDE2_uc001dku.4_Silent_p.R696R NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA. 696 C2. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) TTGAATCTATCCGAGGTGGTT 0.388000 29 23 0 0 0.002780 0 0 SCRN1 9805 broad.mit.edu 37 7 29980343 29980343 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:29980343G>A uc011kaa.2 - 4 803 c.754C>T c.(754-756)Cat>Tat p.H252Y SCRN1_uc011jzy.2_Missense_Mutation_p.H164Y|SCRN1_uc003tak.3_Missense_Mutation_p.H232Y|SCRN1_uc011jzz.2_Missense_Mutation_p.H232Y|SCRN1_uc011jzw.2_Intron|SCRN1_uc010kvp.3_Missense_Mutation_p.H232Y|SCRN1_uc011jzx.2_Missense_Mutation_p.H55Y NM_001145514 NP_001138986 Q12765 SCRN1_HUMAN Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA. 232 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 CAGTCTAGATGATCCTCAACT 0.498000 57 40 0 0 0.008740 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739113 15739113 + Splice_Site SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:15739113G>A uc002nbi.3 + 11 1177 c.1113_splice c.e11-1 p.W371_splice CYP4F8_uc010xoj.2_Splice_Site_p.W184_splice NM_007253 NP_009184 P98187 CP4F8_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA. 372 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TTTCCTTAGGGACGACCTGGC 0.602000 65 41 0 0 0.007835 0 0 STAT1 6772 broad.mit.edu 37 2 191872349 191872349 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:191872349G>A uc010fse.2 - 3 744 c.312C>T c.(310-312)atC>atT p.I104I STAT1_uc021vue.1_5'UTR|STAT1_uc002usj.2_Silent_p.I104I|STAT1_uc002usk.2_Silent_p.I104I|STAT1_uc002usl.2_Silent_p.I106I|STAT1_uc010fsf.1_5'UTR NM_007315 NP_009330 P42224 STAT1_HUMAN Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA. 104 I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) AGCTGTAAATGATCATAGACA 0.308000 52 23 0 0 0.005443 0 0 NEB 4703 broad.mit.edu 37 2 152550915 152550915 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:152550915C>T uc021vrb.1 - 17 1847 c.1818G>A c.(1816-1818)ggG>ggA p.G606G NEB_uc002txu.3_Silent_p.G606G|NEB_uc021vrc.1_Silent_p.G606G|NEB_uc010fnx.3_Silent_p.G606G|NEB_uc021vrd.1_Silent_p.G606G|NEB_uc010fny.2_Silent_p.G160G NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 606 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CAATCATTTTCCCTTTGTTTT 0.443000 88 72 0 0 0.014410 0 0 PPOX 5498 broad.mit.edu 37 1 161140536 161140536 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:161140536C>T uc001fyj.2 + 10 1515 c.1225C>T c.(1225-1227)Cac>Tac p.H409Y PPOX_uc001fyg.2_Missense_Mutation_p.H409Y|PPOX_uc010pkg.1_Missense_Mutation_p.H247Y|PPOX_uc001fyi.2_Missense_Mutation_p.H247Y|PPOX_uc010pkh.1_Missense_Mutation_p.H154Y NM_001122764 NP_001116236 P50336 PPOX_HUMAN Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 409 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GATGCCGAGCCACTGCTTGGT 0.507000 23 87 0 0 0.014410 0 0 GABRP 2568 broad.mit.edu 37 5 170235729 170235729 + Missense_Mutation SNP G A A rs139800251 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:170235729G>A uc003mau.3 + 7 1003 c.805G>A c.(805-807)Gat>Aat p.D269N GABRP_uc011dev.2_Missense_Mutation_p.D269N NM_014211 NP_055026 O00591 GBRP_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA. 269 cell junction|chloride channel complex|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GATCTCTCTCGATTCAGTCCC 0.423000 31 25 0 0 0.008361 0 0 abParts 0 broad.mit.edu 37 2 89976397 89976397 + RNA SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:89976397A>T uc010yts.2 + 10 c.1694A>T Parts of antibodies, mostly variable regions. ATTCAGCGGCAGTGGGTCAGG 0.512000 94 60 0 0 0.014410 0 0 CRB1 23418 broad.mit.edu 37 1 197446914 197446914 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:197446914C>T uc001gtz.3 + 11 4335 c.4126C>T c.(4126-4128)Cag>Tag p.Q1376* CRB1_uc010poz.2_Nonsense_Mutation_p.Q1352*|CRB1_uc009wza.3_Nonsense_Mutation_p.Q1264*|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Nonsense_Mutation_p.Q840*|CRB1_uc010ppd.2_Nonsense_Mutation_p.Q857* NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1376 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.Q1376Q(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AAGGGCAACTCAGGGAACCTA 0.527000 80 21 0 0 0.010504 0 0 TLR4 7099 broad.mit.edu 37 9 120475197 120475197 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:120475197G>A uc004bjz.3 + 2 1082 c.791G>A c.(790-792)aGa>aAa p.R264K TLR4_uc004bkb.3_Missense_Mutation_p.R64K|TLR4_uc004bka.3_Missense_Mutation_p.R224K NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 264 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GGAGAATTTAGAAATGAAGGA 0.358000 43 46 0 0 0.014410 0 0 SGCG 6445 broad.mit.edu 37 13 23869576 23869576 + Silent SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:23869576A>G uc001uom.2 + 5 683 c.528A>G c.(526-528)gaA>gaG p.E176E SGCG_uc009zzv.2_Silent_p.E176E|SGCG_uc009zzw.2_Silent_p.E176E NM_000231 NP_000222 Q13326 SGCG_HUMAN Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA. 176 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) CTCTTTTTGAACATTCAGTGG 0.388000 76 58 0 0 0.014410 0 0 HRH3 11255 broad.mit.edu 37 20 60791346 60791346 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:60791346G>A uc002yci.3 - 2 1351 c.1054C>T c.(1054-1056)Cgg>Tgg p.R352W HRH3_uc002ycf.2_Missense_Mutation_p.R352W|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron NM_007232 NP_009163 Q9Y5N1 HRH3_HUMAN Homo sapiens histamine receptor H3 (HRH3), mRNA. 352 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) TTCCTGTCCCGAGACAGCCGA 0.632000 15 10 0 0 0.010729 0 0 IKZF2 22807 broad.mit.edu 37 2 213872467 213872467 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:213872467G>A uc002vem.3 - 7 1367 c.1198C>T c.(1198-1200)Ccc>Tcc p.P400S IKZF2_uc010fuu.3_Missense_Mutation_p.P255S|IKZF2_uc002vej.3_Missense_Mutation_p.P347S|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.P326S|IKZF2_uc002vel.3_Missense_Mutation_p.P321S|IKZF2_uc010fuw.3_Missense_Mutation_p.P174S|IKZF2_uc010fux.3_Missense_Mutation_p.P174S|IKZF2_uc010fuy.3_Missense_Mutation_p.P328S|IKZF2_uc002ven.3_Missense_Mutation_p.P374S|IKZF2_uc002vei.3_Missense_Mutation_p.P178S NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CTATTGCTGGGAGAGGCCTCT 0.507000 72 54 0 0 0.014410 0 0 SH3RF2 153769 broad.mit.edu 37 5 145435702 145435702 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:145435702C>T uc003lnt.3 + 7 1719 c.1481C>T c.(1480-1482)cCc>cTc p.P494L SH3RF2_uc011dbl.1_Missense_Mutation_p.P494L|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 494 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATAGTCAACCCCGTGAGAAGC 0.567000 71 48 0 0 0.014410 0 0 AOX1 316 broad.mit.edu 37 2 201462197 201462197 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:201462197G>A uc002uvx.3 + 3 379 c.278G>A c.(277-279)gGa>gAa p.G93E NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 93 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GAAGGCATAGGAAGCACCCAC 0.478000 34 19 0 0 0.004656 0 0 NFE2 4778 broad.mit.edu 37 12 54686866 54686866 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:54686866G>A uc009znk.3 - 1 924 c.414C>T c.(412-414)ccC>ccT p.P138P NFE2_uc001sfq.3_Silent_p.P138P|NFE2_uc001sfr.4_Silent_p.P138P|NFE2_uc009znl.3_Silent_p.P138P NM_006163 NP_006154 Q16621 NFE2_HUMAN Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA. 138 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter PML body|actin cytoskeleton|cytoplasm WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 GGTCTTCTTGGGGCTTAGGTG 0.597000 62 33 0 0 0.003271 0 0 ELF3 1999 broad.mit.edu 37 1 201981877 201981877 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:201981877C>T uc001gxg.4 + 3 3780 c.588C>T c.(586-588)gtC>gtT p.V196V ELF3_uc001gxi.4_Silent_p.V196V|ELF3_uc001gxh.4_Silent_p.V196V NM_004433 NP_004424 P78545 ELF3_HUMAN Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA. 196 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GCTCTGACGTCTCCACCGCAG 0.662000 19 63 0 0 0.014410 0 0 ARL4A 10124 broad.mit.edu 37 7 12728093 12728093 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:12728093C>T uc003ssp.3 + 1 520 c.214C>T c.(214-216)Cac>Tac p.H72Y ARL4A_uc003ssq.3_Missense_Mutation_p.H72Y|ARL4A_uc021zzq.1_Missense_Mutation_p.H72Y|ARL4A_uc003sss.3_Missense_Mutation_p.H72Y|ARL4A_uc021zzr.1_Missense_Mutation_p.H72Y NM_001037164 NP_997625 P40617 ARL4A_HUMAN Homo sapiens ADP-ribosylation factor-like 4A (ARL4A), transcript variant 3, mRNA. 72 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding NS(2)|lung(3)|ovary(1) 6 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) AGTCACTTTTCACTTCTGGGA 0.398000 38 15 0 0 0.006122 0 0 CLCA2 9635 broad.mit.edu 37 1 86905990 86905990 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:86905990G>A uc001dlr.4 + 7 1525 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN Homo sapiens chloride channel accessory 2 (CLCA2), mRNA. 455 VWFA. cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity p.E454*(1) NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) AAATCTGGAGGAATTATCACG 0.398000 23 22 0 0 0.003330 0 0 HCRTR2 3062 broad.mit.edu 37 6 55145171 55145171 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:55145171G>A uc003pcl.3 + 5 1349 c.1034G>A c.(1033-1035)tGg>tAg p.W345* HCRTR2_uc010jzv.3_Non-coding_Transcript NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 345 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GTGTATGCCTGGTTTACCTTT 0.363000 127 31 0 0 0.004878 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306992 2306992 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:2306992A>T uc003gex.2 - 7 1395 c.1075T>A c.(1075-1077)Ttg>Atg p.L359M ZFYVE28_uc011bvk.2_Missense_Mutation_p.L289M|ZFYVE28_uc011bvl.2_Missense_Mutation_p.L329M|ZFYVE28_uc003gew.2_Missense_Mutation_p.L245M NM_020972 NP_001166130 Q9HCC9 LST2_HUMAN Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA. 359 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GGTGAAAGCAAAGAGGACATC 0.677000 29 16 0 0 0.003163 0 0 OR2G6 391211 broad.mit.edu 37 1 248684978 248684978 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:248684978G>A uc001ien.1 + 0 31 c.31G>A c.(31-33)Gga>Aga p.G11R NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G11E(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCTGAAAAGGGATTTCTTCT 0.418000 122 33 0 0 0.005524 0 0 TTN 7273 broad.mit.edu 37 2 179454889 179454889 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179454889C>T uc021vsy.1 - 252 54084 c.53859G>A c.(53857-53859)aaG>aaA p.K17953K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K11648K|TTN_uc021vta.1_Silent_p.K11581K|TTN_uc021vtb.1_Silent_p.K11456K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18880 Fibronectin type-III 30. 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) GGTCCACCCTCTTTTCTCGGA 0.438000 76 58 0 0 0.014410 0 0 UBR4 23352 broad.mit.edu 37 1 19464561 19464561 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:19464561C>T uc001bbi.3 - 59 8850 c.8846G>A c.(8845-8847)gGa>gAa p.G2949E UBR4_uc001bbk.1_Missense_Mutation_p.G596E NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 2949 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGAGCCATCTCCCTCCTGGTG 0.557000 20 15 0 0 0.002450 0 0 TMEM177 80775 broad.mit.edu 37 2 120438540 120438540 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:120438540C>T uc021vnk.1 + 0 111 c.111C>T c.(109-111)ttC>ttT p.F37F TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Silent_p.F37F|TMEM177_uc002tmc.1_Silent_p.F37F|TMEM177_uc002tmd.2_Silent_p.F37F|TMEM177_uc010flh.3_Silent_p.F37F NM_030577 NP_085054 Q53S58 TM177_HUMAN Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA. 37 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) ACCACCTCTTCCCGGATCCCG 0.612000 60 45 0 0 0.014410 0 0 SLC6A16 28968 broad.mit.edu 37 19 49793439 49793439 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:49793439C>T uc002pmz.3 - 11 2386 c.2152G>A c.(2152-2154)Gaa>Aaa p.E718K SLC6A16_uc002pna.3_3'UTR NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA. 718 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) AGAATTTCTTCCTTTTGAACC 0.438000 60 62 0 0 0.014410 0 0 SMYD4 114826 broad.mit.edu 37 17 1686396 1686396 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:1686396G>A uc002ftm.4 - 9 2362 c.2194C>T c.(2194-2196)Cgc>Tgc p.R732C SMYD4_uc002ftn.1_Missense_Mutation_p.R587C NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA. 732 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 GGCCCGTGGCGAACCTCCACC 0.512000 46 41 0 0 0.009718 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481855 142481855 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:142481855G>A uc011ksq.2 + 3 617 c.534G>A c.(532-534)aaG>aaA p.K178K TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. ACCCTTTAAAGATTACCAGCA 0.527000 71 53 0 0 0.014410 0 0 SPTA1 6708 broad.mit.edu 37 1 158639499 158639499 + Splice_Site SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:158639499C>T uc001fst.1 - 13 1876 c.1677_splice c.e13+1 p.G559_splice NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 559 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) TTGGACATACCCCGTCACGGA 0.438000 318 60 0 0 0.014410 0 0 FCRL5 83416 broad.mit.edu 37 1 157494225 157494225 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:157494225G>A uc009wsm.3 - 9 2241 c.2083C>T c.(2083-2085)Cat>Tat p.H695Y FCRL5_uc001fqu.3_Missense_Mutation_p.H695Y|FCRL5_uc010phv.1_Missense_Mutation_p.H695Y|FCRL5_uc010phw.1_Missense_Mutation_p.H610Y NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 695 Ig-like C2-type 7. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ACATCTTCATGATAAAACCAG 0.572000 107 21 0 0 0.014323 0 0 GLI2 2736 broad.mit.edu 37 2 121745787 121745787 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:121745787C>T uc010flp.3 + 12 2327 c.2297C>T c.(2296-2298)tCc>tTc p.S766F GLI2_uc002tmq.1_Missense_Mutation_p.S438F|GLI2_uc002tmr.1_Missense_Mutation_p.S421F|GLI2_uc002tmt.4_Missense_Mutation_p.S438F|GLI2_uc002tmu.4_Missense_Mutation_p.S421F NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 766 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCCGCAGGCTCCATCCTGGAA 0.682000 25 17 0 0 0.007413 0 0 NFKBIA 4792 broad.mit.edu 37 14 35872465 35872465 + Silent SNP G A A rs141298006 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:35872465G>A uc001wtf.4 - 2 548 c.438C>T c.(436-438)acC>acT p.T146T NM_020529 NP_065390 P25963 IKBA_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA. 146 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) GGTGTAGGGGGGTATTTCCTC 0.597000 75 34 0 0 0.004878 0 0 HRASLS 57110 broad.mit.edu 37 3 192973511 192973511 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:192973511C>T uc003fta.3 + 1 477 c.72C>T c.(70-72)ttC>ttT p.F24F NM_020386 NP_065119 Q9HDD0 HRSL1_HUMAN Homo sapiens HRAS-like suppressor (HRASLS), mRNA. 24 breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) TCGAAGTGTTCCGTCCTGGCT 0.493000 64 58 0 0 0.014410 0 0 PALM 5064 broad.mit.edu 37 19 746457 746458 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:746457_746458CC>TT uc002lpm.1 + 8 1001_1002 c.807_808CC>TT c.(805-810)tcccgg>tcTTgg p.R270W PALM_uc002lpn.1_Missense_Mutation_p.R226W|PALM_uc010xfu.1_Missense_Mutation_p.R135W NM_002579 NP_002570 O75781 PALM_HUMAN Homo sapiens paralemmin (PALM), transcript variant 1, mRNA. 270 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) CCACGCCCTCCCGGCGGGAGAT 0.733000 8 9 0 0 0.004672 0 0 PTGFR 5737 broad.mit.edu 37 1 78958579 78958579 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:78958579C>T uc001din.3 + 1 417 c.151C>T c.(151-153)Ctc>Ttc p.L51F PTGFR_uc001dim.3_Missense_Mutation_p.L51F NM_000959 NP_000950 P43088 PF2R_HUMAN Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA. 51 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CATCGCCATTCTCATGAAGGC 0.443000 66 39 0 0 0.006999 0 0 BCAS1 8537 broad.mit.edu 37 20 52645101 52645101 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:52645101G>A uc002xws.2 - 3 891 c.553C>T c.(553-555)Ccc>Tcc p.P185S BCAS1_uc010zzb.1_Missense_Mutation_p.P88S|BCAS1_uc010gim.2_Missense_Mutation_p.P88S|BCAS1_uc002xwt.2_Missense_Mutation_p.P185S|BCAS1_uc010gil.1_Missense_Mutation_p.P185S|BCAS1_uc010zzc.2_Missense_Mutation_p.P88S NM_003657 NP_003648 O75363 BCAS1_HUMAN Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA. 185 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GGCTTGGAGGGAGCTTCTCCT 0.592000 63 87 0 0 0.014410 0 0 PRTG 283659 broad.mit.edu 37 15 55974628 55974628 + Missense_Mutation SNP G A A rs143548115 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:55974628G>A uc002adg.3 - 3 658 c.610C>T c.(610-612)Cgt>Tgt p.R204C NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN Homo sapiens protogenin (PRTG), mRNA. 204 Ig-like 2. multicellular organismal development integral to membrane p.R204C(2) breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GCAATACAACGATAATTTCCA 0.423000 19 28 0 0 0.008361 0 0 STAT5A 6776 broad.mit.edu 37 17 40456591 40456592 + Missense_Mutation DNP CC TT TT rs150767426 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:40456591_40456592CC>TT uc002hzj.2 + 11 1943_1944 c.1301_1302CC>TT c.(1300-1302)tcc>tTT p.S434F STAT5A_uc010cya.2_Missense_Mutation_p.S434F|STAT5A_uc010cyb.2_Missense_Mutation_p.S434F|STAT5A_uc010cyc.2_Missense_Mutation_p.S404F|STAT5A_uc010cyd.1_5'Flank|STAT5A_uc010cye.1_5'Flank NM_003152 NP_003143 P42229 STA5A_HUMAN Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA. 434 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) GGTGCAGAGTCCGTGACAGAGG 0.579000 43 17 0 0 0.004672 0 0 RXFP1 59350 broad.mit.edu 37 4 159514616 159514616 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:159514616C>T uc003ipz.3 + 2 514 c.251C>T c.(250-252)tCc>tTc p.S84F RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_Missense_Mutation_p.S3F|RXFP1_uc010iqo.3_Missense_Mutation_p.S84F|RXFP1_uc011cjb.2_Missense_Mutation_p.S3F|RXFP1_uc011cjc.2_Missense_Mutation_p.S3F|RXFP1_uc011cjd.2_Missense_Mutation_p.S3F|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Missense_Mutation_p.S84F|RXFP1_uc010iqm.3_Intron|RXFP1_uc011cjf.2_Intron|RXFP1_uc010iqn.3_Missense_Mutation_p.S3F NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 84 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AAAATGACTTCCCAATATCCT 0.323000 26 13 0 0 0.004007 0 0 SGCG 6445 broad.mit.edu 37 13 23777974 23777974 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:23777974C>T uc001uom.2 + 1 296 c.141C>T c.(139-141)ctC>ctT p.L47L SGCG_uc009zzv.2_Silent_p.L47L|SGCG_uc009zzw.2_Silent_p.L47L NM_000231 NP_000222 Q13326 SGCG_HUMAN Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA. 47 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) TCATCATCCTCGTTGTGAATT 0.368000 54 18 0 0 0.008871 0 0 QRICH2 84074 broad.mit.edu 37 17 74288700 74288700 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:74288700G>A uc002jrd.1 - 3 1790 c.1610C>T c.(1609-1611)cCt>cTt p.P537L QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN Homo sapiens glutamine rich 2 (QRICH2), mRNA. 537 Gln-rich. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 ATCTGCACCAGGTTGCACCAC 0.517000 80 41 0 0 0.009718 0 0 TLE4 7091 broad.mit.edu 37 9 82323515 82323515 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:82323515C>T uc004ald.3 + 13 2001 c.1152C>T c.(1150-1152)agC>agT p.S384S TLE4_uc004alc.3_Silent_p.S359S|TLE4_uc010mpr.3_Silent_p.S238S|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.S327S|TLE4_uc010mps.3_Silent_p.S283S|TLE4_uc004alf.3_Silent_p.S298S NM_007005 NP_008936 O60756 BCE1_HUMAN Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA. 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CAGCCTCAAGCCTAAGGACCC 0.468000 93 47 0 0 0.014410 0 0 LOC440040 440040 broad.mit.edu 37 11 49598041 49598041 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:49598041G>A uc010rhy.2 + 1 632 c.154G>A c.(154-156)Gac>Aac p.D52N LOC440040_uc009ymb.3_Missense_Mutation_p.D52N Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. GATCAATTCAGACCCCACACT 0.522000 7 3 0 0 0.004672 0 0 KRT33B 3884 broad.mit.edu 37 17 39525754 39525754 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:39525754C>T uc002hwl.3 - 0 294 c.249G>A c.(247-249)gaG>gaA p.E83E NM_002279 NP_002270 Q14525 KT33B_HUMAN Homo sapiens keratin 33B (KRT33B), mRNA. 83 Coil 1A.|Rod. intermediate filament protein binding|structural molecule activity p.A82A(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) GGTTCTCCAGCTCCGCGTTGT 0.607000 42 34 0 0 0.004289 0 0 ITGBL1 9358 broad.mit.edu 37 13 102344979 102344979 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:102344979C>T uc001vpb.3 + 7 1279 c.1060C>T c.(1060-1062)Cgc>Tgc p.R354C ITGBL1_uc010agb.3_Missense_Mutation_p.R305C|ITGBL1_uc001vpc.4_Missense_Mutation_p.R213C NM_004791 NP_004782 O95965 ITGBL_HUMAN Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA. 354 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity p.D353Y(1) breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCAGGAGATCGCCGGGTGTA 0.488000 61 39 0 0 0.004878 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303953 151303953 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:151303953G>A uc022cgz.1 - 0 140 c.140C>T c.(139-141)tCt>tTt p.S47F MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.S47F|MAGEA10_uc004ffm.2_Missense_Mutation_p.S47F|MAGEA10_uc004ffl.3_Missense_Mutation_p.S47F NM_021048 NP_066386 P43363 MAGAA_HUMAN Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA. 47 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ggatggaaaagaggagCTGGT 0.542000 3 26 0 0 0.003954 0 0 IQSEC3 440073 broad.mit.edu 37 12 278224 278224 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:278224C>T uc001qhw.2 + 11 3017 c.3017C>T c.(3016-3018)cCc>cTc p.P1006L IQSEC3_uc001qhu.1_Missense_Mutation_p.P703L NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 1006 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TCCTTCAAGCCCTGCGGAGCC 0.612000 50 34 0 0 0.005524 0 0 LMX1A 4009 broad.mit.edu 37 1 165218805 165218805 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:165218805C>T uc001gcz.2 - 3 530 c.336G>A c.(334-336)aaG>aaA p.K112K LMX1A_uc021pdz.1_Silent_p.K112K NM_001174069 NP_796372 Q8TE12 LMX1A_HUMAN Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA. 112 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) GGTATACACTCTTCTGGGCCC 0.547000 54 20 0 0 0.010504 0 0 TMEM119 338773 broad.mit.edu 37 12 108985566 108985566 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:108985566C>T uc001tng.3 - 1 757 c.594G>A c.(592-594)agG>agA p.R198R TMEM119_uc021rdl.1_Silent_p.R198R NM_181724 NP_859075 Q4V9L6 TM119_HUMAN Homo sapiens transmembrane protein 119 (TMEM119), mRNA. 198 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CCTCCACCATCCTGGCTCCGT 0.687000 21 18 0 0 0.007413 0 0 COL22A1 169044 broad.mit.edu 37 8 139701184 139701184 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:139701184C>T uc003yvd.3 - 36 3285 c.2838G>A c.(2836-2838)ggG>ggA p.G946G COL22A1_uc011ljo.2_Silent_p.G246G NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 946 Collagen-like 8.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCCATCTTTCCCTGGGGTGC 0.522000 HNSCC(7;0.00092) 55 42 0 0 0.008740 0 0 MTIF3 219402 broad.mit.edu 37 13 28014234 28014234 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:28014234G>A uc001urh.3 - 0 1576 c.352C>T c.(352-354)Caa>Taa p.Q118* MTIF3_uc021rhl.1_Nonsense_Mutation_p.Q118*|MTIF3_uc001uri.3_Nonsense_Mutation_p.Q118*|MTIF3_uc021rhm.1_Nonsense_Mutation_p.Q118*|MTIF3_uc001urj.3_Nonsense_Mutation_p.Q118*|MTIF3_uc001urk.3_Nonsense_Mutation_p.Q118* NM_152912 NP_690876 Q9H2K0 IF3M_HUMAN Homo sapiens mitochondrial translational initiation factor 3 (MTIF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 118 regulation of translational initiation|ribosome disassembly mitochondrion ribosomal small subunit binding|translation initiation factor activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157) GTGTTCCTTTGAACCAGTCGC 0.502000 45 27 0 0 0.005443 0 0 NLRP3 114548 broad.mit.edu 37 1 247588406 247588406 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:247588406C>T uc001icr.3 + 4 1799 c.1661C>T c.(1660-1662)cCc>cTc p.P554L NLRP3_uc001ics.3_Missense_Mutation_p.P554L|NLRP3_uc001icu.3_Missense_Mutation_p.P554L|NLRP3_uc001icw.3_Missense_Mutation_p.P554L|NLRP3_uc001icv.3_Missense_Mutation_p.P554L|NLRP3_uc010pyw.2_Missense_Mutation_p.P552L|NLRP3_uc001ict.1_Missense_Mutation_p.P552L NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 554 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TTGAAGCTTCCCAGCCGAGAC 0.478000 62 11 0 0 0.008291 0 0 LGSN 51557 broad.mit.edu 37 6 63995556 63995556 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:63995556C>T uc003peh.3 - 2 300 c.266G>A c.(265-267)cGa>cAa p.R89Q LGSN_uc003pei.3_Missense_Mutation_p.R89Q|LGSN_uc003pej.1_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 89 glutamine biosynthetic process glutamate-ammonia ligase activity p.R89*(1) NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TGCTTCAAATCGTACAAACTG 0.433000 503 19 0 0 0.007413 0 0 TEKT3 64518 broad.mit.edu 37 17 15212126 15212126 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:15212126C>T uc002gon.3 - 7 1298 c.1111G>A c.(1111-1113)Gag>Aag p.E371K NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN Homo sapiens tektin 3 (TEKT3), mRNA. 371 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TGGAAAATCTCCTGCAGGGTC 0.537000 45 31 0 0 0.003755 0 0 SF3B3 23450 broad.mit.edu 37 16 70562804 70562804 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:70562804C>T uc002ezf.3 + 2 310 c.99C>T c.(97-99)tcC>tcT p.S33S SNORD111B_uc010cfv.2_5'Flank NM_012426 NP_036558 Q15393 SF3B3_HUMAN Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA. 33 protein complex assembly U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TTGTTGTTTCCCGTGGGAAGA 0.478000 38 26 0 0 0.013726 0 0 UBR4 23352 broad.mit.edu 37 1 19499520 19499520 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:19499520G>A uc001bbi.3 - 24 3363 c.3359C>T c.(3358-3360)tCc>tTc p.S1120F UBR4_uc001bbm.1_Missense_Mutation_p.S331F NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 1120 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGTGTAGATGGACTGCAGACT 0.438000 35 19 0 0 0.014323 0 0 PLCG2 5336 broad.mit.edu 37 16 81944272 81944272 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:81944272C>T uc002fgt.3 + 17 2059 c.1881C>T c.(1879-1881)ttC>ttT p.F627F PLCG2_uc010chg.1_Silent_p.F627F NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 627 SH2 1. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GCGCCGAGTTCGAGCTGCGGC 0.632000 135 87 0 0 0.014410 0 0 CASP10 843 broad.mit.edu 37 2 202050821 202050821 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:202050821C>T uc002uxj.1 + 1 739 c.321C>T c.(319-321)ccC>ccT p.P107P CASP10_uc002uxi.1_Silent_p.P107P|CASP10_uc010zhn.1_Non-coding_Transcript|CASP10_uc010ftb.2_Silent_p.P107P|CASP10_uc010fta.1_Silent_p.P107P|CASP10_uc002uxk.1_Silent_p.P107P|CASP10_uc002uxl.2_Silent_p.P107P|CASP10_uc002uxm.2_Silent_p.P107P NM_032977 NP_116759 Q92851 CASPA_HUMAN Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA. 107 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 GACTGCTGCCCACCCGACAAA 0.522000 33 16 0 0 0.006122 0 0 LPO 4025 broad.mit.edu 37 17 56332270 56332270 + Missense_Mutation SNP C A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:56332270C>A uc002ivt.3 + 8 1520 c.1204C>A c.(1204-1206)Cct>Act p.P402T LPO_uc010wns.2_Missense_Mutation_p.P343T|LPO_uc010dcp.3_Missense_Mutation_p.P319T|LPO_uc010dcq.3_Missense_Mutation_p.P73T|LPO_uc010dcr.3_5'UTR NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. 402 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.P402H(1) breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GAGACTCAACCCTCAGTGGGA 0.572000 108 49 1.32667e-27 1.41683e-27 0.014410 1 0 KCTD6 200845 broad.mit.edu 37 3 58486826 58486826 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:58486826G>A uc003dkj.4 + 2 298 c.181G>A c.(181-183)Gat>Aat p.D61N KCTD6_uc003dkk.4_Missense_Mutation_p.D61N NM_001128214 NP_699162 Q8NC69 KCTD6_HUMAN Homo sapiens potassium channel tetramerisation domain containing 6 (KCTD6), transcript variant 2, mRNA. 61 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) TATTGATCGAGATGGACCTCT 0.458000 41 23 0 0 0.012319 0 0 OR4K15 81127 broad.mit.edu 37 14 20444710 20444710 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:20444710C>T uc010tkx.2 + 0 1033 c.1033C>T c.(1033-1035)Cta>Tta p.L345L NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA. 345 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTCTTTTCCTAGAAACAAA 0.388000 14 7 0 0 0.006214 0 0 HMGCS2 3158 broad.mit.edu 37 1 120307026 120307027 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:120307026_120307027CC>TT uc001eid.3 - 1 415_416 c.327_328GG>AA c.(325-330)gtggtg>gtAAtg p.V110M HMGCS2_uc010oxj.2_Missense_Mutation_p.V110M|HMGCS2_uc021osx.1_Missense_Mutation_p.V18M NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 110 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) AGCCGTTGCACCACCGTCAGGC 0.540000 411 235 0 0 0.004672 0 0 RGPD4 285190 broad.mit.edu 37 2 108488493 108488493 + Missense_Mutation SNP G C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:108488493G>C uc010ywk.2 + 19 4115 c.4033G>C c.(4033-4035)Gtt>Ctt p.V1345L RGPD4_uc002tdu.3_Missense_Mutation_p.V532L|RGPD4_uc010ywl.2_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1345 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 ACCTGATCTAGTTGAAGTATC 0.403000 157 82 0 0 0.014410 0 0 CTIF 9811 broad.mit.edu 37 18 46190122 46190123 + Splice_Site DNP GA AT AT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:46190122_46190123GA>AT uc002ldd.3 + 5 612 c.253_splice c.e5-1 p.N85_splice CTIF_uc002ldc.3_Splice_Site_p.N85_splice NM_001142397 NP_001135869 O43310 CTIF_HUMAN Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA. 85 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 ATCTCTTCCAGAATGGCAGCAA 0.604000 OREG0024970 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 32 0 0 0.004672 0 0 GRM8 2918 broad.mit.edu 37 7 126249504 126249504 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:126249504C>T uc003vlr.2 - 6 1717 c.1406G>A c.(1405-1407)gGa>gAa p.G469E GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G469E|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 469 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) ATCATAACGTCCAGGAGCATC 0.388000 HNSCC(24;0.065) 30 27 0 0 0.004656 0 0 C7orf45 136263 broad.mit.edu 37 7 129847778 129847778 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:129847778G>A uc003vpp.3 + 0 75 c.28G>A c.(28-30)Gag>Aag p.E10K TMEM209_uc003vpn.2_5'Flank|TMEM209_uc010lmc.1_5'Flank|TMEM209_uc003vpo.2_5'Flank NM_145268 NP_660311 Q8WWF3 CG045_HUMAN Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA. 10 integral to membrane endometrium(2)|kidney(1)|lung(6)|ovary(1) 10 Melanoma(18;0.0435) CTTATTTTGGGAGGTAGATCC 0.433000 47 47 0 0 0.014410 0 0 FAT4 79633 broad.mit.edu 37 4 126367457 126367457 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:126367457C>T uc003ifj.4 + 7 7203 c.7203C>T c.(7201-7203)atC>atT p.I2401I FAT4_uc011cgp.2_Silent_p.I699I|FAT4_uc003ifi.1_5'Flank NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2401 Cadherin 23. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R2400M(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTTATAGGATCATCGGTGGAA 0.343000 23 24 0 0 0.004656 0 0 MYH11 4629 broad.mit.edu 37 16 15844056 15844056 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:15844056G>A uc002ddx.3 - 16 2125 c.2018C>T c.(2017-2019)aCc>aTc p.T673I MYH11_uc002ddv.3_Missense_Mutation_p.T673I|MYH11_uc002ddw.3_Missense_Mutation_p.T666I|MYH11_uc002ddy.3_Missense_Mutation_p.T666I|MYH11_uc010bvg.3_Missense_Mutation_p.T498I|MYH11_uc002dea.1_Missense_Mutation_p.T372I NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 666 Actin-binding (By similarity).|Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle p.T672M(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCGTAGCGTGGTCATCAGCTT 0.637000 T CBFB AML 47 24 0 0 0.006320 0 0 CTNNBL1 56259 broad.mit.edu 37 20 36407653 36407653 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:36407653C>T uc021wdj.1 + 9 1038 c.947C>T c.(946-948)tCc>tTc p.S316F CTNNBL1_uc002xhh.3_Missense_Mutation_p.S129F|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Missense_Mutation_p.S64F NM_030877 NP_110517 Q8WYA6 CTBL1_HUMAN Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA. 316 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) CTGTTTGATTCCCTCTGCTCC 0.478000 31 24 0 0 0.003330 0 0 WNT10A 80326 broad.mit.edu 37 2 219757713 219757713 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:219757713C>T uc002vjd.1 + 3 1437 c.974C>T c.(973-975)cCc>cTc p.P325L NM_025216 NP_079492 Q9GZT5 WN10A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA. 325 Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ccgggcgctcccgggccgcgc 0.766000 5 7 0 0 0.001984 0 0 SIPA1 6494 broad.mit.edu 37 11 65408787 65408787 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:65408787C>T uc001ofb.2 + 1 562 c.395C>T c.(394-396)tCt>tTt p.S132F SIPA1_uc010rom.1_Missense_Mutation_p.S132F|SIPA1_uc001ofd.2_Missense_Mutation_p.S132F NM_006747 NP_694985 Q96FS4 SIPA1_HUMAN Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA. 132 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 GCTCCGAGGTCTCAGGGGATG 0.627000 39 25 0 0 0.003954 0 0 CASKIN1 57524 broad.mit.edu 37 16 2237453 2237453 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:2237453G>A uc010bsg.1 - 6 659 c.627C>T c.(625-627)ctC>ctT p.L209L NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA. 209 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 TGCCGGCTTGGAGGAGGAGCC 0.677000 16 20 0 0 0.008871 0 0 KCNH6 81033 broad.mit.edu 37 17 61621705 61621705 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:61621705G>A uc002jay.3 + 11 2517 c.2437G>A c.(2437-2439)Gaa>Aaa p.E813K KCNH6_uc010wpl.2_Missense_Mutation_p.E654K|KCNH6_uc010wpm.2_Missense_Mutation_p.E777K|KCNH6_uc002jaz.1_Missense_Mutation_p.E724K NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 813 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) AAGCCCTCAGGAAGACCCAGA 0.622000 16 41 0 0 0.006999 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059584 11059584 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:11059584C>T uc010hdq.3 + 3 705 c.294C>T c.(292-294)ttC>ttT p.F98F NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 98 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TCCCACTCTTCCTGCTGGAGT 0.567000 79 47 0 0 0.014410 0 0 SLC35F4 341880 broad.mit.edu 37 14 58030954 58030954 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:58030954C>T uc021rtp.1 - 7 1403 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Missense_Mutation_p.E330K NM_001206920 NP_001193849 Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA. p.F452L(1) breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTCTTCTTTTCCTTCAGGCTG 0.522000 11 7 0 0 0.001984 0 0 RADIL 55698 broad.mit.edu 37 7 4874663 4874663 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:4874663C>T uc003snj.1 - 3 1164 c.991G>A c.(991-993)Gag>Aag p.E331K RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.E91K|RADIL_uc011jwd.1_Non-coding_Transcript NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Homo sapiens Ras association and DIL domains (RADIL), mRNA. 331 FHA. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) TGCCCCACCTCGGAGAAGTTG 0.706000 9 5 0 0 0.001168 0 0 CDH16 1014 broad.mit.edu 37 16 66944308 66944308 + Nonsense_Mutation SNP G T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:66944308G>T uc002eql.3 - 14 2216 c.2022C>A c.(2020-2022)taC>taA p.Y674* CDH16_uc010cdy.3_Nonsense_Mutation_p.Y652*|CDH16_uc021tjx.1_Intron|CDH16_uc002eqm.3_Nonsense_Mutation_p.Y577* NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 674 Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTGTGCAGAGGTATTGGGAGG 0.627000 38 33 1.30998e-17 1.39675e-17 0.005524 1 0 COL2A1 1280 broad.mit.edu 37 12 48368607 48368607 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:48368607C>T uc001rqu.3 - 51 4106 c.3925G>A c.(3925-3927)Gac>Aac p.D1309N COL2A1_uc001rqt.3_Missense_Mutation_p.D90N|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.D1240N NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 1309 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding p.L1309I(1)|p.F1308F(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TTCATGGCGTCCAAGGTGCAG 0.552000 61 32 0 0 0.006230 0 0 CYP26C1 340665 broad.mit.edu 37 10 94824257 94824257 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:94824257G>A uc010qns.2 + 3 825 c.825G>A c.(823-825)agG>agA p.R275R CYP26C1_uc009xud.3_Intron NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN Homo sapiens cytochrome P450, family 26, subfamily C, polypeptide 1 (CYP26C1), mRNA. 275 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) ACAGTGCAAGGGAGCTGGGCC 0.592000 47 24 0 0 0.006320 0 0 PGBD1 84547 broad.mit.edu 37 6 28253470 28253470 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:28253470C>T uc003nky.3 + 2 959 c.539C>T c.(538-540)cCc>cTc p.P180L PGBD1_uc003nkz.3_Missense_Mutation_p.P180L NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA. 180 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 CAAGGGAACCCCCAAGAAGTG 0.532000 10 41 0 0 0.014410 0 0 NAV3 89795 broad.mit.edu 37 12 78362305 78362305 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:78362305G>A uc001syp.3 + 4 667 c.494G>A c.(493-495)aGa>aAa p.R165K NAV3_uc001syo.3_Missense_Mutation_p.R165K NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 165 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACAGAAATAAGAAATGGAAAC 0.308000 HNSCC(70;0.22) 37 16 0 0 0.004007 0 0 KLRAP1 10748 broad.mit.edu 37 12 10750678 10750678 + RNA SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:10750678C>T uc010shf.2 - 1 c.445G>A KLRAP1_uc010shg.2_Non-coding_Transcript|KLRAP1_uc009zho.3_Non-coding_Transcript|KLRAP1_uc009zhn.3_Non-coding_Transcript Homo sapiens killer cell lectin-like receptor subfamily A pseudogene 1 (KLRAP1), non-coding RNA. breast(1)|large_intestine(1)|lung(1) 3 TGAGTATCATCAGGCCTTAAT 0.368000 132 72 0 0 0.014410 0 0 BCMO1 53630 broad.mit.edu 37 16 81303936 81303936 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:81303936A>G uc002fgn.1 + 6 1234 c.1016A>G c.(1015-1017)aAc>aGc p.N339S BCMO1_uc010vnp.1_Missense_Mutation_p.N270S NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA. 339 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 TACCTGGCCAACCTGAACCAG 0.572000 52 39 0 0 0.004878 0 0 CFB 629 broad.mit.edu 37 6 31918410 31918410 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:31918410G>A uc003nyj.4 + 12 1917 c.1639G>A c.(1639-1641)Gac>Aac p.D547N CFB_uc011dor.2_Missense_Mutation_p.D1049N|CFB_uc003nyi.2_Silent_p.G618G NM_001710 NP_001701 P00751 CFAB_HUMAN Homo sapiens complement factor B (CFB), mRNA. 547 Peptidase S1. 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 GGAGAAGCGGGACCTGGAGAT 0.488000 38 212 0 0 0.014410 0 0 FRY 10129 broad.mit.edu 37 13 32745367 32745367 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:32745367G>A uc001utx.3 + 17 2607 c.2111G>A c.(2110-2112)gGa>gAa p.G704E FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 704 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CAGACACAAGGAAAAGTCTAT 0.373000 19 24 0 0 0.002780 0 0 SLA2 84174 broad.mit.edu 37 20 35269708 35269709 + Silent DNP GA AC AC TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:35269708_35269709GA>AC uc002xfv.3 - 1 453_454 c.30_31TC>GT c.(28-33)tctctg>tcGTtg p.10_11SL>SL SLA2_uc002xfu.3_Silent_p.10_11SL>SL NM_032214 NP_115590 Q9H6Q3 SLAP2_HUMAN Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA. 10 B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane SH3/SH2 adaptor activity|protein N-terminus binding endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GGGCTTGGCAGAGATTTTCTTC 0.550000 43 28 0 0 0.004672 0 0 PCNT 5116 broad.mit.edu 37 21 47831873 47831873 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:47831873C>T uc002zji.4 + 27 5993 c.5886C>T c.(5884-5886)ccC>ccT p.P1962P PCNT_uc002zjj.3_Silent_p.P1844P NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1962 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CACGGGTGCCCGGGGCCCACC 0.697000 7 7 0 0 0.003080 0 0 MSGN1 343930 broad.mit.edu 37 2 17997862 17997862 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:17997862C>T uc010yjt.2 + 0 77 c.77C>T c.(76-78)tCc>tTc p.S26F NM_001105569 NP_001099039 A6NI15 MSGN1_HUMAN Homo sapiens mesogenin 1 (MSGN1), mRNA. 26 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTGCTGTCTTCCTGGGACTGG 0.602000 38 17 0 0 0.004990 0 0 PTPRU 10076 broad.mit.edu 37 1 29610486 29610486 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:29610486A>C uc001bru.3 + 12 2306 c.2177A>C c.(2176-2178)aAa>aCa p.K726T PTPRU_uc009vtq.3_Missense_Mutation_p.K726T|PTPRU_uc009vtr.3_Missense_Mutation_p.K726T|PTPRU_uc001brw.3_Missense_Mutation_p.K726T NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 726 canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ATTGCCAGGAAAGGTAAGTCC 0.622000 85 45 0 0 0.014410 0 0 KLHL38 340359 broad.mit.edu 37 8 124658255 124658255 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:124658255C>T uc003yqs.1 - 2 1494 c.1470G>A c.(1468-1470)agG>agA p.R490R NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA. 490 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 AAGCAAGAATCCTCCTTGTGT 0.507000 32 20 0 0 0.007413 0 0 XIRP2 129446 broad.mit.edu 37 2 168101932 168101932 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:168101932C>T uc002udx.3 + 8 4119 c.4030C>T c.(4030-4032)Cat>Tat p.H1344Y XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H1169Y|XIRP2_uc010fpq.3_Missense_Mutation_p.H1122Y|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1169 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGAGGTAATTCATGGAGATGT 0.383000 21 19 0 0 0.008871 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172136 47172136 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:47172136G>A uc001rpi.2 - 11 1408 c.1009C>T c.(1009-1011)Cct>Tct p.P337S SLC38A4_uc001rpj.2_Missense_Mutation_p.P337S NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 337 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) ACTAGGATAGGAATTGCATAG 0.393000 18 17 0 0 0.007413 0 0 DEFB112 245915 broad.mit.edu 37 6 50011502 50011502 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:50011502C>T uc011dws.2 - 1 128 c.128G>A c.(127-129)gGg>gAg p.G43E NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN Homo sapiens defensin, beta 112 (DEFB112), mRNA. 43 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) GATATGGTGCCCTTCACTTCT 0.408000 31 34 0 0 0.004878 0 0 LAMA2 3908 broad.mit.edu 37 6 129371128 129371128 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:129371128G>A uc021zfb.1 + 1 283 c.178G>A c.(178-180)Gaa>Aaa p.E60K LAMA2_uc003qbn.3_Missense_Mutation_p.E60K|LAMA2_uc003qbo.3_Missense_Mutation_p.E60K NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 60 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.E60A(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AACATGTGGAGAAAAAGGACC 0.453000 7 20 0 0 0.008871 0 0 NETO1 81832 broad.mit.edu 37 18 70417514 70417514 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:70417514C>T uc002lkw.3 - 8 1608 c.1324G>A c.(1324-1326)Ggc>Agc p.G442S NETO1_uc002lky.2_Missense_Mutation_p.G442S NM_001201465 NP_001188394 Q8TDF5 NETO1_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA. 442 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CTGCGGCTGCCTTTAGTGCTG 0.468000 25 18 0 0 0.007413 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51048686 51048686 + Missense_Mutation SNP T G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:51048686T>G uc003bmx.3 + 11 2464 c.2347T>G c.(2347-2349)Tgc>Ggc p.C783G MAPK8IP2_uc003bmy.3_Missense_Mutation_p.C756G|MAPK8IP2_uc011asc.2_Missense_Mutation_p.C138G NM_012324 NP_036456 Q13387 JIP2_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA. 784 PID. MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCGCTTCGCCTGCCACGTCTT 0.647000 8 5 0 0 0.001168 0 0 OR52A5 390054 broad.mit.edu 37 11 5153501 5153501 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:5153501G>A uc010qyx.2 - 0 372 c.372C>T c.(370-372)cgC>cgT p.R124R NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA. 124 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) TGGCCACATAGCGATCCAGGG 0.468000 28 18 0 0 0.006122 0 0 AK302306 0 broad.mit.edu 37 15 28600114 28600114 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:28600114C>T uc010uaf.1 - 2 234 c.216G>A c.(214-216)agG>agA p.R72R DQ595648_uc021sgj.1_5'Flank SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA; CTAGCTCCCTCCTTAGGGCTT 0.502000 47 7 0 0 0.003080 0 0 TMEM214 54867 broad.mit.edu 37 2 27263281 27263281 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:27263281C>T uc002ria.4 + 15 1970 c.1860C>T c.(1858-1860)ttC>ttT p.F620F TMEM214_uc002rib.4_Silent_p.F575F NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA. 620 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CCCTGCTTTTCCACCAGAATG 0.587000 54 50 0 0 0.014410 0 0 RANBP17 64901 broad.mit.edu 37 5 170725792 170725792 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:170725792G>A uc003mba.3 + 27 3339 c.3197G>A c.(3196-3198)aGa>aAa p.R1066K RANBP17_uc003mbb.3_Missense_Mutation_p.R391K|RANBP17_uc010jjs.3_Non-coding_Transcript NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN Homo sapiens RAN binding protein 17 (RANBP17), mRNA. 1066 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTGTATTCAGAAGAGATGTG 0.502000 T TRD@ ALL 23 19 0 0 0.003954 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67171744 67171744 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:67171744C>T uc001ola.3 + 1 100 c.71C>T c.(70-72)tCc>tTc p.S24F PPP1CA_uc001oku.1_5'Flank|PPP1CA_uc001okv.1_5'Flank|PPP1CA_uc001okw.1_5'Flank|PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Missense_Mutation_p.S24F|TBC1D10C_uc001olb.3_Non-coding_Transcript NM_198517 NP_940919 Q8IV04 TB10C_HUMAN Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA. 24 intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TCCTTGGGGTCCGACTCAGAG 0.682000 8 8 0 0 0.008291 0 0 PASK 23178 broad.mit.edu 37 2 242080011 242080011 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:242080011C>T uc002wao.2 - 2 487 c.354G>A c.(352-354)tgG>tgA p.W118* PASK_uc010zol.2_Intron|PASK_uc010zom.2_Nonsense_Mutation_p.W118*|PASK_uc010fzl.2_Nonsense_Mutation_p.W118*|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Nonsense_Mutation_p.W118*|PASK_uc002waq.3_Nonsense_Mutation_p.W118* NM_015148 NP_055963 Q96RG2 PASK_HUMAN Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA. 118 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GAGGTGAGGACCACCCTGAGG 0.607000 18 11 0 0 0.010729 0 0 FGFR1 2260 broad.mit.edu 37 8 38273437 38273437 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:38273437G>A uc022aua.1 - 12 2747 c.1805C>T c.(1804-1806)tCc>tTc p.S602F FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Missense_Mutation_p.S633F|FGFR1_uc011lbv.2_Missense_Mutation_p.S600F|FGFR1_uc011lbw.2_Missense_Mutation_p.S513F|FGFR1_uc003xlp.3_Missense_Mutation_p.S600F|FGFR1_uc022aub.1_Missense_Mutation_p.S600F|FGFR1_uc022auc.1_Missense_Mutation_p.S513F|FGFR1_uc022aud.1_Missense_Mutation_p.S511F|FGFR1_uc010lwk.3_Missense_Mutation_p.S592F NM_023110 NP_075598 P11362 FGFR1_HUMAN Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA. 602 Protein kinase. MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GTAGGCGCAGGACACCAGGTC 0.642000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 28 12 0 0 0.013537 0 0 FTSJ3 117246 broad.mit.edu 37 17 61898924 61898924 + Missense_Mutation SNP C T T rs142875570 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:61898924C>T uc002jbz.3 - 14 1754 c.1676G>A c.(1675-1677)cGg>cAg p.R559Q FTSJ3_uc002jca.3_Missense_Mutation_p.R559Q NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA. 559 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CCGTCCCTTCCGCCGGTTCTC 0.567000 63 28 0 0 0.005443 0 0 MYH13 8735 broad.mit.edu 37 17 10267715 10267715 + Missense_Mutation SNP C G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:10267715C>G uc002gmk.1 - 2 223 c.133G>C c.(133-135)Gaa>Caa p.E45Q NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 45 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ACATACATTTCCTTATTATCC 0.448000 20 9 0 0 0.010729 0 0 URB2 9816 broad.mit.edu 37 1 229779425 229779425 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:229779425G>A uc001hts.1 + 4 3916 c.3780G>A c.(3778-3780)tgG>tgA p.W1260* URB2_uc009xfd.1_Nonsense_Mutation_p.W1260* NM_014777 NP_055592 Q14146 URB2_HUMAN Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA. 1260 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GTAACATGTGGAAAGCAGATG 0.522000 130 29 0 0 0.010818 0 0 EML5 161436 broad.mit.edu 37 14 89109309 89109309 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:89109309G>A uc021ryf.1 - 29 4414 c.4165C>T c.(4165-4167)Cac>Tac p.H1389Y EML5_uc001xxf.3_Missense_Mutation_p.H176Y|EML5_uc021ryg.1_Missense_Mutation_p.H1389Y|EML5_uc001xxh.1_Missense_Mutation_p.H520Y NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA. 1381 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TTTAAATAGTGAACATTATTC 0.358000 65 37 0 0 0.008740 0 0 RP11-165H20.1 149620 broad.mit.edu 37 1 111825688 111825688 + RNA SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:111825688C>T uc009wgb.3 + 3 c.1207C>T Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA. GCTGGCATCTCCAACATCCAG 0.517000 35 21 0 0 0.002780 0 0 ELK3 2004 broad.mit.edu 37 12 96640771 96640771 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:96640771C>T uc001teo.1 + 2 540 c.261C>T c.(259-261)ttC>ttT p.F87F NM_005230 NP_005221 P41970 ELK3_HUMAN Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA. 87 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.S86Y(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) TTGTCTCTTTCCCGGAGATCC 0.532000 31 21 0 0 0.004656 0 0 CD55 1604 broad.mit.edu 37 1 207504512 207504512 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:207504512C>T uc001hfq.4 + 5 1018 c.724C>T c.(724-726)Cat>Tat p.H242Y CD55_uc001hfr.4_Missense_Mutation_p.H242Y|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.H178Y|CD55_uc009xce.3_Missense_Mutation_p.H242Y NM_000574 NP_000565 P08174 DAF_HUMAN Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA. 242 Sushi 4. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity p.H242Y(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) GGAACGTGACCATTATGGATA 0.323000 88 21 0 0 0.014323 0 0 GML 2765 broad.mit.edu 37 8 143922636 143922636 + Missense_Mutation SNP C T T rs139347831 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:143922636C>T uc003yxg.3 + 2 266 c.176C>T c.(175-177)tCc>tTc p.S59F NM_002066 NP_002057 Q99445 GML_HUMAN Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA. 59 UPAR/Ly6. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ATGACAATCTCCATTCGTAAG 0.453000 31 21 0 0 0.003954 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47570183 47570183 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:47570183C>T uc002xtx.4 + 5 846 c.694C>T c.(694-696)Cgt>Tgt p.R232C NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 232 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AAAGTTCGTTCGTTTGAAGCA 0.473000 47 30 0 0 0.007291 0 0 PDS5A 23244 broad.mit.edu 37 4 39846297 39846297 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:39846297G>A uc003guv.4 - 29 4067 c.3527C>T c.(3526-3528)cCt>cTt p.P1176L NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA. 1176 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 TCCGGTTGAAGGGTTCAGCTC 0.388000 53 33 0 0 0.003271 0 0 WFS1 7466 broad.mit.edu 37 4 6302829 6302829 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:6302829C>T uc003giy.3 + 7 1473 c.1307C>T c.(1306-1308)aCc>aTc p.T436I WFS1_uc003gix.3_Missense_Mutation_p.T436I|WFS1_uc003giz.3_Missense_Mutation_p.T254I NM_001145853 NP_005996 O76024 WFS1_HUMAN Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA. 436 ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) GCTGTCATCACCGGCTTCTTT 0.622000 241 146 0 0 0.014410 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623768 21623769 + Missense_Mutation DNP CT TA TA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:21623768_21623769CT>TA uc010tlp.2 - 0 416_417 c.416_417AG>TA c.(415-417)aag>aTA p.K139I NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA. 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) TCACTTTCCTCTTGGCCAAGAA 0.520000 33 17 0 0 0.004672 0 0 ZNF709 163051 broad.mit.edu 37 19 12575435 12575435 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:12575435G>A uc002mtv.4 - 3 1462 c.1301C>T c.(1300-1302)tCt>tTt p.S434F ZNF709_uc002mtw.4_Missense_Mutation_p.S402F|ZNF709_uc002mtx.4_Missense_Mutation_p.S434F NM_152601 NP_689814 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 709 (ZNF709), mRNA. 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TATTCGAACAGAACTGGAACA 0.413000 83 46 0 0 0.014410 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718588 103718588 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:103718588C>T uc001vpy.4 - 0 609 c.12G>A c.(10-12)ccG>ccA p.P4P NM_000452 NP_000443 Q12908 NTCP2_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA. 4 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity p.P4Q(1) breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CACAGCTGTTCGGATCATTCA 0.517000 38 26 0 0 0.005443 0 0 USHBP1 83878 broad.mit.edu 37 19 17367358 17367358 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:17367358G>A uc002nfs.1 - 8 1505 c.1392C>T c.(1390-1392)gcC>gcT p.A464A USHBP1_uc002nfr.1_Silent_p.A90A|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.A400A NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 464 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 TCCCCAGAATGGCCTGCACCA 0.612000 74 50 0 0 0.014410 0 0 CHD4 1108 broad.mit.edu 37 12 6697065 6697065 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:6697065G>A uc001qpo.3 - 23 3680 c.3516C>T c.(3514-3516)taC>taT p.Y1172Y CHD4_uc001qpn.3_Silent_p.Y1165Y|CHD4_uc001qpp.3_Silent_p.Y1169Y NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 1172 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TCACAAACCGGTAGATCATTA 0.512000 32 34 0 0 0.010818 0 0 PSMG3 84262 broad.mit.edu 37 7 1607429 1607429 + Missense_Mutation SNP T G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:1607429T>G uc003skx.2 - 1 928 c.274A>C c.(274-276)Aac>Cac p.N92H PSMG3_uc011jvx.1_Missense_Mutation_p.N92H|KIAA1908_uc003sla.3_5'Flank NM_032302 NP_115678 Q9BT73 PSMG3_HUMAN Homo sapiens proteasome (prosome, macropain) assembly chaperone 3 (PSMG3), transcript variant 1, mRNA. 92 lung(2) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15) ACTGCTCTGTTTCCAGCTTCT 0.537000 24 24 0 0 0.007291 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60036293 60036293 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:60036293G>A uc002lin.3 + 8 1181 c.1143G>A c.(1141-1143)ggG>ggA p.G381G TNFRSF11A_uc010dpv.3_Intron NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA. 381 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) TGGAGGTGGGGGAGAATGACA 0.552000 22 21 0 0 0.002780 0 0 FAM75D1 389763 broad.mit.edu 37 9 84610012 84610012 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:84610012C>T uc004amn.3 + 3 4674 c.4627C>T c.(4627-4629)Cca>Tca p.P1543S NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 1543 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 TCCAGCCGTCCCAACCAGTGC 0.527000 5 9 0 0 0.004482 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46387795 46387795 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:46387795G>A uc002pds.1 - 0 1582 c.1238C>T c.(1237-1239)tCc>tTc p.S413F NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA. 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) GGTCTCAGCGGAGTACGGGCC 0.716000 22 15 0 0 0.008871 0 0 PVRL4 81607 broad.mit.edu 37 1 161044516 161044516 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:161044516C>T uc001fxo.2 - 4 1184 c.885G>A c.(883-885)gtG>gtA p.V295V PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Silent_p.V29V NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA. 295 Ig-like C2-type 2. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGTCCCCATCCACTCGTACCC 0.602000 44 12 0 0 0.002450 0 0 KIAA0391 9692 broad.mit.edu 37 14 35593368 35593368 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:35593368C>T uc001wsy.1 + 1 1277 c.917C>T c.(916-918)tCa>tTa p.S306L KIAA0391_uc010tps.1_Missense_Mutation_p.S211L|KIAA0391_uc001wsz.1_Missense_Mutation_p.S306L|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.3_5'Flank|PPP2R3C_uc001wst.3_5'Flank|PPP2R3C_uc010tpr.2_5'Flank|PPP2R3C_uc001wsu.3_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.3_5'Flank|PPP2R3C_uc001wsx.1_5'Flank NM_014672 NP_055487 O15091 MRRP3_HUMAN Homo sapiens KIAA0391 (KIAA0391), mRNA. 306 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) GATATTCTTTCATATCTAAGA 0.284000 23 14 0 0 0.004007 0 0 SIM1 6492 broad.mit.edu 37 6 100841684 100841684 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:100841684G>A uc003pqj.4 - 9 1716 c.1249C>T c.(1249-1251)Ccg>Tcg p.P417S SIM1_uc021zdg.1_Missense_Mutation_p.P417S|SIM1_uc010kcu.3_Missense_Mutation_p.P417S NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 417 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AGAAGCTGCGGAGAGGCCGTG 0.587000 5 17 0 0 0.004007 0 0 PCLO 27445 broad.mit.edu 37 7 82585618 82585618 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:82585618C>T uc003uhx.2 - 4 4940 c.4651G>A c.(4651-4653)Gaa>Aaa p.E1551K PCLO_uc003uhv.2_Missense_Mutation_p.E1551K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1482 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCCTCCTCTTCCCCTGATCCT 0.413000 46 31 0 0 0.009535 0 0 TRIM54 57159 broad.mit.edu 37 2 27521478 27521478 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:27521478C>T uc002rjo.3 + 1 515 c.212C>T c.(211-213)tCt>tTt p.S71F TRIM54_uc002rjn.3_Missense_Mutation_p.S71F NM_187841 NP_912730 Q9BYV2 TRI54_HUMAN Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA. 71 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCACTGTGTCTTCAGGAGGC 0.602000 31 15 0 0 0.003163 0 0 NR5A2 2494 broad.mit.edu 37 1 200008808 200008808 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:200008808C>T uc001gvb.3 + 1 293 c.87C>T c.(85-87)caC>caT p.H29H NR5A2_uc001gvc.3_Intron|NR5A2_uc009wzh.3_5'UTR|NR5A2_uc010pph.2_5'Flank|NR5A2_uc009wzg.1_Non-coding_Transcript NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 29 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) CGGACCGACACGGATCCCCCA 0.647000 135 29 0 0 0.012213 0 0 TAF1L 138474 broad.mit.edu 37 9 32631678 32631678 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:32631678G>A uc003zrg.1 - 0 3990 c.3900C>T c.(3898-3900)ctC>ctT p.L1300L AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1300 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTTGATAATAGAGGGGGCAGA 0.433000 98 74 0 0 0.014410 0 0 PRPF40B 25766 broad.mit.edu 37 12 50037688 50037688 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:50037688G>A uc001rur.1 + 23 2487 c.2424G>A c.(2422-2424)aaG>aaA p.K808K FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001ruq.1_Silent_p.K795K|PRPF40B_uc001rus.1_Silent_p.K750K|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA. 808 RNA splicing|mRNA processing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 AAGCTGGCAAGGAGAGCGATG 0.542000 34 10 0 0 0.006214 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48565342 48565342 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:48565342G>A uc010xzd.2 - 13 1537 c.1200C>T c.(1198-1200)atC>atT p.I400I PLA2G4C_uc002phw.3_Silent_p.I325I|PLA2G4C_uc010elr.3_Silent_p.I390I|PLA2G4C_uc002phx.3_Silent_p.I390I NM_001159322 NP_001152794 Q9UP65 PA24C_HUMAN Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA. 390 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) AGGGAGTGTTGATGGCTAAAC 0.582000 40 26 0 0 0.006320 0 0 OR9A2 135924 broad.mit.edu 37 7 142723947 142723947 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:142723947C>T uc003wcc.1 - 0 273 c.273G>A c.(271-273)caG>caA p.Q91Q NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q91*(1) central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) GAGAAAGATACTGTCTGCATC 0.483000 25 20 0 0 0.008871 0 0 ZNF18 7566 broad.mit.edu 37 17 11881676 11881676 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:11881676G>A uc002gng.1 - 8 1853 c.1248C>T c.(1246-1248)acC>acT p.T416T ZNF18_uc002gnh.1_Silent_p.T416T|ZNF18_uc002gni.1_Silent_p.T415T NM_144680 NP_653281 P17022 ZNF18_HUMAN Homo sapiens zinc finger protein 18 (ZNF18), mRNA. 416 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) TCCTATAAAAGGTCTTCCCAC 0.522000 66 42 0 0 0.013114 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21793025 21793025 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:21793025G>A uc001wag.3 + 13 2011 c.2011G>A c.(2011-2013)Ggg>Agg p.G671R RPGRIP1_uc001wah.3_Missense_Mutation_p.G313R|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.G136R|RPGRIP1_uc001wak.3_Missense_Mutation_p.G146R|RPGRIP1_uc010aim.3_Missense_Mutation_p.G54R|RPGRIP1_uc001wal.3_Intron|RPGRIP1_uc001wam.3_5'UTR NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 671 response to stimulus|visual perception cilium p.G287W(1)|p.G671W(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) ATTATCTGTGGGGCCACAGCC 0.507000 101 68 0 0 0.014410 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147674960 147674960 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:147674960G>A uc003weu.2 + 14 2778 c.2262G>A c.(2260-2262)aaG>aaA p.K754K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 754 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCAGGAGGAAGGATGCTGGTT 0.443000 HNSCC(39;0.1) 38 18 0 0 0.012319 0 0 MYO3A 53904 broad.mit.edu 37 10 26465656 26465656 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:26465656C>T uc001isn.2 + 30 4680 c.4320C>T c.(4318-4320)ttC>ttT p.F1440F MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1440 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AAGAATATTTCATTCTGCAGA 0.383000 12 8 0 0 0.003080 0 0 C3orf24 115795 broad.mit.edu 37 3 10146260 10146260 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:10146260C>T uc003buz.3 - 1 424 c.199G>A c.(199-201)Gga>Aga p.G67R C3orf24_uc003bva.2_Missense_Mutation_p.G67R|C3orf24_uc021wsy.1_Missense_Mutation_p.G67R NM_173472 NP_775743 Q96PS1 CC024_HUMAN Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA. 67 endometrium(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(96;0.196) GGACTCACTCCAGATTCCAGG 0.562000 22 17 0 0 0.004990 0 0 SH3D19 152503 broad.mit.edu 37 4 152069112 152069112 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:152069112G>A uc010ipl.1 - 10 2294 c.1204C>T c.(1204-1206)Cgt>Tgt p.R402C SH3D19_uc003imb.2_Missense_Mutation_p.R180C|SH3D19_uc003imc.2_Missense_Mutation_p.R366C|SH3D19_uc003ime.2_Missense_Mutation_p.R402C|SH3D19_uc010ipm.2_Missense_Mutation_p.R402C NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA. 402 cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport Golgi apparatus|cytosol|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GGTTTGGGACGAGGGGGTAGC 0.388000 30 24 0 0 0.004656 0 0 GDF10 2662 broad.mit.edu 37 10 48428785 48428785 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:48428785C>T uc001jfb.3 - 1 1529 c.1101G>A c.(1099-1101)agG>agA p.R367R GDF10_uc009xnp.3_Silent_p.R366R|GDF10_uc009xnq.2_Silent_p.R367R NM_004962 NP_004953 P55107 BMP3B_HUMAN Homo sapiens growth differentiation factor 10 (GDF10), mRNA. 367 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CCCACTGCTTCCTCCGGGCTT 0.582000 27 21 0 0 0.002780 0 0 NALCN 259232 broad.mit.edu 37 13 101712206 101712206 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:101712206C>T uc001vox.1 - 41 5058 c.4869G>A c.(4867-4869)acG>acA p.T1623T NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 1623 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGTTGGCATTCGTGTCCTCAC 0.542000 47 27 0 0 0.006320 0 0 SORT1 6272 broad.mit.edu 37 1 109888410 109888410 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:109888410C>T uc001dxm.2 - 7 975 c.926G>A c.(925-927)gGg>gAg p.G309E SORT1_uc010ovi.2_Missense_Mutation_p.G172E|SORT1_uc009wfb.2_Missense_Mutation_p.G173E NM_002959 NP_002950 Q99523 SORT_HUMAN Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA. 309 Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GAAACGTCCCCCAAGACCAAA 0.428000 219 154 0 0 0.014410 0 0 TTC18 118491 broad.mit.edu 37 10 75051077 75051077 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:75051077C>T uc009xrc.3 - 19 2477 c.2356G>A c.(2356-2358)Gac>Aac p.D786N TTC18_uc001jty.3_Missense_Mutation_p.D786N|TTC18_uc001jtv.4_Intron|TTC18_uc001jtw.4_Intron|TTC18_uc001jtx.3_Missense_Mutation_p.D167N NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 786 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TCCTCAGTGTCTTCTACACCA 0.478000 69 41 0 0 0.013114 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58190091 58190091 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:58190091A>C uc002qpu.3 + 4 1817 c.1120A>C c.(1120-1122)Aaa>Caa p.K374Q NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA. 374 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGCATGTGTAAAAAGTCCTT 0.453000 82 49 0 0 0.014410 0 0 SHPK 23729 broad.mit.edu 37 17 3524682 3524682 + Silent SNP G C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:3524682G>C uc002fvz.1 - 4 775 c.672C>G c.(670-672)gtC>gtG p.V224V NM_013276 NP_037408 Q9UHJ6 SHPK_HUMAN Homo sapiens sedoheptulokinase (SHPK), mRNA. 224 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 COAD - Colon adenocarcinoma(5;0.0828) GGAGCAGGTGGACAGGAAAAC 0.557000 31 22 0 0 0.002780 0 0 TIE1 7075 broad.mit.edu 37 1 43779533 43779533 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:43779533C>T uc001ciu.3 + 13 2480 c.2303C>T c.(2302-2304)tCc>tTc p.S768F TIE1_uc010oke.2_Missense_Mutation_p.S723F|TIE1_uc009vwq.3_Missense_Mutation_p.S724F|TIE1_uc010okf.1_Missense_Mutation_p.S413F|TIE1_uc010okg.2_Missense_Mutation_p.S413F NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 768 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTGGTGGGCTCCGTGTCTGCC 0.632000 23 14 0 0 0.002450 0 0 HSF5 124535 broad.mit.edu 37 17 56540296 56540296 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:56540296G>A uc002iwi.1 - 3 1513 c.1389C>T c.(1387-1389)acC>acT p.T463T NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA. 463 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGTGTGGATGGTATAGATGT 0.448000 71 86 0 0 0.014410 0 0 COL6A2 1292 broad.mit.edu 37 21 47545378 47545378 + Splice_Site SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:47545378G>A uc002zia.1 + 25 1899 c.1817_splice c.e25-1 p.D606_splice COL6A2_uc002zhz.1_Splice_Site_p.D606_splice|COL6A2_uc002zhy.1_Splice_Site_p.D606_splice NM_001849 NP_001840 P12110 CO6A2_HUMAN Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA. 606 Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CACCCCCCCAGACTGTGAGAA 0.617000 33 22 0 0 0.012319 0 0 PRSS53 339105 broad.mit.edu 37 16 31095588 31095588 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:31095588G>A uc002eaq.3 - 9 1494 c.1494C>T c.(1492-1494)ttC>ttT p.F498F PRSS53_uc002ear.3_Silent_p.F292F NM_001039503 NP_001034592 Q2L4Q9 PRS53_HUMAN Homo sapiens protease, serine, 53 (PRSS53), mRNA. 498 Peptidase S1 2. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1)|lung(3) 4 AAGCATCTCCGAAGCTGTGCA 0.647000 13 14 0 0 0.004990 0 0 PPP1R36 145376 broad.mit.edu 37 14 65053938 65053938 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:65053938G>A uc001xhl.1 + 9 834 c.738G>A c.(736-738)gtG>gtA p.V246V PPP1R36_uc001xhm.1_5'UTR NM_172365 NP_758953 Q96LQ0 CN050_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA. 246 GTACATATGTGGCTTGGATTG 0.403000 14 11 0 0 0.010729 0 0 AK311167 0 broad.mit.edu 37 9 69067873 69067873 + RNA SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:69067873A>C uc010mnq.2 + 1 c.471A>C Homo sapiens cDNA, FLJ18209. aagaagaaaaagagcaaagat 0.284000 30 6 0 0 0.003080 0 0 AIM1L 55057 broad.mit.edu 37 1 26672304 26672304 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:26672304G>A uc001bmd.4 - 1 995 c.845C>T c.(844-846)aCa>aTa p.T282I NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN Homo sapiens absent in melanoma 1-like (AIM1L), mRNA. 0 Beta/gamma crystallin 'Greek key' 6. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) AAGCTCTGCTGTCCCGGTCTC 0.652000 10 7 0 0 0.001984 0 0 ICOSLG 23308 broad.mit.edu 37 21 45655426 45655426 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:45655426G>A uc010gpp.1 - 3 560 c.426C>T c.(424-426)gtC>gtT p.V142V ICOSLG_uc002zef.3_Silent_p.V25V|ICOSLG_uc002zee.3_Silent_p.V142V|ICOSLG_uc011afc.2_Silent_p.V52V NM_015259 NP_056074 O75144 ICOSL_HUMAN Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA. 142 Ig-like C2-type. B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GGGCGCTGACGACGGGCACGC 0.587000 59 34 0 0 0.005524 0 0 FAT3 120114 broad.mit.edu 37 11 92532383 92532383 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:92532383G>A uc001pdj.4 + 8 6221 c.6204G>A c.(6202-6204)gtG>gtA p.V2068V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2068 Cadherin 18. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGGCCAGAGTGGTGGTCAGGG 0.517000 TCGA Ovarian(4;0.039) 86 228 0 0 0.014410 0 0 COL8A1 1295 broad.mit.edu 37 3 99513517 99513517 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:99513517G>A uc003dti.1 + 2 903 c.775G>A c.(775-777)Ggg>Agg p.G259R MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G258R|COL8A1_uc003dth.1_Missense_Mutation_p.G258R NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 258 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GGGGCCTCCAGGGATGCACGG 0.662000 68 40 0 0 0.009718 0 0 MEP1A 4224 broad.mit.edu 37 6 46801057 46801057 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:46801057G>A uc011dwh.1 + 9 1483 c.1475G>A c.(1474-1476)gGa>gAa p.G492E MEP1A_uc010jzh.1_Missense_Mutation_p.G464E|MEP1A_uc011dwg.1_Missense_Mutation_p.G186E|MEP1A_uc011dwi.1_Missense_Mutation_p.G364E NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 464 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding p.G491A(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) AATTCGGAGGGATATGGTTTT 0.493000 66 36 0 0 0.003271 0 0 C19orf75 284369 broad.mit.edu 37 19 51768691 51768691 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:51768691G>A uc002pwb.1 + 2 473 c.92G>A c.(91-93)gGg>gAg p.G31E C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron NM_173635 NP_775906 Q8N7X8 CS075_HUMAN Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA. 31 integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1) 18 TCCTTCCATGGGATTCCCACA 0.587000 41 28 0 0 0.007291 0 0 ASB2 51676 broad.mit.edu 37 14 94419799 94419799 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:94419799A>G uc001ycd.3 - 4 903 c.533T>C c.(532-534)tTg>tCg p.L178S ASB2_uc001ycc.2_Missense_Mutation_p.L130S|ASB2_uc001yce.1_Missense_Mutation_p.L76S NM_001202429 NP_001189358 Q96Q27 ASB2_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA. 130 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GCACGTTGCCAAGTAAACGGC 0.582000 34 19 0 0 0.007413 0 0 C15orf42 90381 broad.mit.edu 37 15 90167479 90167479 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:90167479C>T uc002boe.3 + 19 3938 c.3938C>T c.(3937-3939)aCc>aTc p.T1313I C15orf42_uc021sug.1_Missense_Mutation_p.T1312I NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA. 1313 Pro-rich. DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding p.T1313S(1) NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 59 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) AAACTGTTTACCTCTCCTTTA 0.433000 71 41 0 0 0.014410 0 0 CSTF3 1479 broad.mit.edu 37 11 33123756 33123756 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:33123756G>A uc001muh.3 - 9 959 c.793C>T c.(793-795)Cgt>Tgt p.R265C TCP11L1_uc001muf.1_Intron NM_001326 NP_001317 Q12996 CSTF3_HUMAN Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA. 265 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm RNA binding|protein binding p.R265R(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 TCCTCTGTACGAAGAGGGTTG 0.438000 38 27 0 0 0.010818 0 0 A2ML1 144568 broad.mit.edu 37 12 8993994 8993995 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:8993994_8993995CC>TT uc001quz.4 + 10 1208_1209 c.1110_1111CC>TT c.(1108-1113)ttcctc>ttTTtc p.L371F A2ML1_uc001qva.1_5'Flank NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 215 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 ATGACTCCTTCCTCAAGAACCA 0.416000 41 30 0 0 0.004672 0 0 DENND3 22898 broad.mit.edu 37 8 142202455 142202455 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:142202455G>A uc003yvy.3 + 20 3443 c.3165G>A c.(3163-3165)atG>atA p.M1055I DENND3_uc010mep.3_Missense_Mutation_p.M1016I|DENND3_uc003ywa.1_Missense_Mutation_p.M105I|DENND3_uc003ywb.3_Missense_Mutation_p.M105I NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 1055 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCATGGTCATGAAAATGAATG 0.522000 39 20 0 0 0.010504 0 0 ABCC3 8714 broad.mit.edu 37 17 48733283 48733283 + Missense_Mutation SNP T G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:48733283T>G uc002isl.3 + 1 216 c.136T>G c.(136-138)Tgg>Ggg p.W46G ABCC3_uc002isk.4_Missense_Mutation_p.W46G NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 46 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CATCTACCTGTGGGTCGCCCT 0.602000 72 36 0 0 0.005524 0 0 PLXND1 23129 broad.mit.edu 37 3 129284830 129284830 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:129284830C>T uc003emx.2 - 23 4322 c.4222G>A c.(4222-4224)Gag>Aag p.E1408K PLXND1_uc011blb.1_Missense_Mutation_p.E76K|U7_uc021xdx.1_5'Flank NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1408 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CTAATTCCCTCTTCCATGTTG 0.567000 24 9 0 0 0.006214 0 0 PTX4 390667 broad.mit.edu 37 16 1537384 1537384 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:1537384C>T uc010uvf.2 - 1 714 c.714G>A c.(712-714)cgG>cgA p.R238R NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN Homo sapiens pentraxin 4, long (PTX4), mRNA. 243 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 CACTGAGTACCCGATGGCTGC 0.682000 25 15 0 0 0.004007 0 0 PRLR 5618 broad.mit.edu 37 5 35066046 35066046 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:35066046C>T uc003jjm.3 - 9 1573 c.1014G>A c.(1012-1014)atG>atA p.M338I PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.M237I|PRLR_uc021xxl.1_Intron NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 338 T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATGTGGGTTTCATACCTTGAC 0.493000 44 29 0 0 0.010818 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29906770 29906770 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:29906770C>T uc010vec.2 - 4 908 c.663G>A c.(661-663)ctG>ctA p.L221L BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.L151L|SEZ6L2_uc002dur.4_Silent_p.L151L|SEZ6L2_uc002duq.4_Silent_p.L221L|SEZ6L2_uc010ved.2_Silent_p.L177L|SEZ6L2_uc002dus.4_Intron NM_001243332 NP_001230261 Q6UXD5 SE6L2_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA. 221 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTGACAGGTTCAGCGTCTGCA 0.612000 22 25 0 0 0.003954 0 0 CARKD 55739 broad.mit.edu 37 13 111287046 111287046 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:111287046C>T uc001vrc.3 + 6 665 c.574C>T c.(574-576)Ccg>Tcg p.P192S CARKD_uc010tji.2_3'UTR|CARKD_uc010tjj.2_Missense_Mutation_p.P174S|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Non-coding_Transcript|CARKD_uc010tjk.2_Missense_Mutation_p.P82S|CARKD_uc010tjl.2_Missense_Mutation_p.P61S|CARKD_uc001vrb.3_Missense_Mutation_p.P192S|CARKD_uc021rmn.1_5'UTR NM_018210 NP_060680 Q8IW45 CARKD_HUMAN Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA. 192 YjeF C-terminal. NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 15 CGCTCAGCAGCCGGCCCTCAT 0.617000 20 14 0 0 0.002450 0 0 NTNG1 22854 broad.mit.edu 37 1 107950325 107950325 + Missense_Mutation SNP T G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:107950325T>G uc001dvh.4 + 4 1800 c.1082T>G c.(1081-1083)aTt>aGt p.I361S NTNG1_uc001dvc.4_Missense_Mutation_p.I361S|NTNG1_uc010out.2_Missense_Mutation_p.I361S|NTNG1_uc001dvf.4_Missense_Mutation_p.I361S|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_Intron|NTNG1_uc001dvd.1_Missense_Mutation_p.I361S NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA. 361 axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ATTTCCAGTATTGGTAGTAAG 0.318000 14 15 0 0 0.004007 0 0 FAM179A 165186 broad.mit.edu 37 2 29240077 29240077 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:29240077G>A uc010ezl.3 + 8 1453 c.1102G>A c.(1102-1104)Gag>Aag p.E368K FAM179A_uc010ymm.2_Missense_Mutation_p.E368K|FAM179A_uc002rmr.4_Intron NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 368 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GCAGATGAAGGAGATGGAGCT 0.557000 44 42 0 0 0.010771 0 0 OR52E6 390078 broad.mit.edu 37 11 5862771 5862771 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:5862771G>A uc010qzq.2 - 0 357 c.357C>T c.(355-357)gcC>gcT p.A119A TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAAAGGCCATGGCCACCAATA 0.448000 100 74 0 0 0.014410 0 0 DOCK5 80005 broad.mit.edu 37 8 26196487 26196487 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:26196487T>C uc003xeu.3 + 2 493 c.164T>C c.(163-165)tTt>tCt p.F55S DOCK5_uc003xek.3_Intron|DOCK5_uc011laf.2_Missense_Mutation_p.F65S NM_002717 NP_002708 Q9H7D0 DOCK5_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA. 0 SH3. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GTTGTCATCTTTCAACAGGAG 0.353000 70 59 0 0 0.014410 0 0 DSG4 147409 broad.mit.edu 37 18 28993511 28993511 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:28993511C>T uc002kwr.2 + 14 3268 c.3133C>T c.(3133-3135)Cga>Tga p.R1045* DSG4_uc002kwq.2_Nonsense_Mutation_p.R1026* NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 1026 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CATGACATCTCGACACAGAGT 0.438000 53 29 0 0 0.008361 0 0 OBSCN 84033 broad.mit.edu 37 1 228559597 228559597 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:228559597G>A uc009xez.1 + 93 21162 c.21118G>A c.(21118-21120)Ggt>Agt p.G7040S OBSCN_uc001hsr.1_Missense_Mutation_p.G1669S NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 7040 Pro-rich. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCCCAAGCAGGGTTCTGCCCC 0.672000 36 11 0 0 0.008291 0 0 LTBP2 4053 broad.mit.edu 37 14 74988709 74988709 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:74988709C>T uc001xqa.3 - 16 3080 c.2693G>A c.(2692-2694)gGa>gAa p.G898E NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 898 Cys-rich.|EGF-like 5; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GCGCCCTTTTCCCTTGCAGGG 0.617000 12 9 0 0 0.004482 0 0 CYLC1 1538 broad.mit.edu 37 X 83129179 83129179 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:83129179C>T uc004eei.1 + 3 1484 c.1463C>T c.(1462-1464)tCt>tTt p.S488F CYLC1_uc004eeh.1_Missense_Mutation_p.S487F NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 488 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 GAAATGGAATCTGATTTGGAG 0.343000 1 8 0 0 0.003080 0 0 ATP13A3 79572 broad.mit.edu 37 3 194170952 194170952 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:194170952G>A uc003fty.4 - 9 1294 c.892C>T c.(892-894)Cca>Tca p.P298S ATP13A3_uc003ftz.1_Missense_Mutation_p.P4S NM_024524 NP_078800 Q9H7F0 AT133_HUMAN Homo sapiens ATPase type 13A3 (ATP13A3), mRNA. 298 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CCATTTAATGGAATGACCATG 0.338000 15 4 0 0 0.000602 0 0 LCT 3938 broad.mit.edu 37 2 136561681 136561681 + Missense_Mutation SNP C G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:136561681C>G uc002tuu.1 - 10 4493 c.4482G>C c.(4480-4482)tgG>tgC p.W1494C NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 1494 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GTGGTAGGTCCCAGTGGTAAA 0.532000 30 18 0 0 0.006122 0 0 OR4D10 390197 broad.mit.edu 37 11 59245249 59245249 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:59245249C>T uc001nnz.1 + 0 347 c.347C>T c.(346-348)tCg>tTg p.S116L NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA. 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S114L(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTTCTCTTTCGGTGATGGCA 0.478000 39 33 0 0 0.010818 0 0 HRG 3273 broad.mit.edu 37 3 186390584 186390584 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:186390584G>A uc003fqq.3 + 4 590 c.567G>A c.(565-567)ggG>ggA p.G189G NM_000412 NP_000403 P04196 HRG_HUMAN Homo sapiens histidine-rich glycoprotein (HRG), mRNA. 189 Cystatin 2. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) AGAGAGGAGGGGAAGGAACTG 0.413000 19 20 0 0 0.010504 0 0 FAM193A 8603 broad.mit.edu 37 4 2691333 2691333 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:2691333C>T uc010ick.3 + 12 2160 c.2159C>T c.(2158-2160)cCa>cTa p.P720L FAM193A_uc003gfd.3_Missense_Mutation_p.P520L|FAM193A_uc011bvm.2_Missense_Mutation_p.P542L|FAM193A_uc011bvn.2_Missense_Mutation_p.P520L|FAM193A_uc010icl.3_Missense_Mutation_p.P520L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.P374L NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 520 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GGGAATACTCCAGAGTGGAAT 0.398000 36 28 0 0 0.007291 0 0 XKR4 114786 broad.mit.edu 37 8 56015094 56015094 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:56015094G>A uc003xsf.3 + 0 78 c.46G>A c.(46-48)Gac>Aac p.D16N NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 16 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) GAAAAGCAGCGACGTGGCGTT 0.627000 14 14 0 0 0.002450 0 0 OR5J2 282775 broad.mit.edu 37 11 55944228 55944228 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:55944228G>A uc010rjb.2 + 0 135 c.135G>A c.(133-135)atG>atA p.M45I NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA. 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) ATCTGGGCATGATCCTCTTAA 0.418000 78 69 0 0 0.014410 0 0 KLHL24 54800 broad.mit.edu 37 3 183381313 183381313 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:183381313C>T uc003flv.3 + 3 1283 c.988C>T c.(988-990)Cca>Tca p.P330S KLHL24_uc003flw.3_Missense_Mutation_p.P330S|KLHL24_uc003flx.3_Missense_Mutation_p.P330S NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA. 330 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) ATTTAATCTTCCATACACTGA 0.398000 41 24 0 0 0.009535 0 0 C10orf129 142827 broad.mit.edu 37 10 96970436 96970436 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:96970436G>A uc001kke.3 + 4 766 c.641G>A c.(640-642)aGg>aAg p.R214K C10orf129_uc009xuu.1_Missense_Mutation_p.R124K NM_207321 NP_997204 Q6P461 ACSM6_HUMAN Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA. 214 fatty acid metabolic process mitochondrion ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) ACCTACATGAGGACCAAAAGC 0.478000 29 25 0 0 0.005443 0 0 NAA40 79829 broad.mit.edu 37 11 63721833 63721833 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:63721833C>T uc009yoz.3 + 7 723 c.596C>T c.(595-597)cCc>cTc p.P199L NAA40_uc010rmw.2_Missense_Mutation_p.P159L|NAA40_uc010rmx.2_Missense_Mutation_p.P178L|NAA40_uc010rmy.2_Non-coding_Transcript NM_024771 NP_079047 Q86UY6 NAA40_HUMAN Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA. 199 N-acetyltransferase. N-acetyltransferase activity NS(1)|endometrium(1)|lung(2)|prostate(1) 5 GACTCTTCCCCCAGCATGTCC 0.582000 24 12 0 0 0.013537 0 0 EPPK1 83481 broad.mit.edu 37 8 144945250 144945250 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:144945250G>A uc003zaa.1 - 0 2185 c.2172C>T c.(2170-2172)atC>atT p.I724I NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 724 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGCCCGTGGCGATCTGGGCCT 0.662000 60 28 0 0 0.004656 0 0 GRM3 2913 broad.mit.edu 37 7 86468384 86468384 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:86468384G>A uc003uid.3 + 3 2653 c.1554G>A c.(1552-1554)atG>atA p.M518I GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.M390I|GRM3_uc010leh.3_Missense_Mutation_p.M110I NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 518 synaptic transmission integral to plasma membrane p.M518I(2)|p.E517K(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCAATGAAATGAAGAATATGC 0.522000 50 30 0 0 0.007291 0 0 ZNF71 58491 broad.mit.edu 37 19 57134054 57134054 + Nonsense_Mutation SNP C T T rs145277321 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:57134054C>T uc002qnm.4 + 2 1637 c.1399C>T c.(1399-1401)Cga>Tga p.R467* ZNF71_uc021vcg.1_Nonsense_Mutation_p.R467* NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN Homo sapiens zinc finger protein 71 (ZNF71), mRNA. 467 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R467Q(1) endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GAAGCCCTACCGATGCGGCGA 0.647000 41 15 0 0 0.004007 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47365968 47365968 + RNA SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:47365968G>A uc001cqo.1 - 0 c.180C>T CYP4Z2P_uc009vyn.1_Non-coding_Transcript Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA. GGGGGTGCAGGAAACAGGTGC 0.488000 31 13 0 0 0.006122 0 0 KEL 3792 broad.mit.edu 37 7 142655421 142655421 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:142655421C>T uc003wcb.3 - 4 705 c.495G>A c.(493-495)ggG>ggA p.G165G NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 165 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GGGGACCAGTCCCTGCAGCTT 0.488000 82 32 0 0 0.012213 0 0 MYO16 23026 broad.mit.edu 37 13 109817354 109817354 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:109817354C>T uc010agk.2 + 32 5892 c.5270C>T c.(5269-5271)tCt>tTt p.S1757F MYO16_uc001vqt.1_Missense_Mutation_p.S1735F NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 1735 cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane ATP binding|actin filament binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ATTCAGTTATCTAATTCACTA 0.348000 17 21 0 0 0.014323 0 0 PTPRG 5793 broad.mit.edu 37 3 62177286 62177286 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:62177286G>A uc003dlb.3 + 8 1896 c.1177G>A c.(1177-1179)Gag>Aag p.E393K PTPRG_uc003dlc.3_Missense_Mutation_p.E393K NM_002841 NP_002832 P23470 PTPRG_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA. 393 Fibronectin type-III. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) GAATGAGGACGAGAAGGAGAA 0.542000 26 19 0 0 0.012319 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48897029 48897029 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:48897029G>A uc002rwp.2 + 8 3373 c.3259G>A c.(3259-3261)Gta>Ata p.V1087I STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.V1087I|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.V1040I|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.V383I|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.V349I NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 1040 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGATCTGAAGGTACCTGAAGA 0.403000 36 26 0 0 0.006320 0 0 SYT9 143425 broad.mit.edu 37 11 7439255 7439255 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:7439255G>A uc001mfe.3 + 4 1470 c.1233G>A c.(1231-1233)aaG>aaA p.K411K SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 411 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) CATCCACCAAGAGGAACACCT 0.468000 31 39 0 0 0.006230 0 0 SOAT2 8435 broad.mit.edu 37 12 53512693 53512693 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:53512693A>T uc001sbv.3 + 8 971 c.883A>T c.(883-885)Aat>Tat p.N295Y SOAT2_uc009zms.3_Intron NM_003578 NP_003569 O75908 SOAT2_HUMAN Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA. 295 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 O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 TGTCAGGTGGAATTATGTGGC 0.547000 51 29 0 0 0.005524 0 0 AK302306 0 broad.mit.edu 37 15 28600011 28600011 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:28600011G>A uc010uaf.1 - 3 249 c.231C>T c.(229-231)gcC>gcT p.A77A DQ595648_uc021sgj.1_5'Flank SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA; TTTGAACCTGGGCCTTTGGGA 0.483000 85 16 0 0 0.004990 0 0 MYH10 4628 broad.mit.edu 37 17 8508201 8508201 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:8508201C>T uc002glm.3 - 2 541 c.445G>A c.(445-447)Gag>Aag p.E149K MYH10_uc002gll.3_Missense_Mutation_p.E149K|MYH10_uc010cnx.3_Missense_Mutation_p.E149K NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 149 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GGAGGCATCTCATGACGCTTC 0.348000 46 30 0 0 0.003271 0 0 USP18 11274 broad.mit.edu 37 22 18644647 18644647 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:18644647G>A uc002zny.3 + 3 683 c.345G>A c.(343-345)caG>caA p.Q115Q NM_017414 NP_059110 Q9UMW8 UBP18_HUMAN Homo sapiens ubiquitin specific peptidase 18 (USP18), mRNA. 115 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1) 10 ACAGCCGGCAGAAAGCAGTGC 0.617000 23 13 0 0 0.001855 0 0 CNNM1 26507 broad.mit.edu 37 10 101122015 101122015 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:101122015G>A uc010qpi.2 + 3 2179 c.1890G>A c.(1888-1890)tcG>tcA p.S630S CNNM1_uc009xwe.3_Silent_p.S630S|CNNM1_uc001kpp.4_Silent_p.S630S|CNNM1_uc009xwf.3_Silent_p.S630S|CNNM1_uc009xwg.3_Silent_p.S30S NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN Homo sapiens cyclin M1 (CNNM1), mRNA. 630 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) TGTACCTTTCGGAGAAGATCC 0.537000 20 11 0 0 0.010729 0 0 OR10A6 390093 broad.mit.edu 37 11 7950061 7950061 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:7950061G>A uc010rbh.2 - 0 149 c.149C>T c.(148-150)tCc>tTc p.S50F NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTGGTCTAGGGAGACGATGAC 0.463000 58 46 0 0 0.014410 0 0 PCSK9 255738 broad.mit.edu 37 1 55518359 55518359 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:55518359G>A uc001cyf.2 + 4 1056 c.694G>A c.(694-696)Ggg>Agg p.G232R PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Non-coding_Transcript NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA. 232 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 CCACCTGGCAGGGGTGGTCAG 0.637000 176 119 0 0 0.014410 0 0 ZNF768 79724 broad.mit.edu 37 16 30536220 30536220 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:30536220G>A uc002dyk.4 - 1 1417 c.1241C>T c.(1240-1242)tCg>tTg p.S414L ZNF768_uc010vex.2_Missense_Mutation_p.S383L|ZNF768_uc010vew.2_Missense_Mutation_p.S383L NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN Homo sapiens zinc finger protein 768 (ZNF768), mRNA. 414 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding p.R413W(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GATAAGGGCCGACCGCTGGGA 0.652000 23 12 0 0 0.002450 0 0 FAM75E1 286234 broad.mit.edu 37 9 90497933 90497933 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:90497933G>A uc004app.4 + 0 162 c.127G>A c.(127-129)Gag>Aag p.E43K FAM75E1_uc004apo.1_Intron NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 43 integral to membrane ACTTCAGATGGAGAAAATGCT 0.567000 19 14 0 0 0.003163 0 0 DBC1 1620 broad.mit.edu 37 9 121930329 121930329 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:121930329C>T uc004bkc.2 - 7 1775 c.1319G>A c.(1318-1320)aGc>aAc p.S440N NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 440 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GTTGGCCAGGCTGCACATGGC 0.652000 11 4 0 0 0.009096 0 0 RYR3 6263 broad.mit.edu 37 15 34130072 34130072 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:34130072C>T uc001zhi.3 + 88 11961 c.11891C>T c.(11890-11892)tCg>tTg p.S3964L RYR3_uc010bar.3_Missense_Mutation_p.S3959L NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 3964 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTTCTCCTGTCGTGTGCAGAA 0.428000 59 42 0 0 0.011902 0 0 OR11L1 391189 broad.mit.edu 37 1 248004539 248004539 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:248004539G>A uc001idn.1 - 0 660 c.660C>T c.(658-660)ttC>ttT p.F220F NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA. 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGGACACAATGAAAACATAGG 0.488000 79 21 0 0 0.010504 0 0 BRI3BP 140707 broad.mit.edu 37 12 125509639 125509639 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:125509639C>T uc001uha.1 + 2 562 c.419C>T c.(418-420)tCc>tTc p.S140F DL490908_uc021rgk.1_5'Flank NM_080626 NP_542193 Q8WY22 BRI3B_HUMAN Homo sapiens BRI3 binding protein (BRI3BP), mRNA. 140 integral to membrane|mitochondrial outer membrane large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) TGGTTCTTGTCCCTGACCCTG 0.627000 39 29 0 0 0.008361 0 0 MXRA5 25878 broad.mit.edu 37 X 3239399 3239399 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:3239399G>A uc004crg.4 - 4 4484 c.4327C>T c.(4327-4329)Ctc>Ttc p.L1443F NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1443 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ATGCTTGAGAGAGTTGTGGAA 0.448000 5 20 0 0 0.008871 0 0 AIRE 326 broad.mit.edu 37 21 45711083 45711083 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:45711083G>A uc002zei.2 + 7 1112 c.985G>A c.(985-987)Gag>Aag p.E329K AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Missense_Mutation_p.E132K|AIRE_uc010gpr.2_Missense_Mutation_p.E132K NM_000383 NP_000374 O43918 AIRE_HUMAN Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA. 329 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) TCCGCTCCGGGAGATCCCCAG 0.697000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 15 10 0 0 0.001855 0 0 SYNJ2 8871 broad.mit.edu 37 6 158497676 158497676 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:158497676G>A uc003qqx.2 + 16 2417 c.2311G>A c.(2311-2313)Gaa>Aaa p.E771K SYNJ2_uc003qqw.2_Missense_Mutation_p.E771K|SYNJ2_uc003qqy.2_Missense_Mutation_p.E534K|SYNJ2_uc003qqz.2_Missense_Mutation_p.E388K|SYNJ2_uc003qra.2_Missense_Mutation_p.E114K NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 771 RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GGACTTTCACGAAGGAGCCAT 0.463000 13 28 0 0 0.013726 0 0 FHOD1 29109 broad.mit.edu 37 16 67264052 67264052 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:67264052C>T uc002esl.3 - 19 3243 c.3131G>A c.(3130-3132)cGg>cAg p.R1044Q FHOD1_uc010ced.3_Missense_Mutation_p.R851Q NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA. 1044 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AGCATCTCCCCGGCCTGGCCC 0.597000 63 29 0 0 0.009535 0 0 ZNF615 284370 broad.mit.edu 37 19 52496182 52496182 + Missense_Mutation SNP G T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:52496182G>T uc002pyf.2 - 6 2497 c.2180C>A c.(2179-2181)gCt>gAt p.A727D AK128361_uc021uys.1_Missense_Mutation_p.L90I|ZNF615_uc002pye.2_Missense_Mutation_p.A716D|ZNF615_uc002pyh.2_Missense_Mutation_p.A727D|ZNF615_uc010epi.2_Missense_Mutation_p.A723D|ZNF615_uc002pyg.2_Missense_Mutation_p.A608D|ZNF615_uc010ydg.2_Missense_Mutation_p.A721D NM_001199324 NP_001186253 Q8N8J6 ZN615_HUMAN Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA. 716 R -> K (in dbSNP:rs16983353). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R727K(1)|p.A727G(1)|p.A716G(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GTGCGCAAAAGCTTTCCCACA 0.438000 102 87 5.02053e-37 5.37042e-37 0.014410 1 0 ADAMTS6 11174 broad.mit.edu 37 5 64468685 64468685 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:64468685G>A uc003jtp.3 - 22 3875 c.3061C>T c.(3061-3063)Cgc>Tgc p.R1021C ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 1021 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R192C(1)|p.R1021C(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GTGACCCAGCGAGGAGGAGGG 0.557000 46 33 0 0 0.003271 0 0 LYPD4 147719 broad.mit.edu 37 19 42341400 42341400 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:42341400G>A uc002orp.1 - 4 1542 c.558C>T c.(556-558)ttC>ttT p.F186F LYPD4_uc002orq.1_Silent_p.F151F NM_173506 NP_775777 Q6UWN0 LYPD4_HUMAN Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA. 186 UPAR/Ly6. anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 CCATGAGGAGGAAGGTGGTAT 0.483000 75 42 0 0 0.013114 0 0 C12orf42 374470 broad.mit.edu 37 12 103695950 103695950 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:103695950C>T uc001tjt.2 - 5 1107 c.1019G>A c.(1018-1020)cGg>cAg p.R340Q C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.R340Q|C12orf42_uc001tju.2_Missense_Mutation_p.R245Q NM_198521 NP_940923 Q96LP6 CL042_HUMAN Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA. 340 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 ATGGAAACGCCGGGTTGGGCG 0.592000 69 25 0 0 0.010818 0 0 LCE1A 353131 broad.mit.edu 37 1 152800159 152800159 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:152800159C>T uc010pdw.2 + 0 211 c.211C>T c.(211-213)Cac>Tac p.H71Y NM_178348 NP_848125 Q5T7P2 LCE1A_HUMAN Homo sapiens late cornified envelope 1A (LCE1A), mRNA. 71 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGCCTGAGCCACCACAGGCG 0.692000 41 44 0 0 0.010771 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764235 92764235 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:92764235C>T uc003umh.1 - 4 2266 c.1050G>A c.(1048-1050)agG>agA p.R350R SAMD9L_uc003umj.1_Silent_p.R350R|SAMD9L_uc003umi.1_Silent_p.R350R|SAMD9L_uc010lfb.1_Silent_p.R350R|SAMD9L_uc003umk.1_Silent_p.R350R|SAMD9L_uc010lfc.1_Silent_p.R350R|SAMD9L_uc010lfd.1_Silent_p.R350R|SAMD9L_uc022ahh.1_Silent_p.R350R NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 350 p.S349F(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CCAGGATATCCCTAGAGCTAG 0.353000 78 66 0 0 0.014410 0 0 LAMP5 24141 broad.mit.edu 37 20 9496135 9496135 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:9496135G>A uc002wni.2 + 1 595 c.100G>A c.(100-102)Gaa>Aaa p.E34K LAMP5_uc010zrc.2_Missense_Mutation_p.E34K NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 34 integral to membrane ACAAGAAGTGGAAAATCTCTC 0.473000 47 28 0 0 0.006320 0 0 C2orf83 56918 broad.mit.edu 37 2 228476360 228476360 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:228476360G>A uc002vph.3 - 2 438 c.203C>T c.(202-204)tCt>tTt p.S68F C2orf83_uc010zlu.2_3'UTR NM_020161 NP_064546 Q53S99 CB083_HUMAN Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA. 68 membrane folic acid binding|reduced folate carrier activity p.P67L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2) 11 TAGTTTCTCAGATGGACTTAA 0.423000 26 24 0 0 0.005443 0 0 RNF125 54941 broad.mit.edu 37 18 29625679 29625679 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:29625679C>T uc002kxf.1 + 3 870 c.488C>T c.(487-489)tCg>tTg p.S163L NM_017831 NP_060301 Q96EQ8 RN125_HUMAN Homo sapiens ring finger protein 125 (RNF125), mRNA. 163 negative regulation of type I interferon production intracellular ligase activity|zinc ion binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 CATCACAGATCGGAACGGAGG 0.368000 60 31 0 0 0.004289 0 0 MUC3A 4584 broad.mit.edu 37 7 100551575 100551575 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:100551575G>A uc003uxl.1 + 0 826 c.26G>A c.(25-27)aGa>aAa p.R9K MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ATGACCCTCAGAATTACTGAG 0.488000 147 101 0 0 0.014410 0 0 FKBP4 2288 broad.mit.edu 37 12 2909631 2909631 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:2909631C>T uc001qkz.3 + 7 1118 c.920C>T c.(919-921)tCc>tTc p.S307F NM_002014 NP_002005 Q02790 FKBP4_HUMAN Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA. 307 Interaction with tubulin (By similarity). negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) TCTAGTTTTTCCAATGAGGAA 0.483000 18 10 0 0 0.008291 0 0 CCDC83 220047 broad.mit.edu 37 11 85606418 85606418 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:85606418G>A uc001pbg.1 + 5 1106 c.594G>A c.(592-594)tgG>tgA p.W198* CCDC83_uc001pbh.1_Nonsense_Mutation_p.W198*|CCDC83_uc001pbj.1_Nonsense_Mutation_p.W99*|CCDC83_uc001pbi.1_Non-coding_Transcript NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA. 198 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AGAAGGAATGGGCCACACAGG 0.294000 8 20 0 0 0.003954 0 0 MEGF8 1954 broad.mit.edu 37 19 42867222 42867222 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:42867222C>T uc002otl.4 + 33 6515 c.5880C>T c.(5878-5880)tcC>tcT p.S1960S MEGF8_uc002otm.4_Silent_p.S1568S NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 2027 PSI 5. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GCATCCTCTCCGTGCAGCCCA 0.652000 14 6 0 0 0.008291 0 0 LRRC25 126364 broad.mit.edu 37 19 18507677 18507678 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:18507677_18507678CC>TT uc002niw.3 - 0 738_739 c.96_97GG>AA c.(94-99)gtggac>gtAAac p.D33N LRRC25_uc002nix.3_Missense_Mutation_p.D33N NM_145256 NP_660299 Q8N386 LRC25_HUMAN Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA. 33 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|skin(1) 8 GCGTTCCAGTCCACATCCGCGG 0.624000 23 10 0 0 0.004672 0 0 HMCN1 83872 broad.mit.edu 37 1 186014957 186014957 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:186014957C>T uc001grq.1 + 40 6671 c.6442C>T c.(6442-6444)Cca>Tca p.P2148S NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 2148 Ig-like C2-type 19. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GCTGAAGAAACCAGGCCTCAG 0.383000 47 12 0 0 0.013537 0 0 PMF1-BGLAP 100527963 broad.mit.edu 37 1 156203421 156203421 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:156203421G>A uc021pbb.1 + 2 298 c.270G>A c.(268-270)gaG>gaA p.E90E PMF1-BGLAP_uc009wru.2_Non-coding_Transcript|PMF1-BGLAP_uc001fnr.3_Silent_p.E90E|PMF1-BGLAP_uc001fnq.3_Silent_p.E90E|PMF1-BGLAP_uc021pba.1_Silent_p.E92E|PMF1-BGLAP_uc021pbc.1_Silent_p.E90E|PMF1-BGLAP_uc001fns.2_Silent_p.E90E|PMF1-BGLAP_uc021pbd.1_Intron NM_001199661 NP_001186590 Q6P1K2 PMF1_HUMAN Homo sapiens PMF1-BGLAP readthrough (PMF1-BGLAP), transcript variant 1, mRNA. 90 cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter MIS12/MIND type complex|cytosol|transcription factor complex leucine zipper domain binding|transcription coactivator activity CTCTTCAGGAGGAAATCTCTG 0.443000 233 60 0 0 0.014410 0 0 TM4SF20 79853 broad.mit.edu 37 2 228228526 228228526 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:228228526C>T uc002vpb.2 - 3 642 c.604G>A c.(604-606)Gag>Aag p.E202K NM_024795 NP_079071 Q53R12 T4S20_HUMAN Homo sapiens transmembrane 4 L six family member 20 (TM4SF20), mRNA. 202 integral to membrane|plasma membrane breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2) 10 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) AACAGGACCTCCAGAATTCCA 0.418000 58 41 0 0 0.009718 0 0 DVL1 1855 broad.mit.edu 37 1 1271705 1271705 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:1271705C>T uc001aer.4 - 14 1877 c.1830G>A c.(1828-1830)tcG>tcA p.S610S DVL1_uc009vka.3_Silent_p.S293S|DVL1_uc002quu.3_Silent_p.S352S|DVL1_uc001aeu.1_3'UTR NM_004421 NP_004412 O14640 DVL1_HUMAN Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA. 635 Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGGCGGTAGCCGAGGCCTGAC 0.746000 12 9 0 0 0.006214 0 0 EHD1 10938 broad.mit.edu 37 11 64622297 64622297 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:64622297G>A uc010rnq.1 - 5 1202 c.1155C>T c.(1153-1155)ttC>ttT p.F385F EHD1_uc021qkz.1_Silent_p.F54F|EHD1_uc001obu.1_Silent_p.F371F|EHD1_uc001obv.1_Silent_p.F371F NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN Homo sapiens EH-domain containing 1 (EHD1), mRNA. 371 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 TCAGCGCCTGGAACTTGCTGA 0.637000 140 122 0 0 0.014410 0 0 SUCNR1 56670 broad.mit.edu 37 3 151599155 151599155 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:151599155C>T uc003ezf.2 + 2 929 c.824C>T c.(823-825)tCc>tTc p.S275F NM_033050 NP_149039 Q9BXA5 SUCR1_HUMAN Homo sapiens succinate receptor 1 (SUCNR1), mRNA. 275 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.S275F(2) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) GTCATCAACTCCTTTTACATT 0.473000 77 61 0 0 0.014410 0 0 ZNF786 136051 broad.mit.edu 37 7 148768906 148768906 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:148768906G>A uc003wfh.2 - 3 1095 c.958C>T c.(958-960)Cgg>Tgg p.R320W ZNF786_uc011kuk.1_Missense_Mutation_p.R283W|ZNF786_uc003wfi.2_Missense_Mutation_p.R234W NM_152411 NP_689624 Q8N393 ZN786_HUMAN Homo sapiens zinc finger protein 786 (ZNF786), mRNA. 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R319R(1) breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGCCCCTCCCGGCTGTGCTGG 0.721000 5 3 0 0 0.009096 0 0 ANXA7 310 broad.mit.edu 37 10 75143041 75143041 + Silent SNP G A A rs139287762 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:75143041G>A uc001jtz.2 - 9 949 c.876C>T c.(874-876)atC>atT p.I292I ANXA7_uc001jua.2_Silent_p.I270I|ANXA7_uc010qki.1_Silent_p.I180I|ANXA7_uc009xre.3_Silent_p.I199I|ANXA7_uc009xrf.1_Silent_p.I212I NM_004034 NP_004025 P20073 ANXA7_HUMAN Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA. 292 calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 26 Prostate(51;0.0119) CAATTTCTCGGATTTCCTGAT 0.378000 23 6 0 0 0.001168 0 0 ZNF644 84146 broad.mit.edu 37 1 91382389 91382389 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:91382389G>A uc001dnw.3 - 5 4233 c.3950C>T c.(3949-3951)tCa>tTa p.S1317L ZNF644_uc001dnv.3_Missense_Mutation_p.S95L|ZNF644_uc001dnx.3_Missense_Mutation_p.S95L NM_201269 NP_958357 Q9H582 ZN644_HUMAN Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA. 1317 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TAGAGAAAATGAAGTTTCTGT 0.383000 28 20 0 0 0.007413 0 0 SEC16A 9919 broad.mit.edu 37 9 139371911 139371911 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:139371911C>T uc004chx.3 - 2 466 c.157G>A c.(157-159)Gat>Aat p.D53N SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.D53N|SEC16A_uc010nbn.3_Missense_Mutation_p.D53N|SEC16A_uc010nbo.1_Missense_Mutation_p.D53N NM_014866 NP_055681 O15027 SC16A_HUMAN Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA. 2020 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GCAAATGGATCCGTGACCGGC 0.567000 33 16 0 0 0.004007 0 0 DDX26B 203522 broad.mit.edu 37 X 134706945 134706945 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:134706945G>A uc004eyw.4 + 10 1856 c.1493G>A c.(1492-1494)gGg>gAg p.G498E DDX26B_uc004eyx.4_Missense_Mutation_p.G99E NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA. 498 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) TTCCAAATTGGGCTCTTAAAC 0.308000 4 13 0 0 0.001855 0 0 NOS3 4846 broad.mit.edu 37 7 150699372 150699372 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:150699372G>A uc003wif.3 + 13 2028 c.1732G>A c.(1732-1734)Gat>Aat p.D578N NOS3_uc011kuy.2_Missense_Mutation_p.D372N|NOS3_uc011kva.2_Missense_Mutation_p.D578N|NOS3_uc011kuz.2_Missense_Mutation_p.D578N|NOS3_uc011kvb.2_Missense_Mutation_p.D578N NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 578 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia Golgi membrane|caveola|cytoskeleton|cytosol FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TGGGAATGGGGATCCCCCGGA 0.562000 8 6 0 0 0.001984 0 0 SGK223 157285 broad.mit.edu 37 8 8185920 8185920 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:8185920G>A uc003wsh.4 - 3 2372 c.2372C>T c.(2371-2373)cCc>cTc p.P791L NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 791 ATP binding|non-membrane spanning protein tyrosine kinase activity AAACGGAACGGGAGCAAAGAG 0.607000 17 17 0 0 0.004007 0 0 TDRKH 11022 broad.mit.edu 37 1 151755429 151755429 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:151755429G>A uc009wnb.1 - 1 252 c.70C>T c.(70-72)Cca>Tca p.P24S TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.P24S|TDRKH_uc001ezc.4_Missense_Mutation_p.P24S|TDRKH_uc001eza.4_Missense_Mutation_p.P24S|TDRKH_uc001ezd.4_Missense_Mutation_p.P24S|TDRKH_uc010pdn.1_5'UTR NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA. 24 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCACTGGCTGGGATCCCAAGG 0.468000 134 99 0 0 0.014410 0 0 CLU 1191 broad.mit.edu 37 8 27462448 27462448 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:27462448G>A uc003xfy.2 - 4 1002 c.855C>T c.(853-855)ttC>ttT p.F285F CLU_uc003xfw.2_Silent_p.F274F|CLU_uc003xfx.2_Silent_p.F274F|CLU_uc003xfz.2_Silent_p.F274F NM_001831 NP_001822 P10909 CLUS_HUMAN Homo sapiens clusterin (CLU), transcript variant 1, mRNA. 274 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) CACCTCGTATGAATTCTGTTG 0.547000 72 56 0 0 0.014410 0 0 SNRNP200 23020 broad.mit.edu 37 2 96956442 96956442 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:96956442C>T uc002svu.3 - 18 2665 c.2533G>A c.(2533-2535)Gga>Aga p.G845R NM_014014 NP_054733 O75643 U520_HUMAN Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA. 845 Helicase C-terminal 1. U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TCCAGTGCTCCCAGTTCTGTC 0.507000 79 62 0 0 0.014410 0 0 SNAP91 9892 broad.mit.edu 37 6 84303409 84303409 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:84303409A>G uc021zcf.1 - 16 1514 c.1484T>C c.(1483-1485)cTc>cCc p.L495P SNAP91_uc011dzd.2_5'UTR|SNAP91_uc003pka.3_Missense_Mutation_p.L493P|SNAP91_uc011dze.2_Missense_Mutation_p.L493P|SNAP91_uc003pkc.3_Missense_Mutation_p.L493P|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.L458P NM_014841 NP_055656 O60641 AP180_HUMAN Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA. 495 Ala-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) CATTGCAAAGAGGTCCAGCTC 0.547000 5 19 0 0 0.007413 0 0 GANC 2595 broad.mit.edu 37 15 42619583 42619583 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:42619583C>T uc001zpi.3 + 12 1757 c.1443C>T c.(1441-1443)ttC>ttT p.F481F NM_198141 NP_937784 Q8TET4 GANC_HUMAN Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA. 481 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) ACCTGGATTTCACCAATCCCA 0.423000 91 72 0 0 0.014410 0 0 ACAN 176 broad.mit.edu 37 15 89401231 89401231 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:89401231C>T uc010upo.1 + 11 5789 c.5415C>T c.(5413-5415)ttC>ttT p.F1805F ACAN_uc010upp.1_Silent_p.F1805F|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1805 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TACCAGGGTTCAGTGGGGCAA 0.512000 26 16 0 0 0.004990 0 0 TTN 7273 broad.mit.edu 37 2 179542444 179542444 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179542444G>A uc021vsy.1 - 142 30688 c.30463C>T c.(30463-30465)Cct>Tct p.P10155S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6816S|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11082 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTCGGGAGGAACTTCCTCT 0.448000 67 49 0 0 0.014410 0 0 CCDC164 92749 broad.mit.edu 37 2 26667734 26667734 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:26667734G>A uc002rhg.2 + 9 1388 c.1314G>A c.(1312-1314)tgG>tgA p.W438* CCDC164_uc010eym.1_Non-coding_Transcript NM_145038 NP_659475 Q96MC2 CC164_HUMAN Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA. 438 cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1) 35 ctgatttctggttcctgaaca 0.512000 26 19 0 0 0.008871 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278390 36278390 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:36278390A>G uc002obs.2 + 20 2584 c.2440A>G c.(2440-2442)Agt>Ggt p.S814G ARHGAP33_uc002obt.2_Missense_Mutation_p.S839G|ARHGAP33_uc002obv.1_Missense_Mutation_p.S563G NM_052948 NP_443180 O14559 RHG33_HUMAN Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA. 900 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 AAGGCAACAAAGTGATGGGAG 0.692000 11 8 0 0 0.003080 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540495 169540495 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:169540495C>T uc003fgb.3 + 0 786 c.786C>T c.(784-786)atC>atT p.I262I NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA. 262 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TGACGGAAATCGGGCTGAGCG 0.607000 21 14 0 0 0.001855 0 0 CYP3A7 1551 broad.mit.edu 37 7 99270254 99270254 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:99270254C>T uc003urq.3 - 3 369 c.267G>A c.(265-267)gtG>gtA p.V89V ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_Silent_p.V79V|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Silent_p.V89V NM_000777 NP_000768 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA. 89 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.D88N(1) autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) CTGTTCTGATCACGTCGGGAT 0.423000 98 76 0 0 0.014410 0 0 ASXL1 171023 broad.mit.edu 37 20 31024037 31024038 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:31024037_31024038GG>AA uc021wbw.1 + 12 3954_3955 c.3522_3523GG>AA c.(3520-3525)aaggag>aaAAag p.E1175K ASXL1_uc002wxs.3_Missense_Mutation_p.E1174K|ASXL1_uc010geb.3_Missense_Mutation_p.E1066K NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA. 1175 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.(574_1542)fs*?(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 GGGCTTTGAAGGAGCCTCTTCT 0.535000 """F, N, Mis""" """MDS, CMML""" 32 24 0 0 0.004672 0 0 ARVCF 421 broad.mit.edu 37 22 19965018 19965018 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:19965018G>A uc002zqz.3 - 8 2060 c.1790C>T c.(1789-1791)cCc>cTc p.P597L ARVCF_uc002zqy.3_Missense_Mutation_p.P119L NM_001670 NP_001661 O00192 ARVC_HUMAN Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA. 597 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) CAGGGGCCCGGGCTCGGCCTC 0.677000 46 30 0 0 0.009535 0 0 SIDT1 54847 broad.mit.edu 37 3 113285282 113285282 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:113285282G>A uc021xcn.1 + 1 889 c.238G>A c.(238-240)Gtg>Atg p.V80M SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.V80M|SIDT1_uc011big.2_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA. 80 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 AGCCGTGAGGGTGTATGTGAA 0.512000 49 28 0 0 0.010818 0 0 OR13C8 138802 broad.mit.edu 37 9 107331717 107331717 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:107331717A>T uc011lvo.2 + 0 269 c.269A>T c.(268-270)aAa>aTa p.K90I NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 GCAGTAAAGAAAAAGGTTTCC 0.468000 88 60 0 0 0.014410 0 0 WSCD2 9671 broad.mit.edu 37 12 108589759 108589759 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:108589759G>A uc001tms.3 + 1 894 c.150G>A c.(148-150)gcG>gcA p.A50A WSCD2_uc001tmt.3_Silent_p.A50A NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 50 integral to membrane p.A50A(2) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GGAACCAGGCGAACCCCGCTG 0.607000 89 54 0 0 0.014410 0 0 MATN1 4146 broad.mit.edu 37 1 31194271 31194271 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:31194271C>T uc001brz.3 - 1 456 c.422G>A c.(421-423)aGg>aAg p.R141K LOC100129196_uc001bsb.1_Non-coding_Transcript NM_002379 NP_002370 P21941 MATN1_HUMAN Homo sapiens matrilin 1, cartilage matrix protein (MATN1), mRNA. 141 VWFA 1. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) GTCAGGGGACCTGGAACGACC 0.607000 87 50 0 0 0.014410 0 0 CXXC1 30827 broad.mit.edu 37 18 47811394 47811394 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:47811394C>T uc002leq.4 - 6 1623 c.890G>A c.(889-891)gGg>gAg p.G297E CXXC1_uc002lep.4_Missense_Mutation_p.G154E|CXXC1_uc002ler.4_Missense_Mutation_p.G297E|CXXC1_uc010doy.3_Missense_Mutation_p.G297E NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA. 297 Asp/Glu-rich (acidic). histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Set1C/COMPASS complex|nuclear speck protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 ATCAAAGGCCCCTGCACAGAA 0.552000 40 27 0 0 0.003954 0 0 CCDC74B 91409 broad.mit.edu 37 2 130899720 130899720 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:130899720G>A uc010yzw.1 - 1 1580 c.836C>T c.(835-837)tCc>tTc p.S279F CCDC74B_uc002tqm.1_Missense_Mutation_p.S177F|CCDC74B_uc002tqn.1_Missense_Mutation_p.S111F|CCDC74B_uc010yzx.1_3'UTR Q96LY2 CC74B_HUMAN Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA. 177 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) ATTAGAGATGGACTTGACAGA 0.642000 25 10 0 0 0.010729 0 0 DHX34 9704 broad.mit.edu 37 19 47858389 47858389 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:47858389G>A uc010xyn.2 + 2 1148 c.799G>A c.(799-801)Gaa>Aaa p.E267K DHX34_uc010elc.1_Missense_Mutation_p.E267K NM_014681 NP_055496 Q14147 DHX34_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA. 267 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AATCCAGCGGGAACCCAGCCT 0.597000 43 31 0 0 0.010818 0 0 LIPI 149998 broad.mit.edu 37 21 15561684 15561684 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:15561684C>T uc002yjm.3 - 1 176 c.166G>A c.(166-168)Gat>Aat p.D56N LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.D35N|LIPI_uc021whh.1_Missense_Mutation_p.D35N|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.D35N|LIPI_uc021whe.1_Missense_Mutation_p.D35N|LIPI_uc021whf.1_Missense_Mutation_p.D35N NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 35 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.D56D(1) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) ATAAATAAATCTCTGAAGGAA 0.353000 41 35 0 0 0.004289 0 0 TCN1 6947 broad.mit.edu 37 11 59629071 59629071 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:59629071G>A uc001noj.2 - 3 583 c.485C>T c.(484-486)tCa>tTa p.S162L NM_001062 NP_001053 P20061 TCO1_HUMAN Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA. 162 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTCGGCGGTTGAGTAGTTCCC 0.443000 44 43 0 0 0.009718 0 0 FAM179A 165186 broad.mit.edu 37 2 29234362 29234362 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:29234362C>T uc010ezl.3 + 6 1223 c.872C>T c.(871-873)tCt>tTt p.S291F FAM179A_uc010ymm.2_Missense_Mutation_p.S291F|FAM179A_uc002rmr.4_5'Flank NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 291 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ACCCCTGCATCTCTGGGTACG 0.537000 33 24 0 0 0.010818 0 0 SEC14L4 284904 broad.mit.edu 37 22 30890867 30890867 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:30890867C>T uc003aid.2 - 5 605 c.505G>A c.(505-507)Gag>Aag p.E169K SEC14L4_uc011akz.1_Missense_Mutation_p.E169K|SEC14L4_uc003aie.2_Missense_Mutation_p.E154K|SEC14L4_uc003aif.2_Missense_Mutation_p.E115K NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 169 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) TGGTAGACCTCCACAGCTGGC 0.582000 41 30 0 0 0.003271 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21542561 21542562 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:21542561_21542562CC>TT uc001vzp.3 + 2 701_702 c.672_673CC>TT c.(670-675)acccgg>acTTgg p.R225W ARHGEF40_uc001vzn.1_Missense_Mutation_p.R225W|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR NM_018071 NP_060541 Q8TER5 ARH40_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA. 225 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CGCTGGGTACCCGGAGTCCTGG 0.634000 8 7 0 0 0.004672 0 0 ABCD4 5826 broad.mit.edu 37 14 74759018 74759019 + Silent DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:74759018_74759019GG>AA uc001xpr.2 - 10 1241_1242 c.1089_1090CC>TT c.(1087-1092)atcctg>atTTtg p.363_364IL>IL ABCD4_uc001xps.2_Silent_p.204_205IL>IL|ABCD4_uc010tur.2_Silent_p.259_260IL>IL|ABCD4_uc001xpu.2_Silent_p.100_101IL>IL|ABCD4_uc001xpv.2_Non-coding_Transcript NM_005050 NP_005041 O14678 ABCD4_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA. 363 ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.E362*(1) cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) CTCTCGCCCAGGATCTCGCAGT 0.584000 54 25 0 0 0.004672 0 0 DOCK1 1793 broad.mit.edu 37 10 128824626 128824626 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:128824626C>T uc010qun.2 + 15 1626 c.1562C>T c.(1561-1563)cCc>cTc p.P521L DOCK1_uc001ljt.3_Missense_Mutation_p.P500L NM_001380 NP_001371 Q14185 DOCK1_HUMAN Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA. 500 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GTGGCCATTCCCATCGAGGAC 0.438000 3 3 0 0 0.009096 0 0 PYROXD2 84795 broad.mit.edu 37 10 100152760 100152760 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:100152760G>A uc001kpc.3 - 8 952 c.866C>T c.(865-867)gCc>gTc p.A289V PYROXD2_uc001kpb.3_Non-coding_Transcript NM_032709 NP_116098 Q8N2H3 PYRD2_HUMAN Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA. 289 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 ATCAGAGAGGGCACCCATGCC 0.597000 36 28 0 0 0.010818 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52004896 52004896 + Missense_Mutation SNP G A A rs150618212 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:52004896G>A uc002pwx.1 - 0 148 c.92C>T c.(91-93)tCc>tTc p.S31F SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA. 31 Ig-like V-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CACCGTCACGGACTTCTGCAT 0.572000 31 11 0 0 0.008291 0 0 KSR2 283455 broad.mit.edu 37 12 117962980 117962980 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:117962980G>A uc001two.2 - 13 1864 c.1809C>T c.(1807-1809)ttC>ttT p.F603F NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 632 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCATCTCCTCGAAGTCATCCT 0.597000 17 19 0 0 0.007413 0 0 MLL2 8085 broad.mit.edu 37 19 36219791 36219791 + Splice_Site SNP G T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:36219791G>T uc021usv.1 + 20 4687 c.4687_splice c.e20+1 p.A1563_splice MLL2_uc021usu.1_Splice_Site_p.A377_splice NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 762 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CCCTCAGCAGGTACTGGGAAG 0.602000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 21 16 4.7546e-09 5.04508e-09 0.004007 1 0 RBM27 54439 broad.mit.edu 37 5 145643114 145643114 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:145643114C>T uc003lnz.4 + 13 2417 c.2251C>T c.(2251-2253)Cgt>Tgt p.R751C RBM27_uc003lny.2_Missense_Mutation_p.R696C NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN Homo sapiens RNA binding motif protein 27 (RBM27), mRNA. 751 mRNA processing cytoplasm|nuclear speck RNA binding|nucleotide binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTTAAACATCGTCTTGGACA 0.418000 54 35 0 0 0.004878 0 0 UTRN 7402 broad.mit.edu 37 6 144801043 144801043 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:144801043C>T uc003qkt.3 + 24 3524 c.3432C>T c.(3430-3432)gcC>gcT p.A1144A UTRN_uc010khq.1_Silent_p.A1144A NM_007124 NP_009055 P46939 UTRO_HUMAN Homo sapiens utrophin (UTRN), mRNA. 1144 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TGACCCAGGCCGAGGAAGAAT 0.483000 15 25 0 0 0.004656 0 0 MAPK10 5602 broad.mit.edu 37 4 86950413 86950413 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:86950413C>T uc003hps.3 - 12 1875 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K MAPK10_uc010ikg.3_Missense_Mutation_p.E359K|MAPK10_uc003hpr.3_Missense_Mutation_p.E359K|MAPK10_uc003hpt.3_Missense_Mutation_p.E397K|MAPK10_uc003hpu.3_Missense_Mutation_p.E397K|MAPK10_uc003hpv.3_Missense_Mutation_p.E252K|MAPK10_uc003hpn.3_Missense_Mutation_p.E145K|MAPK10_uc011ccw.2_Missense_Mutation_p.E283K|MAPK10_uc003hpo.3_Missense_Mutation_p.E252K|MAPK10_uc003hpp.3_Missense_Mutation_p.E252K NM_138982 NP_620446 P53779 MK10_HUMAN Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA. 397 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) TTCATTACTTCCTTGTAGATA 0.333000 17 17 0 0 0.008871 0 0 FAM123C 205147 broad.mit.edu 37 2 131521567 131521567 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:131521567C>T uc021voy.1 + 0 1922 c.1922C>T c.(1921-1923)tCc>tTc p.S641F FAM123C_uc002trw.2_Missense_Mutation_p.S641F|FAM123C_uc010fmv.2_Missense_Mutation_p.S641F|FAM123C_uc010fms.1_Missense_Mutation_p.S641F|FAM123C_uc010fmt.1_Missense_Mutation_p.S641F|FAM123C_uc010fmu.1_Missense_Mutation_p.S641F NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 641 p.S641S(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) TGGCCCTGCTCCCAGAAGGAG 0.592000 12 15 0 0 0.002450 0 0 FAM69B 138311 broad.mit.edu 37 9 139616459 139616459 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:139616459C>T uc004cik.3 + 2 379 c.285C>T c.(283-285)ctC>ctT p.L95L FAM69B_uc004cil.3_Silent_p.L8L|SNHG7_uc004cim.2_Non-coding_Transcript NM_152421 NP_689634 Q5VUD6 FA69B_HUMAN Homo sapiens family with sequence similarity 69, member B (FAM69B), mRNA. 95 endoplasmic reticulum membrane|integral to membrane NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1) 8 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) GGACCTGCCTCTCGGTGGCCC 0.657000 26 17 0 0 0.004007 0 0 GP1BA 2811 broad.mit.edu 37 17 4836950 4836950 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:4836950G>A uc021tnz.1 + 1 1126 c.1051G>A c.(1051-1053)Gag>Aag p.E351K GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Missense_Mutation_p.E351K NM_000173 NP_000164 E7ES66 E7ES66_HUMAN Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA. 351 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 ATCCACTAAGGAGCAGACCAC 0.488000 85 90 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13766106 13766106 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:13766106C>T uc003jfd.2 - 58 10122 c.10080G>A c.(10078-10080)ggG>ggA p.G3360G DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3360 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTAAAAAGTTCCCTGCAGTCA 0.428000 Kartagener syndrome 65 40 0 0 0.009718 0 0 NF1 4763 broad.mit.edu 37 17 29654857 29654858 + Splice_Site DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:29654857_29654858GG>AA uc002hgg.3 + 38 5992 c.5609_splice c.e38+1 p.R1870_splice NF1_uc002hgh.3_Splice_Site_p.R1849_splice|NF1_uc002hgi.1_Splice_Site_p.R882_splice|NF1_uc010cso.3_Splice_Site_p.R58_splice NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1870 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4)|p.S1871fs*13(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCGAGTTTACGGTAGGTTTTTT 0.376000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 35 19 0 0 0.004672 0 0 KLHL1 57626 broad.mit.edu 37 13 70281842 70281842 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:70281842C>T uc001vip.3 - 9 2896 c.2102G>A c.(2101-2103)aGa>aAa p.R701K KLHL1_uc010thm.2_Missense_Mutation_p.R640K NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA. 701 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AGCATATAATCTGTCACCAAG 0.438000 26 19 0 0 0.006122 0 0 ZNF578 147660 broad.mit.edu 37 19 53013881 53013881 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:53013881G>A uc002pzp.4 + 5 491 c.247G>A c.(247-249)Gaa>Aaa p.E83K NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AGGCAATACAGAAGTGATCCA 0.378000 95 64 0 0 0.014410 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736281 12736281 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:12736281G>A uc004cuz.2 + 15 3842 c.3336G>A c.(3334-3336)ggG>ggA p.G1112G FRMPD4_uc011mij.2_Silent_p.G1104G NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA. 1112 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CAGCAACAGGGAAAACCTTTC 0.507000 11 71 0 0 0.014410 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433254 72433255 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:72433254_72433255GG>AA uc004ebi.3 - 0 1456_1457 c.1074_1075CC>TT c.(1072-1077)atccga>atTTga p.R359* NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA. 359 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) GTTACAGTTCGGATTGTTCCCC 0.371000 7 27 0 0 0.004672 0 0 SDK1 221935 broad.mit.edu 37 7 4153058 4153059 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:4153058_4153059GG>AA uc003smx.3 + 23 3711_3712 c.3572_3573GG>AA c.(3571-3573)cgg>cAA p.R1191Q SDK1_uc010kso.3_Missense_Mutation_p.R467Q NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1191 Fibronectin type-III 6. cell adhesion integral to membrane p.R1191W(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACCAGCCTGCGGCTTCGCTGGG 0.639000 76 51 0 0 0.004672 0 0 RNFT1 51136 broad.mit.edu 37 17 58034687 58034687 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:58034687G>A uc002iya.3 - 5 996 c.903C>T c.(901-903)ccC>ccT p.P301P RNFT1_uc002iyb.3_Non-coding_Transcript|RNFT1_uc002iyc.3_Silent_p.P39P NM_016125 NP_057209 Q5M7Z0 RNFT1_HUMAN Homo sapiens ring finger protein, transmembrane 1 (RNFT1), mRNA. 301 integral to membrane zinc ion binding large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) AAACTGGTATGGGAACAAAAG 0.368000 42 28 0 0 0.008361 0 0 KIAA0319 9856 broad.mit.edu 37 6 24563739 24563739 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:24563739C>T uc011djo.2 - 15 2939 c.2439G>A c.(2437-2439)agG>agA p.R813R KIAA0319_uc011djp.2_Silent_p.R768R|KIAA0319_uc003neh.1_Silent_p.R813R|KIAA0319_uc011djq.1_Silent_p.R804R|KIAA0319_uc011djr.1_Silent_p.R813R|KIAA0319_uc010jpt.1_Silent_p.R224R NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 813 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GGCCACTCTTCCTAGGGTCTG 0.537000 1 21 0 0 0.002780 0 0 TSC1 7248 broad.mit.edu 37 9 135802642 135802642 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:135802642G>A uc004cca.2 - 3 390 c.156C>T c.(154-156)acC>acT p.T52T TSC1_uc004ccb.3_Silent_p.T52T|TSC1_uc011mcq.1_Silent_p.T52T|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_Intron|TSC1_uc004ccc.1_Silent_p.T52T|TSC1_uc004cce.1_Silent_p.T52T NM_000368 NP_000359 Q92574 TSC1_HUMAN Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA. 52 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly TSC1-TSC2 complex|cell cortex|lamellipodium|membrane chaperone binding|protein N-terminus binding NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GCTGAGAGCTGGTTTCCAGGT 0.433000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 20 23 0 0 0.007291 0 0 RUFY2 55680 broad.mit.edu 37 10 70105617 70105617 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:70105617C>T uc001job.3 - 17 2161 c.1834G>A c.(1834-1836)Gaa>Aaa p.E612K RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joa.3_Missense_Mutation_p.E167K NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA. 626 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 AAAGGTAGTTCGTTGTCAGAG 0.403000 87 57 0 0 0.014410 0 0 ALB 213 broad.mit.edu 37 4 74274439 74274439 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:74274439C>T uc003hgs.4 + 3 472 c.399C>T c.(397-399)aaC>aaT p.N133N ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Silent_p.N23N NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 133 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AAGATGACAACCCAAACCTCC 0.418000 18 14 0 0 0.004990 0 0 MUC3A 4584 broad.mit.edu 37 7 100552243 100552243 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:100552243C>T uc003uxl.1 + 0 1494 c.694C>T c.(694-696)Cct>Tct p.P232S MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TACCATAGTCCCTGCCTCTCC 0.478000 246 52 0 0 0.014410 0 0 SLC18A2 6571 broad.mit.edu 37 10 119026272 119026272 + Silent SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:119026272T>C uc001ldd.2 + 10 1183 c.1020T>C c.(1018-1020)tcT>tcC p.S340S SLC18A2_uc009xyy.2_Silent_p.S137S NM_003054 NP_003045 Q05940 VMAT2_HUMAN Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA. 340 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CTAGTATCTCTTATCTCATTG 0.348000 105 68 0 0 0.014410 0 0 LAMA5 3911 broad.mit.edu 37 20 60900498 60900498 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:60900498C>T uc002ycq.3 - 40 5470 c.5403G>A c.(5401-5403)caG>caA p.Q1801Q LAMA5_uc021wfw.1_Silent_p.Q1801Q NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 1801 Laminin IV type A. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCGAGGAGATCTGTGAGAAGA 0.662000 20 17 0 0 0.007413 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559378 44559378 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:44559378C>T uc002lcr.1 - 0 2611 c.2258G>A c.(2257-2259)cGa>cAa p.R753Q KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron|TCEB3C_uc010xdb.2_5'Flank NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 753 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTGAGTTTATCGTCGGGAGAA 0.537000 72 45 0 0 0.014410 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140783321 140783321 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:140783321G>A uc003lkh.2 + 0 802 c.802G>A c.(802-804)Gac>Aac p.D268N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.D268N NM_018921 NP_061744 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA. 268 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACAGCCAGCGACCTGGATGA 0.438000 45 33 0 0 0.013726 0 0 C1QL2 165257 broad.mit.edu 37 2 119915271 119915272 + Missense_Mutation DNP GT AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:119915271_119915272GT>AA uc002tlo.2 - 0 1200_1201 c.574_575AC>TT c.(574-576)acg>TTg p.T192L NM_182528 NP_872334 Q7Z5L3 C1QL2_HUMAN Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA. 192 C1q. collagen NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1) 7 GAACTTGCCCGTGGTGGGGTCA 0.594000 HNSCC(49;0.14) 26 6 0 0 0.004672 0 0 GLRA3 8001 broad.mit.edu 37 4 175603979 175603979 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:175603979C>T uc003ity.1 - 5 1189 c.686G>A c.(685-687)cGa>cAa p.R229Q GLRA3_uc003itz.1_Missense_Mutation_p.R229Q NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 229 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.R229P(2) endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) AGTGCAGTATCGTAAATCTTT 0.373000 8 18 0 0 0.008871 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883880 19883880 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:19883880G>A uc010vav.2 - 1 597 c.366C>T c.(364-366)caC>caT p.H122H GPRC5B_uc021tef.1_Silent_p.H88H|GPRC5B_uc002dgt.3_Silent_p.H96H NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA. 96 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GGAACAGAAAGTGGAGGCCCA 0.622000 22 15 0 0 0.004007 0 0 TRPM5 29850 broad.mit.edu 37 11 2434128 2434128 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:2434128C>T uc010qxl.2 - 14 2220 c.2211G>A c.(2209-2211)ggG>ggA p.G737G TRPM5_uc001lwm.4_Silent_p.G737G|TRPM5_uc009ydn.3_Silent_p.G739G NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 737 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TGACCACGTTCCCCAGGAACA 0.662000 210 159 0 0 0.014410 0 0 LRBA 987 broad.mit.edu 37 4 151203626 151203626 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:151203626C>T uc010ipj.3 - 55 8569 c.8325G>A c.(8323-8325)acG>acA p.T2775T LRBA_uc010ipi.3_Silent_p.T297T|LRBA_uc003ils.4_Silent_p.T670T|LRBA_uc003ilt.4_Silent_p.T1423T|LRBA_uc003ilu.4_Silent_p.T2763T|LRBA_uc003ilr.4_Silent_p.T195T NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 2775 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CTGTTTCCATCGTGGCCTGGA 0.468000 66 40 0 0 0.009718 0 0 RCN1 5954 broad.mit.edu 37 11 32126010 32126010 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:32126010G>A uc010reb.2 + 5 1254 c.988G>A c.(988-990)Gag>Aag p.E330K RCN1_uc021qfp.1_Missense_Mutation_p.E164K|RCN1_uc001mtk.3_Missense_Mutation_p.E164K NM_002901 NP_002892 Q15293 RCN1_HUMAN Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA. 330 endoplasmic reticulum lumen calcium ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6) 17 Lung SC(675;0.225) AAATCATGATGAGCTTTGATA 0.393000 5 21 0 0 0.003954 0 0 ZBED2 79413 broad.mit.edu 37 3 111312559 111312560 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:111312559_111312560CC>TT uc003dxy.3 - 1 1390_1391 c.489_490GG>AA c.(487-492)agggaa>agAAaa p.E164K CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E164K NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA. 164 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 ACTGCCCTTTCCCTCCTAAGCA 0.604000 62 33 0 0 0.004672 0 0 SIRPD 128646 broad.mit.edu 37 20 1532579 1532579 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:1532579C>T uc002wfi.3 - 1 223 c.179G>A c.(178-180)gGa>gAa p.G60E NM_178460 NP_848555 Q9H106 SIRPD_HUMAN Homo sapiens signal-regulatory protein delta (SIRPD), mRNA. 60 Ig-like V-type. extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 CAAGACAGGTCCATTTGGTAA 0.443000 35 37 0 0 0.003755 0 0 CLPB 81570 broad.mit.edu 37 11 72145343 72145343 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:72145343G>A uc001osj.3 - 0 226 c.176C>T c.(175-177)tCg>tTg p.S59L CLPB_uc010rqx.2_5'UTR|CLPB_uc010rqy.2_Missense_Mutation_p.S59L|CLPB_uc001osk.3_Missense_Mutation_p.S59L|CLPB_uc010rqz.2_5'UTR NM_030813 NP_110440 Q9H078 CLPB_HUMAN Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA. 59 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 CAAGGCCGGCGATGTTCCAGG 0.697000 OREG0021194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 103 64 0 0 0.014410 0 0 ERC1 23085 broad.mit.edu 37 12 1225057 1225057 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:1225057C>T uc001qjb.2 + 6 1668 c.1427C>T c.(1426-1428)tCc>tTc p.S476F ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.S448F|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.S476F|ERC1_uc010sdv.1_Missense_Mutation_p.S224F|ERC1_uc009zdp.3_Missense_Mutation_p.S116F NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA. 476 I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) CAGGAGCTGTCCAGAAAGGAC 0.398000 19 9 0 0 0.008291 0 0 LRRK1 79705 broad.mit.edu 37 15 101593520 101593520 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:101593520C>T uc002bwr.3 + 25 4268 c.3949C>T c.(3949-3951)Ccc>Tcc p.P1317S LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. 1317 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCTGCAGCACCCCTGCATCGT 0.662000 26 12 0 0 0.004007 0 0 TLR5 7100 broad.mit.edu 37 1 223285573 223285573 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:223285573G>A uc021pjl.1 - 0 801 c.801C>T c.(799-801)gcC>gcT p.A267A TLR5_uc001hnv.2_Silent_p.A267A|TLR5_uc001hnw.2_Silent_p.A267A NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 267 MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) AGCCAAACCCGGCACCCATGA 0.493000 82 56 0 0 0.014410 0 0 TRBV5-1 28614 broad.mit.edu 37 7 142021250 142021250 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:142021250G>A uc011krr.1 + 1 415 c.230G>A c.(229-231)gGa>gAa p.G77E TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Missense_Mutation_p.G77E SubName: Full=V_segment translation product; Flags: Fragment; AGAAACAAAGGAAACTTCCCT 0.517000 20 14 0 0 0.002450 0 0 WNT3A 89780 broad.mit.edu 37 1 228238405 228238406 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:228238405_228238406CC>TT uc001hrp.2 + 2 469_470 c.362_363CC>TT c.(361-363)gcc>gTT p.A121V WNT3A_uc001hrq.2_Missense_Mutation_p.A121V NM_033131 NP_149122 P56704 WNT3A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA. 121 Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity p.A121D(2) kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GCCGGTGTGGCCTTTGCAGTGA 0.629000 25 45 0 0 0.004672 0 0 ASCC3 10973 broad.mit.edu 37 6 101075584 101075584 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:101075584C>T uc003pqk.3 - 28 4853 c.4524G>A c.(4522-4524)atG>atA p.M1508I NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA. 1508 Helicase ATP-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding p.M1508L(1) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TAAACAAGCCCATCTAGAGTA 0.353000 3 7 0 0 0.003080 0 0 ANKMY1 51281 broad.mit.edu 37 2 241448827 241448827 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:241448827G>A uc010fzd.1 - 11 2457 c.2332C>T c.(2332-2334)Cct>Tct p.P778S ANKMY1_uc002vzb.1_Missense_Mutation_p.P450S|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.P689S|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA. 689 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AGCAGGTTAGGATTTGCTCCG 0.577000 11 3 0 0 0.009096 0 0 MYOCD 93649 broad.mit.edu 37 17 12656125 12656125 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:12656125C>T uc002gno.2 + 9 1819 c.1520C>T c.(1519-1521)cCt>cTt p.P507L MYOCD_uc002gnn.2_Missense_Mutation_p.P507L|MYOCD_uc002gnp.1_Missense_Mutation_p.P411L|MYOCD_uc002gnq.2_Missense_Mutation_p.P226L NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 507 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGCTCTGTTCCTTCTGAGCTG 0.572000 19 11 0 0 0.010729 0 0 OR51B4 79339 broad.mit.edu 37 11 5322905 5322905 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:5322905G>A uc010qza.2 - 0 272 c.272C>T c.(271-273)gCc>gTc p.A91V HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033179 NP_149419 Q9Y5P0 O51B4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A91S(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCAGCATGGGCAATCTCCCT 0.502000 36 22 0 0 0.010504 0 0 RASEF 158158 broad.mit.edu 37 9 85627427 85627427 + Splice_Site SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:85627427C>T uc004amo.1 - 5 1027 c.766_splice c.e5-1 p.L256_splice NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA. 256 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm GTP binding|calcium ion binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 GTTCTTCGAGCTGAAAGACCA 0.318000 7 6 0 0 0.003080 0 0 FAM58A 92002 broad.mit.edu 37 X 152860031 152860031 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:152860031G>A uc011myr.2 - 3 502 c.391C>T c.(391-393)Cag>Tag p.Q131* FAM58A_uc011mys.2_Nonsense_Mutation_p.Q131* NM_152274 NP_689487 Q8N1B3 FA58A_HUMAN Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA. 135 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AAGGAGACCTGGAAGCGCAGA 0.542000 5 40 0 0 0.005524 0 0 KIAA1967 57805 broad.mit.edu 37 8 22470617 22470618 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:22470617_22470618CC>TT uc003xch.3 + 7 921_922 c.672_673CC>TT c.(670-675)taccgg>taTTgg p.R225W KIAA1967_uc003xci.3_Missense_Mutation_p.R225W|KIAA1967_uc003xcj.1_5'UTR NM_021174 NP_066997 Q8N163 K1967_HUMAN Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA. 225 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity p.R225Q(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) TGCCTCCTTACCGGGTCCACCT 0.545000 32 13 0 0 0.004672 0 0 ZNF423 23090 broad.mit.edu 37 16 49671409 49671409 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:49671409C>T uc002efs.3 - 4 1952 c.1654G>A c.(1654-1656)Gtg>Atg p.V552M ZNF423_uc010vgn.2_Missense_Mutation_p.V435M NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 552 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GGCTGCACCACCGGAGACTCT 0.572000 53 20 0 0 0.010504 0 0 FLG 2312 broad.mit.edu 37 1 152286710 152286710 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:152286710C>T uc001ezu.1 - 2 688 c.652G>A c.(652-654)Gaa>Aaa p.E218K AK056431_uc001ezv.3_Intron NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 218 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGTATTTTCATAATCATAT 0.353000 Ichthyosis 142 19 0 0 0.007413 0 0 MIA 8190 broad.mit.edu 37 19 41281685 41281685 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:41281685G>A uc021uuu.1 + 2 197 c.156G>A c.(154-156)caG>caA p.Q52Q RAB4B_uc010xvt.1_Non-coding_Transcript|RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002opd.2_5'Flank|RAB4B_uc002ope.2_5'Flank|EGLN2_uc010ehd.3_5'Flank|MIA_uc002opb.4_Silent_p.Q52Q NM_001202553 NP_001189482 Q16674 MIA_HUMAN Homo sapiens melanoma inhibitory activity (MIA), transcript variant 2, mRNA. 52 SH3. cell proliferation extracellular space growth factor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GBM - Glioblastoma multiforme(1328;0.0199) TGGCCCTTCAGGACTACATGG 0.602000 34 16 0 0 0.004007 0 0 TEP1 7011 broad.mit.edu 37 14 20851703 20851703 + Silent SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:20851703A>G uc001vxe.3 - 25 3851 c.3811T>C c.(3811-3813)Tta>Cta p.L1271L TEP1_uc010ahk.3_Silent_p.L621L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.L1163L|TEP1_uc010tlh.1_5'Flank NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 1271 NACHT. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGGTCCACTAACCTATCAGCC 0.602000 23 19 0 0 0.007413 0 0 PNPLA6 10908 broad.mit.edu 37 19 7605065 7605065 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:7605065C>T uc010xjq.2 + 6 852 c.612C>T c.(610-612)ttC>ttT p.F204F PNPLA6_uc002mgq.2_Silent_p.F156F|PNPLA6_uc010xjp.2_Silent_p.F156F|PNPLA6_uc002mgr.2_Silent_p.F156F|PNPLA6_uc002mgs.3_Silent_p.F195F NM_001166111 NP_001159583 Q8IY17 PLPL6_HUMAN Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA. 195 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 AGCCACTCTTCCTGGAGCTCT 0.682000 37 29 0 0 0.003755 0 0 CELSR1 9620 broad.mit.edu 37 22 46930583 46930583 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:46930583G>A uc003bhw.1 - 0 2485 c.2485C>T c.(2485-2487)Cag>Tag p.Q829* NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 829 Cadherin 6. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ACGGGGTCCTGAATCACGTAG 0.577000 36 29 0 0 0.007291 0 0 PAPPA 5069 broad.mit.edu 37 9 118997908 118997908 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:118997908C>T uc004bjn.3 + 6 3105 c.2724C>T c.(2722-2724)ttC>ttT p.F908F PAPPA_uc011lxp.1_Silent_p.F603F|PAPPA_uc011lxq.2_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 908 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ATAGGAAATTCGTAGACATGT 0.517000 56 47 0 0 0.014410 0 0 OR4C12 283093 broad.mit.edu 37 11 50003995 50003995 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:50003995G>A uc010ria.2 - 0 77 c.43C>T c.(43-45)Ctt>Ttt p.L15F NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA. 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TTCTGTGTAAGACCTATTAAA 0.353000 26 21 0 0 0.008871 0 0 BTBD7 55727 broad.mit.edu 37 14 93723605 93723605 + Missense_Mutation SNP G A A rs113550651 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:93723605G>A uc001ybo.3 - 5 1870 c.1544C>T c.(1543-1545)tCt>tTt p.S515F BTBD7_uc010aur.3_Missense_Mutation_p.S40F|BTBD7_uc010two.2_Missense_Mutation_p.S335F|BTBD7_uc001ybp.3_Missense_Mutation_p.S164F|BTBD7_uc001ybq.4_Missense_Mutation_p.S430F NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA. 515 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AGGTAAGAGAGAAGAAAGGAT 0.403000 52 41 0 0 0.011902 0 0 TMEM244 253582 broad.mit.edu 37 6 130152480 130152480 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:130152480G>A uc003qbs.3 - 4 454 c.371C>T c.(370-372)tCa>tTa p.S124L ARHGAP18_uc021zfe.1_Intron NM_001010876 NP_001010876 Q5VVB8 CF191_HUMAN Homo sapiens chromosome 6 open reading frame 191 (C6orf191), mRNA. 124 integral to membrane AAGCAATTTTGATATACCTAA 0.269000 5 22 0 0 0.005443 0 0 GOLGB1 2804 broad.mit.edu 37 3 121416987 121416987 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:121416987G>A uc010hrc.3 - 12 2509 c.2383C>T c.(2383-2385)Cat>Tat p.H795Y GOLGB1_uc003eei.4_Missense_Mutation_p.H790Y|GOLGB1_uc003eej.4_Missense_Mutation_p.H756Y|GOLGB1_uc021xcy.1_Missense_Mutation_p.H715Y|GOLGB1_uc011bjm.1_Missense_Mutation_p.H676Y|GOLGB1_uc010hrd.1_Missense_Mutation_p.H754Y NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 790 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) AGGTTGTCATGGGCAGTTTGG 0.408000 57 57 0 0 0.014410 0 0 WIZ 58525 broad.mit.edu 37 19 15547870 15547870 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:15547870C>T uc002nbb.4 - 2 490 c.276G>A c.(274-276)cgG>cgA p.R92R NM_021241 NP_067064 O95785 WIZ_HUMAN Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA. 882 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 AGAGGCCGGCCCGTGTGTCGA 0.627000 12 14 0 0 0.003163 0 0 CYC1 1537 broad.mit.edu 37 8 145151615 145151615 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:145151615C>T uc003zaz.4 + 4 783 c.740C>T c.(739-741)cCc>cTc p.P247L CYC1_uc003zay.3_Missense_Mutation_p.P188L NM_001916 NP_001907 P08574 CY1_HUMAN Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA. 247 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATGGCCCCTCCCATCTACACA 0.582000 24 18 0 0 0.007413 0 0 PROC 5624 broad.mit.edu 37 2 128178999 128178999 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:128178999G>A uc002tol.3 + 2 301 c.274G>A c.(274-276)Gaa>Aaa p.E92K PROC_uc002tok.3_Missense_Mutation_p.E71K|PROC_uc010yzi.2_Missense_Mutation_p.E92K|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Missense_Mutation_p.E92K NM_000312 NP_000303 P04070 PROC_HUMAN Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA. 71 blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) GGAGGCCAAGGAAATTTTCCA 0.587000 25 5 0 0 0.001168 0 0 ENPP2 5168 broad.mit.edu 37 8 120608182 120608182 + Nonsense_Mutation SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:120608182T>A uc003yos.2 - 11 1119 c.1033A>T c.(1033-1035)Aag>Tag p.K345* ENPP2_uc003yor.2_5'Flank|ENPP2_uc010mdd.2_Intron|ENPP2_uc003yot.2_Intron NM_006209 NP_006200 Q13822 ENPP2_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA. 324 G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGTCTCCTCTTAGGGGCAACT 0.458000 45 38 0 0 0.006230 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594521 140594521 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:140594521G>A uc003lja.1 + 0 1013 c.826G>A c.(826-828)Gga>Aga p.G276R NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 276 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGAGTCAACGGAGAGATTTC 0.438000 99 59 0 0 0.014410 0 0 SHQ1 55164 broad.mit.edu 37 3 72799687 72799688 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:72799687_72799688GG>AA uc003dpf.3 - 10 1588_1589 c.1481_1482CC>TT c.(1480-1482)ccc>cTT p.P494L SHQ1_uc010hod.3_Missense_Mutation_p.P405L NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA. 494 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) CTTCAAGAAAGGGACCTTGCAA 0.475000 62 28 0 0 0.004672 0 0 NR6A1 2649 broad.mit.edu 37 9 127298359 127298359 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:127298359C>T uc004bor.1 - 6 1055 c.877G>A c.(877-879)Gag>Aag p.E293K NR6A1_uc004boq.1_Missense_Mutation_p.E288K|NR6A1_uc010mwq.1_Missense_Mutation_p.E289K NM_033334 NP_201591 Q15406 NR6A1_HUMAN Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA. 293 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 AAGAGCAGCTCGTCGGCCAGG 0.542000 51 49 0 0 0.014410 0 0 ARRDC5 645432 broad.mit.edu 37 19 4902869 4902869 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:4902869C>T uc002mbm.3 - 0 11 c.11G>A c.(10-12)aGa>aAa p.R4K NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA. 4 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) ACATTCCTCTCTGTCCCCCAT 0.547000 35 28 0 0 0.009535 0 0 LILRB4 11006 broad.mit.edu 37 19 55178170 55178170 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:55178170G>A uc002qgp.3 + 9 1373 c.1011G>A c.(1009-1011)caG>caA p.Q337Q LILRB4_uc002qgq.3_Silent_p.Q337Q|LILRB4_uc010ert.3_Silent_p.Q379Q|LILRB4_uc010eru.3_Silent_p.Q367Q NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 337 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) AGAACACACAGCCTGAGGACG 0.607000 49 32 0 0 0.012213 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64520858 64520858 + Missense_Mutation SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:64520858T>A uc003jtp.3 - 16 2898 c.2084A>T c.(2083-2085)aAt>aTt p.N695I ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.N316I NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 695 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TCCCAAAATATTATCACAGCC 0.393000 24 18 0 0 0.014323 0 0 IHH 3549 broad.mit.edu 37 2 219920510 219920510 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:219920510C>T uc002vjo.2 - 2 704 c.655G>A c.(655-657)Gcc>Acc p.A219T NM_002181 NP_002172 Q14623 IHH_HUMAN Homo sapiens Indian hedgehog (IHH), mRNA. 219 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGACAAGGCCACACGCGCC 0.667000 18 25 0 0 0.003954 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229467 8229467 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:8229467G>A uc003gkv.4 + 11 2147 c.2046G>A c.(2044-2046)gaG>gaA p.E682E SH3TC1_uc003gkw.4_Silent_p.E606E|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 682 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 AGCAGCCCGAGGAGGCCCTGC 0.701000 11 18 0 0 0.007413 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118331 118331 + RNA SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrGL000205.1:118331C>T uc002kgk.4 + 0 c.1709C>T Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GGGCGTGGCTCCAGGAGGACT 0.547000 42 4 0 0 0.000602 0 0 TXNDC16 57544 broad.mit.edu 37 14 53009099 53009099 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:53009099G>A uc001wzs.3 - 3 682 c.233C>T c.(232-234)tCa>tTa p.S78L TXNDC16_uc010tqu.2_Missense_Mutation_p.S78L|TXNDC16_uc010aoe.3_Non-coding_Transcript NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA. 78 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) CTTGGCAACTGAAATTCCATA 0.318000 26 20 0 0 0.012319 0 0 OAS1 4938 broad.mit.edu 37 12 113346385 113346385 + Missense_Mutation SNP C A A rs142809544 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:113346385C>A uc001tuc.3 + 1 331 c.225C>A c.(223-225)gaC>gaA p.D75E OAS1_uc010syn.2_Missense_Mutation_p.D74E|OAS1_uc010syo.2_Missense_Mutation_p.D74E|OAS1_uc001tub.3_Missense_Mutation_p.D75E|OAS1_uc001tud.3_Missense_Mutation_p.D75E|OAS1_uc009zwf.3_Missense_Mutation_p.D74E NM_001032409 NP_001027581 P00973 OAS1_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA. 75 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 GCCGATCTGACGCTGACCTGG 0.498000 39 19 1.96292e-10 2.08452e-10 0.010504 1 0 EP400 57634 broad.mit.edu 37 12 132522282 132522282 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:132522282C>T uc001ujn.3 + 30 6159 c.6007C>T c.(6007-6009)Ctg>Ttg p.L2003L EP400_uc021rgq.1_Silent_p.L2002L|EP400_uc001ujm.3_Silent_p.L1922L NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2039 Helicase C-terminal. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AACTAAAGATCTGATCCGAGA 0.443000 29 14 0 0 0.003163 0 0 BRCA2 675 broad.mit.edu 37 13 32918762 32918762 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:32918762C>T uc001uub.1 + 11 7136 c.6909C>T c.(6907-6909)tcC>tcT p.S2303S NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 2303 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAGAAAAATCCTTAAAGGCTT 0.289000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 26 16 0 0 0.004990 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140801793 140801793 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:140801793G>A uc003lkq.2 + 0 1257 c.999G>A c.(997-999)acG>acA p.T333T PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.T333T|PCDHGC5_uc003lkp.2_Silent_p.T333T NM_018914 NP_061737 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA. 335 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCACGACGATGTTGATCA 0.408000 30 23 0 0 0.014323 0 0 FBN3 84467 broad.mit.edu 37 19 8154797 8154797 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:8154797G>A uc002mjf.3 - 48 6248 c.6231C>T c.(6229-6231)ggC>ggT p.G2077G FBN3_uc002mje.3_5'UTR NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 2077 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGTCATCCGGGCCTGGGACTG 0.652000 10 3 0 0 0.004672 0 0 PLD5 200150 broad.mit.edu 37 1 242253243 242253243 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:242253243C>T uc001hzn.2 - 10 1751 c.1524G>A c.(1522-1524)ccG>ccA p.P508P PLD5_uc021pll.1_Silent_p.P416P|PLD5_uc001hzl.4_Silent_p.P446P|PLD5_uc001hzm.4_Silent_p.P300P|PLD5_uc001hzo.2_Silent_p.P416P NM_152666 NP_001182741 Q8N7P1 PLD5_HUMAN Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA. 508 integral to membrane catalytic activity p.P508P(1)|p.P416P(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TTGAGCAGTTCGGCTGTTTGG 0.453000 108 132 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179444752 179444753 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179444752_179444753CC>AT uc021vsy.1 - 266 59782_59783 c.59557_59558GG>AT c.(59557-59559)gga>ATa p.G19853I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G13548I|TTN_uc021vta.1_Missense_Mutation_p.G13481I|TTN_uc021vtb.1_Missense_Mutation_p.G13356I|AX746670_uc002umv.1_3'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 20780 Ig-like 110. 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) GTAGGATTTTCCCTCCTCCAAA 0.441000 67 54 0 0 0.004672 0 0 WNT5B 81029 broad.mit.edu 37 12 1748941 1748941 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:1748941C>T uc009zdq.3 + 3 662 c.420C>T c.(418-420)acC>acT p.T140T WNT5B_uc001qjj.3_Silent_p.T140T|WNT5B_uc001qjk.3_Silent_p.T140T|WNT5B_uc001qjl.3_Silent_p.T140T NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA. 140 Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) AGCTCTCCACCTGCGGCTGCA 0.726000 21 6 0 0 0.001168 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625546 140625546 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:140625546C>T uc003lje.3 + 0 400 c.400C>T c.(400-402)Cct>Tct p.P134S NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 134 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTGAGTTTCCTGAAAGAGA 0.428000 43 29 0 0 0.013726 0 0 RCOR1 23186 broad.mit.edu 37 14 103180860 103180860 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:103180860C>T uc001ymb.3 + 7 1187 c.950C>T c.(949-951)tCt>tTt p.S317F NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN Homo sapiens REST corepressor 1 (RCOR1), mRNA. 317 Interaction with KDM1A. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|protein binding|transcription regulatory region DNA binding p.L316H(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 ATGTTTCTTTCTCAAGAAGAT 0.438000 23 19 0 0 0.007413 0 0 FAM71F2 346653 broad.mit.edu 37 7 128315775 128315775 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:128315775C>T uc003vnk.4 + 1 333 c.227C>T c.(226-228)aCc>aTc p.T76I FAM71F2_uc010llm.1_Missense_Mutation_p.T67I|FAM71F2_uc003vnl.3_Non-coding_Transcript|FAM71F2_uc010lln.2_Non-coding_Transcript NM_001012454 NP_001012457 Q6NXP2 F71F2_HUMAN Homo sapiens family with sequence similarity 71, member F2 (FAM71F2), transcript variant 1, mRNA. 76 NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2) 7 GGGTCTGCCACCGTGATCCTC 0.587000 23 20 0 0 0.003330 0 0 RER1 11079 broad.mit.edu 37 1 2332314 2332314 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:2332314C>T uc001aje.2 + 4 496 c.305C>T c.(304-306)cCc>cTc p.P102L RER1_uc001ajf.2_Missense_Mutation_p.P102L NM_007033 NP_008964 O15258 RER1_HUMAN Homo sapiens RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) (RER1), mRNA. 102 retrograde vesicle-mediated transport, Golgi to ER integral to Golgi membrane endometrium(3)|kidney(1) 4 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204) CCTTCGCTACCCACCAAACAG 0.483000 67 44 0 0 0.014410 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51920159 51920159 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:51920159G>A uc002pwo.3 - 2 689 c.467C>T c.(466-468)cCc>cTc p.P156L SIGLEC10_uc002pwp.3_Intron|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Missense_Mutation_p.P156L|SIGLEC10_uc010ycy.2_Missense_Mutation_p.P156L|SIGLEC10_uc010eow.3_5'UTR|LOC100129083_uc021uym.1_Intron NM_033130 NP_149121 Q96LC7 SIG10_HUMAN Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA. 156 Ig-like C2-type 1. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding p.P156P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CGGCTGCCCGGGCTCCAGGGT 0.617000 137 8 0 0 0.004482 0 0 PCNXL2 80003 broad.mit.edu 37 1 233122283 233122283 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:233122283C>T uc001hvl.2 - 32 6030 c.5795G>A c.(5794-5796)aGg>aAg p.R1932K PCNXL2_uc001hvk.1_Missense_Mutation_p.R584K|PCNXL2_uc001hvm.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1932 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GCCTTTCCTCCTGCCTTTAAA 0.582000 14 5 0 0 0.000602 0 0 MPP2 4355 broad.mit.edu 37 17 41957311 41957312 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:41957311_41957312CC>TT uc010win.1 - 9 1377_1378 c.774_775GG>AA c.(772-777)cagggt>caAAgt p.G259S MPP2_uc002ien.1_Missense_Mutation_p.G415S|MPP2_uc010wim.1_Missense_Mutation_p.G387S|MPP2_uc002ieo.1_Missense_Mutation_p.G398S|MPP2_uc010wio.1_Missense_Mutation_p.G387S|MPP2_uc010wip.1_Missense_Mutation_p.G443S Q14168 MPP2_HUMAN Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA. 422 SH3. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) AAGCTGTAACCCTGACCTTCCC 0.609000 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 31 0 0 0.004672 0 0 PDGFRB 5159 broad.mit.edu 37 5 149500874 149500874 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:149500874T>C uc003lro.3 - 16 2825 c.2356A>G c.(2356-2358)Acc>Gcc p.T786A PDGFRB_uc010jhd.3_Missense_Mutation_p.T625A NM_002609 NP_002600 P09619 PGFRB_HUMAN Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA. 786 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity p.R785R(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCTCGGCAGGTCCTCTCAGGG 0.562000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 44 24 0 0 0.009535 0 0 PROS1 5627 broad.mit.edu 37 3 93598050 93598050 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:93598050G>A uc003drb.4 - 12 1942 c.1601C>T c.(1600-1602)cCc>cTc p.P534L PROS1_uc010hoo.3_Missense_Mutation_p.P403L|PROS1_uc003dqz.4_Missense_Mutation_p.P403L NM_000313 NP_000304 P07225 PROS_HUMAN Homo sapiens protein S (alpha) (PROS1), mRNA. 534 Laminin G-like 2. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CACAGCAAAGGGCACTGTGTT 0.418000 35 22 0 0 0.012319 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966269 41966269 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:41966269G>A uc010skn.2 + 9 1696 c.1688G>A c.(1687-1689)cGa>cAa p.R563Q PDZRN4_uc001rmq.4_Missense_Mutation_p.R305Q|PDZRN4_uc009zjz.3_Missense_Mutation_p.R303Q|PDZRN4_uc001rmr.3_Missense_Mutation_p.R190Q NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 563 ubiquitin-protein ligase activity|zinc ion binding p.E562D(2)|p.R305Q(1)|p.R563Q(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAAAGCTTGCGAAATGATGAG 0.493000 15 5 0 0 0.000602 0 0 CACNB1 782 broad.mit.edu 37 17 37333757 37333757 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:37333757T>C uc002hrm.2 - 12 1386 c.1178A>G c.(1177-1179)cAa>cGa p.Q393R CACNB1_uc002hrl.1_Missense_Mutation_p.Q165R|CACNB1_uc002hrn.3_Missense_Mutation_p.Q393R|CACNB1_uc002hro.3_Missense_Mutation_p.Q438R NM_000723 NP_000714 Q02641 CACB1_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA. 393 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) ATCCTCCAATTGGTTCTCATC 0.607000 23 16 0 0 0.006122 0 0 NKD1 85407 broad.mit.edu 37 16 50667172 50667172 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:50667172A>C uc002egg.2 + 9 1117 c.893A>C c.(892-894)cAt>cCt p.H298P NM_033119 NP_149110 Q969G9 NKD1_HUMAN Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA. 298 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) TCTCGCTCCCATGAGCCGGAA 0.592000 75 44 0 0 0.014410 0 0 WDR34 89891 broad.mit.edu 37 9 131397188 131397188 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:131397188C>T uc004bvq.1 - 6 1118 c.994G>A c.(994-996)Gag>Aag p.E332K NM_052844 NP_443076 Q96EX3 WDR34_HUMAN Homo sapiens WD repeat domain 34 (WDR34), mRNA. 332 cytoplasm central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1) 9 ACCTCGGTCTCCCCGCGGGGA 0.627000 OREG0019522 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 6 0 0 0.001168 0 0 MSS51 118490 broad.mit.edu 37 10 75185684 75185684 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:75185684C>T uc009xrh.3 - 5 1096 c.1023G>A c.(1021-1023)ctG>ctA p.L341L MSS51_uc001juc.3_Silent_p.L318L|MSS51_uc001jud.3_Silent_p.L318L|MSS51_uc009xrg.3_Silent_p.L97L NM_001024593 NP_001019764 Q4VC12 ZMY17_HUMAN Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA. 318 zinc ion binding TGCCAGGTTCCAGGGGTGAAG 0.542000 18 16 0 0 0.003163 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178580539 178580539 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:178580539C>T uc003mjw.3 - 8 1570 c.1468G>A c.(1468-1470)Gag>Aag p.E490K ADAMTS2_uc011dgm.2_Missense_Mutation_p.E490K NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 490 Disintegrin. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CGGCATTGCTCGTTCATGGAG 0.667000 25 8 0 0 0.003080 0 0 SLC12A5 57468 broad.mit.edu 37 20 44665398 44665398 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:44665398T>C uc010zxl.1 + 4 590 c.514T>C c.(514-516)Tcc>Ccc p.S172P SLC12A5_uc002xra.2_Missense_Mutation_p.S149P|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.S149P NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 172 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CACGGCCATCTCCATGAGTGC 0.602000 44 30 0 0 0.003271 0 0 RYR1 6261 broad.mit.edu 37 19 38954093 38954093 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:38954093C>T uc002oit.3 + 20 2738 c.2608C>T c.(2608-2610)Cgg>Tgg p.R870W RYR1_uc002oiu.3_Missense_Mutation_p.R870W NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 870 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGAGCGCATTCGGGAGAAGCT 0.642000 29 14 0 0 0.004990 0 0 NEBL 10529 broad.mit.edu 37 10 21134298 21134298 + Splice_Site SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:21134298C>T uc001iqi.3 - 12 1514 c.1117_splice c.e12-1 p.K373_splice NEBL_uc001iqj.3_Splice_Site|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 373 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGTAAACTTTCTGTTAAATAA 0.323000 18 16 0 0 0.004990 0 0 LILRP2 79166 broad.mit.edu 37 19 55221349 55221349 + RNA SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:55221349G>A uc002qgs.1 + 0 c.1749G>A LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. GCGTGTCTAGGAAGCCCTCCC 0.612000 19 13 0 0 0.001855 0 0 MKI67 4288 broad.mit.edu 37 10 129897478 129897478 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:129897478A>C uc001lke.3 - 14 9942 c.9747T>G c.(9745-9747)agT>agG p.S3249R MKI67_uc001lkf.3_Missense_Mutation_p.S2889R NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 3249 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGTCCCTATGACTTCTGGTTC 0.313000 11 15 0 0 0.006122 0 0 DYSF 8291 broad.mit.edu 37 2 71908217 71908217 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:71908217G>A uc010fen.3 + 53 6291 c.6150G>A c.(6148-6150)atG>atA p.M2050I DYSF_uc010fei.3_Missense_Mutation_p.M2028I|DYSF_uc010feh.3_Missense_Mutation_p.M2018I|DYSF_uc002sig.4_Missense_Mutation_p.M1997I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.M2042I|DYSF_uc010fee.3_Missense_Mutation_p.M2032I|DYSF_uc010fef.3_Missense_Mutation_p.M2049I|DYSF_uc002sie.3_Missense_Mutation_p.M2011I|DYSF_uc010feo.3_Missense_Mutation_p.M2043I|DYSF_uc010fej.3_Missense_Mutation_p.M2019I|DYSF_uc010fel.3_Missense_Mutation_p.M1998I|DYSF_uc010fem.3_Missense_Mutation_p.M2033I|DYSF_uc002sif.3_Missense_Mutation_p.M2012I|DYSF_uc010fek.3_Missense_Mutation_p.M2029I|DYSF_uc010yqy.2_Missense_Mutation_p.M892I|DYSF_uc010yqz.2_Missense_Mutation_p.M772I NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 2011 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 AGCCCAACATGAACCCTAAGC 0.607000 36 14 0 0 0.003163 0 0 NME7 29922 broad.mit.edu 37 1 169272414 169272414 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:169272414G>A uc001gfu.3 - 4 647 c.409C>T c.(409-411)Cat>Tat p.H137Y NME7_uc001gft.3_Missense_Mutation_p.H101Y|NME7_uc010plq.2_Non-coding_Transcript|NME7_uc001gfv.1_Missense_Mutation_p.H137Y NM_013330 NP_932076 Q9Y5B8 NDK7_HUMAN Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA. 137 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16 all_hematologic(923;0.208) TGATCTACATGAAAATCCAAT 0.284000 67 11 0 0 0.001855 0 0 NLGN2 57555 broad.mit.edu 37 17 7319288 7319288 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:7319288C>T uc002ggt.1 + 5 1569 c.1496C>T c.(1495-1497)gCg>gTg p.A499V NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN Homo sapiens neuroligin 2 (NLGN2), mRNA. 499 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) GCAGATGCGGCGCACGGGGAT 0.612000 38 17 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179566919 179566919 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179566919C>T uc021vsy.1 - 104 26980 c.26755G>A c.(26755-26757)Gca>Aca p.A8919T TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A5580T|TTN_uc010fre.1_Missense_Mutation_p.A30T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9846 Ig-like 72. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P8918S(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACAGCTCTGCCGTGCTTCTT 0.478000 30 18 0 0 0.010504 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887849 30887849 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:30887849C>T uc003aid.2 - 9 983 c.883G>A c.(883-885)Gag>Aag p.E295K SEC14L4_uc011akz.1_Missense_Mutation_p.E295K|SEC14L4_uc003aie.2_Missense_Mutation_p.E280K|SEC14L4_uc003aif.2_Missense_Mutation_p.E241K NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 295 GOLD. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) AACAGGATCTCGTTCTCCACC 0.652000 6 5 0 0 0.001168 0 0 ENPP5 59084 broad.mit.edu 37 6 46133226 46133226 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:46133226G>A uc003oxz.1 - 2 1112 c.904C>T c.(904-906)Cca>Tca p.P302S ENPP5_uc010jzc.1_Missense_Mutation_p.P302S|ENPP5_uc011dvz.1_Missense_Mutation_p.P208S|ENPP5_uc003oya.1_Missense_Mutation_p.P302S NM_021572 NP_067547 Q9UJA9 ENPP5_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA. 302 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 CACCTTTCTGGAACGTCTTCT 0.398000 90 40 0 0 0.006230 0 0 ZNF100 163227 broad.mit.edu 37 19 21909539 21909539 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:21909539G>A uc002nqi.3 - 4 1774 c.1575C>T c.(1573-1575)tcC>tcT p.S525S ZNF100_uc002nqh.3_Silent_p.S461S NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN Homo sapiens zinc finger protein 100 (ZNF100), mRNA. 525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 TAAGGCTTAGGGACTGGTTAA 0.358000 53 26 0 0 0.006320 0 0 ARIH2 10425 broad.mit.edu 37 3 49005998 49005998 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:49005998C>T uc003cvb.3 + 6 882 c.570C>T c.(568-570)ctC>ctT p.L190L ARIH2_uc003cvc.3_Silent_p.L190L|ARIH2_uc003cvf.3_Silent_p.L108L|ARIH2_uc010hkl.3_Silent_p.L190L NM_006321 NP_006312 O95376 ARI2_HUMAN Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA. 190 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) ACTGTCCACTCCGTACACCAG 0.502000 87 53 0 0 0.014410 0 0 SPPL2C 162540 broad.mit.edu 37 17 43922713 43922713 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:43922713C>T uc010wka.2 + 0 458 c.441C>T c.(439-441)acC>acT p.T147T MAPT-AS1_uc010wjz.2_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN Homo sapiens intramembrane protease 5 (IMP5), mRNA. 147 integral to membrane aspartic-type endopeptidase activity CAGACCTCACCATCCCTGTGG 0.657000 23 16 0 0 0.003163 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117244 117244 + RNA SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrGL000205.1:117244G>A uc002kgk.4 + 0 c.622G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. TGAGGAATTCGCCCCCAGATC 0.522000 65 10 0 0 0.001855 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530769 140530769 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:140530769C>T uc003lir.3 + 0 931 c.931C>T c.(931-933)Cag>Tag p.Q311* NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 311 Cadherin 3. 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) TGAGGAAATTCAGTCTTATGA 0.468000 46 29 0 0 0.009535 0 0 TLL2 7093 broad.mit.edu 37 10 98136548 98136548 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:98136548C>T uc001kml.2 - 17 2590 c.2349G>A c.(2347-2349)gtG>gtA p.V783V NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 783 CUB 4. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GGGTCCCCTCCACACTGCTGA 0.577000 41 26 0 0 0.005443 0 0 MSTN 2660 broad.mit.edu 37 2 190922148 190922148 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:190922148G>A uc002urp.3 - 2 1097 c.964C>T c.(964-966)Cct>Tct p.P322S NM_005259 NP_005250 O14793 GDF8_HUMAN Homo sapiens myostatin (MSTN), mRNA. 322 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity p.P322L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TGAGTATGAGGATATTTTTGT 0.393000 21 22 0 0 0.012319 0 0 TOX2 84969 broad.mit.edu 37 20 42693450 42693450 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:42693450G>A uc010ggo.3 + 5 953 c.913G>A c.(913-915)Gaa>Aaa p.E305K TOX2_uc002xle.4_Missense_Mutation_p.E263K|TOX2_uc010ggp.3_Missense_Mutation_p.E263K|TOX2_uc002xlf.4_Intron|TOX2_uc010zwk.2_Missense_Mutation_p.E183K NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) AGCAAAGAAGGAATATCTGAA 0.562000 63 29 0 0 0.010818 0 0 SLC2A10 81031 broad.mit.edu 37 20 45353731 45353731 + Missense_Mutation SNP G T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:45353731G>T uc002xsl.3 + 1 153 c.56G>T c.(55-57)gGc>gTc p.G19V NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 19 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TTGCTGGGTGGCCTGACCTTT 0.527000 53 49 9.86064e-34 1.05393e-33 0.014410 1 0 GCAT 23464 broad.mit.edu 37 22 38209569 38209569 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:38209569C>T uc003aua.2 + 3 670 c.607C>T c.(607-609)Cgc>Tgc p.R203C GCAT_uc003atz.3_Missense_Mutation_p.R177C NM_001171690 NP_001165161 O75600 KBL_HUMAN Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 177 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GTACCGCTATCGCCACCTGGA 0.662000 23 16 0 0 0.002780 0 0 CHSY1 22856 broad.mit.edu 37 15 101718446 101718446 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:101718446A>G uc021sxt.1 - 2 2032 c.1556T>C c.(1555-1557)cTc>cCc p.L519P CHSY1_uc010usd.2_Missense_Mutation_p.L247P NM_014918 NP_055733 Q86X52 CHSS1_HUMAN Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA. 519 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding p.L519F(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CGACCCAGGGAGCTGAAAGGG 0.458000 62 33 0 0 0.005524 0 0 UGT1A1 54658 broad.mit.edu 37 2 234581115 234581115 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:234581115G>A uc002vus.3 + 0 572 c.535G>A c.(535-537)Gaa>Aaa p.E179K UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.E179K NM_021027 NP_066307 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA. 182 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CTATCTTGAAGAAGGTGCACA 0.473000 119 85 0 0 0.014410 0 0 AANAT 15 broad.mit.edu 37 17 74464885 74464885 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:74464885G>A uc021udg.1 + 4 1199 c.192G>A c.(190-192)ggG>ggA p.G64G AANAT_uc002jro.3_Silent_p.G19G|AANAT_uc010wte.2_Non-coding_Transcript NM_001166579 NP_001079 Q16613 SNAT_HUMAN Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA. 19 N-acetyltransferase. circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity lung(1) 1 TGCCACCTGGGATCCCCGAGT 0.662000 22 8 0 0 0.003080 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243456409 243456409 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:243456409C>T uc001hzw.3 + 5 732 c.563C>T c.(562-564)tCt>tTt p.S188F SDCCAG8_uc010pyk.2_Missense_Mutation_p.S43F|SDCCAG8_uc010pyl.2_Intron|SDCCAG8_uc001hzx.3_Intron|SDCCAG8_uc001hzy.1_Missense_Mutation_p.S4F NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA. 188 G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) ATGCACAATTCTTGGATTACA 0.373000 61 42 0 0 0.010771 0 0 TTN 7273 broad.mit.edu 37 2 179581966 179581966 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179581966C>T uc021vsy.1 - 84 21988 c.21763G>A c.(21763-21765)Gga>Aga p.G7255R TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3916R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8182 Ig-like 54. 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) TAGTTGCCTCCAGGGCGAATC 0.458000 39 19 0 0 0.010504 0 0 RASGRP1 10125 broad.mit.edu 37 15 38852081 38852081 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:38852081C>T uc001zke.4 - 1 339 c.161G>A c.(160-162)gGa>gAa p.G54E RASGRP1_uc001zkd.4_Missense_Mutation_p.G54E NM_005739 NP_005730 O95267 GRP1_HUMAN Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA. 54 N-terminal Ras-GEF. Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding p.G54*(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) GGCTAAATGTCCCAGAGACAC 0.512000 22 26 0 0 0.007291 0 0 C1orf51 148523 broad.mit.edu 37 1 150258992 150258992 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:150258992C>T uc001euj.3 + 4 1233 c.784C>T c.(784-786)Cac>Tac p.H262Y C1orf51_uc001euh.3_Missense_Mutation_p.H262Y|C1orf51_uc001eui.3_Missense_Mutation_p.H174Y NM_144697 NP_653298 Q8N365 CA051_HUMAN Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA. 262 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CACCTGGATCCACACCACTCC 0.502000 155 21 0 0 0.002780 0 0 PLS1 5357 broad.mit.edu 37 3 142403096 142403096 + Splice_Site SNP T G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:142403096T>G uc010huv.3 + 8 905 c.746_splice c.e8-1 p.A249_splice PLS1_uc003euz.3_Splice_Site_p.A249_splice|PLS1_uc003eva.3_Splice_Site_p.A249_splice NM_001145319 NP_002661 Q14651 PLSI_HUMAN Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA. 249 Actin-binding 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 TGCCCTCAGCTCTGATTGCAT 0.413000 61 5 0 0 0.001984 0 0 NPC1 4864 broad.mit.edu 37 18 21141479 21141479 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:21141479G>A uc002kum.4 - 4 750 c.476C>T c.(475-477)gCc>gTc p.A159V NPC1_uc010xaz.2_5'Flank|NPC1_uc010xba.1_Missense_Mutation_p.A4V NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 159 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATCCCGGCAGGCATTGTACAT 0.502000 59 66 0 0 0.014410 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6529656 6529656 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:6529656G>A uc001anp.1 - 17 2610 c.2112C>T c.(2110-2112)atC>atT p.I704I PLEKHG5_uc001ann.1_Silent_p.I664I|PLEKHG5_uc001ano.1_Silent_p.I683I|PLEKHG5_uc001anq.1_Silent_p.I704I|PLEKHG5_uc001anj.1_Silent_p.I188I|PLEKHG5_uc009vma.1_Silent_p.I467I|PLEKHG5_uc010nzr.1_Silent_p.I696I|PLEKHG5_uc001ank.1_Silent_p.I627I|PLEKHG5_uc009vmb.1_Silent_p.I627I|PLEKHG5_uc001anl.1_Silent_p.I627I|PLEKHG5_uc001anm.1_Silent_p.I627I NM_198681 NP_065682 O94827 PKHG5_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA. 683 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GGGGTGGCCTGATGACCCTGG 0.607000 41 25 0 0 0.003330 0 0 LIG3 3980 broad.mit.edu 37 17 33326328 33326328 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:33326328G>A uc002hik.2 + 14 2245 c.2116G>A c.(2116-2118)Ggc>Agc p.G706S LIG3_uc002hij.3_Missense_Mutation_p.G706S NM_013975 NP_039269 P49916 DNLI3_HUMAN Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA. 706 DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) CCTCCCAGGCGGCATGATGTC 0.612000 Other BER factors 33 17 0 0 0.007413 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117358151 117358151 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:117358151A>G uc003vjf.3 - 21 4759 c.4667T>C c.(4666-4668)tTa>tCa p.L1556S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 1556 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AAACATCCTTAAATCATCCCT 0.423000 23 19 0 0 0.010504 0 0 TTN 7273 broad.mit.edu 37 2 179587434 179587434 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179587434C>T uc021vsy.1 - 72 18685 c.18460G>A c.(18460-18462)Gaa>Aaa p.E6154K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2815K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7081 Ig-like 42. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R6153W(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATACTATTTTCTGCTTTGCAT 0.338000 20 11 0 0 0.010729 0 0 FAM5B 57795 broad.mit.edu 37 1 177225096 177225097 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:177225096_177225097GG>AA uc001glf.3 + 2 623_624 c.311_312GG>AA c.(310-312)agg>aAA p.R104K FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_5'Flank NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 104 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GCTCTGGAAAGGAAGGACTTCT 0.495000 OREG0014006 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 126 29 0 0 0.004672 0 0 VPS41 27072 broad.mit.edu 37 7 38785191 38785191 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:38785191C>T uc003tgy.3 - 22 1975 c.1949G>A c.(1948-1950)aGa>aAa p.R650K VPS41_uc003tgz.3_Missense_Mutation_p.R625K|VPS41_uc010kxn.3_Missense_Mutation_p.R561K|VPS41_uc003tgx.3_Non-coding_Transcript NM_014396 NP_055211 P49754 VPS41_HUMAN Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA. 650 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TACAAAGTTTCTCTGTTGACA 0.328000 58 38 0 0 0.011902 0 0 IL18R1 8809 broad.mit.edu 37 2 103013227 103013227 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:103013227G>A uc002tbw.4 + 10 1657 c.1507G>A c.(1507-1509)Gat>Aat p.D503N IL18R1_uc010ywd.2_Missense_Mutation_p.D347N|IL18R1_uc010fiy.3_Missense_Mutation_p.D503N|IL18R1_uc010ywc.2_Missense_Mutation_p.D502N NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 503 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GTGGAAGGCCGATAAATCTCT 0.388000 58 40 0 0 0.010771 0 0 C12orf40 283461 broad.mit.edu 37 12 40114940 40114940 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:40114940C>T uc001rmc.3 + 12 2013 c.1846C>T c.(1846-1848)Cta>Tta p.L616L C12orf40_uc009zjv.1_Intron NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA. 616 p.L616I(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 ACAGTGTGATCTAATTTCAAA 0.413000 37 30 0 0 0.007291 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499750 104499750 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:104499750G>A uc004bbp.2 - 0 1113 c.512C>T c.(511-513)tCg>tTg p.S171L GRIN3A_uc004bbq.1_Missense_Mutation_p.S171L NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 171 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GCTCCATGGCGAACTAGGGGA 0.607000 22 13 0 0 0.013537 0 0 WDR93 56964 broad.mit.edu 37 15 90281389 90281389 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:90281389C>T uc002boj.3 + 15 1984 c.1883C>T c.(1882-1884)cCt>cTt p.P628L WDR93_uc010bnr.3_Missense_Mutation_p.P600L|WDR93_uc010upz.2_Missense_Mutation_p.P345L NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN Homo sapiens WD repeat domain 93 (WDR93), mRNA. 628 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TGTACCATTCCTCAAAGGGAC 0.458000 176 125 0 0 0.014410 0 0 USP7 7874 broad.mit.edu 37 16 9012978 9012979 + Missense_Mutation DNP GT AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:9012978_9012979GT>AA uc002czl.2 - 5 828_829 c.629_630AC>TT c.(628-630)cac>cTT p.H210L USP7_uc010uyk.1_Missense_Mutation_p.H111L|USP7_uc010uyj.1_Missense_Mutation_p.H111L|USP7_uc002czk.2_Missense_Mutation_p.H194L|USP7_uc010uyl.1_Non-coding_Transcript NM_003470 NP_003461 Q93009 UBP7_HUMAN Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA. 210 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process PML body|cytoplasm cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 CGTAGCCTGTGTGCTTCTTTGA 0.460000 59 41 0 0 0.004672 0 0 OSBPL5 114879 broad.mit.edu 37 11 3111846 3111846 + Silent SNP G A A rs139713716 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:3111846G>A uc001lxk.2 - 19 2498 c.2340C>T c.(2338-2340)tcC>tcT p.S780S OSBPL5_uc010qxq.1_Silent_p.S691S|OSBPL5_uc009ydw.2_Silent_p.S712S|OSBPL5_uc001lxl.2_Silent_p.S712S|OSBPL5_uc001lxj.2_Silent_p.S234S NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA. 780 Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport cytosol oxysterol binding|protein binding p.G779G(1)|p.G779V(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) ACTCAGGCGTGGATCCGCTGC 0.667000 28 21 0 0 0.014323 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50186345 50186346 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:50186345_50186346GG>AA uc009zlk.2 - 11 3877_3878 c.3675_3676CC>TT c.(3673-3678)acccct>acTTct p.P1226S NCKAP5L_uc001rvc.3_Missense_Mutation_p.P430S|NCKAP5L_uc001rvb.2_Missense_Mutation_p.P819S NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA. 1222 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 TGGACAGGAGGGGTGGGGCCTG 0.649000 31 19 0 0 0.004672 0 0 SLC17A7 57030 broad.mit.edu 37 19 49944628 49944628 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:49944628G>A uc002pnp.3 - 0 181 c.9C>T c.(7-9)ttC>ttT p.F3F NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA. 3 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CCTCCTGGCGGAACTCCATGG 0.751000 6 13 0 0 0.003163 0 0 APOB 338 broad.mit.edu 37 2 21227313 21227313 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:21227313C>T uc002red.3 - 27 12043 c.11915G>A c.(11914-11916)gGa>gAa p.G3972E NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3972 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTGCGCTTTTCCTTCCCATTC 0.463000 306 192 0 0 0.014410 0 0 RRP12 23223 broad.mit.edu 37 10 99126318 99126318 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:99126318G>A uc001knf.3 - 27 3415 c.3276C>T c.(3274-3276)agC>agT p.S1092S RRP12_uc001kne.3_Silent_p.S107S|RRP12_uc009xvl.3_Silent_p.S209S|RRP12_uc009xvm.3_Silent_p.S810S|RRP12_uc010qou.2_Silent_p.S1031S|RRP12_uc009xvn.3_Silent_p.S992S NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA. 1092 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CCTTGCCTCGGCTTCTTTCCT 0.587000 70 50 0 0 0.014410 0 0 DNAH7 56171 broad.mit.edu 37 2 196788389 196788389 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:196788389G>A uc002utj.4 - 22 3856 c.3755C>T c.(3754-3756)tCa>tTa p.S1252L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1252 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTTTACAAGTGATGAGAGGAC 0.408000 27 27 0 0 0.007291 0 0 NRG3 10718 broad.mit.edu 37 10 84745329 84745329 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:84745329G>A uc021pvc.1 + 9 2158 c.2131G>A c.(2131-2133)Gaa>Aaa p.E711K NRG3_uc010qlz.1_Missense_Mutation_p.E686K|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.E687K|NRG3_uc001kcp.2_Missense_Mutation_p.E490K|NRG3_uc001kcq.2_Missense_Mutation_p.E337K|NRG3_uc021pvd.1_Missense_Mutation_p.E466K|NRG3_uc021pve.1_Missense_Mutation_p.E491K|NRG3_uc021pvf.1_Missense_Mutation_p.E337K|NRG3_uc021pvg.1_Missense_Mutation_p.E515K|NRG3_uc021pvh.1_Missense_Mutation_p.E299K|NRG3_uc021pvi.1_Missense_Mutation_p.E517K|NRG3_uc021pvk.1_Missense_Mutation_p.E227K|NRG3_uc001kcr.2_Missense_Mutation_p.E361K|NRG3_uc021pvl.1_Missense_Mutation_p.E337K NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 711 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.E687K(1)|p.E490K(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CTTAAGAAATGAAATACAAAG 0.438000 36 18 0 0 0.007413 0 0 OR2G2 81470 broad.mit.edu 37 1 247752256 247752256 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:247752256G>A uc010pyy.2 + 0 595 c.595G>A c.(595-597)Gag>Aag p.E199K NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA. 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CACGTTTAACGAGGCTGAGCT 0.522000 83 80 0 0 0.014410 0 0 AQP4 361 broad.mit.edu 37 18 24440760 24440760 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:24440760G>A uc002kwa.3 - 3 732 c.669C>T c.(667-669)atC>atT p.I223I AQP4_uc002kvz.3_Silent_p.I201I NM_001650 NP_001641 P55087 AQP4_HUMAN Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA. 223 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) AATTTCCCATGATAACTGCAG 0.418000 92 49 0 0 0.014410 0 0 PGBD1 84547 broad.mit.edu 37 6 28269230 28269230 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:28269230C>T uc003nky.3 + 6 2019 c.1599C>T c.(1597-1599)ttC>ttT p.F533F PGBD1_uc003nkz.3_Silent_p.F533F NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA. 533 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 ATAAAAATTTCCTCTTGTATG 0.348000 12 69 0 0 0.014410 0 0 VIT 5212 broad.mit.edu 37 2 37041367 37041367 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:37041367G>A uc002rpl.3 + 15 2247 c.1945G>A c.(1945-1947)Gag>Aag p.E649K VIT_uc002rpm.3_Missense_Mutation_p.E634K|VIT_uc010ezv.3_Missense_Mutation_p.E612K|VIT_uc010ezw.3_Missense_Mutation_p.E613K NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN Homo sapiens vitrin (VIT), transcript variant 1, mRNA. 634 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GGCTGCCCAAGAGGAGCTAGA 0.512000 25 22 0 0 0.003954 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64511157 64511157 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:64511157G>A uc003jtp.3 - 18 3244 c.2430C>T c.(2428-2430)atC>atT p.I810I ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.I431I NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 810 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.I810I(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TTACCATGACGATGAGATTTT 0.418000 33 25 0 0 0.005443 0 0 SSPO 23145 broad.mit.edu 37 7 149516521 149516521 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:149516521C>T uc010lpk.3 + 83 11915 c.11915C>T c.(11914-11916)cCc>cTc p.P3972L SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 3975 TSP type-1 17. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCATACCGTCCCCCTGGGCCC 0.706000 16 8 0 0 0.003080 0 0 FAM171B 165215 broad.mit.edu 37 2 187627382 187627382 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:187627382C>T uc002ups.3 + 7 2425 c.2313C>T c.(2311-2313)atC>atT p.I771I FAM171B_uc002upr.1_Silent_p.I738I|FAM171B_uc002upt.3_Silent_p.I240I NM_177454 NP_803237 Q6P995 F171B_HUMAN Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA. 771 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GTGGAGTGATCATGGAGCACC 0.502000 40 21 0 0 0.010504 0 0 MCM3 4172 broad.mit.edu 37 6 52134018 52134018 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:52134018G>A uc003pan.1 - 12 1944 c.1834C>T c.(1834-1836)Cca>Tca p.P612S MCM3_uc011dwu.1_Missense_Mutation_p.P566S NM_002388 NP_002379 P25205 MCM3_HUMAN Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA. 612 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) GCTGTAACTGGAGATGTCTAG 0.512000 40 80 0 0 0.014410 0 0 SLC25A40 55972 broad.mit.edu 37 7 87476383 87476383 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:87476383G>A uc003uje.3 - 7 887 c.512C>T c.(511-513)tCc>tTc p.S171F NM_018843 NP_061331 Q8TBP6 S2540_HUMAN Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA. 171 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 17 Esophageal squamous(14;0.00202) AAACTTCTTGGACTGCATCTT 0.383000 100 53 0 0 0.014410 0 0 TPTE2 93492 broad.mit.edu 37 13 19997296 19997296 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:19997296A>T uc001umd.3 - 20 1686 c.1475T>A c.(1474-1476)cTa>cAa p.L492Q TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.L381Q|TPTE2_uc001ume.3_Missense_Mutation_p.L415Q|TPTE2_uc009zzm.3_Missense_Mutation_p.L163Q|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.L163Q NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 492 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATTTCTTGGTAGACAAAGCCT 0.363000 21 5 0 0 0.000602 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74538651 74538651 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:74538651C>T uc001xpo.3 - 4 474 c.375G>A c.(373-375)ttG>ttA p.L125L C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Silent_p.L112L|ALDH6A1_uc010asa.3_5'UTR NM_005589 NP_005580 Q02252 MMSA_HUMAN Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA. 125 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) TCCCTTGTTCCAATGTGATTA 0.418000 31 34 0 0 0.003755 0 0 CDAN1 146059 broad.mit.edu 37 15 43021262 43021262 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:43021262G>A uc001zql.3 - 18 2721 c.2604C>T c.(2602-2604)ttC>ttT p.F868F CDAN1_uc001zqj.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Silent_p.F194F NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA. 868 F -> I (in CDA1). integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) TTTCTGCCACGAACTCTACGG 0.547000 52 43 0 0 0.014410 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767518 143767518 + Nonsense_Mutation SNP G A A rs66906173 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:143767518G>A uc001ejt.3 - 0 364 c.331C>T c.(331-333)Cag>Tag p.Q111* NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA. 111 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 ATGAAAAACTGGGAACCATTT 0.473000 481 52 0 0 0.014410 0 0 OR7G2 390882 broad.mit.edu 37 19 9213689 9213689 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:9213689C>T uc010xkk.2 - 0 294 c.294G>A c.(292-294)acG>acA p.T98T NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA. 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 TCTTTGGGATCGTGGTTGTGC 0.488000 54 35 0 0 0.004289 0 0 TCTA 6988 broad.mit.edu 37 3 49449940 49449940 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:49449940G>A uc003cwv.4 + 0 302 c.81G>A c.(79-81)cgG>cgA p.R27R RHOA_uc010hku.3_5'Flank|RHOA_uc003cwu.3_5'Flank NM_022171 NP_071503 P57738 TCTA_HUMAN Homo sapiens T-cell leukemia translocation altered gene (TCTA), mRNA. 27 integral to membrane large_intestine(4)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGTTCTTGCGGGAGTGGGAGG 0.677000 50 23 0 0 0.014323 0 0 SALL4 57167 broad.mit.edu 37 20 50408550 50408550 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:50408550C>T uc002xwh.4 - 1 573 c.472G>A c.(472-474)Gag>Aag p.E158K SALL4_uc010gii.3_Missense_Mutation_p.E158K|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 158 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGGGCTGTCTCTGTCTTTAGG 0.567000 124 165 0 0 0.014410 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217656 150217657 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:150217656_150217657GG>AA uc003whk.3 + 1 724_725 c.594_595GG>AA c.(592-597)ggggct>ggAAct p.A199T GIMAP7_uc022apu.1_Missense_Mutation_p.A199T NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 199 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAACGAAGGGGCTTACTTTTC 0.431000 52 26 0 0 0.004672 0 0 OR8B3 390271 broad.mit.edu 37 11 124266550 124266550 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:124266550C>T uc010saj.2 - 0 698 c.698G>A c.(697-699)gGa>gAa p.G233E OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TTTTGATCTTCCTTGAGTGGA 0.373000 9 51 0 0 0.014410 0 0 OR52N2 390077 broad.mit.edu 37 11 5842175 5842175 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:5842175G>A uc010qzp.2 + 0 610 c.610G>A c.(610-612)Gtt>Att p.V204I TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA. 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGTCTGATGGTTGCTCTCCT 0.463000 126 87 0 0 0.014410 0 0 CACNA1A 773 broad.mit.edu 37 19 13397781 13397781 + Splice_Site SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:13397781C>T uc002mwy.3 - 20 3326 c.3090_splice c.e20-1 p.K1030_splice CACNA1A_uc010dzc.2_Splice_Site_p.K556_splice|CACNA1A_uc010xnd.2_Splice_Site_p.K1033_splice|CACNA1A_uc021ups.1_Splice_Site_p.K1030_splice|CACNA1A_uc010xne.2_Splice_Site_p.K1033_splice|CACNA1A_uc010dze.2_Splice_Site_p.K1030_splice|CACNA1A_uc021upt.1_Splice_Site_p.K1031_splice NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1031 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CTGGTTCTCTCTGAGGAAGGC 0.532000 12 14 0 0 0.002450 0 0 RORC 6097 broad.mit.edu 37 1 151787076 151787077 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:151787076_151787077CC>TT uc001ezh.3 - 5 1014_1015 c.906_907GG>AA c.(904-909)cgggag>cgAAag p.E303K RORC_uc001ezg.3_Missense_Mutation_p.E282K|RORC_uc010pdo.2_Missense_Mutation_p.E357K|RORC_uc010pdp.2_Missense_Mutation_p.E303K NM_005060 NP_005051 P51449 RORG_HUMAN Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA. 303 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GTCACTTCCTCCCGGGAGAAGA 0.634000 28 15 0 0 0.004672 0 0 TIE1 7075 broad.mit.edu 37 1 43773225 43773225 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:43773225G>A uc001ciu.3 + 5 1072 c.895G>A c.(895-897)Gga>Aga p.G299R TIE1_uc010okd.2_Missense_Mutation_p.G299R|TIE1_uc010oke.2_Missense_Mutation_p.G254R|TIE1_uc009vwq.3_Missense_Mutation_p.G255R|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'UTR|TIE1_uc010okc.2_Missense_Mutation_p.G299R NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 299 EGF-like 2. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGCTGGAGAGGAAGCCAGTG 0.617000 45 34 0 0 0.003271 0 0 DKFZp666K117 0 broad.mit.edu 37 13 32527498 32527498 + RNA SNP C G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:32527498C>G uc001utu.2 + 3 c.1256C>G DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA. TCAACAAGATCTGGCCTGAGT 0.478000 24 18 0 0 0.010504 0 0 TLR5 7100 broad.mit.edu 37 1 223285080 223285080 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:223285080C>T uc021pjl.1 - 0 1294 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K TLR5_uc001hnv.2_Missense_Mutation_p.E432K|TLR5_uc001hnw.2_Missense_Mutation_p.E432K NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 432 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) AGCCTGTTTTCTGATAAGTGG 0.393000 51 53 0 0 0.014410 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41010070 41010070 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:41010070C>T uc003jmj.4 - 30 3737 c.3247G>A c.(3247-3249)Gat>Aat p.D1083N HEATR7B2_uc003jmi.4_Missense_Mutation_p.D638N NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1083 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 ACAACTGTATCCATGTGAAAG 0.438000 37 27 0 0 0.010818 0 0 MAS1 4142 broad.mit.edu 37 6 160328869 160328869 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:160328869C>T uc003qsz.3 + 0 896 c.882C>T c.(880-882)tcC>tcT p.S294S NM_002377 NP_002368 P04201 MAS_HUMAN Homo sapiens MAS1 oncogene (MAS1), mRNA. 294 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) TCAAGGAGTCCTTAAAAGTTG 0.438000 14 34 0 0 0.003755 0 0 SLC17A6 57084 broad.mit.edu 37 11 22384297 22384297 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:22384297G>A uc001mqk.3 + 5 1087 c.674G>A c.(673-675)gGa>gAa p.G225E NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA. 225 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity p.G225K(2)|p.G225E(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TCCTATGCCGGAGCTGTGATT 0.398000 43 25 0 0 0.008361 0 0 MGAM 8972 broad.mit.edu 37 7 141732641 141732641 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:141732641C>T uc003vwy.3 + 13 1655 c.1601C>T c.(1600-1602)tCc>tTc p.S534F NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 534 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AATGAAGTCTCCAACTTTGTT 0.363000 12 5 0 0 0.000602 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188515 70188515 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:70188515G>A uc002sfz.4 - 0 883 c.306C>T c.(304-306)gtC>gtT p.V102V NM_152792 NP_690005 Q53RT3 APRV1_HUMAN Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA. 102 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 AAGGTTCCGGGACGAAGGCAT 0.577000 45 22 0 0 0.004656 0 0 DNAH5 1767 broad.mit.edu 37 5 13753569 13753569 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:13753569C>T uc003jfd.2 - 62 10687 c.10645G>A c.(10645-10647)Gaa>Aaa p.E3549K DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3549 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCTTTCATTTCCTTCCGCCAG 0.403000 Kartagener syndrome 74 48 0 0 0.014410 0 0 SERPINB11 89778 broad.mit.edu 37 18 61383299 61383299 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:61383299C>T uc002ljk.4 + 5 556 c.385C>T c.(385-387)Caa>Taa p.Q129* SERPINB11_uc010xes.2_Intron|SERPINB11_uc010dqd.3_Nonsense_Mutation_p.Q16*|SERPINB11_uc002ljj.4_Nonsense_Mutation_p.Q16*|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron NM_080475 NP_536723 Q96P15 SPB11_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA. 130 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GAAATGGTATCAAGCCAGGTT 0.338000 15 9 0 0 0.010729 0 0 SMC3 9126 broad.mit.edu 37 10 112356173 112356173 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:112356173C>T uc001kze.3 + 18 2107 c.1981C>T c.(1981-1983)Cgg>Tgg p.R661W NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA. 661 Flexible hinge. DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity p.H660Y(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) AGTCAGCCATCGGGGTGCTCT 0.353000 29 23 0 0 0.006320 0 0 MYH8 4626 broad.mit.edu 37 17 10295884 10295884 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:10295884C>T uc002gmm.2 - 37 5638 c.5543G>A c.(5542-5544)cGa>cAa p.R1848Q AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1848 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle p.R1848*(1) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTTTACTCGTCGCTCATGTTT 0.408000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 78 53 0 0 0.014410 0 0 ERC2 26059 broad.mit.edu 37 3 56330433 56330433 + Missense_Mutation SNP C A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:56330433C>A uc021wzo.1 - 1 828 c.688G>T c.(688-690)Gat>Tat p.D230Y ERC2_uc003dhr.1_Missense_Mutation_p.D230Y NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 230 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CGCAGCTCATCTTGAAGGGCC 0.522000 33 18 3.32936e-07 3.52992e-07 0.006122 1 0 CHEK2P2 646096 broad.mit.edu 37 15 20495418 20495418 + RNA SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:20495418C>T uc001ytf.1 + 4 c.621C>T Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. GAAAATGAATCCACAGCTCTA 0.383000 77 11 0 0 0.013537 0 0 PTK2B 2185 broad.mit.edu 37 8 27255116 27255116 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:27255116C>T uc003xfn.2 + 6 823 c.15C>T c.(13-15)tcC>tcT p.S5S PTK2B_uc022ate.1_Silent_p.S5S|PTK2B_uc003xfp.2_Silent_p.S5S|PTK2B_uc003xfq.2_Silent_p.S5S NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 5 apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CTGGGGTGTCCGAGCCCCTGA 0.602000 41 42 0 0 0.014410 0 0 FOXN1 8456 broad.mit.edu 37 17 26851638 26851638 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:26851638C>T uc010crm.3 + 2 439 c.241C>T c.(241-243)Cac>Tac p.H81Y FOXN1_uc002hbj.3_Missense_Mutation_p.H81Y NM_003593 NP_003584 O15353 FOXN1_HUMAN Homo sapiens forkhead box N1 (FOXN1), mRNA. 81 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) AGTCCAGGGCCACTGCCCAGC 0.677000 23 18 0 0 0.004990 0 0 ROPN1L 83853 broad.mit.edu 37 5 10461461 10461461 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:10461461A>G uc021xwo.1 + 4 766 c.583A>G c.(583-585)Aag>Gag p.K195E ROPN1L_uc003jex.4_Missense_Mutation_p.K195E NM_001201466 NP_001188395 Q96C74 ROP1L_HUMAN Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA. 195 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 TGCCTCTCTAAAGGAAAATAT 0.453000 56 43 0 0 0.014410 0 0 TCRA 0 broad.mit.edu 37 14 22539349 22539349 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:22539349C>T uc001wcy.3 + 1 256 c.245C>T c.(244-246)cCc>cTc p.P82L TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209. TTTTACATTCCCTCAGGGACA 0.478000 24 22 0 0 0.002780 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334373 39334373 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:39334373C>T uc002hwd.3 - 0 88 c.44G>A c.(43-45)tGt>tAt p.C15Y NM_033062 NP_149051 Q9BYR5 KRA42_HUMAN Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA. 15 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) CTCTAGGCCACAGCCCTGGTC 0.612000 56 34 0 0 0.004289 0 0 PRUNE2 158471 broad.mit.edu 37 9 79461488 79461489 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:79461488_79461489CC>TT uc010mpk.3 - 3 574_575 c.450_451GG>AA c.(448-453)aaggag>aaAAag p.E151K PRUNE2_uc022bih.1_5'UTR|PRUNE2_uc004akn.3_Missense_Mutation_p.E151K NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 151 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity p.E151E(1) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TGGAGAATCTCCTTTAGCACGA 0.475000 28 20 0 0 0.004672 0 0 GCN1L1 10985 broad.mit.edu 37 12 120582844 120582845 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:120582844_120582845CC>TT uc001txo.3 - 39 5050_5051 c.5037_5038GG>AA c.(5035-5040)aaggcc>aaAAcc p.A1680T NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1680 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCCCAAGGGCCTTTGCAGATA 0.574000 35 17 0 0 0.004672 0 0 GDF2 2658 broad.mit.edu 37 10 48414365 48414365 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:48414365C>T uc001jfa.1 - 1 663 c.503G>A c.(502-504)gGa>gAa p.G168E NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 168 BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GACCACGCTTCCTTTCAGGTC 0.507000 32 12 0 0 0.010729 0 0 ZNF618 114991 broad.mit.edu 37 9 116769719 116769719 + Splice_Site SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:116769719G>A uc004bid.3 + 7 739 c.640_splice c.e7+1 p.V214_splice ZNF618_uc004bib.1_Splice_Site_p.V182_splice|ZNF618_uc004bic.3_Splice_Site_p.V182_splice|ZNF618_uc011lxi.2_Splice_Site_p.V182_splice|ZNF618_uc011lxj.2_Splice_Site_p.V182_splice NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN Homo sapiens zinc finger protein 618 (ZNF618), mRNA. 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 CGCAGTGGATGGTGAGTCAGG 0.572000 15 11 0 0 0.002450 0 0 STON2 85439 broad.mit.edu 37 14 81745057 81745057 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:81745057C>T uc010tvu.2 - 3 796 c.598G>A c.(598-600)Gaa>Aaa p.E200K STON2_uc001xvk.1_Missense_Mutation_p.E200K|STON2_uc010tvt.2_5'UTR NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 200 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) TCTACTTCTTCATCTTCTTGA 0.507000 54 39 0 0 0.006230 0 0 SHROOM2 357 broad.mit.edu 37 X 9912692 9912692 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:9912692C>T uc004csu.1 + 8 4413 c.4323C>T c.(4321-4323)atC>atT p.I1441I SHROOM2_uc004csv.2_Silent_p.I275I|SHROOM2_uc011mic.1_Silent_p.I276I|SHROOM2_uc004csw.1_Silent_p.I276I NM_001649 NP_001640 Q13796 SHRM2_HUMAN Homo sapiens shroom family member 2 (SHROOM2), mRNA. 1441 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) AGGAGCTCATCGAGAGCATCA 0.687000 1 10 0 0 0.013537 0 0 CSMD1 64478 broad.mit.edu 37 8 3087727 3087727 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:3087727G>A uc022aqr.1 - 26 4570 c.4180C>T c.(4180-4182)Cca>Tca p.P1394S CSMD1_uc011kwj.2_Missense_Mutation_p.P787S|CSMD1_uc003wqe.3_Missense_Mutation_p.P551S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1395 Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGCATACCTGGATCGTTACAG 0.522000 11 3 0 0 0.004672 0 0 GEMIN5 25929 broad.mit.edu 37 5 154275824 154275824 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:154275824G>A uc003lvx.3 - 23 3508 c.3425C>T c.(3424-3426)tCc>tTc p.S1142F GEMIN5_uc011ddk.1_Missense_Mutation_p.S1141F NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA. 1142 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTAAGAGGAGGAGCTTTTGCC 0.542000 26 12 0 0 0.001855 0 0 LRP1B 53353 broad.mit.edu 37 2 141459360 141459360 + Silent SNP C T T rs139951414 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:141459360C>T uc002tvj.1 - 39 7329 c.6357G>A c.(6355-6357)acG>acA p.T2119T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2119 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATGGTTATCGTTTCTGTGG 0.413000 TSP Lung(27;0.18) 39 29 0 0 0.009535 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74876350 74876350 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:74876350G>A uc001xpx.2 - 1 346 c.98C>T c.(97-99)tCc>tTc p.S33F NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA. 33 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 TTCCTGGCAGGACCAGCTGGG 0.662000 39 22 0 0 0.003954 0 0 OR1B1 347169 broad.mit.edu 37 9 125391365 125391365 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:125391365G>A uc011lyz.2 - 0 450 c.450C>T c.(448-450)agC>agT p.S150S NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA. 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 ACACCACCCAGCTCAAGGCTA 0.547000 22 8 0 0 0.004482 0 0 CCDC135 84229 broad.mit.edu 37 16 57734062 57734062 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:57734062C>T uc002emi.3 + 3 473 c.384C>T c.(382-384)ttC>ttT p.F128F CCDC135_uc002emj.3_Silent_p.F128F|CCDC135_uc002emk.3_Silent_p.F128F NM_032269 NP_115645 Q8IY82 CC135_HUMAN Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA. 128 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 TGCAGAAGTTCGTGAGCACAA 0.572000 118 71 0 0 0.014410 0 0 ETV1 2115 broad.mit.edu 37 7 13971334 13971334 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:13971334G>A uc021zzz.1 - 6 682 c.595C>T c.(595-597)Cct>Tct p.P199S ETV1_uc021zzt.1_Missense_Mutation_p.P159S|ETV1_uc021zzu.1_Missense_Mutation_p.P96S|ETV1_uc021zzv.1_Missense_Mutation_p.P141S|ETV1_uc021zzw.1_Missense_Mutation_p.P159S|ETV1_uc021zzx.1_Missense_Mutation_p.P96S|ETV1_uc021zzy.1_Missense_Mutation_p.P141S|ETV1_uc022aaa.1_Missense_Mutation_p.P181S|ETV1_uc022aab.1_Missense_Mutation_p.P199S|ETV1_uc003ssw.4_Missense_Mutation_p.P199S|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.P181S|ETV1_uc022aad.1_Missense_Mutation_p.P181S|ETV1_uc010ktv.3_Missense_Mutation_p.P68S NM_004956 NP_004947 P50549 ETV1_HUMAN Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA. 199 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GTCGGCAAAGGAGGAAAGGAG 0.478000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 28 13 0 0 0.013537 0 0 CXorf36 79742 broad.mit.edu 37 X 45059862 45059862 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:45059862C>T uc004dgg.2 - 0 285 c.210G>A c.(208-210)aaG>aaA p.K70K CXorf36_uc004dgi.3_Silent_p.K70K NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA. 70 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 TAAAGAACTTCTTGCAAATAG 0.383000 4 20 0 0 0.014323 0 0 ZNF160 90338 broad.mit.edu 37 19 53572715 53572715 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:53572715T>C uc010eqk.3 - 6 1488 c.1072A>G c.(1072-1074)Acc>Gcc p.T358A ZNF160_uc002qaq.4_Missense_Mutation_p.T358A|ZNF160_uc002qar.4_Missense_Mutation_p.T358A NM_001102603 NP_942596 Q9HCG1 ZN160_HUMAN Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA. 358 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AACTGATGGGTAGTTAGGTTT 0.378000 57 36 0 0 0.004878 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147315 26147315 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:26147315G>A uc002dof.3 + 1 1509 c.1117G>A c.(1117-1119)Gat>Aat p.D373N NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA. 373 heparan sulfate proteoglycan metabolic process Golgi membrane|extracellular region|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) CAAAGTACAGGATTTTCTAGG 0.507000 33 25 0 0 0.004656 0 0 HTR3A 3359 broad.mit.edu 37 11 113860336 113860336 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:113860336G>A uc010rxb.2 + 7 1635 c.1402G>A c.(1402-1404)Gaa>Aaa p.E468K HTR3A_uc010rxa.2_Missense_Mutation_p.E436K|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.E415K NM_213621 NP_998786 P46098 5HT3A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA. 430 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GCAATTCCTGGAAAAGCGGGA 0.647000 22 33 0 0 0.003271 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967284 41967284 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:41967284C>T uc010skn.2 + 9 2711 c.2703C>T c.(2701-2703)atC>atT p.I901I PDZRN4_uc001rmq.4_Silent_p.I643I|PDZRN4_uc009zjz.3_Silent_p.I641I|PDZRN4_uc001rmr.3_Silent_p.I528I NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 901 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CACGGTACATCACAAAGAGAC 0.522000 41 30 0 0 0.012213 0 0 LILRB5 10990 broad.mit.edu 37 19 54754889 54754889 + Silent SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:54754889T>C uc010yer.1 - 12 1857 c.1746A>G c.(1744-1746)agA>agG p.R582R LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 388 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTCCATCTGTCTGTCCTCTT 0.597000 13 6 0 0 0.006214 0 0 BAI3 577 broad.mit.edu 37 6 70049224 70049224 + Splice_Site SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:70049224G>A uc010kak.3 + 25 3564 c.3288_splice c.e25-1 p.M1096_splice BAI3_uc003pev.4_Splice_Site_p.M1096_splice|BAI3_uc011dxx.2_Splice_Site_p.M302_splice NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1096 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGTCTCAACAGGGCGTCTCTT 0.478000 19 67 0 0 0.014410 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21008089 21008089 + Missense_Mutation SNP G T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:21008089G>T uc010sil.2 + 1 277 c.212G>T c.(211-213)gGa>gTa p.G71V SLCO1B3_uc001rek.3_Missense_Mutation_p.G71V|SLCO1B3_uc001rel.3_Missense_Mutation_p.G71V|SLCO1B3_uc010sim.2_Missense_Mutation_p.G71V Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 71 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TTAATTGATGGAAGCTTTGAA 0.318000 13 8 2.17888e-05 2.30828e-05 0.006214 1 0 DSCAM 1826 broad.mit.edu 37 21 41648186 41648186 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:41648186G>A uc002yyq.1 - 10 2646 c.2194C>T c.(2194-2196)Ccc>Tcc p.P732S DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 732 Ig-like C2-type 8. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGAACTGGGGAACCCCAGCA 0.478000 21 23 0 0 0.005443 0 0 SCRIB 23513 broad.mit.edu 37 8 144886272 144886272 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:144886272A>T uc003yzp.1 - 21 3071 c.3064T>A c.(3064-3066)Tcc>Acc p.S1022T SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.S1022T NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 1022 Interaction with ARHGEF7.|PDZ 3. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GAATGGTCGGAGCCTCCGACA 0.627000 11 9 0 0 0.008291 0 0 MYH3 4621 broad.mit.edu 37 17 10541731 10541731 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:10541731C>T uc002gmq.2 - 26 3446 c.3358G>A c.(3358-3360)Gaa>Aaa p.E1120K NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 1120 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 ATCTCCTCTTCCAGCTCCTCA 0.637000 21 15 0 0 0.004990 0 0 CNOT6 57472 broad.mit.edu 37 5 179977018 179977018 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:179977018C>T uc003mlx.3 + 2 549 c.200C>T c.(199-201)cCt>cTt p.P67L CNOT6_uc010jld.3_Missense_Mutation_p.P67L|CNOT6_uc010jle.3_Missense_Mutation_p.P67L NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA. 67 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|exonuclease activity|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TCCCGAATTCCTTCAGACATT 0.428000 131 41 0 0 0.008740 0 0 GJA10 84694 broad.mit.edu 37 6 90604507 90604507 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:90604507G>A uc011eaa.2 + 0 320 c.320G>A c.(319-321)aGg>aAg p.R107K NM_032602 NP_115991 Q969M2 CXA10_HUMAN Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA. 107 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GAGAAAGACAGGCAGAGGAAA 0.458000 6 21 0 0 0.012319 0 0 KLK3 354 broad.mit.edu 37 19 51361525 51361525 + Silent SNP G A A rs147547638 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:51361525G>A uc021uyi.1 + 2 488 c.447G>A c.(445-447)ggG>ggA p.G149G KLK3_uc002pts.1_Silent_p.G149G|KLK3_uc002ptr.1_Silent_p.G106G|KLK3_uc010eof.1_Non-coding_Transcript NM_001648 NP_001639 P07288 KLK3_HUMAN Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA. 149 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity p.G149W(1) breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) CAGCACTGGGGACCACCTGCT 0.652000 27 24 0 0 0.002780 0 0 GPR98 84059 broad.mit.edu 37 5 90024619 90024619 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:90024619C>T uc003kju.3 + 48 10391 c.10295C>T c.(10294-10296)tCc>tTc p.S3432F GPR98_uc003kjt.3_Missense_Mutation_p.S1138F|GPR98_uc003kjv.3_Missense_Mutation_p.S1032F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3432 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGGCTAAACTCCCTTTTATTC 0.478000 30 31 0 0 0.007291 0 0 VCAN 1462 broad.mit.edu 37 5 82816938 82816938 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:82816938C>T uc003kii.3 + 6 3169 c.2813C>T c.(2812-2814)tCt>tTt p.S938F VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S938F|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 938 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.S938Y(2) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAGCCAGTATCTACTGTTCCC 0.438000 67 32 0 0 0.012213 0 0 SYT15 83849 broad.mit.edu 37 10 46965032 46965032 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:46965032G>A uc001jea.3 - 5 1066 c.913C>T c.(913-915)Ctc>Ttc p.L305F SYT15_uc001jdz.2_Missense_Mutation_p.L305F|SYT15_uc001jeb.3_Missense_Mutation_p.L183F|SYT15_uc010qfp.1_Non-coding_Transcript NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA. 305 C2 2. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 TGGAGCCGGAGGCCCTTGGCA 0.637000 26 6 0 0 0.001984 0 0 ATP8A1 10396 broad.mit.edu 37 4 42627695 42627695 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:42627695C>T uc003gwr.2 - 2 432 c.200G>A c.(199-201)aGa>aAa p.R67K ATP8A1_uc003gws.2_Missense_Mutation_p.R67K|ATP8A1_uc011byz.1_Missense_Mutation_p.R67K NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 67 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GTAGAGAAATCTTGGAAGGAA 0.348000 13 15 0 0 0.006122 0 0 BZRAP1 9256 broad.mit.edu 37 17 56384174 56384174 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:56384174G>A uc002ivx.4 - 24 6010 c.5139C>T c.(5137-5139)ctC>ctT p.L1713L BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Silent_p.L1653L|BZRAP1_uc010wnt.2_Silent_p.L1713L NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1713 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGCCCTCAAGGAGAATATCTG 0.592000 20 14 0 0 0.001855 0 0 FGD6 55785 broad.mit.edu 37 12 95488388 95488388 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:95488388G>A uc001tdp.4 - 14 3804 c.3580C>T c.(3580-3582)Cct>Tct p.P1194S FGD6_uc009zsx.3_Missense_Mutation_p.P327S|FGD6_uc001tdq.1_Missense_Mutation_p.P230S NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA. 1194 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CTCCTACTAGGACAGAAGGTG 0.393000 51 40 0 0 0.009718 0 0 C15orf2 23742 broad.mit.edu 37 15 24924145 24924146 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:24924145_24924146GG>AA uc001ywo.3 + 0 3605_3606 c.3131_3132GG>AA c.(3130-3132)ggg>gAA p.G1044E NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 1044 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GGACAGAGTGGGACACCCAGCA 0.574000 27 13 0 0 0.004672 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364235 23364235 + Missense_Mutation SNP T G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:23364235T>G uc002dln.3 + 2 601 c.425T>G c.(424-426)tTc>tGc p.F142C NM_000336 NP_000327 P51168 SCNNB_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA. 142 excretion|sensory perception of taste apical plasma membrane WW domain binding|ligand-gated sodium channel activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) AACCTGAACTTCTCCATCTGG 0.522000 58 46 0 0 0.014410 0 0 CLDN17 26285 broad.mit.edu 37 21 31538540 31538540 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:31538540G>A uc011acv.2 - 0 432 c.396C>T c.(394-396)ttC>ttT p.F132F NM_012131 NP_036263 P56750 CLD17_HUMAN Homo sapiens claudin 17 (CLDN17), mRNA. 132 calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 23 GAATCAGAACGAAGATGCCCG 0.512000 66 42 0 0 0.009718 0 0 FARSA 2193 broad.mit.edu 37 19 13041140 13041140 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:13041140C>T uc002mvs.2 - 3 448 c.400G>A c.(400-402)Gat>Aat p.D134N FARSA_uc010xmv.1_Missense_Mutation_p.D134N NM_004461 NP_004452 Q9Y285 SYFA_HUMAN Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA. 134 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) TGCACCTCATCCTCCATGCTG 0.662000 42 25 0 0 0.004656 0 0 LRRC55 219527 broad.mit.edu 37 11 56954765 56954765 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:56954765C>T uc001njl.2 + 1 984 c.837C>T c.(835-837)gcC>gcT p.A279A NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA. 249 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 TCGAGGGCGCCCCGCTCTTCT 0.597000 56 48 0 0 0.014410 0 0 FBXL18 80028 broad.mit.edu 37 7 5545151 5545151 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:5545151G>A uc003soo.2 - 1 223 c.129C>T c.(127-129)gtC>gtT p.V43V FBXL18_uc003son.4_Silent_p.V43V NM_024963 NP_079239 Q96ME1 FXL18_HUMAN Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA. 43 F-box. FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) CTGTGCTGGGGACGTGACTCA 0.567000 35 32 0 0 0.013726 0 0 CDH15 1013 broad.mit.edu 37 16 89254573 89254573 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:89254573G>A uc002fmt.3 + 6 935 c.858G>A c.(856-858)agG>agA p.R286R NM_004933 NP_004924 P55291 CAD15_HUMAN Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA. 286 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) TGGAGGACAGGGACCTGCCAG 0.642000 14 10 0 0 0.001855 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118005895 118005895 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:118005895C>T uc003ibv.4 - 0 842 c.655G>A c.(655-657)Gga>Aga p.G219R NM_152402 NP_689615 Q8N609 TR1L1_HUMAN Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA. 219 TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 AGAAGAAGTCCCAAATGATTC 0.388000 29 11 0 0 0.010729 0 0 ZNF160 90338 broad.mit.edu 37 19 53571903 53571903 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:53571903C>T uc010eqk.3 - 6 2300 c.1884G>A c.(1882-1884)aaG>aaA p.K628K ZNF160_uc002qaq.4_Silent_p.K628K|ZNF160_uc002qar.4_Silent_p.K628K NM_001102603 NP_942596 Q9HCG1 ZN160_HUMAN Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA. 628 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) GCCTAAAAACCTTGCCGCATT 0.413000 46 38 0 0 0.004289 0 0 HERC2 8924 broad.mit.edu 37 15 28408265 28408265 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:28408265G>A uc001zbj.3 - 68 10827 c.10721C>T c.(10720-10722)tCc>tTc p.S3574F NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 3574 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCCCATGCCGGAAAGCACCGC 0.647000 45 19 0 0 0.010504 0 0 KRT6A 3853 broad.mit.edu 37 12 52886924 52886924 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:52886924C>T uc001sam.3 - 0 258 c.49G>A c.(49-51)Ggt>Agt p.G17S NM_005554 NP_005545 P02538 K2C6A_HUMAN Homo sapiens keratin 6A (KRT6A), mRNA. 17 Head. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton p.R16W(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GCACTGAAACCCCGGCGGCTG 0.652000 42 19 0 0 0.008871 0 0 DSC1 1823 broad.mit.edu 37 18 28737418 28737418 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:28737418C>T uc002kwn.3 - 2 529 c.267G>A c.(265-267)agG>agA p.R89R DSC1_uc002kwm.3_Silent_p.R89R NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 89 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AAAAACTTTTCCTTTCAGAAG 0.428000 31 22 0 0 0.014323 0 0 ABCC10 89845 broad.mit.edu 37 6 43412968 43412968 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:43412968C>T uc003ouy.1 + 13 3161 c.2946C>T c.(2944-2946)acC>acT p.T982T ABCC10_uc003ouz.1_Silent_p.T954T|ABCC10_uc010jyo.1_Silent_p.T88T NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 982 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCCTCTGCACCCTTCTCCGGG 0.592000 37 43 0 0 0.014410 0 0 ZNF211 10520 broad.mit.edu 37 19 58145224 58145224 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:58145224C>T uc002qpr.2 + 1 341 c.38C>T c.(37-39)tCc>tTc p.S13F ZNF211_uc010yhb.1_Intron|ZNF211_uc002qpp.2_Intron|ZNF211_uc002qpq.2_Intron|ZNF211_uc002qpt.2_Missense_Mutation_p.S13F|ZNF211_uc010yhc.1_Missense_Mutation_p.S13F|ZNF211_uc010yhe.1_Intron|ZNF211_uc010yhd.1_Intron NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 0 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) gaatatttttccaaggccaca 0.502000 14 4 0 0 0.009096 0 0 CYP26A1 1592 broad.mit.edu 37 10 94837052 94837052 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:94837052G>A uc001kil.2 + 6 1530 c.1485G>A c.(1483-1485)ggG>ggA p.G495G CYP26A1_uc001kik.1_Silent_p.G426G NM_000783 NP_000774 O43174 CP26A_HUMAN Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA. 495 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) ATTTCCATGGGGAAATCTGAT 0.393000 20 16 0 0 0.006122 0 0 SV2A 9900 broad.mit.edu 37 1 149882239 149882239 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:149882239C>T uc001etg.3 - 4 1463 c.972G>A c.(970-972)atG>atA p.M324I SV2A_uc001eth.2_Missense_Mutation_p.M324I NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. 324 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) AGGCAGAACCCATCTGAAAAC 0.587000 28 10 0 0 0.006214 0 0 HNRNPK 3190 broad.mit.edu 37 9 86585198 86585199 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:86585198_86585199GG>AA uc004ang.4 - 15 1463_1464 c.1239_1240CC>TT c.(1237-1242)atccgt>atTTgt p.R414C HNRNPK_uc011lsw.2_Missense_Mutation_p.R174C|HNRNPK_uc004and.4_Missense_Mutation_p.R174C|HNRNPK_uc004anf.4_Missense_Mutation_p.R414C|HNRNPK_uc004anh.4_Missense_Mutation_p.R390C|HNRNPK_uc011lsx.2_Missense_Mutation_p.R390C|HNRNPK_uc004anl.4_Missense_Mutation_p.R414C|HNRNPK_uc004anm.4_Missense_Mutation_p.R414C|MIR7-1_uc004ano.1_5'Flank NM_031262 NP_112552 P61978 HNRPK_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA. 414 2 X 22 AA approximate repeats.|KH 3. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 GACTCATGACGGATTTGTTTAA 0.381000 29 28 0 0 0.004672 0 0 CLNK 116449 broad.mit.edu 37 4 10542157 10542157 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:10542157G>A uc003gmo.4 - 10 700 c.563C>T c.(562-564)tCt>tTt p.S188F CLNK_uc003gmp.3_Missense_Mutation_p.S146F NM_052964 NP_443196 Q7Z7G1 CLNK_HUMAN Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA. 188 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 GTGTCTCTGAGATAAAGGTGG 0.547000 31 24 0 0 0.009535 0 0 PFKFB3 5209 broad.mit.edu 37 10 6264931 6264931 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:6264931C>T uc001ije.3 + 10 1581 c.1197C>T c.(1195-1197)ttC>ttT p.F399F PFKFB3_uc001ijd.3_Silent_p.F379F|PFKFB3_uc009xii.3_Intron|PFKFB3_uc010qaw.2_Silent_p.F413F|PFKFB3_uc001ijf.3_Silent_p.F399F|PFKFB3_uc001ijg.3_5'Flank|PFKFB3_uc009xij.3_5'Flank|PFKFB3_uc009xik.3_5'Flank|PFKFB3_uc009xil.3_5'Flank NM_004566 NP_004557 Q16875 F263_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA. 399 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 TTGCCTACTTCCTGGATAAGA 0.667000 17 7 0 0 0.003080 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153840535 153840535 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:153840535C>T uc021xgc.1 + 1 1038 c.754C>T c.(754-756)Ccg>Tcg p.P252S ARHGEF26-AS1_uc003ezu.1_5'Flank|ARHGEF26_uc011bog.1_Missense_Mutation_p.P252S|ARHGEF26_uc011boh.1_Missense_Mutation_p.P252S NM_001251962 NP_001238891 Q96DR7 ARHGQ_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA. 252 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 GCAGATCATTCCGAAGAGTCT 0.532000 7 8 0 0 0.003080 0 0 KRT37 8688 broad.mit.edu 37 17 39580346 39580346 + Nonsense_Mutation SNP C A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:39580346C>A uc002hwp.1 - 0 477 c.430G>T c.(430-432)Gag>Tag p.E144* NM_003770 NP_003761 O76014 KRT37_HUMAN Homo sapiens keratin 37 (KRT37), mRNA. 144 Linker 1.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) ACGGTGGACTCGTGGCACTTG 0.607000 52 25 2.27525e-19 2.42792e-19 0.003954 1 0 DNAH5 1767 broad.mit.edu 37 5 13820501 13820501 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:13820501C>T uc003jfd.2 - 40 6837 c.6795G>A c.(6793-6795)ggG>ggA p.G2265G NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2265 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTTCCCAGCCCCACTGGGCC 0.542000 Kartagener syndrome 30 16 0 0 0.003163 0 0 OBSL1 23363 broad.mit.edu 37 2 220431775 220431775 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:220431775G>A uc010fwk.3 - 4 2225 c.1911C>T c.(1909-1911)ctC>ctT p.L637L OBSL1_uc010fwl.2_Silent_p.L637L|OBSL1_uc002vmi.3_Silent_p.L637L NM_015311 NP_056126 O75147 OBSL1_HUMAN Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA. 637 cardiac myofibril assembly M band|Z disc|intercalated disc|perinuclear region of cytoplasm cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TGGAGAGATCGAGGGAGAAGA 0.612000 7 8 0 0 0.003080 0 0 DUSP15 128853 broad.mit.edu 37 20 30436348 30436348 + Silent SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:30436348A>G uc002wwu.1 - 9 824 c.747T>C c.(745-747)ccT>ccC p.P249P FOXS1_uc002wwt.1_5'Flank Q9H1R2 DUS15_HUMAN Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA. 249 cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1)|lung(4)|pancreas(1)|stomach(1) 7 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ACGAGCTCCCAGGCCGAAGCT 0.637000 8 4 0 0 0.000602 0 0 SLC25A32 81034 broad.mit.edu 37 8 104419988 104419988 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:104419988G>A uc003yll.3 - 1 482 c.179C>T c.(178-180)cCg>cTg p.P60L SLC25A32_uc011lhr.2_5'UTR NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA. 60 folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 9 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) ATTATATTTCGGTCTCAGTTC 0.403000 34 31 0 0 0.010818 0 0 MMP20 9313 broad.mit.edu 37 11 102496038 102496038 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:102496038G>A uc001phc.3 - 0 26 c.13C>T c.(13-15)Cct>Tct p.P5S NM_004771 NP_004762 O60882 MMP20_HUMAN Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA. 5 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) CCAGATGCAGGGAGCACCTTC 0.532000 7 9 0 0 0.004482 0 0 CACNB3 784 broad.mit.edu 37 12 49220860 49220860 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:49220860C>T uc001rsl.2 + 11 1553 c.1094C>T c.(1093-1095)cCt>cTt p.P365L CACNB3_uc010sly.2_Missense_Mutation_p.P352L|CACNB3_uc010slz.2_Missense_Mutation_p.P364L|CACNB3_uc001rsk.2_Missense_Mutation_p.P212L|CACNB3_uc021qxm.1_Missense_Mutation_p.P324L NM_000725 NP_000716 P54284 CACB3_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA. 365 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) CACCCAGCCCCTGGCCCCGGA 0.597000 78 42 0 0 0.011902 0 0 PDE1A 5136 broad.mit.edu 37 2 183070667 183070667 + Splice_Site SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:183070667C>T uc002uos.3 - 9 1034 c.950_splice c.e9+1 p.R317_splice PDE1A_uc010zfp.1_Splice_Site_p.R213_splice|PDE1A_uc002uoq.1_Splice_Site_p.R317_splice|PDE1A_uc010zfq.1_Splice_Site_p.R317_splice|PDE1A_uc002uor.3_Splice_Site_p.R301_splice|PDE1A_uc002uou.3_Splice_Site_p.R283_splice NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 317 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TGAAACTCACCTCCAGTCATC 0.363000 23 7 0 0 0.004482 0 0 AKAP11 11215 broad.mit.edu 37 13 42875638 42875638 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:42875638C>T uc001uys.2 + 7 2931 c.2756C>T c.(2755-2757)tCc>tTc p.S919F NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA. 919 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CCTCCATTTTCCCACTGTGAT 0.358000 20 18 0 0 0.007413 0 0 IRF6 3664 broad.mit.edu 37 1 209968651 209968651 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:209968651G>A uc001hhq.2 - 4 796 c.492C>T c.(490-492)ccC>ccT p.P164P IRF6_uc010psm.2_Silent_p.P69P NM_006147 NP_001193625 O14896 IRF6_HUMAN Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA. 164 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TGTTCAGGAAGGGGAAGGTGT 0.498000 HNSCC(57;0.16) 68 149 0 0 0.014410 0 0 SPINK5 11005 broad.mit.edu 37 5 147480127 147480127 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:147480127C>T uc003lox.2 + 12 1276 c.1203C>T c.(1201-1203)tcC>tcT p.S401S SPINK5_uc010jgs.1_Silent_p.S373S|SPINK5_uc010jgr.2_Silent_p.S382S|SPINK5_uc003low.2_Silent_p.S401S|SPINK5_uc003loy.2_Silent_p.S401S NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 401 Kazal-like 6. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity p.S401F(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACCTGCTCCATGTGTGAGG 0.478000 28 32 0 0 0.003755 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232649942 232649942 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:232649942C>T uc001hvg.3 - 0 1302 c.1144G>A c.(1144-1146)Ggg>Agg p.G382R NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 382 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TCCTTGCTCCCTAAAGGGGAC 0.507000 168 39 0 0 0.006230 0 0 DNAH2 146754 broad.mit.edu 37 17 7678168 7678168 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:7678168C>T uc002giu.1 + 27 4607 c.4593C>T c.(4591-4593)ttC>ttT p.F1531F NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1531 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GACATATTTTCCCCCGCTTCT 0.458000 43 37 0 0 0.004878 0 0 CLRN1 7401 broad.mit.edu 37 3 150690456 150690456 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:150690456C>T uc021xfs.1 - 0 331 c.40G>A c.(40-42)Gga>Aga p.G14R CLRN1-AS1_uc011bny.1_Intron|CLRN1-AS1_uc003eyl.2_5'Flank|CLRN1_uc003eyk.1_Missense_Mutation_p.G14R|CLRN1_uc021xft.1_Non-coding_Transcript|CLRN1_uc021xfu.1_Non-coding_Transcript|CLRN1_uc021xfv.1_Missense_Mutation_p.G14R|CLRN1_uc021xfw.1_Non-coding_Transcript NM_001195794 NP_001182723 P58418 CLRN1_HUMAN Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA. 14 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CTGAACACTCCGGCCATGCAA 0.502000 36 26 0 0 0.004656 0 0 KIAA1217 56243 broad.mit.edu 37 10 24833908 24833908 + Splice_Site SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:24833908A>C uc001iru.4 + 20 5615 c.5212_splice c.e20-2 p.G1738_splice KIAA1217_uc001irs.3_Splice_Site_p.G1059_splice|KIAA1217_uc001irt.4_Splice_Site_p.G1104_splice|KIAA1217_uc010qcy.2_Splice_Site_p.G1169_splice|KIAA1217_uc010qcz.2_Splice_Site_p.G1144_splice|KIAA1217_uc001irw.3_Splice_Site_p.G888_splice|KIAA1217_uc001irz.3_Splice_Site_p.G822_splice|KIAA1217_uc001irx.3_Splice_Site_p.G1421_splice|KIAA1217_uc001iry.3_Splice_Site_p.G862_splice NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1738 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TCCTTCCCACAGGGCTCCAGC 0.602000 98 74 0 0 0.014410 0 0 ARGFX 503582 broad.mit.edu 37 3 121289622 121289622 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:121289622C>T uc003eef.3 + 1 157 c.62C>T c.(61-63)tCc>tTc p.S21F NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 21 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) AGGAATTATTCCAACATGAAG 0.478000 36 33 0 0 0.009718 0 0 FFAR1 2864 broad.mit.edu 37 19 35843008 35843008 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:35843008G>A uc002nzc.2 + 0 564 c.554G>A c.(553-555)aGc>aAc p.S185N NM_005303 NP_005294 O14842 FFAR1_HUMAN Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA. 185 energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) GCCCGCTTCAGCCTCTCTCTC 0.682000 16 13 0 0 0.002450 0 0 HERC5 51191 broad.mit.edu 37 4 89421091 89421091 + Missense_Mutation SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:89421091T>A uc003hrt.3 + 18 2612 c.2459T>A c.(2458-2460)cTt>cAt p.L820H HERC5_uc011cdm.2_Missense_Mutation_p.L458H NM_016323 NP_057407 Q9UII4 HERC5_HUMAN Homo sapiens hect domain and RLD 5 (HERC5), mRNA. 820 HECT. ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TTGCAAACACTTCTGGATGAT 0.294000 39 30 0 0 0.012213 0 0 KIFC3 3801 broad.mit.edu 37 16 57803756 57803757 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:57803756_57803757GG>AA uc002emq.3 - 7 1247_1248 c.1050_1051CC>TT c.(1048-1053)gcccag>gcTTag p.Q351* KIFC3_uc010vhw.2_Nonsense_Mutation_p.Q249*|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Nonsense_Mutation_p.Q212*|KIFC3_uc010vhx.2_Nonsense_Mutation_p.Q212*|KIFC3_uc010cdf.3_Nonsense_Mutation_p.Q212*|KIFC3_uc002emo.4_Nonsense_Mutation_p.Q212*|KIFC3_uc010vhy.2_Nonsense_Mutation_p.Q293*|KIFC3_uc002emp.3_Nonsense_Mutation_p.Q351*|KIFC3_uc010vhz.2_Nonsense_Mutation_p.Q373*|KIFC3_uc002emr.1_Nonsense_Mutation_p.Q128* NM_001130100 NP_001123571 Q9BVG8 KIFC3_HUMAN Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA. 351 epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(199;0.224) ATCTCCACCTGGGCTCTGGCAA 0.644000 21 21 0 0 0.004672 0 0 PRKD2 25865 broad.mit.edu 37 19 47219569 47219569 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:47219569G>A uc002pfh.3 - 1 401 c.59C>T c.(58-60)cCt>cTt p.P20L PRKD2_uc002pfg.3_5'Flank|PRKD2_uc002pfi.3_Missense_Mutation_p.P20L|PRKD2_uc002pfj.3_Missense_Mutation_p.P20L|PRKD2_uc010xye.2_Missense_Mutation_p.P20L|PRKD2_uc002pfk.3_Intron NM_001079881 NP_001073351 Q9BZL6 KPCD2_HUMAN Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA. 20 T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GGGGGGCGGAGGAGACCCCGG 0.761000 16 10 0 0 0.008291 0 0 CDH6 1004 broad.mit.edu 37 5 31317540 31317540 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:31317540C>T uc003jhe.2 + 9 1931 c.1571C>T c.(1570-1572)tCg>tTg p.S524L CDH6_uc003jhd.2_Missense_Mutation_p.S524L NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 524 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACCAATTTTCGTTTTCCTTG 0.403000 40 27 0 0 0.006320 0 0 PCDH15 65217 broad.mit.edu 37 10 55755479 55755479 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:55755479C>T uc010qhy.1 - 21 3208 c.2813G>A c.(2812-2814)gGg>gAg p.G938E PCDH15_uc010qhq.2_Missense_Mutation_p.G938E|PCDH15_uc010qhr.2_Missense_Mutation_p.G933E|PCDH15_uc021pqv.1_Missense_Mutation_p.G933E|PCDH15_uc021pqw.1_Missense_Mutation_p.G945E|PCDH15_uc010qht.2_Missense_Mutation_p.G940E|PCDH15_uc021pqx.1_Missense_Mutation_p.G933E|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.G933E|PCDH15_uc021pqz.1_Missense_Mutation_p.G911E|PCDH15_uc010qhv.1_Missense_Mutation_p.G933E|PCDH15_uc010qhw.1_Missense_Mutation_p.G896E|PCDH15_uc010qhx.1_Missense_Mutation_p.G862E|PCDH15_uc010qhz.1_Missense_Mutation_p.G933E|PCDH15_uc010qia.1_Missense_Mutation_p.G911E|PCDH15_uc001jju.1_Missense_Mutation_p.G933E|PCDH15_uc010qib.1_Missense_Mutation_p.G911E|PCDH15_uc001jjw.3_Missense_Mutation_p.G933E NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 933 Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AGCCACCATCCCTTTGTATAT 0.398000 HNSCC(58;0.16) 26 22 0 0 0.010504 0 0 UPF1 5976 broad.mit.edu 37 19 18971159 18971159 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:18971159C>T uc002nkg.3 + 15 2520 c.2245C>T c.(2245-2247)Cag>Tag p.Q749* UPF1_uc002nkf.3_Nonsense_Mutation_p.Q738*|UPF1_uc002nkh.3_5'UTR NM_002911 NP_002902 Q92900 RENT1_HUMAN Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA. 749 DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 ATTTGACTTCCAGTGGCCCCA 0.552000 86 63 0 0 0.014410 0 0 NEB 4703 broad.mit.edu 37 2 152501044 152501044 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:152501044C>T uc021vrb.1 - 53 7611 c.7582G>A c.(7582-7584)Gat>Aat p.D2528N NEB_uc002txu.3_Missense_Mutation_p.D2528N|NEB_uc021vrc.1_Missense_Mutation_p.D2528N|NEB_uc010fnx.3_Missense_Mutation_p.D2528N|NEB_uc021vrd.1_Missense_Mutation_p.D2528N NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2528 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACAGGAAGATCGTAACCTTTT 0.388000 44 41 0 0 0.010771 0 0 COPA 1314 broad.mit.edu 37 1 160261985 160261985 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:160261985C>T uc001fvv.4 - 28 3385 c.2991G>A c.(2989-2991)aaG>aaA p.K997K COPA_uc009wti.3_Silent_p.K988K NM_001098398 NP_001091868 P53621 COPA_HUMAN Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA. 988 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCCCTGCATCCTTCCTGGAAA 0.498000 98 197 0 0 0.014410 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50455624 50455624 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:50455624C>T uc010ybh.2 - 8 1770 c.1679G>A c.(1678-1680)gGc>gAc p.G560D SIGLEC11_uc010ybi.2_Missense_Mutation_p.G464D NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 560 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) AGCCCCCAGGCCAAGTCCTCC 0.657000 38 27 0 0 0.007291 0 0 ACTL8 81569 broad.mit.edu 37 1 18152851 18152851 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:18152851G>A uc001bat.3 + 2 1154 c.938G>A c.(937-939)aGg>aAg p.R313K NM_030812 NP_110439 Q9H568 ACTL8_HUMAN Homo sapiens actin-like 8 (ACTL8), mRNA. 313 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CGCCTGTTCAGGGAGCTGATG 0.617000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 35 0 0 0.010771 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228679 57228679 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:57228679C>T uc010lyk.1 - 1 866 c.228G>A c.(226-228)ggG>ggA p.G76G SDR16C5_uc003xsy.1_Silent_p.G76G|SDR16C5_uc010lyl.1_Silent_p.G76G NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 76 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity p.E75K(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 TTTCCTCATTCCCCTCCTTAT 0.522000 58 47 0 0 0.013114 0 0 DSCAM 1826 broad.mit.edu 37 21 41741060 41741060 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:41741060C>T uc002yyq.1 - 3 1073 c.621G>A c.(619-621)acG>acA p.T207T DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 207 Ig-like C2-type 2. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.T207T(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGCTCTGCCTCGTCTCTCCGG 0.448000 38 18 0 0 0.008871 0 0 VSTM4 196740 broad.mit.edu 37 10 50255061 50255061 + Silent SNP C T T rs142214220 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:50255061C>T uc001jhf.2 - 6 833 c.804G>A c.(802-804)ccG>ccA p.P268P NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA. 268 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 TCAGCAGCTTCGGTTTATGGA 0.473000 149 98 0 0 0.014410 0 0 LMAN1 3998 broad.mit.edu 37 18 56998729 56998729 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:56998729G>A uc002lhz.3 - 11 1449 c.1417C>T c.(1417-1419)Cca>Tca p.P473S NM_005570 NP_005561 P49257 LMAN1_HUMAN Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA. 473 ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) AAACATGATGGAAATGGTGGT 0.343000 42 17 0 0 0.007413 0 0 LOC646214 646214 broad.mit.edu 37 15 21938081 21938081 + RNA SNP C T T rs113837443 by1000genomes TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:21938081C>T uc010tzj.1 - 0 c.2659G>A Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. CTCATTCGCACGGGAGGTGCT 0.512000 228 46 0 0 0.014410 0 0 FLII 2314 broad.mit.edu 37 17 18160274 18160274 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:18160274G>A uc002gsr.1 - 1 174 c.123C>T c.(121-123)aaC>aaT p.N41N FLII_uc002gsq.1_5'Flank|FLII_uc010vxn.1_Silent_p.N10N|FLII_uc010vxo.1_Silent_p.N41N|FLII_uc002gss.1_Silent_p.N41N NM_002018 NP_002009 Q13045 FLII_HUMAN Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA. 41 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GGCCAGTGCGGTTCAGCTTCA 0.647000 18 5 0 0 0.003080 0 0 LAMA5 3911 broad.mit.edu 37 20 60910129 60910129 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:60910129G>A uc002ycq.3 - 19 2497 c.2430C>T c.(2428-2430)tcC>tcT p.S810S LAMA5_uc021wfw.1_Silent_p.S810S|MIR4758_uc021wfx.1_5'Flank NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 810 Laminin EGF-like 10. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATCCTTGCAGGACGCGCAGG 0.667000 31 22 0 0 0.003330 0 0 PDE12 201626 broad.mit.edu 37 3 57543412 57543412 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:57543412C>T uc003diw.4 + 0 1432 c.1306C>T c.(1306-1308)Cag>Tag p.Q436* PDE12_uc003div.3_Nonsense_Mutation_p.Q436* NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN Homo sapiens phosphodiesterase 12 (PDE12), mRNA. 436 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) TTCTGTTCTTCAGGTAAAGTA 0.512000 27 24 0 0 0.003330 0 0 POLR3B 55703 broad.mit.edu 37 12 106889893 106889893 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:106889893C>T uc001tlp.3 + 23 2996 c.2774C>T c.(2773-2775)cCg>cTg p.P925L POLR3B_uc001tlq.3_Missense_Mutation_p.P867L NM_018082 NP_001154180 Q9NW08 RPC2_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA. 925 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 GGCATCTGTCCGGACATCATC 0.493000 87 50 0 0 0.014410 0 0 ALDH1A3 220 broad.mit.edu 37 15 101427813 101427813 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:101427813G>A uc002bwn.4 + 2 345 c.241G>A c.(241-243)Gcc>Acc p.A81T ALDH1A3_uc010bpb.3_Missense_Mutation_p.A81T NM_000693 NP_000684 P47895 AL1A3_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA. 81 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) TGCACAGGTTGCCTTCCAGAG 0.627000 70 56 0 0 0.014410 0 0 TTC39A 22996 broad.mit.edu 37 1 51754542 51754542 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:51754542C>T uc001csl.3 - 16 1792 c.1687G>A c.(1687-1689)Gaa>Aaa p.E563K TTC39A_uc001csk.3_Missense_Mutation_p.E528K|TTC39A_uc010ond.2_Missense_Mutation_p.E500K|TTC39A_uc010one.2_Missense_Mutation_p.E527K|TTC39A_uc010onf.2_Missense_Mutation_p.E531K|TTC39A_uc001csj.3_Missense_Mutation_p.E164K NM_001080494 NP_001073963 Q5SRH9 TT39A_HUMAN Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA. 563 binding p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 ATGGCCTCTTCGTTTCTGTCT 0.502000 7 8 0 0 0.003080 0 0 GPR98 84059 broad.mit.edu 37 5 89979669 89979669 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:89979669G>A uc003kju.3 + 27 6027 c.5931G>A c.(5929-5931)ggG>ggA p.G1977G GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1977 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATCCATATGGGATATTCATTT 0.398000 26 17 0 0 0.006122 0 0 FSD2 123722 broad.mit.edu 37 15 83440853 83440853 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:83440853C>T uc002bjd.2 - 6 1406 c.1239G>A c.(1237-1239)caG>caA p.Q413Q FSD2_uc010uol.1_Silent_p.Q413Q|FSD2_uc010uom.1_Silent_p.Q413Q NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA. 413 Fibronectin type-III 1. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 GTGAGCTGTCCTGCACTGGCC 0.612000 10 12 0 0 0.001855 0 0 NBAS 51594 broad.mit.edu 37 2 15307200 15307200 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:15307200G>A uc002rcc.1 - 51 7114 c.7088C>T c.(7087-7089)gCc>gTc p.A2363V NBAS_uc002rcb.1_Missense_Mutation_p.A203V|NBAS_uc010exl.1_Missense_Mutation_p.A1435V|NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 2363 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TGCGCGGAGGGCTGTACTGAA 0.612000 40 30 0 0 0.010818 0 0 C6 729 broad.mit.edu 37 5 41161948 41161948 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:41161948C>T uc003jmk.2 - 9 1515 c.1305G>A c.(1303-1305)caG>caA p.Q435Q C6_uc003jml.1_Silent_p.Q435Q NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 435 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCTCTGCTCCCTGTATAAATG 0.398000 21 25 0 0 0.004656 0 0 KLHDC4 54758 broad.mit.edu 37 16 87744986 87744986 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:87744986G>A uc002fki.3 - 8 1001 c.899C>T c.(898-900)tCc>tTc p.S300F KLHDC4_uc002fkh.1_5'Flank|KLHDC4_uc010cht.2_Missense_Mutation_p.S119F|KLHDC4_uc002fkj.3_Missense_Mutation_p.S269F|KLHDC4_uc002fkl.3_Missense_Mutation_p.S243F|KLHDC4_uc010chu.1_Missense_Mutation_p.S119F NM_017566 NP_060036 Q8TBB5 KLDC4_HUMAN Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA. 300 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) CATGGCCACGGAAAAGCCAGA 0.557000 26 28 0 0 0.010818 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146659 70146659 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:70146659C>T uc003hej.3 + 0 443 c.441C>T c.(439-441)atC>atT p.I147I UGT2B28_uc010ihr.3_Silent_p.I147I NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 147 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GATTTGACATCATTTTTGCAG 0.368000 63 30 0 0 0.008361 0 0 MYO16 23026 broad.mit.edu 37 13 109793523 109793523 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:109793523C>T uc010agk.2 + 31 5585 c.4963C>T c.(4963-4965)Ccc>Tcc p.P1655S MYO16_uc001vqt.1_Missense_Mutation_p.P1633S NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 1633 Pro-rich. cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane ATP binding|actin filament binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CAGCTCCTTCCCCAAGATCCC 0.716000 19 13 0 0 0.004007 0 0 CCDC14 64770 broad.mit.edu 37 3 123634533 123634533 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:123634533G>A uc011bjx.2 - 12 2046 c.1955C>T c.(1954-1956)tCc>tTc p.S652F CCDC14_uc003egv.4_Missense_Mutation_p.S293F|CCDC14_uc003egx.4_Missense_Mutation_p.S452F|CCDC14_uc010hrt.3_Missense_Mutation_p.S611F|CCDC14_uc003egy.4_Missense_Mutation_p.S452F|CCDC14_uc003egz.2_Intron NM_022757 NP_073594 Q49A88 CCD14_HUMAN Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA. 652 centrosome p.S652N(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) ACTAAGATCGGAGAGAAGCTT 0.383000 79 44 0 0 0.014410 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318427 30318427 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:30318427C>T uc009xle.2 - 2 787 c.650G>A c.(649-651)gGa>gAa p.G217E KIAA1462_uc001iux.3_Missense_Mutation_p.G217E|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G79E NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 217 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CACATGTTCTCCTTGAATGAA 0.483000 97 57 0 0 0.014410 0 0 DNAH10 196385 broad.mit.edu 37 12 124315175 124315175 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:124315175G>A uc001uft.4 + 24 4145 c.4120G>A c.(4120-4122)Gaa>Aaa p.E1374K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1374 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GTTTGCTATGGAACTGCACAA 0.403000 32 26 0 0 0.003330 0 0 DNAH2 146754 broad.mit.edu 37 17 7691242 7691242 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:7691242G>A uc002giu.1 + 41 6682 c.6668G>A c.(6667-6669)gGg>gAg p.G2223E NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 2223 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCCCGCTGCGGGATGGTCTAC 0.527000 36 24 0 0 0.002780 0 0 E2F1 1869 broad.mit.edu 37 20 32267568 32267568 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:32267568G>A uc002wzu.4 - 2 705 c.565C>T c.(565-567)Cag>Tag p.Q189* NM_005225 NP_005216 Q01094 E2F1_HUMAN Homo sapiens E2F transcription factor 1 (E2F1), mRNA. 189 G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle Rb-E2F complex|mitochondrion sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 TACAGCCACTGGATGTGGTTC 0.597000 39 31 0 0 0.005524 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140763816 140763816 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:140763816C>T uc003lka.2 + 0 1350 c.1350C>T c.(1348-1350)ccC>ccT p.P450P PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Silent_p.P450P NM_018920 NP_061743 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA. 452 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAACCCACCCACCTTCCCCC 0.512000 33 15 0 0 0.004990 0 0 CD300E 342510 broad.mit.edu 37 17 72613400 72613400 + Missense_Mutation SNP G A A rs148103699 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:72613400G>A uc002jlb.2 - 1 382 c.245C>T c.(244-246)cCg>cTg p.P82L NM_181449 NP_852114 Q496F6 CLM2_HUMAN Homo sapiens CD300e molecule (CD300E), mRNA. 82 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 GAGAGCCTCCGGGTGGTCTCT 0.537000 61 78 0 0 0.014410 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507480 74507480 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:74507480G>A uc001dfy.4 - 6 1327 c.1135C>T c.(1135-1137)Cct>Tct p.P379S LRRIQ3_uc001dfz.4_Non-coding_Transcript NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 379 p.P379fs*26(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 GGATATGCAGGAAAAAAATGT 0.353000 37 23 0 0 0.004656 0 0 MCM3 4172 broad.mit.edu 37 6 52143544 52143544 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:52143544G>A uc003pan.1 - 5 985 c.875C>T c.(874-876)tCc>tTc p.S292F MCM3_uc011dwu.1_Missense_Mutation_p.S246F NM_002388 NP_002379 P25205 MCM3_HUMAN Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA. 292 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) CCAGACCTTGGATCGGGTTTT 0.438000 36 33 0 0 0.006230 0 0 POR 5447 broad.mit.edu 37 7 75583414 75583414 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:75583414C>T uc003udy.3 + 1 186 c.104C>T c.(103-105)tCg>tTg p.S35L NM_000941 NP_000932 P16435 NCPR_HUMAN Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA. 32 cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane NADPH-hemoprotein reductase activity|iron ion binding central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1) 9 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) ATTCTGTTTTCGCTCATCGTG 0.502000 9 6 0 0 0.001984 0 0 DDX50 79009 broad.mit.edu 37 10 70670829 70670830 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:70670829_70670830GG>AA uc001jou.3 + 3 573_574 c.466_467GG>AA c.(466-468)ggg>AAg p.G156K DDX50_uc001jot.3_Missense_Mutation_p.G156K NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA. 156 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 TACAGGTCGAGGGGTAACATAT 0.322000 60 29 0 0 0.004672 0 0 C11orf74 119710 broad.mit.edu 37 11 36631725 36631725 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:36631725C>T uc001mwy.1 + 1 145 c.72C>T c.(70-72)ttC>ttT p.F24F C11orf74_uc001mwx.1_Non-coding_Transcript|C11orf74_uc001mwz.1_Silent_p.F24F|C11orf74_uc010rfe.1_Non-coding_Transcript|C11orf74_uc010rfd.2_Non-coding_Transcript NM_138787 NP_620142 Q86VG3 CK074_HUMAN Homo sapiens chromosome 11 open reading frame 74 (C11orf74), mRNA. 24 breast(1)|kidney(1)|large_intestine(1)|lung(5) 8 all_lung(20;0.226) all_hematologic(20;0.0118) TGGATAAATTCCTTAATTGTC 0.358000 29 18 0 0 0.007413 0 0 F13B 2165 broad.mit.edu 37 1 197021920 197021920 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:197021920C>T uc001gtt.1 - 8 1443 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 467 Sushi 8. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CACTTCATTTCTATGTTATTT 0.303000 134 24 0 0 0.002780 0 0 FAM47A 158724 broad.mit.edu 37 X 34149531 34149531 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:34149531C>T uc004ddg.3 - 0 917 c.865G>A c.(865-867)Gaa>Aaa p.E289K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 289 p.E289K(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TCTGTGGGTTCGTCAGTTGTC 0.572000 3 15 0 0 0.002450 0 0 MKKS 8195 broad.mit.edu 37 20 10393632 10393632 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:10393632C>T uc002wnt.1 - 2 1418 c.531G>A c.(529-531)ttG>ttA p.L177L MKKS_uc002wnu.1_Silent_p.L177L|MKKS_uc010zrd.1_Intron NM_018848 NP_740754 Q9NPJ1 MKKS_HUMAN Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA. 177 brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2) 16 CTCTCAGGATCAAAGCACTGA 0.383000 35 22 0 0 0.002780 0 0 PNMT 5409 broad.mit.edu 37 17 37826577 37826577 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:37826577C>T uc002hsi.1 + 2 1006 c.784C>T c.(784-786)Ctt>Ttt p.L262F NM_002686 NP_002677 P11086 PNMT_HUMAN Homo sapiens phenylethanolamine N-methyltransferase (PNMT), mRNA. 262 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCCTGCCCACCTTCAGACAGG 0.632000 14 10 0 0 0.010729 0 0 LOC100132247 0 broad.mit.edu 37 16 21854860 21854860 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:21854860G>A uc002djr.3 - 5 574 c.392C>T c.(391-393)tCc>tTc p.S131F LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Missense_Mutation_p.S112F|LOC100132247_uc010vbn.1_Missense_Mutation_p.S131F NM_001135865 NP_001129337 Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA. TCCTCGAAAGGAAGAAACTCT 0.428000 427 54 0 0 0.014410 0 0 GRID2 2895 broad.mit.edu 37 4 94006221 94006221 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:94006221C>T uc011cdt.2 + 2 578 c.320C>T c.(319-321)tCt>tTt p.S107F GRID2_uc010ikx.3_Missense_Mutation_p.S107F|GRID2_uc011cdu.2_Intron|GRID2_uc011cdv.1_Non-coding_Transcript NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 107 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCCCTCCAGTCTTTGGCAGAC 0.537000 35 17 0 0 0.007413 0 0 ATP6V0D1 9114 broad.mit.edu 37 16 67487503 67487503 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:67487503G>A uc010vjo.1 - 1 346 c.246C>T c.(244-246)ttC>ttT p.F82F ATP6V0D1_uc002ete.1_Silent_p.F82F|ATP6V0D1_uc010vjn.1_Silent_p.F5F NM_004691 NP_004682 P61421 VA0D1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA. 82 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex large_intestine(3)|lung(3)|urinary_tract(2) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) TCATGTGGCGGAACTCCACCA 0.532000 34 28 0 0 0.007291 0 0 STRN 6801 broad.mit.edu 37 2 37076681 37076681 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:37076681G>A uc002rpn.3 - 17 2270 c.2261C>T c.(2260-2262)tCg>tTg p.S754L STRN_uc010ezx.3_Missense_Mutation_p.S717L NM_003162 NP_003153 O43815 STRN_HUMAN Homo sapiens striatin, calmodulin binding protein (STRN), mRNA. 754 Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) ATCATGAATCGATTCTTCAAA 0.393000 27 24 0 0 0.004656 0 0 AIM1 202 broad.mit.edu 37 6 106973044 106973044 + Missense_Mutation SNP C G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:106973044C>G uc003prh.3 + 2 3970 c.3058C>G c.(3058-3060)Cga>Gga p.R1020G NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 1020 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) ACTCAATCCCCGACCTGGAAA 0.368000 6 21 0 0 0.010504 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129015583 129015583 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:129015583A>T uc003kvb.1 + 16 2615 c.2615A>T c.(2614-2616)aAa>aTa p.K872I ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 872 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ATCTCTGCCAAAGGTCCTACT 0.428000 35 23 0 0 0.014323 0 0 RYR3 6263 broad.mit.edu 37 15 33895388 33895388 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:33895388G>A uc001zhi.3 + 17 2057 c.1987G>A c.(1987-1989)Gag>Aag p.E663K RYR3_uc010bar.3_Missense_Mutation_p.E663K NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 663 B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.E663K(2) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTGGTACTTCGAGCTGATTAT 0.567000 78 48 0 0 0.014410 0 0 FRAS1 80144 broad.mit.edu 37 4 79328974 79328974 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:79328974G>A uc003hlb.2 + 30 4727 c.4287G>A c.(4285-4287)caG>caA p.Q1429Q FRAS1_uc003hkw.3_Silent_p.Q1429Q NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1428 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCCCAGCCCAGAGCGACTCCT 0.512000 16 15 0 0 0.003163 0 0 OR6C70 390327 broad.mit.edu 37 12 55863029 55863029 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:55863029G>A uc010spn.2 - 0 894 c.894C>T c.(892-894)gcC>gcT p.A298A NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA. 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 CAGCTTTGAAGGCTTGTTTAA 0.328000 33 20 0 0 0.002780 0 0 HDHD3 81932 broad.mit.edu 37 9 116136008 116136008 + Missense_Mutation SNP G C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:116136008G>C uc022bme.1 - 0 627 c.627C>G c.(625-627)ttC>ttG p.F209L HDHD3_uc004bhi.1_Missense_Mutation_p.F209L|HDHD3_uc004bhk.3_Missense_Mutation_p.F209L NM_031219 NP_112496 Q9BSH5 HDHD3_HUMAN Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA. 209 phosphoglycolate phosphatase activity|protein binding large_intestine(2)|liver(1) 3 CAACCACCAGGAAGCTGTGCA 0.587000 41 28 0 0 0.007291 0 0 SLC10A3 8273 broad.mit.edu 37 X 153717110 153717110 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:153717110G>A uc022cig.1 - 0 170 c.170C>T c.(169-171)aCc>aTc p.T57I UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.T57I|SLC10A3_uc004flq.3_Missense_Mutation_p.T57I|SLC10A3_uc004flp.3_Missense_Mutation_p.T57I NM_019848 NP_062822 P09131 P3_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA. 57 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGGTGGCACGGTGTGACCCCC 0.612000 8 38 0 0 0.007835 0 0 C3 718 broad.mit.edu 37 19 6709731 6709731 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:6709731G>A uc002mfm.3 - 13 1871 c.1809C>T c.(1807-1809)ttC>ttT p.F603F NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 603 F -> V (in AHUS5). G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TATTCAGCACGAACACGCCCT 0.617000 109 67 0 0 0.014410 0 0 CCDC141 285025 broad.mit.edu 37 2 179714790 179714790 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179714790C>T uc002une.2 - 20 3461 c.3343G>A c.(3343-3345)Gaa>Aaa p.E1115K CCDC141_uc002unf.1_Missense_Mutation_p.E594K NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 540 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) AGTTTTTCTTCGAGCTCTGTG 0.323000 38 23 0 0 0.002780 0 0 RYR2 6262 broad.mit.edu 37 1 237778111 237778111 + Nonsense_Mutation SNP C T T rs79660660 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:237778111C>T uc001hyl.1 + 36 5803 c.5683C>T c.(5683-5685)Caa>Taa p.Q1895* NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1895 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGGCCTGCTCCAAATGAAACT 0.483000 39 42 0 0 0.014410 0 0 NPAS4 266743 broad.mit.edu 37 11 66190649 66190649 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:66190649G>A uc001ohx.1 + 4 930 c.754G>A c.(754-756)Gga>Aga p.G252R NPAS4_uc010rpc.1_Intron NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 252 PAS 2. transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 ATCATGGTATGGACTGCTGCA 0.542000 9 10 0 0 0.013537 0 0 DRD5 1816 broad.mit.edu 37 4 9784300 9784300 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:9784300A>G uc003gmb.4 + 0 1043 c.647A>G c.(646-648)aAc>aGc p.N216S NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 216 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) AATGCAGAGAACTGTGACTCC 0.592000 63 34 0 0 0.006999 0 0 CD163L1 283316 broad.mit.edu 37 12 7527122 7527122 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:7527122C>T uc010sge.2 - 12 3381 c.3355G>A c.(3355-3357)Gag>Aag p.E1119K CD163L1_uc001qsy.3_Missense_Mutation_p.E1109K NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 1109 SRCR 10. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AAGTGGGACTCCATTCCTGTG 0.622000 42 30 0 0 0.010818 0 0 GABRQ 55879 broad.mit.edu 37 X 151818907 151818907 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:151818907G>A uc004ffp.1 + 6 785 c.765G>A c.(763-765)ctG>ctA p.L255L NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 255 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) ACATACGCCTGATACTGAAGT 0.517000 22 160 0 0 0.014410 0 0 EMR3 84658 broad.mit.edu 37 19 14740884 14740884 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:14740884G>A uc002mzi.4 - 13 1927 c.1779C>T c.(1777-1779)ttC>ttT p.F593F EMR3_uc010dzp.3_Silent_p.F541F|EMR3_uc010xnv.2_Silent_p.F467F NM_032571 NP_115960 Q9BY15 EMR3_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA. 593 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 CCAAGAAGATGAAGAAGCCTT 0.493000 24 20 0 0 0.010504 0 0 ATP2B1 490 broad.mit.edu 37 12 90018085 90018085 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:90018085C>T uc001tbh.3 - 7 1400 c.1219G>A c.(1219-1221)Gag>Aag p.E407K ATP2B1_uc001tbg.3_Missense_Mutation_p.E407K|ATP2B1_uc001tbf.3_Missense_Mutation_p.E77K NM_001682 NP_001673 P20020 AT2B1_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA. 407 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 GGTGTGCACTCAGCAAGCCAT 0.393000 32 15 0 0 0.006122 0 0 NLRP2 55655 broad.mit.edu 37 19 55496441 55496441 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:55496441C>T uc021vbq.1 + 6 2168 c.2057C>T c.(2056-2058)cCt>cTt p.P686L NLRP2_uc010yfp.2_Missense_Mutation_p.P663L|NLRP2_uc002qij.3_Missense_Mutation_p.P686L|NLRP2_uc010esp.3_Missense_Mutation_p.P664L|NLRP2_uc010esn.3_Missense_Mutation_p.P662L|NLRP2_uc010eso.3_Missense_Mutation_p.P683L NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 686 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CACATGCTTCCTTTCTGGACG 0.453000 67 41 0 0 0.014410 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178770912 178770912 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:178770912G>A uc003mjw.3 - 1 492 c.390C>T c.(388-390)ctC>ctT p.L130L ADAMTS2_uc011dgm.2_Silent_p.L130L NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 130 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CGGGCGCCACGAGGCGGGCGT 0.697000 12 15 0 0 0.002450 0 0 SOBP 55084 broad.mit.edu 37 6 107955660 107955660 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:107955660C>T uc003prx.3 + 5 2116 c.1612C>T c.(1612-1614)Ccc>Tcc p.P538S NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA. 538 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) GGTGCCCATCCCCATCCCCAT 0.667000 4 12 0 0 0.006122 0 0 SCYL2 55681 broad.mit.edu 37 12 100707241 100707242 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:100707241_100707242GG>AA uc001thn.3 + 6 944_945 c.894_895GG>AA c.(892-897)gaggaa>gaAAaa p.E299K SCYL2_uc009ztw.1_Missense_Mutation_p.E126K|SCYL2_uc001thm.1_Missense_Mutation_p.E299K NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA. 299 Protein kinase. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 ATATACCTGAGGAAGTTCGTGA 0.327000 31 12 0 0 0.004672 0 0 EGF 1950 broad.mit.edu 37 4 110909835 110909835 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:110909835G>A uc003hzy.4 + 17 3156 c.2704G>A c.(2704-2706)Ggc>Agc p.G902S EGF_uc011cfu.2_Missense_Mutation_p.G860S|EGF_uc011cfv.2_Missense_Mutation_p.G902S|EGF_uc010imk.3_Intron NM_001963 NP_001954 P01133 EGF_HUMAN Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA. 902 EGF-like 7; calcium-binding (Potential). DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GTGCTCAGAAGGCTACCAAGG 0.547000 61 43 0 0 0.011902 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50463633 50463633 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:50463633G>A uc010ybh.2 - 2 597 c.506C>T c.(505-507)cCc>cTc p.P169L SIGLEC11_uc010ybi.2_Missense_Mutation_p.P169L NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 169 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CGGCTGCCCGGGCTCCAGGGT 0.597000 18 20 0 0 0.010818 0 0 HECTD1 25831 broad.mit.edu 37 14 31578782 31578782 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:31578782G>A uc001wrc.1 - 35 6790 c.6301C>T c.(6301-6303)Cga>Tga p.R2101* HECTD1_uc001wra.1_Nonsense_Mutation_p.R227*|HECTD1_uc001wrb.1_Nonsense_Mutation_p.R227* NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN Homo sapiens HECT domain containing 1 (HECTD1), mRNA. 2101 K-box. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GCTTCACGTCGGTTCTGTAAC 0.433000 14 9 0 0 0.004482 0 0 MYH2 4620 broad.mit.edu 37 17 10429969 10429969 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:10429969C>T uc010coi.3 - 29 4262 c.4134G>A c.(4132-4134)agG>agA p.R1378R AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1378R|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1378 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CGTATTTGGTCCTCCATTGGG 0.542000 101 60 0 0 0.014410 0 0 OVOS2 0 broad.mit.edu 37 12 31286875 31286875 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:31286875C>T uc010sjy.1 - 18 2620 c.2620G>A c.(2620-2622)Gaa>Aaa p.E874K RecName: Full=Ovostatin homolog 2; Flags: Precursor; all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TCCATTCCTTCATTTGGGCAA 0.393000 14 12 0 0 0.008871 0 0 NTN4 59277 broad.mit.edu 37 12 96104261 96104261 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:96104261G>A uc001tei.3 - 4 1587 c.1138C>T c.(1138-1140)Cgt>Tgt p.R380C NTN4_uc009ztf.3_Missense_Mutation_p.R380C|NTN4_uc009ztg.3_Missense_Mutation_p.R343C NM_021229 NP_067052 Q9HB63 NET4_HUMAN Homo sapiens netrin 4 (NTN4), mRNA. 380 Laminin EGF-like 2. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CGCAGGTCACGATAGAAGCCT 0.488000 23 26 0 0 0.007291 0 0 BRD8 10902 broad.mit.edu 37 5 137485414 137485414 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:137485414G>A uc003lcf.1 - 22 3248 c.3193C>T c.(3193-3195)Cct>Tct p.P1065S NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA. 1065 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter NuA4 histone acetyltransferase complex|mitochondrion sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TCGCCTGAAGGGGGCTGGTCT 0.493000 41 11 0 0 0.008291 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29959832 29959832 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:29959832G>A uc004dby.2 + 8 1630 c.1122G>A c.(1120-1122)ttG>ttA p.L374L NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA. 374 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TTGTATGTTTGGTGACCATCT 0.408000 11 54 0 0 0.014410 0 0 MOV10L1 54456 broad.mit.edu 37 22 50563979 50563979 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:50563979G>A uc003bjj.3 + 10 1811 c.1728G>A c.(1726-1728)ggG>ggA p.G576G MOV10L1_uc003bjk.4_Silent_p.G576G|MOV10L1_uc011arp.2_Silent_p.G556G|MOV10L1_uc011arq.1_Silent_p.G337G|MOV10L1_uc010hao.1_Non-coding_Transcript NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 576 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGGCCGAAGGGAGGCCTTCTC 0.468000 40 23 0 0 0.003330 0 0 USHBP1 83878 broad.mit.edu 37 19 17373661 17373662 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:17373661_17373662CC>TT uc002nfs.1 - 3 454_455 c.341_342GG>AA c.(340-342)ggg>gAA p.G114E USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.G50E|USHBP1_uc010eam.1_Missense_Mutation_p.G42E NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 114 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 CATCGGGGGCCCCATTCCCAGG 0.663000 58 40 0 0 0.004672 0 0 TCRVA15 0 broad.mit.edu 37 14 22217917 22217917 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:22217917G>A uc010aiq.1 + 1 347 c.268G>A c.(268-270)Gat>Aat p.D90N TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Missense_Mutation_p.D86N Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96. GAATAAAAAGGATAAACATCT 0.433000 40 26 0 0 0.003954 0 0 KIF12 113220 broad.mit.edu 37 9 116857352 116857352 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:116857352C>T uc004bif.3 - 7 894 c.656G>A c.(655-657)cGa>cAa p.R219Q KIF12_uc004big.3_Non-coding_Transcript NM_138424 NP_612433 Q96FN5 KIF12_HUMAN Homo sapiens kinesin family member 12 (KIF12), mRNA. 352 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 GCTTGCATATCGCAGGGTGCT 0.657000 23 13 0 0 0.001855 0 0 ENPP4 22875 broad.mit.edu 37 6 46107692 46107692 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:46107692G>A uc003oxy.3 + 1 631 c.372G>A c.(370-372)caG>caA p.Q124Q NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA. 124 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 TGACCAATCAGCTTCAGGAAA 0.418000 106 43 0 0 0.014410 0 0 NDNL2 56160 broad.mit.edu 37 15 29561830 29561830 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:29561830G>A uc001zco.3 - 0 191 c.80C>T c.(79-81)cCc>cTc p.P27L FAM189A1_uc010azk.1_Intron NM_138704 NP_619649 Q96MG7 MAGG1_HUMAN Homo sapiens necdin-like 2 (NDNL2), mRNA. 27 regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CGAAGCCCCGGGGTTTCCGCT 0.726000 5 6 0 0 0.001984 0 0 MAPKAPK2 9261 broad.mit.edu 37 1 206903358 206903358 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:206903358C>T uc001hem.2 + 4 816 c.606C>T c.(604-606)atC>atT p.I202I MAPKAPK2_uc001hel.2_Silent_p.I202I NM_032960 NP_116584 P49137 MAPK2_HUMAN Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA. 202 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) CCAACGCCATCCTGAAACTCA 0.493000 150 43 0 0 0.010771 0 0 ADCY8 114 broad.mit.edu 37 8 131916288 131916288 + Splice_Site SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:131916288C>T uc003ytd.4 - 7 1897 c.1641_splice c.e7-1 p.G547_splice ADCY8_uc010mds.3_Splice_Site_p.G547_splice NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 547 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 p.G547G(1) 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) TGTGAATCCTCCTGTGTGTAG 0.458000 HNSCC(32;0.087) 90 63 0 0 0.014410 0 0 FEN1 2237 broad.mit.edu 37 11 61563912 61563912 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:61563912C>T uc021qkj.1 + 0 1079 c.1079C>T c.(1078-1080)cCc>cTc p.P360L FEN1_uc001nsg.3_Missense_Mutation_p.P360L NM_004111 NP_004102 P39748 FEN1_HUMAN Homo sapiens flap structure-specific endonuclease 1 (FEN1), mRNA. 360 DNA replication, removal of RNA primer|S phase of mitotic cell cycle|UV protection|base-excision repair|double-strand break repair|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrion|nucleolus|nucleoplasm 5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 GAGCCAGAACCCAAGGGATCC 0.522000 Editing and processing nucleases 13 5 0 0 0.000602 0 0 TAF1A 9015 broad.mit.edu 37 1 222734783 222734783 + Missense_Mutation SNP C G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:222734783C>G uc009xdz.2 - 9 1372 c.1163G>C c.(1162-1164)tGg>tCg p.W388S TAF1A_uc009xdy.1_Missense_Mutation_p.W79S|TAF1A_uc001hni.2_Missense_Mutation_p.W274S|TAF1A_uc001hnj.3_Missense_Mutation_p.W388S NM_001201536 NP_001188465 Q15573 TAF1A_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA. 388 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) ACTTTTTGCCCAAAAGTAGCT 0.408000 464 341 0 0 0.014410 0 0 VPS13A 23230 broad.mit.edu 37 9 79933216 79933216 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:79933216C>T uc004akr.3 + 40 5282 c.5022C>T c.(5020-5022)acC>acT p.T1674T VPS13A_uc004akp.4_Silent_p.T1674T|VPS13A_uc004akq.4_Silent_p.T1674T|VPS13A_uc004aks.3_Silent_p.T1635T|VPS13A_uc004akt.3_Silent_p.T14T|VPS13A_uc010mpo.1_Silent_p.T270T NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 1674 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTAAGGAAACCATCCCAGAAG 0.308000 58 24 0 0 0.006320 0 0 OR2G2 81470 broad.mit.edu 37 1 247752608 247752608 + Missense_Mutation SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:247752608T>A uc010pyy.2 + 0 947 c.947T>A c.(946-948)aTt>aAt p.I316N NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA. 316 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGAGtaaatattttatgatta 0.328000 33 56 0 0 0.014410 0 0 GPR101 83550 broad.mit.edu 37 X 136113015 136113015 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:136113015C>T uc011mwh.2 - 0 819 c.819G>A c.(817-819)aaG>aaA p.K273K NM_054021 NP_473362 Q96P66 GP101_HUMAN Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA. 273 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) TTCTGCCCTCCTTGGCCTTGA 0.577000 15 74 0 0 0.014410 0 0 COL27A1 85301 broad.mit.edu 37 9 117027228 117027228 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:117027228C>T uc011lxl.2 + 29 3274 c.3274C>T c.(3274-3276)Ccg>Tcg p.P1092S COL27A1_uc004bii.3_Non-coding_Transcript NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 1092 Collagen-like 8.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CCAGGGCAGACCGGGCCGGCC 0.647000 42 30 0 0 0.003271 0 0 OR5M8 219484 broad.mit.edu 37 11 56258383 56258383 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:56258383C>T uc001nix.1 - 0 464 c.464G>A c.(463-465)gGc>gAc p.G155D OR8U8_uc001nit.2_Intron NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA. 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) CTCCATCAGGCCAGTGAGCGC 0.512000 38 31 0 0 0.007291 0 0 HERC2P4 440362 broad.mit.edu 37 16 32163577 32163577 + RNA SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:32163577C>T uc002ecx.3 - 1 c.194G>A Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA. GCACAGGCGACCATCGATGCC 0.592000 22 7 0 0 0.003080 0 0 OGDH 4967 broad.mit.edu 37 7 44747488 44747488 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:44747488C>T uc003tln.3 + 22 3121 c.2962C>T c.(2962-2964)Cgg>Tgg p.R988W OGDH_uc011kbx.2_Missense_Mutation_p.R984W|OGDH_uc011kby.2_Missense_Mutation_p.R838W|OGDH_uc003tlp.3_Missense_Mutation_p.R999W|OGDH_uc011kbz.2_Missense_Mutation_p.R783W NM_002541 NP_002532 Q02218 ODO1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 988 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GTATGCCGGCCGGGACCCAGC 0.647000 36 22 0 0 0.002780 0 0 EXD2 55218 broad.mit.edu 37 14 69695678 69695678 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:69695678C>T uc001xky.3 + 3 725 c.479C>T c.(478-480)aCc>aTc p.T160I EXD2_uc001xkt.3_Missense_Mutation_p.T35I|EXD2_uc001xkv.3_Missense_Mutation_p.T160I|EXD2_uc001xkw.3_Missense_Mutation_p.T35I|EXD2_uc001xku.3_5'UTR|EXD2_uc001xkx.3_Missense_Mutation_p.T35I|EXD2_uc010aqt.3_Missense_Mutation_p.T160I|EXD2_uc010tte.2_Missense_Mutation_p.T160I NM_001193360 NP_060669 Q9NVH0 EXD2_HUMAN Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA. 35 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 GCAGATGGCACCATTTTGAAA 0.517000 50 31 0 0 0.009535 0 0 MYH1 4619 broad.mit.edu 37 17 10398588 10398588 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:10398588G>A uc002gmo.3 - 35 5310 c.5216C>T c.(5215-5217)tCc>tTc p.S1739F AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1739 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTGGATTTGGGAAATGTCTGT 0.433000 64 49 0 0 0.014410 0 0 OR51A4 401666 broad.mit.edu 37 11 4967648 4967648 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:4967648C>T uc010qys.2 - 0 683 c.683G>A c.(682-684)gGa>gAa p.G228E NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGATGCAATTCCCAGTACAGT 0.433000 31 20 0 0 0.008871 0 0 CORO2B 10391 broad.mit.edu 37 15 69007569 69007569 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:69007569C>T uc002arj.4 + 7 1180 c.886C>T c.(886-888)Cgg>Tgg p.R296W CORO2B_uc021spj.1_Missense_Mutation_p.R291W|CORO2B_uc010bic.3_Missense_Mutation_p.R291W|CORO2B_uc002ark.3_Missense_Mutation_p.R63W NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA. 296 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TGGAAACATCCGGTACTACGA 0.607000 78 37 0 0 0.008740 0 0 LRRC27 80313 broad.mit.edu 37 10 134158143 134158143 + Missense_Mutation SNP C T T rs149563961 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:134158143C>T uc010quw.1 + 4 737 c.542C>T c.(541-543)cCa>cTa p.P181L LRRC27_uc001llf.2_Missense_Mutation_p.P181L|LRRC27_uc010quv.1_Missense_Mutation_p.P181L|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.P181L|LRRC27_uc001llj.2_Missense_Mutation_p.P119L|LRRC27_uc001llk.4_Missense_Mutation_p.P54L NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA. 181 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CCCAGAAATCCAACTTCTCAA 0.453000 40 29 0 0 0.006320 0 0 PTPRT 11122 broad.mit.edu 37 20 40790139 40790139 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:40790139G>A uc002xkg.3 - 16 2719 c.2535C>T c.(2533-2535)atC>atT p.I845I PTPRT_uc010ggj.3_Silent_p.I864I|PTPRT_uc010ggi.3_Silent_p.I48I NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 845 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GATGAGTCTGGATCGTGAGGG 0.587000 36 28 0 0 0.009535 0 0 CD163L1 283316 broad.mit.edu 37 12 7531671 7531671 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:7531671G>A uc010sge.2 - 8 2330 c.2304C>T c.(2302-2304)ggC>ggT p.G768G CD163L1_uc001qsy.3_Silent_p.G758G NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 758 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.W767C(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTCCAGTGCAGCCAGAATTCG 0.453000 46 51 0 0 0.014410 0 0 DSC2 1824 broad.mit.edu 37 18 28669485 28669485 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:28669485G>A uc002kwl.4 - 4 1001 c.547C>T c.(547-549)Cgg>Tgg p.R183W DSC2_uc002kwk.4_Missense_Mutation_p.R183W NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 183 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.R183W(3) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) AATAAATTCCGAGGTTCTTGG 0.378000 18 19 0 0 0.006122 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70674078 70674078 + Missense_Mutation SNP C A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:70674078C>A uc003xyl.3 - 2 1647 c.940G>T c.(940-942)Gca>Tca p.A314S SLCO5A1_uc010lzb.3_Missense_Mutation_p.A314S|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.A314S|SLCO5A1_uc010lzc.2_Missense_Mutation_p.A314S NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 314 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TATCCCACTGCAGGGCCAAGT 0.418000 19 20 1.40151e-16 1.49193e-16 0.010504 1 0 UGT1A1 54658 broad.mit.edu 37 2 234590995 234590995 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:234590995A>C uc002vut.3 + 0 412 c.412A>C c.(412-414)Aag>Cag p.K138Q UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.K138Q NM_019077 NP_061950 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA. 141 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) AGAATACTTAAAGGAGAGTTG 0.373000 87 60 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179474049 179474049 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179474049C>T uc021vsy.1 - 221 44509 c.44284G>A c.(44284-44286)Gga>Aga p.G14762R MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8457R|TTN_uc021vta.1_Missense_Mutation_p.G8390R|TTN_uc021vtb.1_Missense_Mutation_p.G8265R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 15689 Fibronectin type-III 6. 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) TGAGATTCTCCCTTTTTGCTG 0.463000 27 12 0 0 0.002450 0 0 FSTL1 11167 broad.mit.edu 37 3 120121692 120121692 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:120121692G>A uc003eds.3 - 8 943 c.768C>T c.(766-768)gcC>gcT p.A256A FSTL1_uc011bjh.2_Silent_p.A221A NM_007085 NP_009016 Q12841 FSTL1_HUMAN Homo sapiens follistatin-like 1 (FSTL1), mRNA. 256 VWFC. BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) AATTTCCACAGGCACAGACAC 0.512000 62 32 0 0 0.003271 0 0 MYOCD 93649 broad.mit.edu 37 17 12639565 12639565 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:12639565G>A uc002gno.2 + 5 802 c.503G>A c.(502-504)cGa>cAa p.R168Q MYOCD_uc002gnn.2_Missense_Mutation_p.R168Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R72Q NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 168 HDAC5-binding (By similarity). cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding p.R168Q(2)|p.R168*(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GATCAGACTCGAAGTGAAGAC 0.527000 109 83 0 0 0.014410 0 0 CRYBB2 1415 broad.mit.edu 37 22 25623912 25623912 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:25623912G>A uc003abp.1 + 3 314 c.266G>A c.(265-267)cGa>cAa p.R89Q NM_000496 NP_000487 P43320 CRBB2_HUMAN Homo sapiens crystallin, beta B2 (CRYBB2), mRNA. 89 Beta/gamma crystallin 'Greek key' 2. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 ACCAGCAGCCGAAGGACGGAC 0.592000 44 32 0 0 0.005524 0 0 HAL 3034 broad.mit.edu 37 12 96370260 96370260 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:96370260G>A uc001tem.1 - 19 2077 c.1780C>T c.(1780-1782)Cgc>Tgc p.R594C HAL_uc010sux.1_Intron|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.R386C NM_002108 NP_002099 P42357 HUTH_HUMAN Homo sapiens histidine ammonia-lyase (HAL), mRNA. 594 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) GCCATGAAGCGATCTTTTATC 0.512000 43 32 0 0 0.009535 0 0 DEFB123 245936 broad.mit.edu 37 20 30037904 30037904 + Missense_Mutation SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:30037904T>A uc002wvy.3 + 1 222 c.131T>A c.(130-132)gTt>gAt p.V44D NM_153324 NP_697019 Q8N688 DB123_HUMAN Homo sapiens defensin, beta 123 (DEFB123), mRNA. 44 defense response to bacterium extracellular region kidney(1)|lung(2) 3 Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGAGTCTATGTTTACTGCATA 0.433000 50 30 0 0 0.008361 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520670 33520670 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:33520670G>A uc002hjd.2 - 0 743 c.657C>T c.(655-657)ctC>ctT p.L219L NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 219 integral to membrane CCACTGTTGGGAGGCAGGGGG 0.627000 50 44 0 0 0.011902 0 0 FBXW7 55294 broad.mit.edu 37 4 153251903 153251903 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:153251903C>T uc003ims.3 - 6 1265 c.1103G>A c.(1102-1104)gGa>gAa p.G368E FBXW7_uc011cii.2_Missense_Mutation_p.G368E|FBXW7_uc003imt.3_Missense_Mutation_p.G368E|FBXW7_uc011cih.2_Missense_Mutation_p.G192E|FBXW7_uc003imq.3_Missense_Mutation_p.G288E|FBXW7_uc003imr.3_Missense_Mutation_p.G250E NM_033632 NP_361014 Q969H0 FBXW7_HUMAN Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA. 368 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development SCF ubiquitin ligase complex|nucleolus|nucleoplasm protein binding p.R367*(7)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TTTGAGTTCTCCTCGCCTCCA 0.388000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 88 5 0 0 0.001168 0 0 RNF157 114804 broad.mit.edu 37 17 74151745 74151745 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:74151745G>A uc002jqz.3 - 14 1665 c.1596C>T c.(1594-1596)gtC>gtT p.V532V RNF157_uc002jra.3_Silent_p.V532V|DQ570973_uc002jrb.1_Non-coding_Transcript NM_052916 NP_443148 Q96PX1 RN157_HUMAN Homo sapiens ring finger protein 157 (RNF157), mRNA. 532 Ser-rich. zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) ACATGGAGGAGACGGTGTCAG 0.627000 21 9 0 0 0.004482 0 0 VCAN 1462 broad.mit.edu 37 5 82837907 82837907 + Missense_Mutation SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:82837907T>A uc003kii.3 + 7 9441 c.9085T>A c.(9085-9087)Tca>Aca p.S3029T VCAN_uc003kij.3_Missense_Mutation_p.S2042T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1693T NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 3029 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GATAGCAGCATCAGAACAGCA 0.458000 65 51 0 0 0.014410 0 0 TRIM2 23321 broad.mit.edu 37 4 154197099 154197100 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:154197099_154197100CC>TT uc003inh.2 + 2 355_356 c.270_271CC>TT c.(268-273)tgccgc>tgTTgc p.R91C TRIM2_uc003ing.2_Missense_Mutation_p.R64C|TRIM2_uc003ini.1_Missense_Mutation_p.R82C NM_015271 NP_056086 Q9C040 TRIM2_HUMAN Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA. 64 cytoplasm zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) GCCCAGTGTGCCGCCAGACCTC 0.569000 33 29 0 0 0.004672 0 0 ZNF679 168417 broad.mit.edu 37 7 63726696 63726696 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:63726696A>G uc003tsx.3 + 4 954 c.685A>G c.(685-687)Aaa>Gaa p.K229E NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN Homo sapiens zinc finger protein 679 (ZNF679), mRNA. 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 AACCCTTTCTAAACATAAAAG 0.398000 12 7 0 0 0.001984 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445668 29445668 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:29445668C>T uc003aeg.3 + 7 1499 c.1499C>T c.(1498-1500)cCt>cTt p.P500L ZNRF3_uc021wnq.1_Missense_Mutation_p.P400L NM_001206998 NP_001193927 Q9ULT6 ZNRF3_HUMAN Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA. 500 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CGTGCCTTTCCTCCGAGCGGC 0.687000 15 13 0 0 0.002450 0 0 RNF157 114804 broad.mit.edu 37 17 74236267 74236267 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:74236267A>C uc002jqz.3 - 0 124 c.55T>G c.(55-57)Tct>Gct p.S19A RNF157_uc002jra.3_Missense_Mutation_p.S19A NM_052916 NP_443148 Q96PX1 RN157_HUMAN Homo sapiens ring finger protein 157 (RNF157), mRNA. 19 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) ACGGAATTAGACGGGATGTCC 0.776000 15 4 0 0 0.009096 0 0 PRDM9 56979 broad.mit.edu 37 5 23522840 23522840 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:23522840C>T uc003jgo.3 + 7 910 c.728C>T c.(727-729)cCc>cTc p.P243L NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 243 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CTCAGTCTGCCCCCAGGGCTG 0.572000 HNSCC(3;0.000094) 24 12 0 0 0.001855 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649459 75649459 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:75649459C>T uc004ecm.2 + 0 1414 c.1136C>T c.(1135-1137)tCc>tTc p.S379F NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA. 379 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane p.S379S(1) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 TCGGACACCTCCGTGCCGCCC 0.682000 2 11 0 0 0.008291 0 0 OR13C9 286362 broad.mit.edu 37 9 107380359 107380360 + Missense_Mutation DNP CA AT AT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:107380359_107380360CA>AT uc011lvr.2 - 0 126_127 c.126_127TG>AT c.(124-129)aatggt>aaATgt p.42_43NG>KC NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA. 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 ATGAGAGTACCATTCCCCAGAA 0.441000 52 24 0 0 0.004672 0 0 SENP7 57337 broad.mit.edu 37 3 101058952 101058952 + Missense_Mutation SNP C G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:101058952C>G uc003dut.3 - 15 2455 c.2344G>C c.(2344-2346)Gat>Cat p.D782H SENP7_uc003duu.3_Missense_Mutation_p.D717H|SENP7_uc003duv.3_Missense_Mutation_p.D749H|SENP7_uc003duw.3_Missense_Mutation_p.D716H|SENP7_uc003dux.3_Missense_Mutation_p.D618H NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA. 782 Protease. proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGGTAAAAATCAATGATTACA 0.299000 12 8 0 0 0.006214 0 0 TCERG1L 256536 broad.mit.edu 37 10 132944875 132944875 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:132944875C>T uc001lkp.3 - 6 1169 c.1083G>A c.(1081-1083)acG>acA p.T361T TCERG1L_uc009yax.1_Non-coding_Transcript NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA. 361 WW 2. cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) ACAGGTGCATCGTTGGGTTGA 0.542000 25 14 0 0 0.004007 0 0 LIPH 200879 broad.mit.edu 37 3 185234907 185234907 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:185234907A>T uc003fpm.3 - 6 1040 c.930T>A c.(928-930)gaT>gaA p.D310E LIPH_uc010hyh.3_Missense_Mutation_p.D276E NM_139248 NP_640341 Q8WWY8 LIPH_HUMAN Homo sapiens lipase, member H (LIPH), mRNA. 310 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TCATTGGAGGATCTTTCCCCC 0.383000 264 167 0 0 0.014410 0 0 EPG5 57724 broad.mit.edu 37 18 43435546 43435546 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:43435546C>T uc002lbm.3 - 42 7649 c.7549G>A c.(7549-7551)Gct>Act p.A2517T NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 2517 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ACCTGCTGAGCTTTGGGGGTC 0.522000 28 19 0 0 0.012319 0 0 TP53BP2 7159 broad.mit.edu 37 1 223984229 223984229 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:223984229G>A uc001hod.3 - 13 2436 c.1625C>T c.(1624-1626)tCc>tTc p.S542F TP53BP2_uc010pvb.2_Missense_Mutation_p.S671F|TP53BP2_uc010puz.2_5'UTR|TP53BP2_uc010pva.2_Missense_Mutation_p.S310F NM_005426 NP_005417 Q13625 ASPP2_HUMAN Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA. 665 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CTGGCTATTGGAATAAATGTT 0.453000 66 148 0 0 0.014410 0 0 FOXO1 2308 broad.mit.edu 37 13 41134157 41134158 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:41134157_41134158CC>TT uc001uxl.4 - 1 1855_1856 c.1470_1471GG>AA c.(1468-1473)cgggtt>cgAAtt p.V491I FOXO1_uc010acc.1_Missense_Mutation_p.V306I NM_002015 NP_002006 Q12778 FOXO1_HUMAN Homo sapiens forkhead box O1 (FOXO1), mRNA. 491 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TGGCCCAGAACCCGGCTGTTGG 0.530000 27 15 0 0 0.004672 0 0 CIITA 4261 broad.mit.edu 37 16 10995954 10995954 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:10995954A>C uc002daj.4 + 6 677 c.544A>C c.(544-546)Acc>Ccc p.T182P CIITA_uc002dai.4_Missense_Mutation_p.T181P|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.T181P|CIITA_uc002dah.2_Intron|CIITA_uc010bup.1_Missense_Mutation_p.T181P NM_000246 NP_000237 P33076 C2TA_HUMAN Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA. 181 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CGACTGCTCCACCCTGCCCTG 0.617000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 76 10 0 0 0.005443 0 0 DROSHA 29102 broad.mit.edu 37 5 31410872 31410872 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:31410872G>A uc003jhg.2 - 29 4007 c.3648C>T c.(3646-3648)acC>acT p.T1216T DROSHA_uc003jhh.2_Silent_p.T1179T|DROSHA_uc003jhi.2_Silent_p.T1179T NM_013235 NP_037367 Q9NRR4 RNC_HUMAN Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA. 1216 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2. RNA processing|gene silencing by RNA|ribosome biogenesis nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 GGTCCGCCAAGGTCTTGGTGC 0.507000 73 49 0 0 0.014410 0 0 IL17F 112744 broad.mit.edu 37 6 52101880 52101880 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:52101880T>C uc003pam.1 - 2 412 c.341A>G c.(340-342)gAa>gGa p.E114G IL17F_uc003pal.1_Missense_Mutation_p.E60G NM_052872 NP_443104 Q96PD4 IL17F_HUMAN Homo sapiens interleukin 17F (IL17F), mRNA. 114 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) GGAGATGTCTTCCTTTCCTTG 0.552000 42 20 0 0 0.008871 0 0 CPA4 51200 broad.mit.edu 37 7 129945666 129945666 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:129945666G>A uc003vpr.3 + 5 544 c.497G>A c.(496-498)gGg>gAg p.G166E CPA4_uc011kpd.2_Missense_Mutation_p.G133E|CPA4_uc011kpe.2_Missense_Mutation_p.G62E NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA. 166 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) TTCAGCACTGGGAAAGGCGTG 0.562000 24 25 0 0 0.004656 0 0 DCLK2 166614 broad.mit.edu 37 4 151153563 151153563 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:151153563G>A uc003ilo.4 + 9 2179 c.1425G>A c.(1423-1425)gaG>gaA p.E475E DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Silent_p.E458E|DCLK2_uc003iln.4_Silent_p.E457E NM_001040261 NP_001035351 Q8N568 DCLK2_HUMAN Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA. 458 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TGGTCGAGGAGATGGAAACAG 0.428000 116 92 0 0 0.014410 0 0 L2HGDH 79944 broad.mit.edu 37 14 50732175 50732175 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:50732175G>A uc001wxu.3 - 8 1176 c.1097C>T c.(1096-1098)tCc>tTc p.S366F L2HGDH_uc010tqn.2_Missense_Mutation_p.S366F|L2HGDH_uc010tqo.1_Missense_Mutation_p.S366F NM_024884 NP_079160 Q9H9P8 L2HDH_HUMAN Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA. 366 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) AACTCCATAGGAAAAATTCTG 0.308000 16 13 0 0 0.002450 0 0 SKOR1 390598 broad.mit.edu 37 15 68119370 68119370 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:68119370G>A uc002aqy.1 + 2 1072 c.1072G>A c.(1072-1074)Gcc>Acc p.A358T NM_001031807 NP_001026977 P84550 SKOR1_HUMAN Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA. 402 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus SMAD binding|nucleotide binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 CTTCCCTACGGCCTTCGGCCT 0.667000 27 29 0 0 0.012213 0 0 SIN3B 23309 broad.mit.edu 37 19 16974604 16974604 + Silent SNP C T T rs140663662 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:16974604C>T uc002ney.2 + 10 1499 c.1476C>T c.(1474-1476)ttC>ttT p.F492F SIN3B_uc002nez.2_Silent_p.F460F|SIN3B_uc010xpi.1_Silent_p.F50F NM_015260 NP_056075 O75182 SIN3B_HUMAN Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA. 492 Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 ACGAGCGCTTCGAGGTGTGTG 0.617000 28 13 0 0 0.013537 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141301106 141301106 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:141301106G>A uc003yvh.2 - 11 2149 c.2134C>T c.(2134-2136)Cga>Tga p.R712* TRAPPC9_uc003yvj.2_Nonsense_Mutation_p.R614*|TRAPPC9_uc010mel.1_Nonsense_Mutation_p.R35*|TRAPPC9_uc003yvi.1_Nonsense_Mutation_p.R605* NM_031466 NP_001153844 Q96Q05 TPPC9_HUMAN Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA. 614 cell differentiation Golgi apparatus|endoplasmic reticulum breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TTTTCAACTCGAAGTTCAAAC 0.373000 32 21 0 0 0.010504 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155920179 155920179 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:155920179G>A uc001fmu.2 - 24 3185 c.2930C>T c.(2929-2931)cCc>cTc p.P977L ARHGEF2_uc001fmq.2_Missense_Mutation_p.P171L|ARHGEF2_uc001fmr.2_Missense_Mutation_p.P905L|ARHGEF2_uc001fms.2_Missense_Mutation_p.P932L|ARHGEF2_uc001fmt.2_Missense_Mutation_p.P933L NM_004723 NP_004714 Q92974 ARHG2_HUMAN Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA. 933 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CCGCTCTTCGGGGCTCCCCAG 0.627000 91 26 0 0 0.005443 0 0 TUBB6 84617 broad.mit.edu 37 18 12325866 12325866 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:12325866G>A uc002kqw.3 + 3 1113 c.1078G>A c.(1078-1080)Ggc>Agc p.G360S TUBB6_uc002kqv.3_Missense_Mutation_p.G288S|TUBB6_uc002kqy.3_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA. 360 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) CCCGCCCCGCGGCCTGAAGAT 0.607000 112 74 0 0 0.014410 0 0 FAM179A 165186 broad.mit.edu 37 2 29222116 29222116 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:29222116G>A uc010ezl.3 + 3 560 c.209G>A c.(208-210)gGa>gAa p.G70E FAM179A_uc010ymm.2_Missense_Mutation_p.G70E NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 70 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CGTGGACTCGGACAGCTGGGT 0.627000 19 11 0 0 0.001855 0 0 ANKRD40 91369 broad.mit.edu 37 17 48778020 48778020 + Missense_Mutation SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:48778020T>A uc002iso.3 - 1 447 c.192A>T c.(190-192)ttA>ttT p.L64F NM_052855 NP_443087 Q6AI12 ANR40_HUMAN Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA. 64 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) CTCCTGATTTTAACAGGTAAG 0.398000 49 50 0 0 0.014410 0 0 DHX34 9704 broad.mit.edu 37 19 47856689 47856689 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:47856689C>T uc010xyn.2 + 1 751 c.402C>T c.(400-402)cgC>cgT p.R134R DHX34_uc010elc.1_Silent_p.R134R NM_014681 NP_055496 Q14147 DHX34_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA. 134 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CTGAGTTCCGCCGAGCCCTGT 0.647000 38 34 0 0 0.003271 0 0 SPOCD1 90853 broad.mit.edu 37 1 32279891 32279891 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:32279891C>T uc001bts.1 - 1 1102 c.1044G>A c.(1042-1044)cgG>cgA p.R348R SPOCD1_uc001btu.3_Silent_p.R348R|SPOCD1_uc001btv.3_Intron NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 348 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CGCTGCCAGTCCGCACGACAC 0.642000 9 11 0 0 0.013537 0 0 ALK 238 broad.mit.edu 37 2 29451801 29451801 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:29451801C>T uc002rmy.3 - 15 3716 c.2764G>A c.(2764-2766)Gga>Aga p.G922R NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 922 Gly-rich. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCACCCCCTCCGAAACCCCCT 0.587000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 20 12 0 0 0.013537 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051340 38051340 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:38051340C>T uc003gtb.3 + 10 2089 c.1731C>T c.(1729-1731)ctC>ctT p.L577L TBC1D1_uc011byd.2_Silent_p.L577L|TBC1D1_uc010ifd.3_Silent_p.L324L|TBC1D1_uc011byf.1_Silent_p.L448L NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 577 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 AGAGTCATCTCCCAGAAGAGC 0.592000 41 35 0 0 0.003271 0 0 PTRH2 51651 broad.mit.edu 37 17 57775240 57775240 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:57775240G>A uc002ixt.3 - 1 225 c.100C>T c.(100-102)Cga>Tga p.R34* PTRH2_uc002ixs.3_Non-coding_Transcript NM_016077 NP_057161 Q9Y3E5 PTH2_HUMAN Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), nuclear gene encoding mitochondrial protein, mRNA. 34 apoptosis|translation mitochondrion aminoacyl-tRNA hydrolase activity large_intestine(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) AAGCATACTCGAAGGCTCCAG 0.512000 37 14 0 0 0.003163 0 0 MACC1 346389 broad.mit.edu 37 7 20193832 20193832 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:20193832C>T uc003sus.4 - 5 2639 c.2330G>A c.(2329-2331)gGa>gAa p.G777E MACC1_uc010kug.3_Missense_Mutation_p.G777E NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA. 777 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 AGCAACATCTCCAGTGTTTCC 0.408000 42 31 0 0 0.013726 0 0 MAP6 4135 broad.mit.edu 37 11 75299100 75299100 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:75299100C>T uc001owu.3 - 3 1511 c.1446G>A c.(1444-1446)ctG>ctA p.L482L NM_033063 NP_149052 Q96JE9 MAP6_HUMAN Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA. 482 Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) CTTGCTTCTTCAGAGGCTCTT 0.522000 24 58 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179407083 179407083 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179407083C>T uc021vsy.1 - 297 89921 c.89696G>A c.(89695-89697)gGa>gAa p.G29899E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G23594E|TTN_uc021vta.1_Missense_Mutation_p.G23527E|TTN_uc021vtb.1_Missense_Mutation_p.G23402E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 30826 Fibronectin type-III 118. 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) ATACTCATTTCCTTCGGTGAG 0.507000 18 13 0 0 0.001855 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323695 79323695 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:79323695G>A uc010mpk.3 - 7 3619 c.3495C>T c.(3493-3495)acC>acT p.T1165T PRUNE2_uc022bih.1_Silent_p.T987T NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 1165 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTGTAAATCGGGTTTCCGGCT 0.532000 66 45 0 0 0.014410 0 0 IL18R1 8809 broad.mit.edu 37 2 103011085 103011085 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:103011085G>A uc002tbw.4 + 9 1418 c.1268G>A c.(1267-1269)gGa>gAa p.G423E IL18R1_uc010ywd.2_Missense_Mutation_p.G267E|IL18R1_uc010fiy.3_Missense_Mutation_p.G423E|IL18R1_uc010ywc.2_Missense_Mutation_p.G422E NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 423 TIR. G -> R (in dbSNP:rs12619169). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GTGCCTGGAGGAGGTAAGAGG 0.408000 17 14 0 0 0.006122 0 0 FERMT1 55612 broad.mit.edu 37 20 6088183 6088183 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:6088183G>A uc002wmr.3 - 5 1634 c.845C>T c.(844-846)cCt>cTt p.P282L FERMT1_uc010gbt.3_Missense_Mutation_p.P25L|FERMT1_uc002wms.3_Missense_Mutation_p.P282L|FERMT1_uc002wmt.3_Missense_Mutation_p.P25L NM_017671 NP_060141 Q9BQL6 FERM1_HUMAN Homo sapiens fermitin family member 1 (FERMT1), mRNA. 282 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 GCTTACTTTAGGATTCAAGTC 0.353000 22 8 0 0 0.003080 0 0 TMEM26 219623 broad.mit.edu 37 10 63195962 63195962 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:63195962G>A uc001jlo.2 - 1 605 c.236C>T c.(235-237)tCa>tTa p.S79L TMEM26_uc001jlq.3_Non-coding_Transcript NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN Homo sapiens transmembrane protein 26 (TMEM26), mRNA. 79 integral to membrane p.P78L(1) kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) AAGCCATAATGATGGAACGAT 0.343000 26 10 0 0 0.008291 0 0 TEX15 56154 broad.mit.edu 37 8 30704454 30704454 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:30704454C>T uc003xil.3 - 0 2080 c.2080G>A c.(2080-2082)Gat>Aat p.D694N NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 694 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTATGTGTATCTTGTTGAAAT 0.333000 35 16 0 0 0.006122 0 0 ZNF488 118738 broad.mit.edu 37 10 48371348 48371348 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:48371348C>T uc001jex.3 + 1 978 c.816C>T c.(814-816)tcC>tcT p.S272S ZNF488_uc021ppx.1_Silent_p.S272S NM_153034 NP_694579 Q96MN9 ZN488_HUMAN Homo sapiens zinc finger protein 488 (ZNF488), mRNA. 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 TGGGCTTGTCCACCCAGAACT 0.617000 39 21 0 0 0.012319 0 0 CLVS2 134829 broad.mit.edu 37 6 123318986 123318986 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:123318986G>A uc003pzi.1 + 1 933 c.64G>A c.(64-66)Gaa>Aaa p.E22K NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN Homo sapiens clavesin 2 (CLVS2), mRNA. 22 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 GGAGCTCAATGAAAACCCAGA 0.542000 7 21 0 0 0.010504 0 0 PKD1L1 168507 broad.mit.edu 37 7 47917094 47917094 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:47917094C>T uc003tny.2 - 21 3690 c.3656G>A c.(3655-3657)gGa>gAa p.G1219E NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1219 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TACCGGTTTTCCAGACATGCA 0.577000 50 31 0 0 0.003755 0 0 MST1P2 11209 broad.mit.edu 37 1 16974549 16974549 + RNA SNP C G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:16974549C>G uc009vow.2 + 4 c.1359C>G MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GGGCTGAGTGCAGCGCCTGCT 0.692000 37 4 0 0 0.001984 0 0 HDAC9 9734 broad.mit.edu 37 7 18975549 18975549 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:18975549C>T uc003sui.3 + 21 2962 c.2921C>T c.(2920-2922)gCc>gTc p.A974V HDAC9_uc003sue.3_Missense_Mutation_p.A971V|HDAC9_uc003suh.3_Missense_Mutation_p.A971V|HDAC9_uc003suj.3_Missense_Mutation_p.A930V|HDAC9_uc003suk.3_Missense_Mutation_p.A219V NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 971 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.A974V(3) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TGTGTAAATGCCCTTCTAGGA 0.408000 60 49 0 0 0.014410 0 0 TMEM48 55706 broad.mit.edu 37 1 54258908 54258908 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:54258908G>A uc001cvs.3 - 13 1920 c.1629C>T c.(1627-1629)ttC>ttT p.F543F TMEM48_uc010onu.2_Silent_p.F503F|TMEM48_uc001cvt.3_Silent_p.F420F|TMEM48_uc009vzk.3_Intron|TMEM48_uc010onv.2_Silent_p.F208F NM_018087 NP_060557 Q9BTX1 NDC1_HUMAN Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA. 543 mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 TTACCTTACTGAAAAAATACA 0.303000 53 45 0 0 0.014410 0 0 RAB5C 5878 broad.mit.edu 37 17 40280339 40280339 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:40280339G>A uc010cxx.3 - 4 837 c.480C>T c.(478-480)atC>atT p.I160I RAB5C_uc002hyz.3_Silent_p.I127I|RAB5C_uc002hza.3_Silent_p.I127I NM_001252039 NP_001238968 P51148 RAB5C_HUMAN Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA. 127 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) GTGCAATGACGATGTTGGGGC 0.567000 69 51 0 0 0.014410 0 0 C14orf80 283643 broad.mit.edu 37 14 105960205 105960205 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:105960205C>T uc001yrm.3 + 4 746 c.619C>T c.(619-621)Cag>Tag p.Q207* C14orf80_uc001yrj.3_Intron|C14orf80_uc001yrk.3_Intron|C14orf80_uc001yrn.3_Nonsense_Mutation_p.Q207*|C14orf80_uc001yro.3_Intron|C14orf80_uc010tys.2_Nonsense_Mutation_p.Q29* NM_001134875 NP_001128347 Q86SX3 CN080_HUMAN Homo sapiens chromosome 14 open reading frame 80 (C14orf80), transcript variant 1, mRNA. 207 central_nervous_system(1) 1 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.239) CCACAGCGACCAGAGCCTTAG 0.632000 11 7 0 0 0.010729 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35512717 35512718 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:35512717_35512718CC>TT uc010xsf.1 + 14 1717_1718 c.1717_1718CC>TT c.(1717-1719)ccc>TTc p.P573F GRAMD1A_uc010xse.1_Missense_Mutation_p.P568F|GRAMD1A_uc002nxk.2_Missense_Mutation_p.P561F|GRAMD1A_uc002nxl.2_Missense_Mutation_p.P334F|GRAMD1A_uc002nxn.1_Missense_Mutation_p.P183F NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA. 568 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CGGGGACGGGCCCCAGCACCCA 0.718000 22 10 0 0 0.004672 0 0 SBK1 388228 broad.mit.edu 37 16 28328872 28328872 + Missense_Mutation SNP G A A rs140773263 by1000genomes TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:28328872G>A uc002dpd.3 + 1 949 c.160G>A c.(160-162)Gaa>Aaa p.E54K NM_001024401 NP_001019572 Q52WX2 SBK1_HUMAN Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA. 54 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 CAAGCACTACGAACTAGTCCG 0.622000 OREG0023701 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 18 0 0 0.007413 0 0 MYD88 4615 broad.mit.edu 37 3 38181467 38181467 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:38181467C>T uc003chx.3 + 1 664 c.480C>T c.(478-480)atC>atT p.I160I ACAA1_uc003cht.3_5'Flank|ACAA1_uc003chu.3_5'Flank|MYD88_uc011ayh.2_Silent_p.I160I|MYD88_uc011ayi.2_Silent_p.I160I|MYD88_uc011ayj.2_Silent_p.I160I|MYD88_uc011ayk.2_Intron|MYD88_uc011ayl.2_Intron NM_001172567 NP_001166038 Q99836 MYD88_HUMAN Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA. 147 TIR. 3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane TIR domain binding|death receptor binding|transmembrane receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 237 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGGCGGGCATCACCACACTTG 0.532000 Mis ABC-DLBCL 19 15 0 0 0.003163 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576424 33576424 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:33576424A>G uc003jia.1 - 18 3870 c.3707T>C c.(3706-3708)gTt>gCt p.V1236A ADAMTS12_uc010iuq.1_Missense_Mutation_p.V1151A NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 1236 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CATCCCCTCAACTCTGGGTGT 0.577000 HNSCC(64;0.19) 54 42 0 0 0.007835 0 0 BAZ2B 29994 broad.mit.edu 37 2 160194130 160194131 + Silent DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:160194130_160194131GG>AA uc002uao.3 - 31 6012_6013 c.5607_5608CC>TT c.(5605-5610)ccccta>ccTTta p.1869_1870PL>PL BAZ2B_uc002uap.3_Silent_p.1833_1834PL>PL NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA. 1869 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GCTATATCTAGGGGGTTGTCAC 0.431000 92 68 0 0 0.004672 0 0 EPB41L1 2036 broad.mit.edu 37 20 34778562 34778562 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:34778562C>T uc002xfb.3 + 10 1314 c.1143C>T c.(1141-1143)ccC>ccT p.P381P EPB41L1_uc002xeu.3_Silent_p.P319P|EPB41L1_uc010zvo.1_Silent_p.P381P|EPB41L1_uc002xev.3_Silent_p.P381P|EPB41L1_uc002xew.3_Silent_p.P284P|EPB41L1_uc002xex.3_Silent_p.P350P|EPB41L1_uc002xey.3_Silent_p.P308P|EPB41L1_uc002xez.3_Silent_p.P319P NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA. 381 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CCCCTGAGCCCCCACCCAAGG 0.642000 30 20 0 0 0.014323 0 0 DIO1 1733 broad.mit.edu 37 1 54360021 54360021 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:54360021G>A uc021onq.1 + 0 161 c.138G>A c.(136-138)gaG>gaA p.E46E DIO1_uc021onp.1_Silent_p.E46E|DIO1_uc009vzl.3_Silent_p.E46E|DIO1_uc001cwb.3_Silent_p.E46E|DIO1_uc021onr.1_Silent_p.E46E|DIO1_uc001cwd.3_Non-coding_Transcript|DIO1_uc001cwe.3_Non-coding_Transcript|DIO1_uc001cwf.3_Non-coding_Transcript|DIO1_uc001cwg.3_Non-coding_Transcript NM_000792 NP_001034804 P49895 IOD1_HUMAN Homo sapiens deiodinase, iodothyronine, type I (DIO1), transcript variant 1, mRNA. 46 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 CCATGGGCGAGAAGACGGGTA 0.527000 71 47 0 0 0.014410 0 0 PRPF31 26121 broad.mit.edu 37 19 54634798 54634798 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:54634798T>C uc002qdh.2 + 13 1831 c.1435T>C c.(1435-1437)Tat>Cat p.Y479H PRPF31_uc010yek.1_3'UTR|PRPF31_uc021vbi.1_3'UTR NM_015629 NP_056444 Q8WWY3 PRP31_HUMAN Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA. 479 assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck RNA binding|snRNP binding breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3) 12 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CAACCAGAAGTATTTCTCCAG 0.562000 30 20 0 0 0.008871 0 0 DENND4B 9909 broad.mit.edu 37 1 153905487 153905487 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:153905487G>A uc001fdd.1 - 21 3874 c.3473C>T c.(3472-3474)tCc>tTc p.S1158F NM_014856 NP_055671 O75064 DEN4B_HUMAN Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA. 1158 Ser-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACGGCACAGGGAGCAGCTGGA 0.617000 104 35 0 0 0.007835 0 0 MYO19 80179 broad.mit.edu 37 17 34856752 34856752 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:34856752G>A uc010wcy.2 - 23 3287 c.2295C>T c.(2293-2295)gcC>gcT p.A765A MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Silent_p.A565A NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA. 765 IQ 1. mitochondrial outer membrane|myosin complex ATP binding|actin binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GGATGCAGCGGGCACACTGCT 0.672000 8 6 0 0 0.001168 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560508 44560508 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:44560508G>A uc002lcr.1 - 0 1481 c.1128C>T c.(1126-1128)ttC>ttT p.F376F KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 376 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TGGGCTGCTCGAATTCCTCAG 0.507000 49 28 0 0 0.009535 0 0 TTN 7273 broad.mit.edu 37 2 179433243 179433243 + Silent SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179433243A>T uc021vsy.1 - 274 70137 c.69912T>A c.(69910-69912)gtT>gtA p.V23304V MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V16999V|TTN_uc021vta.1_Silent_p.V16932V|TTN_uc021vtb.1_Silent_p.V16807V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24231 Fibronectin type-III 69. 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) CAACATTGGCAACTGTGATTC 0.408000 42 37 0 0 0.003271 0 0 SND1 27044 broad.mit.edu 37 7 127344916 127344916 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:127344916C>T uc003vmi.3 + 7 1090 c.864C>T c.(862-864)ctC>ctT p.L288L NM_014390 NP_055205 Q7KZF4 SND1_HUMAN Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA. 288 TNase-like 2. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|melanosome|nucleus nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 CAGAGCTCCTCCTGAAGGAAG 0.502000 20 17 0 0 0.007413 0 0 ZFP3 124961 broad.mit.edu 37 17 4995940 4995940 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:4995940C>T uc002gaq.3 + 1 1266 c.1141C>T c.(1141-1143)Ctt>Ttt p.L381F ZFP3_uc021tog.1_Missense_Mutation_p.L381F NM_153018 NP_694563 Q96NJ6 ZFP3_HUMAN Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA. 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 CTCAGAACTTCTTAGACATGA 0.438000 27 19 0 0 0.008871 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102508358 102508358 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:102508358C>T uc001yks.2 + 65 12275 c.12111C>T c.(12109-12111)ccC>ccT p.P4037P NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 4037 AAA 6 (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AGGTGAAGCCCAACACTCCTG 0.507000 21 14 0 0 0.003163 0 0 VKORC1L1 154807 broad.mit.edu 37 7 65419115 65419115 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:65419115C>T uc011kds.2 + 1 351 c.249C>T c.(247-249)gtC>gtT p.V83V VKORC1L1_uc003tul.3_Missense_Mutation_p.S120L|VKORC1L1_uc003tum.1_5'Flank Q8N0U8 VKORL_HUMAN Homo sapiens vitamin K epoxide reductase complex, subunit 1-like 1 (VKORC1L1), mRNA. 0 integral to membrane large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) TCCATCATGTCGGTCGTGGGG 0.542000 34 31 0 0 0.010818 0 0 CCDC146 57639 broad.mit.edu 37 7 76797119 76797119 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:76797119C>T uc003uga.3 + 1 261 c.134C>T c.(133-135)cCa>cTa p.P45L CCDC146_uc003ufz.1_Missense_Mutation_p.P45L NM_020879 NP_065930 Q8IYE0 CC146_HUMAN Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA. 45 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) TCTGAAACTCCAGCTTTCATT 0.343000 64 8 0 0 0.013537 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187924 37187924 + RNA SNP C G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:37187924C>G uc002hrd.1 + 0 c.1766C>G Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA. GGAGGTTGAACCTTTTCCAAC 0.483000 21 17 0 0 0.004990 0 0 EPHB2 2048 broad.mit.edu 37 1 23107967 23107967 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:23107967C>T uc009vqj.1 + 1 260 c.115C>T c.(115-117)Cct>Tct p.P39S EPHB2_uc001bge.3_Missense_Mutation_p.P39S|EPHB2_uc001bgf.3_Missense_Mutation_p.P39S|EPHB2_uc010odu.2_Missense_Mutation_p.P39S NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 39 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GATGGTGCATCCTCCATCAGG 0.607000 24 8 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179458760 179458760 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179458760A>C uc021vsy.1 - 245 50881 c.50656T>G c.(50656-50658)Tcc>Gcc p.S16886A MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S10581A|TTN_uc021vta.1_Missense_Mutation_p.S10514A|TTN_uc021vtb.1_Missense_Mutation_p.S10389A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 17813 Fibronectin type-III 22. 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) TATTTGCCGGAATCTGAACGT 0.408000 94 44 0 0 0.009718 0 0 RNF139 11236 broad.mit.edu 37 8 125499402 125499402 + Silent SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:125499402A>G uc003yrc.3 + 1 1855 c.1512A>G c.(1510-1512)gcA>gcG p.A504A NM_007218 NP_009149 Q8WU17 RN139_HUMAN Homo sapiens ring finger protein 139 (RNF139), mRNA. 504 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GCCTACATGCATATTTTAACA 0.348000 51 25 0 0 0.005443 0 0 KCNIP4 80333 broad.mit.edu 37 4 20852170 20852170 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:20852170T>C uc021xmt.1 - 2 404 c.284A>G c.(283-285)aAg>aGg p.K95R KCNIP4_uc003gqe.2_Missense_Mutation_p.K78R|KCNIP4_uc003gqf.1_Missense_Mutation_p.K74R|KCNIP4_uc003gqg.1_Missense_Mutation_p.K33R|KCNIP4_uc003gqh.1_Missense_Mutation_p.K70R|KCNIP4_uc003gqi.1_Missense_Mutation_p.K33R|KCNIP4_uc021xmu.1_Missense_Mutation_p.K61R|KCNIP4_uc021xms.1_Missense_Mutation_p.K58R NM_025221 NP_671711 Q6PIL6 KCIP4_HUMAN Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA. 95 EF-hand 1; degenerate. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) TCTTACATTCTTAAATCCTCT 0.443000 69 45 0 0 0.014410 0 0 PCDH15 65217 broad.mit.edu 37 10 55569295 55569295 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:55569295C>T uc021pqv.1 - 34 4593 c.4565G>A c.(4564-4566)aGa>aAa p.R1522K PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqw.1_Silent_p.K1508K|PCDH15_uc010qht.2_Silent_p.K1503K|PCDH15_uc021pqx.1_Missense_Mutation_p.R1520K NM_001142770 NP_001136242 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant J, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTTTAATTTTCTTTGGCTCTT 0.403000 HNSCC(58;0.16) 133 75 0 0 0.014410 0 0 KIT 3815 broad.mit.edu 37 4 55595626 55595626 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:55595626C>T uc010igr.3 + 13 2203 c.2116C>T c.(2116-2118)Ctt>Ttt p.L706F KIT_uc010igs.3_Missense_Mutation_p.L702F|KIT_uc010igt.2_Missense_Mutation_p.L155F NM_000222 NP_000213 P10721 KIT_HUMAN Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA. 706 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.K704_N705del(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TTATAAGAATCTTCTGCATTC 0.373000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 50 38 0 0 0.004289 0 0 PITPNM1 9600 broad.mit.edu 37 11 67261749 67261749 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:67261749C>T uc001olx.3 - 17 3014 c.2825G>A c.(2824-2826)gGg>gAg p.G942E PITPNM1_uc001olw.3_Missense_Mutation_p.G224E|PITPNM1_uc001oly.3_Missense_Mutation_p.G942E|PITPNM1_uc001olz.3_Missense_Mutation_p.G941E NM_004910 NP_004901 O00562 PITM1_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA. 942 brain development|lipid metabolic process|phototransduction|protein transport Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GTCCAGGGGCCCGTACATGAA 0.667000 26 15 0 0 0.003163 0 0 GNA15 2769 broad.mit.edu 37 19 3150255 3150255 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:3150255G>A uc002lxf.2 + 2 715 c.457G>A c.(457-459)Gaa>Aaa p.E153K GNA15_uc010xhf.1_Missense_Mutation_p.E153K NM_002068 NP_002059 P30679 GNA15_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA. 153 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) GCGTCGGCGGGAATTCCACCT 0.657000 60 45 0 0 0.014410 0 0 CYP4F8 11283 broad.mit.edu 37 19 15730326 15730326 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:15730326C>T uc002nbi.3 + 3 433 c.369C>T c.(367-369)gtC>gtT p.V123V CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron NM_007253 NP_009184 P98187 CP4F8_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA. 123 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 AGGACATAGTCTTCTACAAGA 0.542000 14 26 0 0 0.003271 0 0 TKTL2 84076 broad.mit.edu 37 4 164393635 164393635 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:164393635C>T uc003iqp.4 - 0 1413 c.1252G>A c.(1252-1254)Ggt>Agt p.G418S NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 418 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAGTGGGAACCAATAAGGTTG 0.473000 25 7 0 0 0.001984 0 0 RAB22A 57403 broad.mit.edu 37 20 56934664 56934664 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:56934664C>T uc002xyz.3 + 6 752 c.490C>T c.(490-492)Cga>Tga p.R164* NM_020673 NP_065724 Q9UL26 RB22A_HUMAN Homo sapiens RAB22A, member RAS oncogene family (RAB22A), mRNA. 164 endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction early endosome|endosome membrane|plasma membrane GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1) 6 all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07) TGGTTTAGGTCGAAGAATTCC 0.468000 21 28 0 0 0.008361 0 0 PCDH15 65217 broad.mit.edu 37 10 55587225 55587225 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:55587225A>G uc010qhy.1 - 32 4705 c.4310T>C c.(4309-4311)gTg>gCg p.V1437A PCDH15_uc010qhq.2_Missense_Mutation_p.V1437A|PCDH15_uc010qhr.2_Missense_Mutation_p.V1432A|PCDH15_uc021pqv.1_Missense_Mutation_p.V1432A|PCDH15_uc021pqw.1_Missense_Mutation_p.V1444A|PCDH15_uc010qht.2_Missense_Mutation_p.V1439A|PCDH15_uc021pqx.1_Missense_Mutation_p.V1432A|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.V1432A|PCDH15_uc021pqz.1_Missense_Mutation_p.V1407A|PCDH15_uc010qhv.1_Missense_Mutation_p.V1429A|PCDH15_uc010qhw.1_Missense_Mutation_p.V1392A|PCDH15_uc010qhx.1_Missense_Mutation_p.V1361A|PCDH15_uc010qhz.1_Missense_Mutation_p.V1432A|PCDH15_uc010qia.1_Missense_Mutation_p.V1410A|PCDH15_uc001jju.1_Missense_Mutation_p.V1432A|PCDH15_uc010qib.1_Missense_Mutation_p.V1407A NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1432 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.P1436S(2) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) gggcgCTGCCACTGGTGCAGG 0.577000 HNSCC(58;0.16) 26 25 0 0 0.005443 0 0 OR56A5 390084 broad.mit.edu 37 11 5988900 5988900 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:5988900G>A uc010qzu.2 - 0 825 c.825C>T c.(823-825)gtC>gtT p.V275V NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA. 275 integral to membrane|plasma membrane olfactory receptor activity GCAGGATGGGGACATCCGGAG 0.517000 17 10 0 0 0.008291 0 0 SCN8A 6334 broad.mit.edu 37 12 52200631 52200631 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:52200631C>T uc001ryw.3 + 26 5539 c.5361C>T c.(5359-5361)acC>acT p.T1787T SCN8A_uc010snl.2_Silent_p.T1746T NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 1787 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ACTTTGAGACCTTCTATGAGA 0.498000 69 50 0 0 0.014410 0 0 LTBP1 4052 broad.mit.edu 37 2 33335741 33335741 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:33335741G>A uc021vft.1 + 3 979 c.956G>A c.(955-957)gGg>gAg p.G319E NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 319 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GCCCAGAAGGGGATTTCAGGA 0.493000 51 61 0 0 0.014410 0 0 SERPINE3 647174 broad.mit.edu 37 13 51918420 51918420 + Missense_Mutation SNP T G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:51918420T>G uc001vfh.2 + 1 349 c.289T>G c.(289-291)Tat>Gat p.Y97D SERPINE3_uc010tgp.2_Missense_Mutation_p.Y97D NM_001101320 NP_001094790 A8MV23 SERP3_HUMAN Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA. 97 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 GCATGCTGTTTATGCCACACT 0.507000 29 13 0 0 0.003163 0 0 ACTN1 87 broad.mit.edu 37 14 69371391 69371391 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:69371391G>A uc001xkl.3 - 6 967 c.657C>T c.(655-657)ccC>ccT p.P219P ACTN1_uc010ttb.2_Silent_p.P154P|ACTN1_uc001xkm.3_Silent_p.P219P|ACTN1_uc001xkn.3_Silent_p.P219P|ACTN1_uc001xko.1_Silent_p.P154P|ACTN1_uc010ttd.1_Silent_p.P198P NM_001102 NP_001093 P12814 ACTN1_HUMAN Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA. 219 Actin-binding.|CH 2. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CCAGCATCTTGGGGATGTCCA 0.532000 35 20 0 0 0.003330 0 0 GABRA4 2557 broad.mit.edu 37 4 46979578 46979578 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:46979578C>T uc003gxg.3 - 3 1326 c.343G>A c.(343-345)Gaa>Aaa p.E115K GABRA4_uc021xnz.1_Missense_Mutation_p.E96K|GABRA4_uc021xoa.1_Missense_Mutation_p.E96K NM_000809 NP_000800 P48169 GBRA4_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA. 115 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCAAAATTTCAATGGGGCCG 0.363000 38 30 0 0 0.013726 0 0 SDK1 221935 broad.mit.edu 37 7 4107559 4107559 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:4107559A>G uc003smx.3 + 19 3140 c.3001A>G c.(3001-3003)Atc>Gtc p.I1001V SDK1_uc010kso.3_Missense_Mutation_p.I277V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1001 Fibronectin type-III 4. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GAAAAATGGCATCATTACTGG 0.448000 12 4 0 0 0.000602 0 0 CDC5L 988 broad.mit.edu 37 6 44397582 44397582 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:44397582C>T uc003oxl.3 + 13 2336 c.2026C>T c.(2026-2028)Cgc>Tgc p.R676C NM_001253 NP_001244 Q99459 CDC5L_HUMAN Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA. 676 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGGGCAGAGCCGCTACACACG 0.408000 71 31 0 0 0.010818 0 0 MTUS1 57509 broad.mit.edu 37 8 17513392 17513392 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:17513392T>C uc003wxv.3 - 8 3562 c.3088A>G c.(3088-3090)Aaa>Gaa p.K1030E MTUS1_uc003wxt.3_Missense_Mutation_p.K277E|MTUS1_uc011kyg.2_Missense_Mutation_p.K175E|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.K976E|MTUS1_uc003wxs.3_Missense_Mutation_p.K196E NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA. 1030 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) AATTGCATTTTGTACTTCTCT 0.453000 45 34 0 0 0.005524 0 0 ITGA11 22801 broad.mit.edu 37 15 68649613 68649613 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:68649613C>T uc010bib.3 - 6 712 c.625G>A c.(625-627)Gat>Aat p.D209N ITGA11_uc002ari.3_Missense_Mutation_p.D209N NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN Homo sapiens integrin, alpha 11 (ITGA11), mRNA. 209 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) TGCACCACATCTTCGCCATAC 0.502000 40 33 0 0 0.004878 0 0 NBAS 51594 broad.mit.edu 37 2 15432747 15432747 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:15432747G>A uc002rcc.1 - 40 4967 c.4941C>T c.(4939-4941)atC>atT p.I1647I NBAS_uc010exl.1_Silent_p.I719I|NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 1647 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GGCCCTGAAGGATCTGCGCCT 0.507000 32 25 0 0 0.003330 0 0 PLCB1 23236 broad.mit.edu 37 20 8722119 8722119 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:8722119G>A uc002wnb.3 + 22 2425 c.2422G>A c.(2422-2424)Gaa>Aaa p.E808K PLCB1_uc010zrb.1_Missense_Mutation_p.E707K|PLCB1_uc002wna.3_Missense_Mutation_p.E808K|PLCB1_uc002wnc.1_Missense_Mutation_p.E707K|PLCB1_uc002wnd.1_Missense_Mutation_p.E385K NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 808 CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity p.E808K(2)|p.I807I(1) NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AGATGTCATCGAAGCTTTATC 0.383000 12 7 0 0 0.003080 0 0 MTMR11 10903 broad.mit.edu 37 1 149905831 149905831 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:149905831G>A uc001etl.4 - 7 939 c.688C>T c.(688-690)Ccc>Tcc p.P230S MTMR11_uc001etm.2_Missense_Mutation_p.P158S|MTMR11_uc010pbm.1_Missense_Mutation_p.P202S|MTMR11_uc010pbn.1_Missense_Mutation_p.P72S NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. 230 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) AAGTAACGGGGGAGGCTGTGA 0.483000 89 90 0 0 0.014410 0 0 PCK1 5105 broad.mit.edu 37 20 56136663 56136663 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:56136663C>T uc002xyn.4 + 1 359 c.196C>T c.(196-198)Ctc>Ttc p.L66F PCK1_uc010zzm.2_5'UTR NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 66 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) AGAGGGCATCCTCAGGCGGCT 0.612000 52 68 0 0 0.014410 0 0 BAZ1B 9031 broad.mit.edu 37 7 72892500 72892500 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:72892500G>A uc003tyc.3 - 6 1643 c.1291C>T c.(1291-1293)Cct>Tct p.P431S NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA. 431 Lys-rich. ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TTGGTTTTAGGAGTCTTCAGT 0.483000 45 28 0 0 0.007291 0 0 MAPK4 5596 broad.mit.edu 37 18 48190835 48190835 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:48190835C>T uc002lev.3 + 1 1507 c.507C>T c.(505-507)ttC>ttT p.F169F MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.F169F NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 169 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TTGGGGATTTCGGGTTGGCAA 0.542000 49 32 0 0 0.003271 0 0 CIT 11113 broad.mit.edu 37 12 120128034 120128035 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:120128034_120128035GG>AA uc001txj.2 - 46 6163_6164 c.6107_6108CC>TT c.(6106-6108)ccc>cTT p.P2036L CIT_uc001txh.2_Missense_Mutation_p.P1512L|CIT_uc001txi.2_Missense_Mutation_p.P1994L NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 1994 intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ACAGCCTCCCGGGGGACCGCTC 0.703000 14 12 0 0 0.004672 0 0 SPTBN1 6711 broad.mit.edu 37 2 54858274 54858274 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:54858274C>T uc002rxu.3 + 15 3339 c.3090C>T c.(3088-3090)gcC>gcT p.A1030A SPTBN1_uc002rxx.3_Silent_p.A1017A NM_003128 NP_003119 Q01082 SPTB2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA. 1030 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) CCGACCAGGCCCAGGCCATCC 0.637000 47 26 0 0 0.007291 0 0 FOXB1 27023 broad.mit.edu 37 15 60297359 60297359 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:60297359C>T uc002agj.1 + 1 676 c.197C>T c.(196-198)tCc>tTc p.S66F FOXB1_uc010bgh.1_Intron|FOXB1_uc021sna.1_Missense_Mutation_p.S66F NM_012182 NP_036314 Q99853 FOXB1_HUMAN Homo sapiens forkhead box B1 (FOXB1), mRNA. 66 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|kidney(1)|lung(3)|ovary(1) 6 CACAACCTCTCCTTCAACGAC 0.607000 56 36 0 0 0.005524 0 0 SLC25A23 79085 broad.mit.edu 37 19 6454000 6454000 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:6454000G>A uc002mex.1 - 6 1037 c.895C>T c.(895-897)Cct>Tct p.P299S SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Missense_Mutation_p.P116S NM_024103 NP_077008 Q9BV35 SCMC3_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA. 299 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 ACCTCCATAGGGTAAATGATG 0.602000 25 10 0 0 0.013537 0 0 CCDC102B 79839 broad.mit.edu 37 18 66678186 66678186 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:66678186C>T uc002lkk.2 + 8 1502 c.1279C>T c.(1279-1281)Caa>Taa p.Q427* CCDC102B_uc002lki.2_Nonsense_Mutation_p.Q427* NM_001093729 NP_079057 Q68D86 C102B_HUMAN Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA. 427 p.L426F(1) breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) ACTGAACCTTCAACATGCCTA 0.323000 11 4 0 0 0.009096 0 0 HRNR 388697 broad.mit.edu 37 1 152195625 152195625 + Silent SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:152195625T>C uc001ezt.1 - 1 181 c.105A>G c.(103-105)gaA>gaG p.E35E NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 35 EF-hand 1.|S-100-like. keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTCCAGAAGTTCTTTCAGCT 0.428000 97 54 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179497991 179497991 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179497991G>A uc021vsy.1 - 181 35530 c.35305C>T c.(35305-35307)Cac>Tac p.H11769Y MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H5464Y|TTN_uc021vta.1_Missense_Mutation_p.H5397Y|TTN_uc021vtb.1_Missense_Mutation_p.H5272Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 12696 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTCAAAGTGGGCTGTTTCA 0.413000 50 39 0 0 0.008740 0 0 XXYLT1 152002 broad.mit.edu 37 3 194790788 194790788 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:194790788G>A uc003fum.4 - 3 946 c.838C>T c.(838-840)Ccg>Tcg p.P280S XXYLT1_uc003ful.3_Missense_Mutation_p.P77S|XXYLT1_uc003fuk.3_Missense_Mutation_p.P74S NM_152531 NP_689744 Q8NBI6 CC021_HUMAN Homo sapiens xyloside xylosyltransferase 1 (XXYLT1), mRNA. 280 integral to membrane transferase activity, transferring glycosyl groups TCGGGGGGCGGGCCCCCAACC 0.677000 41 31 0 0 0.003755 0 0 MAP3K9 4293 broad.mit.edu 37 14 71202744 71202744 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:71202744G>A uc001xmm.3 - 8 1847 c.1847C>T c.(1846-1848)tCc>tTc p.S616F MAP3K9_uc010ttk.2_Intron|MAP3K9_uc001xmk.3_Intron|MAP3K9_uc001xml.3_Missense_Mutation_p.S616F NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 616 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.G615A(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TCTCTGAGGGGATCTTCAATG 0.493000 10 10 0 0 0.008291 0 0 DMXL1 1657 broad.mit.edu 37 5 118454697 118454697 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:118454697G>A uc010jcl.1 + 7 1112 c.931G>A c.(931-933)Gaa>Aaa p.E311K DMXL1_uc003ksd.2_Missense_Mutation_p.E311K|DMXL1_uc021ycw.1_Missense_Mutation_p.E138K|DMXL1_uc003ksc.1_Missense_Mutation_p.E311K NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 311 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AAATGCTTTAGAAGTGAGTGT 0.323000 14 7 0 0 0.003080 0 0 PRIC285 85441 broad.mit.edu 37 20 62202103 62202103 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:62202103C>T uc002yfm.2 - 2 1289 c.397G>A c.(397-399)Ggg>Agg p.G133R PRIC285_uc002yfl.1_5'Flank|PRIC285_uc002yfn.2_Missense_Mutation_p.G133R NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 133 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GGCACCAGCCCGTCCTGCCAG 0.706000 8 10 0 0 0.006122 0 0 PREX2 80243 broad.mit.edu 37 8 68956771 68956771 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:68956771C>T uc003xxv.1 + 7 916 c.889C>T c.(889-891)Cgt>Tgt p.R297C PREX2_uc003xxu.1_Missense_Mutation_p.R297C|PREX2_uc011lez.1_Missense_Mutation_p.R232C NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 297 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.R297H(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GTACCTTTTTCGTGGCCGGAT 0.398000 65 37 0 0 0.006230 0 0 MYBPC3 4607 broad.mit.edu 37 11 47364160 47364160 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:47364160C>T uc021qis.1 - 16 1648 c.1593G>A c.(1591-1593)ggG>ggA p.G531G MYBPC3_uc021qir.1_Silent_p.G183G|MYBPC3_uc010rhl.2_Non-coding_Transcript NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 530 Ig-like C2-type 3. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GCGCCTGGCCCCCGCTAGTGC 0.637000 15 10 0 0 0.006214 0 0 HTRA1 5654 broad.mit.edu 37 10 124266317 124266317 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:124266317C>T uc001lgj.2 + 3 1016 c.888C>T c.(886-888)atC>atT p.I296I NM_002775 NP_002766 Q92743 HTRA1_HUMAN Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA. 296 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) CCACCGGGATCGTGAGCACCA 0.617000 46 29 0 0 0.009535 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36558091 36558091 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:36558091C>T uc001bzt.3 + 4 823 c.770C>T c.(769-771)tCg>tTg p.S257L NM_017825 NP_060295 Q9NX46 ARHL2_HUMAN Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA. 257 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) GACCAGGCATCGGTGACCAGG 0.582000 49 22 0 0 0.006320 0 0 MYOM3 127294 broad.mit.edu 37 1 24398477 24398477 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:24398477G>A uc001bin.4 - 23 3158 c.2995C>T c.(2995-2997)Cat>Tat p.H999Y MYOM3_uc001bim.4_Missense_Mutation_p.H656Y|MYOM3_uc001bio.3_Missense_Mutation_p.H999Y NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 999 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CTGATCTCATGACTCAGCTTC 0.557000 34 35 0 0 0.007835 0 0 SLC9A6 10479 broad.mit.edu 37 X 135084286 135084286 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:135084286C>T uc004ezk.3 + 5 889 c.813C>T c.(811-813)ttC>ttT p.F271F SLC9A6_uc011mvx.2_Silent_p.F219F|SLC9A6_uc004ezj.3_Silent_p.F239F NM_001042537 NP_001036002 Q92581 SL9A6_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA. 239 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TTGCTATATTCCACGAGCTTC 0.373000 12 51 0 0 0.014410 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655116 46655116 + Silent SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:46655116T>C uc003bhh.3 - 0 4104 c.4104A>G c.(4102-4104)aaA>aaG p.K1368K NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 1368 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ACATGTGGTTTTTCCGGAGAT 0.388000 45 36 0 0 0.004289 0 0 OR7G2 390882 broad.mit.edu 37 19 9213398 9213398 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:9213398G>A uc010xkk.2 - 0 585 c.585C>T c.(583-585)atC>atT p.I195I NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA. 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 AGAAGAGCGGGATTTCCAGGT 0.478000 31 27 0 0 0.006320 0 0 HMMR 3161 broad.mit.edu 37 5 162902636 162902636 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:162902636C>T uc003lzh.3 + 10 1408 c.1226C>T c.(1225-1227)tCt>tTt p.S409F HMMR_uc003lzf.3_Missense_Mutation_p.S408F|HMMR_uc003lzg.3_Missense_Mutation_p.S393F|HMMR_uc011dem.2_Missense_Mutation_p.S322F NM_001142556 NP_001136028 O75330 HMMR_HUMAN Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA. 408 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GAAGCAAAATCTAGAGCTGAA 0.353000 20 10 0 0 0.008291 0 0 TTC21A 199223 broad.mit.edu 37 3 39162558 39162558 + Missense_Mutation SNP C G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:39162558C>G uc003cjc.2 + 8 1172 c.995C>G c.(994-996)tCg>tGg p.S332W TTC21A_uc011ayx.1_Missense_Mutation_p.S283W|TTC21A_uc003cjd.2_Non-coding_Transcript NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA. 332 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GCCACCCCCTCGTATGTCCAT 0.512000 35 26 0 0 0.006320 0 0 CSTF3 1479 broad.mit.edu 37 11 33123758 33123758 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:33123758A>T uc001muh.3 - 9 957 c.791T>A c.(790-792)cTt>cAt p.L264H TCP11L1_uc001muf.1_Intron NM_001326 NP_001317 Q12996 CSTF3_HUMAN Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA. 264 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm RNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 CTCTGTACGAAGAGGGTTGCT 0.438000 38 27 0 0 0.010818 0 0 HRH1 3269 broad.mit.edu 37 3 11300881 11300882 + Missense_Mutation DNP GG AA AA rs61738990 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:11300881_11300882GG>AA uc010hdr.3 + 1 500_501 c.158_159GG>AA c.(157-159)cgg>cAA p.R53Q HRH1_uc010hds.3_Missense_Mutation_p.R53Q|HRH1_uc010hdt.3_Missense_Mutation_p.R53Q|HRH1_uc003bwb.4_Missense_Mutation_p.R53Q|HRH1_uc021wtb.1_Missense_Mutation_p.R53Q NM_001098213 NP_001091683 P35367 HRH1_HUMAN Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA. 53 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) TATGCCGTACGGAGTGAGCGGA 0.594000 29 8 0 0 0.004672 0 0 TRAT1 50852 broad.mit.edu 37 3 108568015 108568015 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:108568015C>T uc003dxi.1 + 4 361 c.217C>T c.(217-219)Cca>Tca p.P73S TRAT1_uc010hpx.1_Missense_Mutation_p.P36S NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA. 73 T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling T cell receptor complex|integral to plasma membrane phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 TTCCCAAGAACCAATGGATGA 0.328000 15 21 0 0 0.008871 0 0 RPL32P3 132241 broad.mit.edu 37 3 129116185 129116185 + RNA SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:129116185G>A uc003eme.1 - 0 c.613C>T RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron|RPL32P3_uc003emf.2_Non-coding_Transcript Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA. lung(1) 1 TGCGATCCCAGGAGGTCAAGG 0.547000 74 44 0 0 0.014410 0 0 KLHL8 57563 broad.mit.edu 37 4 88106875 88106875 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:88106875G>A uc011cdb.1 - 2 678 c.293C>T c.(292-294)tCt>tTt p.S98F KLHL8_uc003hql.1_Missense_Mutation_p.S98F|KLHL8_uc003hqm.1_Intron|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA. 98 BTB. breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) AGCCATTTCAGAAAGAAACAT 0.398000 13 5 0 0 0.001168 0 0 USP36 57602 broad.mit.edu 37 17 76823413 76823413 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:76823413G>A uc002jvz.1 - 5 928 c.603C>T c.(601-603)ttC>ttT p.F201F USP36_uc002jwa.1_Silent_p.F201F|USP36_uc002jwd.1_Silent_p.F201F NM_025090 NP_079366 Q9P275 UBP36_HUMAN Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA. 201 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TCCCAAAGCGGAAGTGTCGGG 0.572000 24 4 0 0 0.000602 0 0 ADAM10 102 broad.mit.edu 37 15 58938315 58938315 + Missense_Mutation SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:58938315T>A uc002afd.1 - 5 1118 c.674A>T c.(673-675)tAt>tTt p.Y225F ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA. 225 Peptidase M12B. Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) AGTCTGAATATAAAGCTGACA 0.348000 17 13 0 0 0.002450 0 0 TRAT1 50852 broad.mit.edu 37 3 108549601 108549601 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:108549601C>T uc003dxi.1 + 1 236 c.92C>T c.(91-93)tCc>tTc p.S31F TRAT1_uc010hpx.1_Intron NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA. 31 T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling T cell receptor complex|integral to plasma membrane phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity p.S31F(2) endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 TTCAATATTTCCCACTATGTG 0.408000 64 47 0 0 0.014410 0 0 RB1 5925 broad.mit.edu 37 13 49027168 49027168 + Nonsense_Mutation SNP C T T rs121913305 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:49027168C>T uc001vcb.3 + 17 1901 c.1735C>T c.(1735-1737)Cga>Tga p.R579* NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 579 Domain A.|Pocket; binds T and E1A. G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation PML body|Rb-E2F complex|SWI/SNF complex|chromatin DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.R579*(10)|p.?(10)|p.R579fs*29(2) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATCAAAGGACCGAGAAGGACC 0.338000 R579*(SW1783_CENTRAL_NERVOUS_SYSTEM) 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 38 19 0 0 0.006122 0 0 HIF3A 64344 broad.mit.edu 37 19 46832655 46832655 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:46832655G>A uc002peh.3 + 11 1663 c.1632G>A c.(1630-1632)ggG>ggA p.G544G HIF3A_uc002peg.4_Silent_p.G544G|HIF3A_uc021uwf.1_Silent_p.G488G|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Silent_p.G475G|HIF3A_uc002pel.3_Silent_p.G542G|HIF3A_uc010xxz.2_Silent_p.G493G NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 544 ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CCCGCTGGGGGAGTGACCCCC 0.687000 10 9 0 0 0.008291 0 0 EBF3 253738 broad.mit.edu 37 10 131671816 131671817 + Missense_Mutation DNP GG AA AA rs150383257 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:131671816_131671817GG>AA uc021qav.1 - 7 739_740 c.638_639CC>TT c.(637-639)gcc>gTT p.A213V EBF3_uc001lki.2_Missense_Mutation_p.A227V NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 227 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.A227A(2) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGTCTGACACGGCCAGCACGTG 0.525000 27 20 0 0 0.004672 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66992756 66992756 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:66992756G>A uc003xvs.1 + 4 769 c.478G>A c.(478-480)Gag>Aag p.E160K DNAJC5B_uc003xvt.1_Non-coding_Transcript NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA. 160 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) GGATCTGGAGGAGCAGATCAA 0.572000 9 5 0 0 0.000602 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37491976 37491976 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:37491976C>T uc003aqt.1 - 4 621 c.559G>A c.(559-561)Gaa>Aaa p.E187K TMPRSS6_uc003aqs.1_Missense_Mutation_p.E196K|TMPRSS6_uc003aqu.3_Missense_Mutation_p.E187K NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 196 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 GGGTCCACTTCGTACTCGGCC 0.642000 29 30 0 0 0.003271 0 0 IFT57 55081 broad.mit.edu 37 3 107885814 107885814 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:107885814G>A uc021xcc.1 - 7 1014 c.961C>T c.(961-963)Cat>Tat p.H321Y IFT57_uc003dwx.4_Missense_Mutation_p.H290Y NM_018010 NP_060480 Q9NWB7 IFT57_HUMAN Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA. 290 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) ATTTCATTATGGAGTTTGTCC 0.338000 21 12 0 0 0.002450 0 0 KCTD11 147040 broad.mit.edu 37 17 7256413 7256414 + Missense_Mutation DNP AC CT CT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:7256413_7256414AC>CT uc002gge.4 + 0 1206_1207 c.152_153AC>CT c.(151-153)tac>tCT p.Y51S TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank NM_001002914 NP_001002914 Q693B1 KCD11_HUMAN Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA. 51 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) CCCCGTGGGTACGGAGAGACAG 0.663000 12 11 0 0 0.004672 0 0 DBC1 1620 broad.mit.edu 37 9 121929509 121929509 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:121929509C>T uc004bkc.2 - 7 2595 c.2139G>A c.(2137-2139)ggG>ggA p.G713G NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 713 cell cycle arrest|cell death cytoplasm protein binding p.P712L(1)|p.P712T(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCTGGGGTTTCCCCGGGGCCA 0.552000 13 79 0 0 0.014410 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140730565 140730565 + Silent SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:140730565T>A uc003ljo.2 + 0 738 c.738T>A c.(736-738)gtT>gtA p.V246V PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.V246V NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 249 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATACAGGGTTAGCCTCCAAG 0.557000 48 37 0 0 0.005524 0 0 TPP2 7174 broad.mit.edu 37 13 103266516 103266516 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:103266516C>T uc001vpi.4 + 2 463 c.360C>T c.(358-360)ttC>ttT p.F120F NM_003291 NP_003282 P29144 TPP2_HUMAN Homo sapiens tripeptidyl peptidase II (TPP2), mRNA. 120 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTATGACTTCTATCCTAAGG 0.373000 29 22 0 0 0.006320 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558309 140558309 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:140558309G>A uc011dai.2 + 0 939 c.694G>A c.(694-696)Gaa>Aaa p.E232K PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 232 Cadherin 2. E -> G (in dbSNP:rs17096954). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCTACATTGAAGTTGTCGA 0.507000 64 55 0 0 0.014410 0 0 USP29 57663 broad.mit.edu 37 19 57640800 57640800 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:57640800G>A uc002qny.3 + 3 1113 c.757G>A c.(757-759)Ggt>Agt p.G253S USP29_uc021vci.1_Missense_Mutation_p.G253S NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 253 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGCCAAAAATGGTTTGACATC 0.473000 28 15 0 0 0.004990 0 0 CEACAM20 125931 broad.mit.edu 37 19 45026687 45026687 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:45026687C>T uc010ejn.1 - 3 743 c.727G>A c.(727-729)Ggt>Agt p.G243S CEACAM20_uc010ejo.1_Missense_Mutation_p.G243S|CEACAM20_uc010ejp.1_Missense_Mutation_p.G243S|CEACAM20_uc010ejq.1_Missense_Mutation_p.G243S NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 243 Ig-like C2-type 2. integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) TTCAGAGTACCCAGGCTGGAC 0.547000 195 109 0 0 0.014410 0 0 EDC4 23644 broad.mit.edu 37 16 67915935 67915935 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:67915935C>T uc002eur.3 + 22 3322 c.3083C>T c.(3082-3084)tCc>tTc p.S1028F EDC4_uc010cer.3_Missense_Mutation_p.S647F|EDC4_uc002eus.3_Missense_Mutation_p.S758F|EDC4_uc002eut.1_5'Flank|NRN1L_uc002euu.3_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA. 1028 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CAACAGTTGTCCCAAGCACTG 0.612000 13 9 0 0 0.006214 0 0 CDH6 1004 broad.mit.edu 37 5 31302310 31302310 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:31302310G>A uc003jhe.2 + 5 1264 c.904G>A c.(904-906)Gaa>Aaa p.E302K CDH6_uc003jhd.2_Missense_Mutation_p.E302K NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 302 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGAAAATGCTGAAATTGAGTA 0.448000 23 32 0 0 0.012213 0 0 ZNF560 147741 broad.mit.edu 37 19 9578517 9578517 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:9578517G>A uc002mlp.1 - 9 1316 c.1106C>T c.(1105-1107)aCc>aTc p.T369I ZNF560_uc010dwr.1_Missense_Mutation_p.T263I NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CCCAATGTGGGTTTGCATGTG 0.388000 54 36 0 0 0.006999 0 0 TMEM105 284186 broad.mit.edu 37 17 79288207 79288207 + Splice_Site SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:79288207C>T uc002kad.2 - 2 605 c.55_splice c.e2+1 p.G19_splice NM_178520 NP_848615 Q8N8V8 TM105_HUMAN Homo sapiens transmembrane protein 105 (TMEM105), mRNA. 19 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) GGTGCACAGACCTTGGTGTGG 0.637000 22 6 0 0 0.001984 0 0 SOSTDC1 25928 broad.mit.edu 37 7 16505263 16505263 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:16505263G>A uc003sth.3 - 2 744 c.31C>T c.(31-33)Ctt>Ttt p.L11F SOSTDC1_uc003stg.3_Missense_Mutation_p.L11F NM_015464 NP_056279 Q6X4U4 SOSD1_HUMAN Homo sapiens sclerostin domain containing 1 (SOSTDC1), mRNA. 11 FYLLPLA -> LSLIPLL (in Ref. 3; AAQ83296). Wnt receptor signaling pathway central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2) 6 Lung NSC(10;0.185) UCEC - Uterine corpus endometrioid carcinoma (126;0.177) GCAAGGGGAAGGAGATAGAAA 0.423000 24 18 0 0 0.006122 0 0 CLIP3 25999 broad.mit.edu 37 19 36517887 36517888 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:36517887_36517888GG>AA uc010eeq.2 - 2 680_681 c.366_367CC>TT c.(364-369)ctccac>ctTTac p.H123Y BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.H123Y NM_001199570 NP_001186499 Q96DZ5 CLIP3_HUMAN Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA. 123 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CACGCATAGTGGAGCAGTGTCA 0.614000 23 20 0 0 0.004672 0 0 ZNF652 22834 broad.mit.edu 37 17 47394220 47394220 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:47394220G>A uc002iov.4 - 1 1332 c.868C>T c.(868-870)Cac>Tac p.H290Y ZNF652_uc002iow.3_Missense_Mutation_p.H290Y|ZNF652_uc002iou.4_Intron NM_001145365 NP_055712 Q9Y2D9 ZN652_HUMAN Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA. 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) GTTTGCTGGTGAAGGGACAGC 0.448000 88 32 0 0 0.004878 0 0 VIL1 7429 broad.mit.edu 37 2 219297644 219297644 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:219297644C>T uc002vib.3 + 11 1492 c.1470C>T c.(1468-1470)tcC>tcT p.S490S VIL1_uc010zke.2_Silent_p.S179S|VIL1_uc002via.3_Silent_p.S490S NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 490 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATCTTATGTCCATCTTCAAGG 0.547000 26 20 0 0 0.007413 0 0 STAB2 55576 broad.mit.edu 37 12 104100699 104100699 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:104100699G>A uc001tjw.3 + 37 4312 c.4126G>A c.(4126-4128)Gag>Aag p.E1376K NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1376 Laminin EGF-like 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGAGTGTGGGGAGGGCTTCAG 0.597000 21 14 0 0 0.001855 0 0 ROBO1 6091 broad.mit.edu 37 3 79639029 79639029 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:79639029C>T uc003dqe.2 - 1 241 c.33G>A c.(31-33)atG>atA p.M11I NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA. 11 Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis cell surface|cytoplasm|integral to plasma membrane LRR domain binding|axon guidance receptor activity|identical protein binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGAGTGATATCATGACCAAAA 0.408000 65 47 0 0 0.014410 0 0 GC 2638 broad.mit.edu 37 4 72629585 72629585 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:72629585C>T uc010iif.3 - 5 694 c.599G>A c.(598-600)aGt>aAt p.S200N GC_uc003hge.3_Missense_Mutation_p.S181N|GC_uc021xpb.1_Missense_Mutation_p.S181N NM_001204307 NP_001191236 P02774 VTDB_HUMAN Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA. 181 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) AGAAAGATAACTCTTGGTGTA 0.368000 67 30 0 0 0.009535 0 0 LAMA2 3908 broad.mit.edu 37 6 129714402 129714402 + Splice_Site SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:129714402T>A uc021zfb.1 + 37 5550 c.5445_splice c.e37+2 p.E1815_splice LAMA2_uc003qbn.3_Splice_Site_p.E1815_splice|LAMA2_uc003qbo.3_Splice_Site_p.E1815_splice NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 1815 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCATTGGAGGTGAGTCTTAGG 0.428000 4 13 0 0 0.001855 0 0 DHRS3 9249 broad.mit.edu 37 1 12628405 12628405 + Silent SNP G C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:12628405G>C uc001auc.3 - 5 1340 c.873C>G c.(871-873)acC>acG p.T291T DHRS3_uc001aub.3_Silent_p.T206T NM_004753 NP_004744 O75911 DHRS3_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA. 291 retinol metabolic process|visual perception integral to membrane NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) TGCAGGTGTAGGTTCCTGAGA 0.527000 68 63 0 0 0.014410 0 0 OR9A4 130075 broad.mit.edu 37 7 141619380 141619380 + Silent SNP G A A rs143629932 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:141619380G>A uc003vwu.1 + 0 705 c.705G>A c.(703-705)agG>agA p.R235R NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R235R(2) NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CTGGCCGGAGGAAATCCTTCT 0.502000 54 40 0 0 0.014410 0 0 GRM6 2916 broad.mit.edu 37 5 178419000 178419000 + Missense_Mutation SNP C T T rs140082247 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:178419000C>T uc003mjr.3 - 1 768 c.589G>A c.(589-591)Gac>Aac p.D197N GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 197 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|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) all cancers(165;0.245) TGGTAGGAGTCGGGTGGCACC 0.622000 29 11 0 0 0.013537 0 0 ALOX15 246 broad.mit.edu 37 17 4542411 4542411 + Silent SNP C T T rs141412026 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:4542411C>T uc002fyh.3 - 2 379 c.354G>A c.(352-354)gaG>gaA p.E118E ALOX15_uc010vsd.2_Silent_p.E79E|ALOX15_uc010vse.2_Silent_p.E140E NM_001140 NP_001131 P16050 LOX15_HUMAN Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA. 118 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity p.G117C(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CCTGAGGGTCCTCGCCCACAG 0.607000 97 56 0 0 0.014410 0 0 RCAN2 10231 broad.mit.edu 37 2 174104179 174104180 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:174104179_174104180GG>AA uc002uhz.3 + 15 1514_1515 c.1314_1315GG>AA c.(1312-1317)ctggaa>ctAAaa p.E439K MLK7-AS1_uc002uib.3_Intron NM_016653 NP_057737 Q14206 RCAN2_HUMAN Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA. 0 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 TAGTGAACCTGGAACTGGTTTT 0.366000 20 12 0 0 0.004672 0 0 SPEN 23013 broad.mit.edu 37 1 16259360 16259360 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:16259360C>T uc001axk.1 + 10 6829 c.6625C>T c.(6625-6627)Caa>Taa p.Q2209* SPEN_uc010obp.1_Nonsense_Mutation_p.Q2168* NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 2209 Interaction with MSX2 (By similarity).|RID. Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GCCTGCACACCAAGCAAGTGA 0.572000 37 21 0 0 0.010504 0 0 SLC24A1 9187 broad.mit.edu 37 15 65931956 65931956 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:65931956G>A uc010ujf.2 + 3 2255 c.1968G>A c.(1966-1968)ggG>ggA p.G656G SLC24A1_uc010ujd.1_Silent_p.G638G|SLC24A1_uc010uje.1_Silent_p.G638G|SLC24A1_uc010ujg.2_Silent_p.G656G|SLC24A1_uc010ujh.2_Silent_p.G638G NM_004727 NP_004718 O60721 NCKX1_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA. 656 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TGACCCGAGGGAGCAGCTCGA 0.622000 5 4 0 0 0.009096 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432921 104432921 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:104432921C>T uc004bbp.2 - 2 2374 c.1773G>A c.(1771-1773)atG>atA p.M591I GRIN3A_uc004bbq.1_Missense_Mutation_p.M591I NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 591 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGTCAAAGTTCATGTCTTCTG 0.448000 22 21 0 0 0.008871 0 0 SYNE2 23224 broad.mit.edu 37 14 64547173 64547173 + Splice_Site SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:64547173G>A uc001xgl.3 + 56 11394 c.11164_splice c.e56-1 p.K3722_splice SYNE2_uc001xgm.3_Splice_Site_p.K3722_splice|SYNE2_uc021ruh.1_Splice_Site_p.K3755_splice|SYNE2_uc010apy.3_Splice_Site_p.K84_splice|SYNE2_uc010apx.1_Splice_Site_p.K114_splice NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 3722 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCCTTCTCCAGAAAATGTGGG 0.393000 39 34 0 0 0.006230 0 0 SSX9 280660 broad.mit.edu 37 X 48159160 48159161 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:48159160_48159161CC>TT uc022bvu.1 - 4 374_375 c.372_373GG>AA c.(370-375)aaggaa>aaAAaa p.E125K RecName: Full=Protein SSX9; breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TCTGGCACTTCCTTCGAATCAT 0.460000 31 163 0 0 0.004672 0 0 UGT2B10 7365 broad.mit.edu 37 4 69885758 69885758 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:69885758G>A uc011cao.1 - 2 336 c.210C>T c.(208-210)atC>atT p.I70I UGT2B10_uc011can.1_Silent_p.I70I P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 114 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 ATGCCCACATGATTTCTTGTT 0.284000 13 8 0 0 0.003080 0 0 PROX2 283571 broad.mit.edu 37 14 75330535 75330535 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:75330535C>T uc021rwo.1 - 0 3 c.3G>A c.(1-3)atG>atA p.M1I PROX2_uc001xqp.2_Missense_Mutation_p.M1I|PROX2_uc001xqq.2_Missense_Mutation_p.M1I NM_001080408 NP_001229936 Q3B8N5 PROX2_HUMAN Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA. 1 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) AGTTTGGATCCATCCCAGGCA 0.547000 28 32 0 0 0.006230 0 0 ZBED4 9889 broad.mit.edu 37 22 50280697 50280697 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:50280697C>T uc003bix.2 + 1 3857 c.3387C>T c.(3385-3387)gtC>gtT p.V1129V ZBED4_uc021wrx.1_Silent_p.V1129V NM_014838 NP_055653 O75132 ZBED4_HUMAN Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA. 1129 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CAAGCATCGTCCCTTCAGAAA 0.532000 32 12 0 0 0.004007 0 0 GJA1 2697 broad.mit.edu 37 6 121768817 121768817 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:121768817C>T uc003pyr.3 + 1 1074 c.824C>T c.(823-825)aCc>aTc p.T275I GJA1_uc011ebo.1_Missense_Mutation_p.T176I|GJA1_uc011ebp.1_Missense_Mutation_p.T63I|GJA1_uc021zel.1_Missense_Mutation_p.T275I NM_000165 NP_000156 P17302 CXA1_HUMAN Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. 275 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TCCTCACCAACCGCTCCCCTC 0.517000 11 23 0 0 0.003330 0 0 APOLD1 81575 broad.mit.edu 37 12 12940208 12940208 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:12940208C>T uc001rau.4 + 1 546 c.462C>T c.(460-462)atC>atT p.I154I DDX47_uc001rav.3_Intron|APOLD1_uc001raw.4_Silent_p.I123I NM_001130415 NP_001123887 Q96LR9 APLD1_HUMAN Homo sapiens apolipoprotein L domain containing 1 (APOLD1), transcript variant 1, mRNA. 154 angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process extracellular region|integral to membrane|plasma membrane lipid binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 5 Prostate(47;0.0632) BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149) TGCAGGAGATCGCGGCCACCT 0.677000 37 43 0 0 0.006999 0 0 ARSK 153642 broad.mit.edu 37 5 94918713 94918713 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:94918713C>T uc003kld.3 + 3 668 c.510C>T c.(508-510)gtC>gtT p.V170V ARSK_uc010jbg.3_Silent_p.V11V|ARSK_uc011cum.2_Non-coding_Transcript NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN Homo sapiens arylsulfatase family, member K (ARSK), mRNA. 170 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) GGACTAAAGTCAGAGTGATGG 0.413000 47 29 0 0 0.007291 0 0 ADAM7 8756 broad.mit.edu 37 8 24349506 24349506 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:24349506G>A uc003xeb.3 + 13 1560 c.1447G>A c.(1447-1449)Gac>Aac p.D483N ADAM7_uc003xec.3_Missense_Mutation_p.D255N NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 483 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CTGTCCTAAGGACCAGTTCAG 0.473000 59 57 0 0 0.014410 0 0 SLC46A1 113235 broad.mit.edu 37 17 26732175 26732175 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:26732175C>T uc002hbf.2 - 1 638 c.540G>A c.(538-540)cgG>cgA p.R180R SLC46A1_uc021ttr.1_Silent_p.R180R|SLC46A1_uc010wak.2_Silent_p.R180R NM_080669 NP_542400 Q96NT5 PCFT_HUMAN Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA. 180 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity lung(5) 5 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) GCAGGGCCATCCGGAAGGTGC 0.667000 7 6 0 0 0.001168 0 0 C19orf57 79173 broad.mit.edu 37 19 14000670 14000670 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:14000670G>A uc002mxl.1 - 5 1058 c.999C>T c.(997-999)tcC>tcT p.S333S C19orf57_uc002mxk.1_Silent_p.S215S NM_024323 NP_077299 Q0VDD7 CS057_HUMAN Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA. 333 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CCATCCCGAGGGAGGAGCATC 0.652000 11 14 0 0 0.002450 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51917062 51917062 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:51917062C>T uc002pwo.3 - 9 1947 c.1725G>A c.(1723-1725)ccG>ccA p.P575P SIGLEC10_uc002pwp.3_Silent_p.P517P|SIGLEC10_uc021uyl.1_Silent_p.P397P|SIGLEC10_uc002pwq.3_Silent_p.P422P|SIGLEC10_uc010ycz.2_Silent_p.P432P|SIGLEC10_uc002pws.2_Silent_p.P332P|SIGLEC10_uc002pwr.3_Silent_p.P480P|SIGLEC10_uc010ycy.2_Silent_p.P390P|SIGLEC10_uc010eow.3_Silent_p.P292P|LOC100129083_uc021uym.1_5'Flank NM_033130 NP_149121 Q96LC7 SIG10_HUMAN Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA. 575 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding p.P575P(2)|p.P517P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) TCCGTCTCTTCGGTAGAATCT 0.567000 49 29 0 0 0.007291 0 0 TRPC3 7222 broad.mit.edu 37 4 122854149 122854149 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:122854149C>T uc003ieg.2 - 1 338 c.264G>A c.(262-264)gaG>gaA p.E88E TRPC3_uc010inr.2_Silent_p.E15E|TRPC3_uc003ief.2_Silent_p.E15E|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA. 3 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GCCGGCCCTTCTCCCGCATCA 0.597000 21 8 0 0 0.008291 0 0 DPPA3 359787 broad.mit.edu 37 12 7867913 7867913 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:7867913G>A uc001qtf.3 + 1 295 c.217G>A c.(217-219)Gaa>Aaa p.E73K NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA. 73 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) AGTCCTCAGGGAAATCGAAGA 0.473000 23 15 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179580331 179580331 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179580331C>T uc021vsy.1 - 85 22303 c.22078G>A c.(22078-22080)Gtg>Atg p.V7360M TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4021M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8287 Ig-like 55. 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) AGCACAGCCACCGAGTCAACG 0.468000 24 13 0 0 0.013537 0 0 LMF1 64788 broad.mit.edu 37 16 921330 921330 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:921330G>A uc021tae.1 - 6 913 c.909C>T c.(907-909)atC>atT p.I303I LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Silent_p.I86I|LMF1_uc021tad.1_Silent_p.I134I|LMF1_uc010bri.2_Silent_p.I66I|LMF1_uc002ckk.2_Silent_p.I86I NM_022773 NP_073610 Q96S06 LMF1_HUMAN Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA. 303 endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 18 Hepatocellular(780;0.00308) TCCCGCTGACGATGAGGACGG 0.662000 14 12 0 0 0.013537 0 0 HSP90B3P 343477 broad.mit.edu 37 1 92108892 92108892 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:92108892C>T uc010osx.2 + 2 919 c.919C>T c.(919-921)Cct>Tct p.P307S Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA. GGCTGAATCTCCTCCATCTGT 0.428000 31 19 0 0 0.014323 0 0 CAND2 23066 broad.mit.edu 37 3 12859147 12859147 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:12859147G>A uc003bxk.2 + 9 2765 c.2716G>A c.(2716-2718)Gct>Act p.A906T CAND2_uc003bxj.2_Missense_Mutation_p.A813T NM_001162499 NP_001155971 O75155 CAND2_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA. 906 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GCAGATCGAGGCTGAGCCCCG 0.672000 49 40 0 0 0.007835 0 0 MUC13 56667 broad.mit.edu 37 3 124627080 124627080 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:124627080G>A uc003ehq.2 - 10 1489 c.1450C>T c.(1450-1452)Cct>Tct p.P484S NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN Homo sapiens mucin 13, cell surface associated (MUC13), mRNA. 484 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 CTGACCTTAGGAAAGACGCTC 0.488000 28 24 0 0 0.003954 0 0 IL31RA 133396 broad.mit.edu 37 5 55185847 55185847 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:55185847A>G uc003jql.3 + 5 848 c.656A>G c.(655-657)aAc>aGc p.N219S IL31RA_uc003jqk.3_Missense_Mutation_p.N219S|IL31RA_uc011cqj.2_Missense_Mutation_p.N77S|IL31RA_uc003jqm.3_Missense_Mutation_p.N200S|IL31RA_uc003jqn.3_Missense_Mutation_p.N219S|IL31RA_uc010iwa.1_Missense_Mutation_p.N187S|IL31RA_uc021xyq.1_Missense_Mutation_p.N200S|IL31RA_uc003jqo.3_Missense_Mutation_p.N77S NM_139017 NP_001229568 Q8NI17 IL31R_HUMAN Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA. 187 Fibronectin type-III 2. JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CAAACGTACAACCTCACGGGG 0.453000 20 16 0 0 0.004990 0 0 TMEM119 338773 broad.mit.edu 37 12 108985776 108985776 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:108985776G>A uc001tng.3 - 1 547 c.384C>T c.(382-384)taC>taT p.Y128Y TMEM119_uc021rdl.1_Silent_p.Y128Y NM_181724 NP_859075 Q4V9L6 TM119_HUMAN Homo sapiens transmembrane protein 119 (TMEM119), mRNA. 128 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 AGGACGATGGGTAATAGGCCG 0.637000 12 11 0 0 0.008291 0 0 SALL3 27164 broad.mit.edu 37 18 76753485 76753485 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:76753485C>T uc002lmt.3 + 1 1494 c.1494C>T c.(1492-1494)ccC>ccT p.P498P SALL3_uc010dra.3_Silent_p.P105P NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I497S(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGGGCATCCCCTACGGCATGT 0.662000 14 11 0 0 0.001855 0 0 PDGFC 56034 broad.mit.edu 37 4 157693952 157693952 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:157693952C>T uc003iph.2 - 3 1080 c.589G>A c.(589-591)Gaa>Aaa p.E197K PDGFC_uc003ipi.2_Missense_Mutation_p.E34K|PDGFC_uc011cis.2_Missense_Mutation_p.E34K|PDGFC_uc011cir.2_Missense_Mutation_p.E41K NM_016205 NP_057289 Q9NRA1 PDGFC_HUMAN Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA. 197 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) ATAAGGTCTTCCAAGGTACTA 0.438000 30 14 0 0 0.002450 0 0 ZNF609 23060 broad.mit.edu 37 15 64791939 64791939 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:64791939C>T uc002ann.3 + 0 321 c.321C>T c.(319-321)tcC>tcT p.S107S ZNF609_uc010bgy.3_Silent_p.S107S NM_015042 NP_055857 O15014 ZN609_HUMAN Homo sapiens zinc finger protein 609 (ZNF609), mRNA. 107 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAGGGACTTCCCTGTTCACTC 0.547000 27 19 0 0 0.007413 0 0 ZNF208 7757 broad.mit.edu 37 19 22154481 22154481 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:22154481C>T uc021urr.1 - 3 3504 c.3355G>A c.(3355-3357)Ggc>Agc p.G1119S ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) AAGCTTTTGCCACATTCTTCA 0.378000 41 26 0 0 0.003954 0 0 CDH13 1012 broad.mit.edu 37 16 83712034 83712034 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:83712034G>A uc010vns.2 + 10 1911 c.1647G>A c.(1645-1647)acG>acA p.T549T CDH13_uc002fgx.3_Silent_p.T502T|CDH13_uc010vnt.2_Silent_p.T248T|CDH13_uc010vnu.2_Silent_p.T463T NM_001220488 NP_001207417 P55290 CAD13_HUMAN Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA. 502 Cadherin 4. Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGAATGCCACGGACCCCGACT 0.602000 19 18 0 0 0.004990 0 0 TET2 54790 broad.mit.edu 37 4 106156272 106156272 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:106156272C>T uc011cez.2 + 2 1641 c.1236C>T c.(1234-1236)tcC>tcT p.S412S TET2_uc003hxk.3_Silent_p.S391S|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Silent_p.S391S|TET2_uc010ilp.2_Silent_p.S391S|TET2_uc021xql.1_Silent_p.S391S NM_001127208 NP_001120680 Q6N021 TET2_HUMAN Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA. 391 Pro-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CTAAGGATTCCTTTTCTGCCA 0.458000 """Mis N, F""" MDS 55 23 0 0 0.003954 0 0 FCN1 2219 broad.mit.edu 37 9 137808221 137808221 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:137808221C>T uc004cfi.3 - 1 279 c.190G>A c.(190-192)Gga>Aga p.G64R NM_002003 NP_001994 O00602 FCN1_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA. 64 Collagen-like. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) CCTGCCTCTCCCTTTGGCCCT 0.642000 110 122 0 0 0.014410 0 0 CMYA5 202333 broad.mit.edu 37 5 79030995 79030995 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:79030995C>T uc003kgc.3 + 1 6479 c.6407C>T c.(6406-6408)tCc>tTc p.S2136F NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 2136 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AAACCCATCTCCTCAATCCAT 0.448000 32 33 0 0 0.013726 0 0 SDK1 221935 broad.mit.edu 37 7 4277376 4277376 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:4277376C>T uc003smx.3 + 41 6229 c.6090C>T c.(6088-6090)gtC>gtT p.V2030V SDK1_uc010kso.3_Silent_p.V1286V|SDK1_uc003smy.3_Silent_p.V517V|SDK1_uc003smz.3_Silent_p.V90V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 2030 cell adhesion integral to membrane p.V2030F(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCGCCCTCGTCCTGCACGGGC 0.572000 51 32 0 0 0.003755 0 0 DNAH5 1767 broad.mit.edu 37 5 13864608 13864608 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:13864608C>T uc003jfd.2 - 27 4536 c.4494G>A c.(4492-4494)agG>agA p.R1498R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1498 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E1497K(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGGTGGTTATCCTTTCCCAGT 0.458000 Kartagener syndrome 31 17 0 0 0.004990 0 0 SETD7 80854 broad.mit.edu 37 4 140444586 140444586 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:140444586G>A uc003ihw.3 - 4 852 c.566C>T c.(565-567)tCa>tTa p.S189L NM_030648 NP_085151 Q8WTS6 SETD7_HUMAN Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA. 189 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 all_hematologic(180;0.156) GTGGTACACTGAATCTGAAAA 0.373000 74 48 0 0 0.014410 0 0 CSMD2 114784 broad.mit.edu 37 1 34090703 34090703 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:34090703G>A uc001bxm.1 - 33 5625 c.5448C>T c.(5446-5448)ctC>ctT p.L1816L CSMD2_uc001bxn.1_Silent_p.L1776L|CSMD2_uc001bxo.1_Silent_p.L689L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1776 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAGGCACAGGGAGGCACTCGA 0.657000 50 25 0 0 0.005443 0 0 PROX2 283571 broad.mit.edu 37 14 75330053 75330053 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:75330053C>T uc021rwo.1 - 0 485 c.485G>A c.(484-486)gGg>gAg p.G162E PROX2_uc001xqp.2_Missense_Mutation_p.G162E|PROX2_uc001xqq.2_Missense_Mutation_p.G162E NM_001080408 NP_001229936 Q3B8N5 PROX2_HUMAN Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA. 162 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GCCTCCTGGCCCCTGAGCTGT 0.607000 26 23 0 0 0.014323 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013371 149013371 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:149013371C>T uc022cgq.1 + 0 325 c.325C>T c.(325-327)Cgg>Tgg p.R109W MAGEA8_uc022cgo.1_Missense_Mutation_p.R109W|MAGEA8_uc004fdw.2_Missense_Mutation_p.R109W|MAGEA8_uc022cgp.1_Missense_Mutation_p.R109W NM_005364 NP_005355 P43361 MAGA8_HUMAN Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA. 109 NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) GTCCCTGTTCCGGGAAGCACT 0.542000 12 57 0 0 0.014410 0 0 LILRB1 10859 broad.mit.edu 37 19 55143953 55143953 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:55143953C>T uc002qgj.3 + 6 1040 c.700C>T c.(700-702)Cct>Tct p.P234S LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.P234S|LILRB1_uc002qgk.3_Missense_Mutation_p.P234S|LILRB1_uc002qgm.3_Missense_Mutation_p.P234S|LILRB1_uc010erq.3_Missense_Mutation_p.P234S|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 234 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.P234S(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GCAGCCAGGTCCTATCGTGGC 0.537000 HNSCC(37;0.09) 52 30 0 0 0.010818 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612250 16612250 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:16612250C>T uc002gqk.1 + 4 955 c.879C>T c.(877-879)ctC>ctT p.L293L CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA. 293 AATTAAAACTCGTCATAAATG 0.363000 42 26 0 0 0.003755 0 0 PAPPA 5069 broad.mit.edu 37 9 118969759 118969759 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:118969759G>A uc004bjn.3 + 2 1884 c.1503G>A c.(1501-1503)ctG>ctA p.L501L PAPPA_uc011lxp.1_Silent_p.L294L|PAPPA_uc011lxq.2_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 501 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TTAATGAGCTGAAGAACATTC 0.413000 30 25 0 0 0.005443 0 0 ALDH3A1 218 broad.mit.edu 37 17 19642820 19642820 + Splice_Site SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:19642820C>T uc002gwk.3 - 6 1730 c.1467_splice c.e6+1 p.K489_splice ALDH3A1_uc010cqu.3_Splice_Site_p.K372_splice|ALDH3A1_uc010vzd.2_Splice_Site_p.K372_splice|ALDH3A1_uc002gwj.3_Splice_Site_p.K372_splice|ALDH3A1_uc010cqv.3_Splice_Site_p.K371_splice|ALDH3A1_uc002gwl.1_Splice_Site_p.K299_splice P30838 AL3A1_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA. 372 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) CCACCACCCACCTTGTCGTTG 0.627000 12 9 0 0 0.006214 0 0 NDUFS7 374291 broad.mit.edu 37 19 1390911 1390911 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:1390911C>T uc002lsf.2 + 5 571 c.462C>T c.(460-462)gcC>gcT p.A154A NDUFS7_uc002lsh.3_Silent_p.A154A|NDUFS7_uc002lsg.2_Silent_p.A97A|NDUFS7_uc002lse.4_Silent_p.A90A O75251 NDUS7_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7), nuclear gene encoding mitochondrial protein, mRNA. 90 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding|protein binding|quinone binding ovary(1) 1 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) NADH(DB00157) CCTGCTGCGCCGTGGAGATGA 0.701000 32 17 0 0 0.010504 0 0 PNISR 25957 broad.mit.edu 37 6 99851718 99851719 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:99851718_99851719GG>AA uc003ppo.4 - 9 1370_1371 c.1142_1143CC>TT c.(1141-1143)tcc>tTT p.S381F PNISR_uc021zdd.1_5'Flank|PNISR_uc003ppp.4_Missense_Mutation_p.S381F|PNISR_uc011eag.2_Missense_Mutation_p.S381F NM_032870 NP_116259 Q8TF01 PNISR_HUMAN Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA. 381 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 GTCCAGTGAGGGAAGCCAGTGC 0.426000 4 14 0 0 0.004672 0 0 ACSM2B 348158 broad.mit.edu 37 16 20576154 20576154 + Missense_Mutation SNP C T T rs144570025 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:20576154C>T uc002dhj.4 - 2 224 c.14G>A c.(13-15)cGa>cAa p.R5Q ACSM2B_uc002dhk.4_Missense_Mutation_p.R5Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.R5Q NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 5 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding p.R5Q(2)|p.R5*(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CTGAACTTTTCGCAGCCAATG 0.498000 40 20 0 0 0.014323 0 0 KIAA0556 23247 broad.mit.edu 37 16 27689234 27689234 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:27689234T>C uc002dow.3 + 6 749 c.725T>C c.(724-726)gTt>gCt p.V242A KIAA0556_uc002dox.1_Missense_Mutation_p.V150A NM_015202 NP_056017 O60303 K0556_HUMAN Homo sapiens KIAA0556 (KIAA0556), mRNA. 242 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CAGAAAGATGTTCACGGGGAA 0.567000 33 23 0 0 0.003330 0 0 C12orf35 55196 broad.mit.edu 37 12 32145457 32145458 + Missense_Mutation DNP TC GT GT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:32145457_32145458TC>GT uc001rks.3 + 5 5646_5647 c.5232_5233TC>GT c.(5230-5235)agtcct>agGTct p.1744_1745SP>RS NM_018169 NP_060639 Q9HCM1 CL035_HUMAN Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA. 1744 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 59 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) TTGGTAGCAGTCCTGTAAAATA 0.356000 123 49 0 0 0.004672 0 0 SERPINF2 5345 broad.mit.edu 37 17 1649139 1649139 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:1649139C>T uc002ftk.1 + 4 380 c.303C>T c.(301-303)tcC>tcT p.S101S SERPINF2_uc010vqr.1_Intron|SERPINF2_uc021tnm.1_Silent_p.S101S NM_000934 NP_001159392 P08697 A2AP_HUMAN Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA. 101 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) CTCAAACGTCCACCTGCCCCA 0.637000 55 40 0 0 0.009718 0 0 FASN 2194 broad.mit.edu 37 17 80038593 80038593 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:80038593G>A uc002kdu.3 - 38 6918 c.6801C>T c.(6799-6801)ccC>ccT p.P2267P FASN_uc002kdv.1_Non-coding_Transcript NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 2267 Thioesterase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GGCCATAGGTGGGGATGCTGA 0.682000 15 8 0 0 0.004482 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455560 187455560 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:187455560G>A uc003izd.1 - 1 354 c.336C>T c.(334-336)atC>atT p.I112I NM_005958 NP_005949 P48039 MTR1A_HUMAN Homo sapiens melatonin receptor 1A (MTNR1A), mRNA. 112 G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior integral to plasma membrane melatonin receptor activity p.V111I(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) ATATGGAGCCGATGACGCTCA 0.527000 22 27 0 0 0.009535 0 0 TIGD3 220359 broad.mit.edu 37 11 65123767 65123767 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:65123767C>T uc021qlj.1 + 0 488 c.488C>T c.(487-489)tCc>tTc p.S163F TIGD3_uc001odo.4_Missense_Mutation_p.S163F NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA. 163 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 CTGCCTCTTTCCCTAAAAGAC 0.587000 119 56 0 0 0.014410 0 0 ZC3H18 124245 broad.mit.edu 37 16 88664701 88664701 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:88664701C>T uc010voz.2 + 4 1076 c.876C>T c.(874-876)ctC>ctT p.L292L ZC3H18_uc021tmm.1_Silent_p.L292L|ZC3H18_uc010voy.1_Silent_p.L151L|ZC3H18_uc002fky.3_Silent_p.L268L NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA. 268 Pro-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CCCCGCCTCTCGGACCTCACC 0.537000 58 38 0 0 0.008740 0 0 C6 729 broad.mit.edu 37 5 41195973 41195973 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:41195973C>T uc003jmk.2 - 4 718 c.508G>A c.(508-510)Gaa>Aaa p.E170K C6_uc003jml.1_Missense_Mutation_p.E170K NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 170 LDL-receptor class A. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CAGTCCCTTTCATCTGAATTG 0.413000 44 30 0 0 0.009535 0 0 FAT3 120114 broad.mit.edu 37 11 92531183 92531183 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:92531183C>T uc001pdj.4 + 8 5021 c.5004C>T c.(5002-5004)caC>caT p.H1668H NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1668 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.H1668Q(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACAATTCTCACCCCAAGTTCA 0.438000 TCGA Ovarian(4;0.039) 90 211 0 0 0.014410 0 0 GTSF1L 149699 broad.mit.edu 37 20 42354942 42354942 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:42354942C>T uc002xld.3 - 0 701 c.393G>A c.(391-393)acG>acA p.T131T GTSF1L_uc002xlc.3_Silent_p.T106T NM_176791 NP_789761 Q9H1H1 GTSFL_HUMAN Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA. 131 metal ion binding p.T131T(2) endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CTGACTCTTTCGTGTCATTTT 0.478000 42 38 0 0 0.006999 0 0 DUOX2 50506 broad.mit.edu 37 15 45401027 45401027 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:45401027G>A uc001zun.3 - 11 1561 c.1358C>T c.(1357-1359)cCa>cTa p.P453L DUOX2_uc010bea.3_Missense_Mutation_p.P453L NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 453 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCAGTTCCTTGGGATGTCCAG 0.522000 47 28 0 0 0.008361 0 0 CHN1 1123 broad.mit.edu 37 2 175742644 175742644 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:175742644T>C uc002uji.3 - 5 814 c.473A>G c.(472-474)aAa>aGa p.K158R CHN1_uc010zeq.2_Missense_Mutation_p.K158R|CHN1_uc002ujj.3_Intron NM_001822 NP_001813 P15882 CHIN_HUMAN Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA. 158 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding p.Y157C(1) NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) CATATGTTTTTTGTATGCTGG 0.418000 T TAF15 extraskeletal myxoid chondrosarcoma 47 50 0 0 0.014410 0 0 C1orf222 339457 broad.mit.edu 37 1 1854151 1854151 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:1854151G>A uc001aik.3 - 9 1543 c.693C>T c.(691-693)ttC>ttT p.F231F C1orf222_uc001ail.3_Silent_p.F231F Q69YW0 CA222_HUMAN RecName: Full=Uncharacterized protein C1orf222; 231 breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1) 11 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGTCTATGCTGAACTCAACGG 0.622000 38 23 0 0 0.004656 0 0 SRPX2 27286 broad.mit.edu 37 X 99920558 99920558 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:99920558G>A uc004egb.3 + 6 1165 c.685G>A c.(685-687)Ggc>Agc p.G229S NM_014467 NP_055282 O60687 SRPX2_HUMAN Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA. 229 HYR. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 CCCTGAGCCTGGCTCTCACTT 0.522000 7 42 0 0 0.008740 0 0 TEX15 56154 broad.mit.edu 37 8 30701209 30701209 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:30701209C>T uc003xil.3 - 0 5325 c.5325G>A c.(5323-5325)agG>agA p.R1775R NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 1775 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AATTCTTTTCCCTTTTTGTTT 0.318000 16 10 0 0 0.006214 0 0 NCOA2 10499 broad.mit.edu 37 8 71128914 71128914 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:71128914G>A uc003xyn.1 - 2 229 c.67C>T c.(67-69)Cct>Tct p.P23S NM_006540 NP_006531 Q15596 NCOA2_HUMAN Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA. 23 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGTTGGTCAGGACATTCCTTG 0.418000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 54 43 0 0 0.014410 0 0 PROX1 5629 broad.mit.edu 37 1 214170398 214170398 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:214170398C>T uc001hkh.3 + 1 792 c.520C>T c.(520-522)Cgg>Tgg p.R174W PROX1_uc001hkg.1_Missense_Mutation_p.R174W NM_002763 NP_002754 Q92786 PROX1_HUMAN Homo sapiens prospero homeobox 1 (PROX1), mRNA. 174 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GAATATAATTCGGGGTATGAG 0.498000 88 29 0 0 0.009535 0 0 RPIA 22934 broad.mit.edu 37 2 89049514 89049515 + Silent DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:89049514_89049515CC>TT uc002ste.3 + 8 896_897 c.855_856CC>TT c.(853-858)ggccta>ggTTta p.285_286GL>GL NM_144563 NP_653164 P49247 RPIA_HUMAN Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA. 285 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) TGGACACAGGCCTATTCATCAA 0.490000 40 24 0 0 0.004672 0 0 PEAR1 375033 broad.mit.edu 37 1 156883008 156883008 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:156883008C>T uc001fqj.1 + 18 2561 c.2445C>T c.(2443-2445)caC>caT p.H815H PEAR1_uc001fqk.1_Silent_p.H440H NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 815 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTACAGTCACTACTACTCCA 0.607000 68 112 0 0 0.014410 0 0 FAM46C 54855 broad.mit.edu 37 1 118165667 118165667 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:118165667G>A uc021osq.1 + 0 177 c.177G>A c.(175-177)ctG>ctA p.L59L FAM46C_uc001ehe.3_Silent_p.L59L NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA. 59 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) GCAGTCGGCTGGAGGAGGCAG 0.562000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 45 25 0 0 0.004656 0 0 NSMAF 8439 broad.mit.edu 37 8 59508133 59508133 + Silent SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:59508133A>G uc011lee.2 - 21 2032 c.1971T>C c.(1969-1971)taT>taC p.Y657Y NSMAF_uc003xtt.3_Silent_p.Y626Y NM_001144772 NP_001138244 Q92636 FAN_HUMAN Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA. 626 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) TGTGGATTTTATAGTGCTCGT 0.423000 29 19 0 0 0.014323 0 0 ZNF507 22847 broad.mit.edu 37 19 32843872 32843872 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:32843872C>T uc002nte.3 + 2 408 c.136C>T c.(136-138)Cat>Tat p.H46Y ZNF507_uc002ntc.2_Missense_Mutation_p.H46Y|ZNF507_uc010xrn.1_Missense_Mutation_p.H46Y|ZNF507_uc002ntd.3_Missense_Mutation_p.H46Y NM_001136156 NP_055725 Q8TCN5 ZN507_HUMAN Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA. 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TCCATTAATCCATGTTATCCA 0.373000 20 15 0 0 0.003163 0 0 C14orf21 161424 broad.mit.edu 37 14 24769901 24769901 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:24769901C>T uc001wol.1 + 1 598 c.535C>T c.(535-537)Ctg>Ttg p.L179L C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank NM_174913 NP_777573 Q86U38 CN021_HUMAN Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA. 179 RNA binding breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3) 17 GBM - Glioblastoma multiforme(265;0.0185) CACGGAGACCCTGGAGGAGCT 0.552000 73 39 0 0 0.008740 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52002861 52002861 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:52002861C>T uc002pwx.1 - 2 974 c.918G>A c.(916-918)acG>acA p.T306T SIGLEC12_uc002pww.1_Silent_p.T188T|SIGLEC12_uc010eoy.1_Silent_p.T33T NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA. 306 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding p.T306M(1) NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TCCAGGTGATCGTGGGGGGCG 0.667000 29 26 0 0 0.005443 0 0 CRYBB2 1415 broad.mit.edu 37 22 25625498 25625498 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:25625498C>T uc003abp.1 + 4 450 c.402C>T c.(400-402)gcC>gcT p.A134A NM_000496 NP_000487 P43320 CRBB2_HUMAN Homo sapiens crystallin, beta B2 (CRYBB2), mRNA. 134 Beta/gamma crystallin 'Greek key' 3. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 GCTTCCACGCCCATGGCTACC 0.547000 14 16 0 0 0.010504 0 0 RBMY2EP 159125 broad.mit.edu 37 Y 23563409 23563409 + RNA SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrY:23563409T>C uc004fun.1 - 0 c.40A>G Homo sapiens RNA binding motif protein, Y-linked, family 2, member E pseudogene (RBMY2EP), non-coding RNA. TAAGCATCTTTTCATTGGTTT 0.393000 18 3 0 0 0.000602 0 0 C2orf77 129881 broad.mit.edu 37 2 170510670 170510670 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:170510670C>T uc002ufe.2 - 5 968 c.874G>A c.(874-876)Gaa>Aaa p.E292K NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA. 292 endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2) 23 TCATCTTCTTCCTCTTGCTGC 0.328000 5 5 0 0 0.000602 0 0 ITSN2 50618 broad.mit.edu 37 2 24521542 24521542 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:24521542C>T uc002rfe.2 - 12 1744 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K ITSN2_uc002rff.2_Missense_Mutation_p.E496K|ITSN2_uc002rfg.3_Missense_Mutation_p.E496K|ITSN2_uc010eyd.2_Missense_Mutation_p.E521K NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA. 496 endocytosis|regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCAGTGCTTCCAACTCAAGA 0.408000 42 31 0 0 0.013726 0 0 RALYL 138046 broad.mit.edu 37 8 85799935 85799935 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:85799935G>A uc003yct.4 + 7 955 c.821G>A c.(820-822)gGa>gAa p.G274E RALYL_uc003ycq.4_Missense_Mutation_p.G261E|RALYL_uc003ycr.4_Missense_Mutation_p.G261E|RALYL_uc003ycs.4_Missense_Mutation_p.G261E|RALYL_uc010lzy.3_Missense_Mutation_p.G250E|RALYL_uc003ycu.4_Missense_Mutation_p.G188E NM_001100391 NP_776247 Q86SE5 RALYL_HUMAN Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA. 261 RNA binding|identical protein binding|nucleotide binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 CCTGCTGAAGGAGGGCCAGAT 0.488000 52 27 0 0 0.006320 0 0 SALL1 6299 broad.mit.edu 37 16 51175289 51175289 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:51175289A>C uc021tif.1 - 1 875 c.553T>G c.(553-555)Ttg>Gtg p.L185V SALL1_uc021tid.1_Missense_Mutation_p.L185V|SALL1_uc021tie.1_Missense_Mutation_p.L282V|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 282 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGCGTGGACAAGGGGTTGGCA 0.493000 61 41 0 0 0.006230 0 0 PCID2 55795 broad.mit.edu 37 13 113852557 113852557 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:113852557A>C uc021rmt.1 - 2 229 c.148T>G c.(148-150)Tgt>Ggt p.C50G PCID2_uc021rmq.1_Missense_Mutation_p.C50G|PCID2_uc021rmr.1_Missense_Mutation_p.C50G|PCID2_uc021rms.1_Missense_Mutation_p.C50G|PCID2_uc001vtg.2_Non-coding_Transcript NM_018386 NP_060856 Q5JVF3 PCID2_HUMAN Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA. 50 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) ACTTGTTGACACTTCTCCTCT 0.358000 67 51 0 0 0.014410 0 0 OR6C2 341416 broad.mit.edu 37 12 55846693 55846693 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:55846693G>A uc001sgz.1 + 0 696 c.696G>A c.(694-696)agG>agA p.R232R NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 TTCAGCAAAGGAAAAAGGCCT 0.413000 67 55 0 0 0.014410 0 0 COL21A1 81578 broad.mit.edu 37 6 55933915 55933915 + Splice_Site SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:55933915C>T uc003pcs.3 - 22 2252 c.2020_splice c.e22-1 p.G674_splice COL21A1_uc010jzz.3_Splice_Site_p.G59_splice|COL21A1_uc011dxg.2_Splice_Site_p.G59_splice|COL21A1_uc011dxh.2_Splice_Site_p.G59_splice|COL21A1_uc003pcr.3_Splice_Site_p.R31_splice NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 674 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CCTGGTTCTCCCTATGTAACA 0.408000 13 10 0 0 0.008291 0 0 NF1 4763 broad.mit.edu 37 17 29556163 29556163 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:29556163C>T uc002hgg.3 + 20 2913 c.2530C>T c.(2530-2532)Ctt>Ttt p.L844F NF1_uc002hgh.3_Missense_Mutation_p.L844F|NF1_uc010csn.2_Missense_Mutation_p.L704F|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 844 L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic). MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GACTGGCTTCCTTTGTGCCCT 0.517000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 21 22 0 0 0.010504 0 0 PABPC4 8761 broad.mit.edu 37 1 40033455 40033455 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:40033455A>G uc001cdl.2 - 6 1838 c.940T>C c.(940-942)Ttt>Ctt p.F314L PABPC4_uc010oiv.1_Missense_Mutation_p.F314L|PABPC4_uc001cdm.2_Missense_Mutation_p.F314L|SNORA55_uc001cdo.1_5'Flank NM_001135653 NP_001129125 Q13310 PABP4_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA. 314 RRM 4. RNA catabolic process|RNA processing|blood coagulation|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding p.E313D(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AAAGGAGAAAATTCTTTCCTT 0.368000 33 21 0 0 0.003954 0 0 SPEG 10290 broad.mit.edu 37 2 220349257 220349257 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:220349257G>A uc010fwg.3 + 29 7072 c.7072G>A c.(7072-7074)Gag>Aag p.E2358K NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2358 Arg-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TTCGCGCTCGGAGGAGCGCGG 0.716000 5 4 0 0 0.001168 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5237115 5237115 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:5237115A>T uc003jdl.3 + 13 2195 c.2057A>T c.(2056-2058)gAa>gTa p.E686V ADAMTS16_uc003jdk.1_Missense_Mutation_p.E686V|ADAMTS16_uc010itk.1_Intron NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 686 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TGTATCGCAGAAGGATTTGAT 0.353000 54 35 0 0 0.004878 0 0 DPYS 1807 broad.mit.edu 37 8 105393486 105393486 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:105393486C>T uc003yly.4 - 8 1629 c.1500G>A c.(1498-1500)ctG>ctA p.L500L DPYS_uc010mcf.1_Silent_p.L70L NM_001385 NP_001376 Q14117 DPYS_HUMAN Homo sapiens dihydropyrimidinase (DPYS), mRNA. 500 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTCTGGATTTCAGTGTGGCGA 0.493000 32 22 0 0 0.002780 0 0 COL21A1 81578 broad.mit.edu 37 6 56033065 56033065 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:56033065G>A uc003pcs.3 - 5 1289 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.R353C|COL21A1_uc003pcu.1_Missense_Mutation_p.R353C NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 353 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity p.R353H(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ACTAAGAGACGAATTTGGTGC 0.348000 16 5 0 0 0.001168 0 0 GK 2710 broad.mit.edu 37 X 30736685 30736685 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:30736685C>T uc022buj.1 + 13 1185 c.1006C>T c.(1006-1008)Cgc>Tgc p.R336C GK_uc004dch.4_Missense_Mutation_p.R336C|GK_uc010ngj.3_Missense_Mutation_p.R330C|GK_uc004dci.4_Missense_Mutation_p.R330C|GK_uc011mjz.2_Missense_Mutation_p.R131C|GK_uc011mka.2_Missense_Mutation_p.R173C|GK_uc010ngk.3_Missense_Mutation_p.R125C NM_001205019 NP_001191948 P32189 GLPK_HUMAN Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA. 336 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 TGCTGTTATTCGCTGGCTAAG 0.333000 2 14 0 0 0.004007 0 0 HMGCL 3155 broad.mit.edu 37 1 24130967 24130967 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:24130967G>A uc001bib.3 - 7 843 c.799C>T c.(799-801)Ccc>Tcc p.P267S HMGCL_uc010oec.2_Missense_Mutation_p.P196S|HMGCL_uc001bic.3_Missense_Mutation_p.P242S|HMGCL_uc009vqs.1_Missense_Mutation_p.P160S|HMGCL_uc021oii.1_Missense_Mutation_p.P72S NM_000191 NP_000182 P35914 HMGCL_HUMAN Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 267 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) TGTGCGTAGGGACAGCCTCCA 0.562000 41 26 0 0 0.003330 0 0 UTP20 27340 broad.mit.edu 37 12 101763530 101763530 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:101763530G>A uc001tia.1 + 48 6572 c.6416G>A c.(6415-6417)tGg>tAg p.W2139* NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 2139 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TGCCTCATCTGGGTCTTGAGG 0.493000 86 64 0 0 0.014410 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564804 46564804 + Nonsense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:46564804G>A uc001ncv.2 - 6 1077 c.763C>T c.(763-765)Cag>Tag p.Q255* AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q255*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q255*|AMBRA1_uc010rgu.1_Nonsense_Mutation_p.Q255*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q255*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q255* NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 345 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TCTCCCACCTGGATGCCAGAA 0.627000 10 9 0 0 0.008291 0 0 MYO5C 55930 broad.mit.edu 37 15 52571191 52571191 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:52571191G>A uc010bff.3 - 3 490 c.328C>T c.(328-330)Cct>Tct p.P110S MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.P73S|MIR1266_uc021smp.1_5'Flank NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 110 Myosin head-like. myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TGCTTGTAAGGATTCATGGCC 0.448000 59 34 0 0 0.008740 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52003339 52003339 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:52003339C>T uc002pwx.1 - 1 699 c.643G>A c.(643-645)Gat>Aat p.D215N SIGLEC12_uc002pww.1_Missense_Mutation_p.D97N|SIGLEC12_uc010eoy.1_Intron NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA. 215 Ig-like V-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCGTGGGTATCCTCTTGCACT 0.532000 64 42 0 0 0.008740 0 0 VN1R1 57191 broad.mit.edu 37 19 57967429 57967429 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:57967429G>A uc002qos.2 - 0 679 c.426C>T c.(424-426)ctC>ctT p.L142L NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA. 142 response to pheromone integral to membrane|plasma membrane pheromone receptor activity p.L142I(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) GGAATCCATTGAGAAGGCAGA 0.428000 47 32 0 0 0.013726 0 0 MORC1 27136 broad.mit.edu 37 3 108690227 108690227 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:108690227G>A uc003dxl.3 - 24 2587 c.2500C>T c.(2500-2502)Cct>Tct p.P834S MORC1_uc011bhn.2_Missense_Mutation_p.P813S NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 834 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGATGCTCAGGAAAAAAATAC 0.403000 37 20 0 0 0.010504 0 0 ANK3 288 broad.mit.edu 37 10 61815586 61815586 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:61815586G>A uc001jky.3 - 41 13233 c.12895C>T c.(12895-12897)Cca>Tca p.P4299S ANK3_uc001jkw.3_Missense_Mutation_p.P923S|ANK3_uc009xpa.3_Missense_Mutation_p.P923S|ANK3_uc001jkx.3_Missense_Mutation_p.P967S|ANK3_uc010qih.2_Missense_Mutation_p.P1790S|ANK3_uc001jkz.4_Missense_Mutation_p.P1783S|ANK3_uc001jkv.3_Missense_Mutation_p.P322S NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 4299 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCTGCTAGTGGTGATGCTGGT 0.393000 90 75 0 0 0.014410 0 0 NLRP8 126205 broad.mit.edu 37 19 56487619 56487619 + Silent SNP C T T rs61734100 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:56487619C>T uc002qmh.3 + 7 2897 c.2826C>T c.(2824-2826)atC>atT p.I942I NLRP8_uc010etg.3_Silent_p.I923I NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 942 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ATGGGGTGATCCTGCTGTGTG 0.453000 50 36 0 0 0.006230 0 0 TMEM63B 55362 broad.mit.edu 37 6 44116100 44116100 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:44116100C>T uc003owr.3 + 12 1163 c.1099C>T c.(1099-1101)Cac>Tac p.H367Y TMEM63B_uc003owq.1_Missense_Mutation_p.H367Y|TMEM63B_uc003ows.3_Missense_Mutation_p.H270Y|TMEM63B_uc010jyz.3_Non-coding_Transcript NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN Homo sapiens transmembrane protein 63B (TMEM63B), mRNA. 367 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) TGTCACCTTCCACAATGAGAC 0.572000 56 76 0 0 0.014410 0 0 C15orf55 256646 broad.mit.edu 37 15 34649254 34649254 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:34649254A>T uc010ucc.2 + 7 3427 c.3045A>T c.(3043-3045)gaA>gaT p.E1015D C15orf55_uc010ucd.2_Missense_Mutation_p.E1005D|C15orf55_uc001zif.3_Missense_Mutation_p.E987D NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 987 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) TTCCGAGAGAAACTTCTGTTA 0.473000 T """BRD3, BRD4""" lethal midline carcinoma 18 14 0 0 0.001855 0 0 ASAH2 56624 broad.mit.edu 37 10 52005023 52005023 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:52005023C>T uc001jjd.3 - 1 319 c.319G>A c.(319-321)Gga>Aga p.G107R ASAH2_uc009xos.3_Missense_Mutation_p.G107R NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA. 107 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 TCAGCTCGTCCAACACCAATA 0.448000 122 81 0 0 0.014410 0 0 SLC2A14 144195 broad.mit.edu 37 12 7966932 7966933 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:7966932_7966933CC>TT uc010sgh.2 - 9 1608_1609 c.1587_1588GG>AA c.(1585-1590)aaggag>aaAAag p.E530K SLC2A14_uc001qtk.3_Missense_Mutation_p.E515K|SLC2A14_uc001qtl.3_Missense_Mutation_p.E492K|SLC2A14_uc001qtm.3_Missense_Mutation_p.E492K|SLC2A14_uc010sgg.2_Missense_Mutation_p.E406K|SLC2A14_uc001qtn.3_Missense_Mutation_p.E515K|SLC2A14_uc001qto.3_Missense_Mutation_p.E150K NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 515 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) GTGGTGGTCTCCTTAGCAGGCT 0.550000 121 66 0 0 0.004672 0 0 PNPLA6 10908 broad.mit.edu 37 19 7619498 7619498 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:7619498C>T uc010xjq.2 + 22 2793 c.2553C>T c.(2551-2553)atC>atT p.I851I PNPLA6_uc002mgq.2_Silent_p.I803I|PNPLA6_uc010xjp.2_Silent_p.I776I|PNPLA6_uc002mgr.2_Silent_p.I803I|PNPLA6_uc002mgs.3_Silent_p.I841I NM_001166111 NP_001159583 Q8IY17 PLPL6_HUMAN Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA. 842 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 CACACCGTATCGTACTCTACC 0.662000 43 23 0 0 0.003954 0 0 PKHD1 5314 broad.mit.edu 37 6 51890262 51890262 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:51890262C>T uc003pah.1 - 31 4622 c.4346G>A c.(4345-4347)gGt>gAt p.G1449D PKHD1_uc003pai.3_Missense_Mutation_p.G1449D NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1449 IPT/TIG 9. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.E1448V(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CAAGGGGTCACCCTCCAGGCT 0.522000 55 28 0 0 0.007291 0 0 ABCC9 10060 broad.mit.edu 37 12 21968756 21968756 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:21968756C>T uc001rfh.3 - 31 3984 c.3964G>A c.(3964-3966)Gaa>Aaa p.E1322K ABCC9_uc001rfi.1_Missense_Mutation_p.E1322K NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1322 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGATTATTTTCATATCTGACA 0.398000 43 27 0 0 0.006320 0 0 RREB1 6239 broad.mit.edu 37 6 7229427 7229427 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:7229427C>T uc003mxb.3 + 9 1587 c.1095C>T c.(1093-1095)gcC>gcT p.A365A RREB1_uc021yky.1_Silent_p.A365A|RREB1_uc003mxc.3_Silent_p.A365A|RREB1_uc010jnx.3_Silent_p.A365A|RREB1_uc021ykz.1_Silent_p.A365A|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 365 Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GCTTCCTGGCCTTGCTTGGCC 0.642000 6 21 0 0 0.002780 0 0 OR10A3 26496 broad.mit.edu 37 11 7960955 7960955 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:7960955G>A uc010rbi.2 - 0 113 c.113C>T c.(112-114)aCc>aTc p.T38I NM_001003745 NP_001003745 P58181 O10A3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA. 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCCCATCAGGGTCACCACATA 0.473000 38 32 0 0 0.009535 0 0 ADAM30 11085 broad.mit.edu 37 1 120438853 120438854 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:120438853_120438854CC>TT uc001eij.3 - 0 294_295 c.106_107GG>AA c.(106-108)ggg>AAg p.G36K NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 36 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.G36W(2) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GTCAAACTCCCCTTCAGGGTGA 0.500000 292 213 0 0 0.004672 0 0 FAT2 2196 broad.mit.edu 37 5 150946913 150946913 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:150946913C>T uc003lue.4 - 0 1593 c.1580G>A c.(1579-1581)aGa>aAa p.R527K FAT2_uc010jhx.1_Missense_Mutation_p.R527K NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 527 Cadherin 4. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.R527I(2) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTATAAATTCTTTTCATGAG 0.463000 48 38 0 0 0.009718 0 0 SELE 6401 broad.mit.edu 37 1 169699598 169699599 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:169699598_169699599CC>TT uc001ggm.4 - 4 846_847 c.689_690GG>AA c.(688-690)tgg>tAA p.W230* C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 230 Sushi 1. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TAGGAGCACTCCATTCTCCAGA 0.460000 119 36 0 0 0.004672 0 0 EPHA6 285220 broad.mit.edu 37 3 96706498 96706498 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:96706498C>T uc010how.1 + 2 818 c.775C>T c.(775-777)Cgc>Tgc p.R259C EPHA6_uc003drp.1_Missense_Mutation_p.R259C NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 164 integral to plasma membrane ATP binding|ephrin receptor activity p.R165S(2)|p.R259S(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TTTGGGTGATCGCATCCTCAA 0.443000 148 113 0 0 0.014410 0 0 OTOL1 131149 broad.mit.edu 37 3 161221358 161221358 + Silent SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:161221358T>C uc011bpb.2 + 3 1062 c.1062T>C c.(1060-1062)ccT>ccC p.P354P NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN Homo sapiens otolin 1 (OTOL1), mRNA. 354 C1q. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 AGCCATTTCCTCCTCCTAACA 0.493000 15 15 0 0 0.006122 0 0 MSH4 4438 broad.mit.edu 37 1 76313948 76313948 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:76313948C>T uc001dhd.2 + 7 1332 c.1217C>T c.(1216-1218)cCa>cTa p.P406L NM_002440 NP_002431 O15457 MSH4_HUMAN Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA. 406 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 GTCCAAATTCCAAAGCAAGAC 0.274000 Mismatch excision repair (MMR) 34 24 0 0 0.005443 0 0 TPTE 7179 broad.mit.edu 37 21 10914431 10914431 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:10914431C>T uc002yip.1 - 20 1656 c.1288G>A c.(1288-1290)Gat>Aat p.D430N TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D412N|TPTE_uc002yir.1_Missense_Mutation_p.D392N|TPTE_uc010gkv.1_Missense_Mutation_p.D292N NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 430 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATTTTTAGATCACGTACATAA 0.313000 30 5 0 0 0.001984 0 0 CLGN 1047 broad.mit.edu 37 4 141315179 141315179 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:141315179C>T uc011chi.2 - 11 1384 c.1166G>A c.(1165-1167)cGa>cAa p.R389Q CLGN_uc003iii.3_Missense_Mutation_p.R389Q NM_001130675 NP_004353 O14967 CLGN_HUMAN Homo sapiens calmegin (CLGN), transcript variant 2, mRNA. 389 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) AGGAATTTTTCGAGGACTCCA 0.343000 20 13 0 0 0.002450 0 0 CAPN13 92291 broad.mit.edu 37 2 30959436 30959436 + Splice_Site SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:30959436A>C uc021vfn.1 - 17 1686 c.1654_splice c.e17-1 p.L552_splice CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Splice_Site_p.L548_splice NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 552 EF-hand 1. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) ATTCACTTTCAGCTGGGTAAG 0.552000 35 18 0 0 0.008871 0 0 MARCO 8685 broad.mit.edu 37 2 119727733 119727733 + Silent SNP C T T rs75633112 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:119727733C>T uc002tln.1 + 2 375 c.243C>T c.(241-243)ttC>ttT p.F81F MARCO_uc010yyf.1_Silent_p.F3F NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 81 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AGATGTATTTCCTCAATGACA 0.582000 45 27 0 0 0.009535 0 0 MUC2 4583 broad.mit.edu 37 11 1093803 1093803 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:1093803C>T uc001lsx.1 + 31 5637 c.5610C>T c.(5608-5610)acC>acT p.T1870T NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 1952 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGTCAACCACCCTTCTGAGTA 0.617000 127 81 0 0 0.014410 0 0 FLNB 2317 broad.mit.edu 37 3 58109178 58109178 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:58109178G>A uc003djj.2 + 20 3650 c.3485G>A c.(3484-3486)gGa>gAa p.G1162E FLNB_uc010hne.2_Missense_Mutation_p.G1162E|FLNB_uc003djk.2_Missense_Mutation_p.G1162E|FLNB_uc010hnf.2_Missense_Mutation_p.G1162E|FLNB_uc003djl.2_Missense_Mutation_p.G993E|FLNB_uc003djm.2_Missense_Mutation_p.G993E NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 1162 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TCGGAAGCGGGACCGGGGGCC 0.607000 56 36 0 0 0.006999 0 0 IL28B 282617 broad.mit.edu 37 19 39734691 39734691 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:39734691G>A uc010xut.2 - 2 367 c.365C>T c.(364-366)cCc>cTc p.P122L IL28B_uc010xuu.2_Missense_Mutation_p.P122L NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA. 122 response to virus extracellular space cytokine activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGTGTGAAGGGGCTGGTCCAA 0.667000 42 36 0 0 0.004878 0 0 CSMD3 114788 broad.mit.edu 37 8 113314061 113314061 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:113314061A>C uc003ynu.3 - 52 8560 c.8401T>G c.(8401-8403)Tcc>Gcc p.S2801A CSMD3_uc003yns.3_Missense_Mutation_p.S2003A|CSMD3_uc003ynt.3_Missense_Mutation_p.S2761A|CSMD3_uc011lhx.2_Missense_Mutation_p.S2632A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2801 Sushi 17. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGACCTGAGGAAAGGCATTCC 0.443000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 18 0 0 0.014323 0 0 AKAP9 10142 broad.mit.edu 37 7 91714235 91714235 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:91714235C>T uc003ulg.3 + 34 9038 c.8813C>T c.(8812-8814)tCc>tTc p.S2938F AKAP9_uc003ulf.3_Missense_Mutation_p.S2930F|AKAP9_uc003uli.3_Missense_Mutation_p.S2561F|AKAP9_uc003ulj.3_Missense_Mutation_p.S708F|AKAP9_uc003ulk.3_Missense_Mutation_p.S213F NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 2942 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCAACAGATTCCTTTCCAAAG 0.378000 T BRAF papillary thyroid 57 39 0 0 0.006230 0 0 MGAT5B 146664 broad.mit.edu 37 17 74936821 74936821 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:74936821C>T uc002jti.3 + 12 1869 c.1766C>T c.(1765-1767)tCc>tTc p.S589F MGAT5B_uc002jth.3_Missense_Mutation_p.S578F NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA. 580 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 CAGGTGTTCTCCCAGCATCCC 0.542000 55 102 0 0 0.014410 0 0 AK024141 0 broad.mit.edu 37 14 73079414 73079414 + RNA SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:73079414C>T uc010arh.1 - 0 c.390G>A Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4. AGCTTTGCATCCCTTTGATAG 0.448000 6 9 0 0 0.004482 0 0 GPC5 2262 broad.mit.edu 37 13 92797119 92797119 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:92797119G>A uc010tif.2 + 6 1804 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K NM_004466 NP_004457 P78333 GPC5_HUMAN Homo sapiens glypican 5 (GPC5), mRNA. 480 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGACAAGTGGGAACTTCTTCA 0.428000 24 14 0 0 0.003163 0 0 OR51S1 119692 broad.mit.edu 37 11 4869859 4869859 + Missense_Mutation SNP G A A rs142743963 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:4869859G>A uc010qyo.2 - 0 580 c.580C>T c.(580-582)Cgt>Tgt p.R194C NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA. 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R194C(4) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGCCAAACGAGCCACATCT 0.552000 57 48 0 0 0.014410 0 0 LPXN 9404 broad.mit.edu 37 11 58295604 58295604 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:58295604G>A uc001nmw.3 - 7 948 c.803C>T c.(802-804)cCc>cTc p.P268L LPXN_uc009ymp.3_Missense_Mutation_p.P138L|LPXN_uc010rkj.2_Missense_Mutation_p.P273L|LPXN_uc010rkk.2_Missense_Mutation_p.P248L NM_004811 NP_004802 O60711 LPXN_HUMAN Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA. 268 LIM zinc-binding 3. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) ACCACACTTGGGTGAGAACAT 0.473000 73 46 0 0 0.014410 0 0 FLG2 388698 broad.mit.edu 37 1 152323795 152323795 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:152323795C>T uc001ezw.4 - 2 6540 c.6467G>A c.(6466-6468)aGa>aAa p.R2156K AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 2156 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCCATGTCTAGTGGTATC 0.502000 421 112 0 0 0.014410 0 0 GCKR 2646 broad.mit.edu 37 2 27726407 27726407 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:27726407C>T uc002rky.3 + 8 737 c.671C>T c.(670-672)tCa>tTa p.S224L GCKR_uc010ezd.3_Missense_Mutation_p.S224L|GCKR_uc010ylu.2_Missense_Mutation_p.S34L NM_001486 NP_001477 Q14397 GCKR_HUMAN Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA. 224 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding p.S224*(2) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) GACTGGAGTTCAACATTCCGA 0.493000 21 13 0 0 0.003163 0 0 TGM5 9333 broad.mit.edu 37 15 43548859 43548859 + Silent SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:43548859T>C uc001zrd.2 - 3 470 c.462A>G c.(460-462)gaA>gaG p.E154E TGM5_uc001zre.2_Silent_p.E72E NM_201631 NP_963925 O43548 TGM5_HUMAN Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA. 154 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GCCTCTGGGGTTCACTGTCCA 0.522000 61 55 0 0 0.014410 0 0 WEE2 494551 broad.mit.edu 37 7 141420806 141420806 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:141420806C>T uc003vwn.2 + 4 1236 c.830C>T c.(829-831)tCc>tTc p.S277F FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA. 277 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) CGTTACTATTCCTCATGGGCA 0.403000 61 32 0 0 0.013726 0 0 MGA 23269 broad.mit.edu 37 15 42050032 42050032 + Nonsense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:42050032C>T uc010ucy.2 + 18 7367 c.7186C>T c.(7186-7188)Cga>Tga p.R2396* MGA_uc010ucz.2_Nonsense_Mutation_p.R2187*|MGA_uc010uda.1_Nonsense_Mutation_p.R1012* NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 2357 Helix-loop-helix motif. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TGAAAGGAGTCGAAAGGTATT 0.323000 33 28 0 0 0.004289 0 0 FRY 10129 broad.mit.edu 37 13 32722017 32722017 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:32722017C>T uc001utx.3 + 12 1821 c.1325C>T c.(1324-1326)tCc>tTc p.S442F FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCCAAAGGGTCCCGCGGTGTG 0.463000 54 56 0 0 0.014410 0 0 CTNND2 1501 broad.mit.edu 37 5 11565168 11565168 + Splice_Site SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:11565168C>T uc003jfa.1 - 3 320 c.175_splice c.e3-1 p.E59_splice CTNND2_uc010itt.2_Splice_Site|CTNND2_uc011cmy.1_Splice_Site|CTNND2_uc011cmz.1_Splice_Site|CTNND2_uc010itu.1_Splice_Site NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 59 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 AACTGTAATTCCTGAAAGAAA 0.468000 19 11 0 0 0.008291 0 0 POU6F2 11281 broad.mit.edu 37 7 39504141 39504141 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:39504141G>A uc003thb.2 + 10 2075 c.1932G>A c.(1930-1932)ctG>ctA p.L644L POU6F2_uc022acb.1_Silent_p.L608L NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 644 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CTGAGAAGCTGAACTATGACC 0.502000 14 6 0 0 0.003080 0 0 CXADR 1525 broad.mit.edu 37 21 18937815 18937815 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:18937815C>T uc002yki.3 + 6 1127 c.903C>T c.(901-903)tcC>tcT p.S301S CXADR_uc002ykh.2_Missense_Mutation_p.P214L|CXADR_uc010gld.2_Missense_Mutation_p.P162L|CXADR_uc010gle.2_3'UTR|CXADR_uc021whp.1_Silent_p.S260S|CXADR_uc002ykj.2_Silent_p.S301S NM_001338 NP_001329 P78310 CXAR_HUMAN Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA. 301 blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) ATCATTCATCCCTGGGGTCCA 0.488000 40 30 0 0 0.007291 0 0 RPE65 6121 broad.mit.edu 37 1 68910229 68910229 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:68910229C>T uc001dei.1 - 4 534 c.480G>A c.(478-480)ttG>ttA p.L160L NM_000329 NP_000320 Q16518 RPE65_HUMAN Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA. 160 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 TAATTGTCTCCAAGGTCTCTG 0.388000 58 36 0 0 0.006999 0 0 PSD4 23550 broad.mit.edu 37 2 113940600 113940600 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:113940600C>T uc002tjc.3 + 1 750 c.567C>T c.(565-567)ccC>ccT p.P189P PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.P188P|PSD4_uc002tjf.3_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 189 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCTGTCTCCCCACGCCCCCTG 0.642000 28 23 0 0 0.014323 0 0 PIM2 11040 broad.mit.edu 37 X 48771762 48771762 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:48771762G>A uc004dls.3 - 4 984 c.682C>T c.(682-684)Ctc>Ttc p.L228F SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank NM_006875 NP_006866 Q9P1W9 PIM2_HUMAN Homo sapiens pim-2 oncogene (PIM2), mRNA. 228 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 ATGTCATAGAGGAGGATGCCC 0.592000 3 30 0 0 0.012213 0 0 ANKRD19P 138649 broad.mit.edu 37 9 95600017 95600017 + RNA SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:95600017G>A uc004ass.2 + 8 c.2101G>A ANKRD19P_uc004asr.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA. GACACCTGAGGAAAGGGTACT 0.393000 4 5 0 0 0.000602 0 0 ZNF99 7652 broad.mit.edu 37 19 22941052 22941052 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:22941052C>T uc021urt.1 - 3 1814 c.1659G>A c.(1657-1659)atG>atA p.M553I NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTTATGTTTCATAAGGGTTG 0.333000 33 26 0 0 0.007291 0 0 MBD5 55777 broad.mit.edu 37 2 149221445 149221445 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:149221445C>T uc002twm.4 + 7 1351 c.354C>T c.(352-354)gcC>gcT p.A118A MBD5_uc010zbs.2_Non-coding_Transcript NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 118 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) GCATGGAAGCCCCACATCCTT 0.443000 34 13 0 0 0.013537 0 0 TCEB3C 162699 broad.mit.edu 37 18 44554608 44554608 + Missense_Mutation SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:44554608T>A uc010xdb.2 - 0 1842 c.1606A>T c.(1606-1608)Att>Ttt p.I536F KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 536 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TAGTCTCGAATTGCCTTGGCC 0.597000 447 22 0 0 0.007291 0 0 RAF1 5894 broad.mit.edu 37 3 12660032 12660032 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:12660032C>T uc003bxf.4 - 1 604 c.189G>A c.(187-189)ccG>ccA p.P63P RAF1_uc011auu.2_Missense_Mutation_p.R19Q NM_002880 NP_002871 P04049 RAF1_HUMAN Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA. 63 RBD. Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) TTTGCTTGTTCGGCAAGAAAA 0.418000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 61 31 0 0 0.005524 0 0 MYO15A 51168 broad.mit.edu 37 17 18022448 18022448 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:18022448C>T uc021trm.1 + 0 553 c.334C>T c.(334-336)Cca>Tca p.P112S MYO15A_uc021trl.1_Missense_Mutation_p.P112S NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 112 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GATCCGCTTCCCAGGCCGCCG 0.612000 9 8 0 0 0.004482 0 0 TM4SF5 9032 broad.mit.edu 37 17 4685877 4685877 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:4685877G>A uc002fyw.1 + 2 369 c.338G>A c.(337-339)cGa>cAa p.R113Q NM_003963 NP_003954 O14894 T4S5_HUMAN Homo sapiens transmembrane 4 L six family member 5 (TM4SF5), mRNA. 113 integral to plasma membrane large_intestine(2)|lung(3)|ovary(1) 6 GCTGGGCTCCGAAATGGACCC 0.577000 37 18 0 0 0.007413 0 0 PLIN4 729359 broad.mit.edu 37 19 4513543 4513543 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:4513543G>A uc002mar.1 - 2 387 c.387C>T c.(385-387)gtC>gtT p.V129V PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN Homo sapiens perilipin 4 (PLIN4), mRNA. 129 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TGGCCCCTGTGACCCCGCTGG 0.657000 14 7 0 0 0.003080 0 0 HOXB4 3214 broad.mit.edu 37 17 46655307 46655307 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:46655307G>A uc002inp.3 - 0 437 c.375C>T c.(373-375)aaC>aaT p.N125N HOXB3_uc010wlm.2_Intron|HOXB3_uc010dbf.3_Intron|HOXB3_uc010dbg.3_Intron|HOXB3_uc010wlk.2_5'Flank|HOXB3_uc010wll.2_Intron NM_024015 NP_076920 P17483 HXB4_HUMAN Homo sapiens homeobox B4 (HOXB4), mRNA. 125 Pro-rich (part of the transcriptional activation domain). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 GGTGCAGGGGGTTCTGGGCGC 0.751000 20 40 0 0 0.013114 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128209 68128209 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:68128209C>T uc002jiq.3 + 2 217 c.77C>T c.(76-78)tCc>tTc p.S26F KCNJ16_uc002jin.3_5'UTR|KCNJ16_uc002jio.3_5'UTR|KCNJ16_uc002jip.3_5'UTR|KCNJ16_uc021uch.1_5'Flank NM_170742 NP_733938 Q9NPI9 IRK16_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA. 0 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) TCACCTGGATCCCTAAGGGCA 0.408000 19 20 0 0 0.002780 0 0 FFAR3 2865 broad.mit.edu 37 19 35850639 35850639 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:35850639T>C uc002nzd.3 + 1 922 c.847T>C c.(847-849)Ttc>Ctc p.F283L FFAR3_uc021usm.1_Missense_Mutation_p.F283L NM_005304 NP_005295 O14843 FFAR3_HUMAN Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA. 283 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CTCCTCCGGGTTCCAAGCCGA 0.592000 64 13 0 0 0.008871 0 0 SEC14L3 266629 broad.mit.edu 37 22 30860826 30860826 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr22:30860826C>T uc003ahy.3 - 7 734 c.645G>A c.(643-645)agG>agA p.R215R SEC14L3_uc003ahz.3_Silent_p.R138R|SEC14L3_uc003aia.3_Silent_p.R156R|SEC14L3_uc003aib.3_Silent_p.R156R NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 215 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) CAATAATTTTCCTGCGAGTGT 0.458000 76 64 0 0 0.014410 0 0 SPNS3 201305 broad.mit.edu 37 17 4348463 4348463 + Splice_Site SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:4348463G>A uc002fxt.3 + 3 446 c.402_splice c.e3+1 p.R134_splice SPNS3_uc002fxu.3_Intron NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA. 134 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 TCTCCCCCCGGGTACGTGTCC 0.627000 35 14 0 0 0.004007 0 0 SLC26A7 115111 broad.mit.edu 37 8 92301455 92301455 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:92301455G>A uc003yez.3 + 2 524 c.285G>A c.(283-285)atG>atA p.M95I SLC26A7_uc003yex.3_Missense_Mutation_p.M95I|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.M95I NM_134266 NP_599028 Q8TE54 S26A7_HUMAN Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA. 95 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TATTTGGAATGGGACATCATG 0.388000 70 43 0 0 0.014410 0 0 TRAK1 22906 broad.mit.edu 37 3 42234641 42234641 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:42234641G>A uc003cky.3 + 7 1060 c.844G>A c.(844-846)Gag>Aag p.E282K TRAK1_uc011azh.2_Missense_Mutation_p.E282K|TRAK1_uc011azi.2_Missense_Mutation_p.E282K|TRAK1_uc003ckz.4_Missense_Mutation_p.E208K|TRAK1_uc011azj.2_Missense_Mutation_p.E208K|TRAK1_uc003cla.3_Missense_Mutation_p.E224K NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA. 282 HAP1 N-terminal. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CCGCCAGCAAGAGGAGATCAC 0.468000 52 37 0 0 0.005524 0 0 GPATCH1 55094 broad.mit.edu 37 19 33579090 33579090 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:33579090G>A uc002nug.1 + 1 438 c.124G>A c.(124-126)Gaa>Aaa p.E42K NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN Homo sapiens G patch domain containing 1 (GPATCH1), mRNA. 42 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) TGTCAGAGATGAAAAAGGAAG 0.363000 40 17 0 0 0.004007 0 0 APOM 55937 broad.mit.edu 37 6 31623783 31623783 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:31623783G>A uc003nvl.3 + 0 113 c.40G>A c.(40-42)Ggt>Agt p.G14S APOM_uc003nvk.3_Intron NM_019101 NP_061974 O95445 APOM_HUMAN Homo sapiens apolipoprotein M (APOM), transcript variant 1, mRNA. 14 MFHQIWAALLYFYGIILNSIYQCPEHSQLTTLGVDGKE -> RFPDSIWGSRSDTSGSPQVPKLYFCGARRESPQPQT (in Ref. 3; AAF29014). cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1) 7 CTACTTCTATGGTATTATCCT 0.532000 21 99 0 0 0.014410 0 0 SCN8A 6334 broad.mit.edu 37 12 52200262 52200262 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:52200262C>T uc001ryw.3 + 26 5170 c.4992C>T c.(4990-4992)atC>atT p.I1664I SCN8A_uc010snl.2_Silent_p.I1623I NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 1664 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCATGTTCATCTTCTCCATTT 0.473000 69 48 0 0 0.014410 0 0 ZNF107 51427 broad.mit.edu 37 7 64167242 64167242 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:64167242C>T uc003ttd.3 + 6 1346 c.560C>T c.(559-561)cCc>cTc p.P187L ZNF107_uc003tte.3_Missense_Mutation_p.P187L NM_016220 NP_057304 Q9UII5 ZN107_HUMAN Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA. 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) GAAGAGAAACCCAACAAATGT 0.368000 39 21 0 0 0.010504 0 0 NRXN1 9378 broad.mit.edu 37 2 50758484 50758484 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:50758484G>A uc021vhh.1 - 9 3149 c.2228C>T c.(2227-2229)tCc>tTc p.S743F NRXN1_uc002rxb.4_Missense_Mutation_p.S415F|NRXN1_uc021vhg.1_Missense_Mutation_p.S783F|NRXN1_uc021vhi.1_Missense_Mutation_p.S779F|NRXN1_uc021vhj.1_Missense_Mutation_p.S739F|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 743 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GAACCGTAAGGAAACATCCTC 0.512000 9 14 0 0 0.002450 0 0 FCGR2A 2212 broad.mit.edu 37 1 161476146 161476146 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:161476146G>A uc001gan.3 + 2 182 c.129G>A c.(127-129)ctG>ctA p.L43L FCGR2A_uc001gam.3_Silent_p.L42L|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript NM_001136219 NP_001129691 P12318 FCG2A_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA. 43 Ig-like C2-type 1. integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGGCTGTGCTGAAACTTGAGC 0.587000 90 38 0 0 0.007835 0 0 FBXL3 26224 broad.mit.edu 37 13 77595986 77595986 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:77595986C>T uc001vkd.3 - 1 381 c.10G>A c.(10-12)Gga>Aga p.G4R NM_012158 NP_036290 Q9UKT7 FBXL3_HUMAN Homo sapiens F-box and leucine-rich repeat protein 3 (FBXL3), mRNA. 4 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|regulation of circadian rhythm|rhythmic process SCF ubiquitin ligase complex|cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TCTCTTCCTCCTCGTTTCATC 0.378000 57 43 0 0 0.009718 0 0 PAPPA 5069 broad.mit.edu 37 9 118997703 118997703 + Missense_Mutation SNP C G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:118997703C>G uc004bjn.3 + 6 2900 c.2519C>G c.(2518-2520)aCc>aGc p.T840S PAPPA_uc011lxp.1_Missense_Mutation_p.T535S|PAPPA_uc011lxq.2_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 840 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTCCCACTGACCATCAGACTC 0.532000 14 8 0 0 0.004482 0 0 FSHR 2492 broad.mit.edu 37 2 49190986 49190986 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:49190986C>T uc002rww.3 - 9 1084 c.974G>A c.(973-975)gGa>gAa p.G325E FSHR_uc010fbn.3_Missense_Mutation_p.G299E|FSHR_uc002rwx.3_Missense_Mutation_p.G263E NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 325 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CATGTCAAATCCTCTGCTGTA 0.443000 Gonadal Dysgenesis, 46 XX 73 47 0 0 0.014410 0 0 ALG2 85365 broad.mit.edu 37 9 101980728 101980729 + Silent DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:101980728_101980729GG>AA uc004azf.3 - 1 808_809 c.738_739CC>TT c.(736-741)gcccta>gcTTta p.246_247AL>AL ALG2_uc004azg.3_Silent_p.153_154AL>AL NM_033087 NP_149078 Q9H553 ALG2_HUMAN Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA. 246 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity p.A246A(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) AGCTGTACTAGGGCTTCCAGTG 0.485000 97 53 0 0 0.004672 0 0 RASSF9 9182 broad.mit.edu 37 12 86199418 86199418 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:86199418G>A uc001taf.1 - 1 709 c.370C>T c.(370-372)Cct>Tct p.P124S NM_005447 NP_005438 O75901 RASF9_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA. 124 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CGCCACAAAGGAACTGGAAGA 0.438000 106 70 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179457237 179457237 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179457237C>T uc021vsy.1 - 249 52016 c.51791G>A c.(51790-51792)aGa>aAa p.R17264K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10959K|TTN_uc021vta.1_Missense_Mutation_p.R10892K|TTN_uc021vtb.1_Missense_Mutation_p.R10767K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18191 Fibronectin type-III 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R10959K(1)|p.R17262K(1)|p.R10767K(1)|p.R10892K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACATCAATTCTTGCTTTAGT 0.403000 154 107 0 0 0.014410 0 0 INF2 64423 broad.mit.edu 37 14 105175702 105175702 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:105175702C>T uc001ypb.2 + 10 2177 c.2034C>T c.(2032-2034)ctC>ctT p.L678L INF2_uc001ypc.2_Silent_p.L678L|INF2_uc010awz.1_Non-coding_Transcript NM_022489 NP_071934 Q27J81 INF2_HUMAN Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA. 678 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm Rho GTPase binding|actin binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) TCCTTAAGCTCCTTCCCGAGA 0.602000 24 7 0 0 0.003080 0 0 PDE11A 50940 broad.mit.edu 37 2 178936668 178936668 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:178936668G>A uc002ulq.3 - 0 815 c.497C>T c.(496-498)cCc>cTc p.P166L PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_001070664 Q9HCR9 PDE11_HUMAN Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA. 166 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.P165L(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GGCTGTGGTGGGGGGCAGGGA 0.572000 Primary Pigmented Nodular Adrenocortical Disease, Familial 42 30 0 0 0.010818 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7677206 7677206 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:7677206G>A uc002mgu.4 + 12 2009 c.1908G>A c.(1906-1908)gaG>gaA p.E636E CAMSAP3_uc002mgv.4_Silent_p.E609E|CAMSAP3_uc002mgw.3_5'Flank NM_001080429 NP_001073898 Q9P1Y5 CAMP3_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA. 609 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GGCTGGAGGAGAAACGCAGAG 0.687000 16 3 0 0 0.009096 0 0 OR4N2 390429 broad.mit.edu 37 14 20296115 20296115 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:20296115G>A uc010tkv.2 + 0 508 c.508G>A c.(508-510)Ggc>Agc p.G170S NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCCTTTTTGTGGCCCAAACCA 0.522000 83 49 0 0 0.014410 0 0 STARD13 90627 broad.mit.edu 37 13 33684994 33684994 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:33684994C>T uc001uuw.3 - 10 2784 c.2658G>A c.(2656-2658)gaG>gaA p.E886E STARD13_uc001uuu.3_Silent_p.E878E|STARD13_uc001uuv.3_Silent_p.E768E|STARD13_uc001uux.3_Silent_p.E851E NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 886 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GCACGTGGATCTCAGCCTCCA 0.547000 21 26 0 0 0.009535 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213415166 213415166 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:213415166C>T uc010ptr.2 + 10 2506 c.2347C>T c.(2347-2349)Cat>Tat p.H783Y RPS6KC1_uc001hkd.3_Missense_Mutation_p.H771Y|RPS6KC1_uc010pts.2_Missense_Mutation_p.H571Y|RPS6KC1_uc010ptt.2_Missense_Mutation_p.H571Y|RPS6KC1_uc010ptu.2_Missense_Mutation_p.H602Y|RPS6KC1_uc010ptv.2_Missense_Mutation_p.H318Y|RPS6KC1_uc001hke.3_Missense_Mutation_p.H602Y NM_012424 NP_036556 Q96S38 KS6C1_HUMAN Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA. 783 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AGCTGTTGATCATAGTAGTTC 0.438000 50 39 0 0 0.009718 0 0 GPR98 84059 broad.mit.edu 37 5 89938520 89938520 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:89938520G>A uc003kju.3 + 11 2404 c.2308G>A c.(2308-2310)Gat>Aat p.D770N GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 770 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTGGAAAATGATGACCCTGG 0.408000 74 45 0 0 0.013114 0 0 FMN2 56776 broad.mit.edu 37 1 240371651 240371651 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:240371651C>T uc010pye.2 + 5 3776 c.3551C>T c.(3550-3552)cCt>cTt p.P1184L FMN2_uc010pyd.2_Missense_Mutation_p.P1180L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1180 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCCTCTACCTGGAGTGGGA 0.687000 14 33 0 0 0.013114 0 0 TANC2 26115 broad.mit.edu 37 17 61499089 61499089 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:61499089G>A uc002jal.4 + 24 5769 c.5746G>A c.(5746-5748)Gag>Aag p.E1916K TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.E1027K NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 1916 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CCATTTGCTGGAGGACGATTA 0.532000 25 52 0 0 0.014410 0 0 ERCC4 2072 broad.mit.edu 37 16 14041765 14041765 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:14041765C>T uc002dce.2 + 10 2321 c.2312C>T c.(2311-2313)tCc>tTc p.S771F ERCC4_uc010uyz.1_Missense_Mutation_p.S321F NM_005236 NP_005227 Q92889 XPF_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA. 771 Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 TCTCTCACTTCCCGAGGTGCC 0.522000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 67 43 0 0 0.014410 0 0 PTPN3 5774 broad.mit.edu 37 9 112166832 112166832 + Nonsense_Mutation SNP C A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:112166832C>A uc004bed.2 - 18 1961 c.1849G>T c.(1849-1851)Gaa>Taa p.E617* PTPN3_uc004beb.2_Nonsense_Mutation_p.E486*|PTPN3_uc004bec.2_Nonsense_Mutation_p.E441*|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Nonsense_Mutation_p.E572*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.E463*|PTPN3_uc011lwd.1_Nonsense_Mutation_p.E85*|PTPN3_uc011lwe.1_Nonsense_Mutation_p.E330*|PTPN3_uc011lwf.1_Nonsense_Mutation_p.E285* NM_002829 NP_001138843 P26045 PTN3_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA. 617 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Aaaatggcttcggggaaaagc 0.517000 44 42 4.01765e-15 4.27341e-15 0.009718 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28337755 28337755 + Missense_Mutation SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:28337755A>C uc002ymg.3 - 0 1685 c.956T>G c.(955-957)gTg>gGg p.V319G NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA. 319 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GCCTAGCACCACCACCTTCAC 0.577000 51 36 0 0 0.006230 0 0 CSMD1 64478 broad.mit.edu 37 8 2823345 2823345 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:2823345G>A uc022aqr.1 - 58 9622 c.9232C>T c.(9232-9234)Cgc>Tgc p.R3078C CSMD1_uc011kwj.2_Missense_Mutation_p.R2408C|CSMD1_uc010lrg.3_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3079 Sushi 24. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTGGTACAGCGAATAGTGGCG 0.458000 7 6 0 0 0.001984 0 0 USP19 10869 broad.mit.edu 37 3 49155249 49155249 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:49155249G>A uc003cwd.2 - 3 632 c.313C>T c.(313-315)Cct>Tct p.P105S USP19_uc003cwa.3_Intron|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.P105S|USP19_uc011bcg.2_Missense_Mutation_p.P105S|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Missense_Mutation_p.P105S|USP19_uc011bci.2_Intron NM_006677 NP_006668 O94966 UBP19_HUMAN Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA. 105 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGATCATGAGGGTCTTCACAA 0.527000 21 8 0 0 0.003080 0 0 FREM1 158326 broad.mit.edu 37 9 14750169 14750169 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:14750169C>T uc003zlm.3 - 30 6329 c.5513G>A c.(5512-5514)gGc>gAc p.G1838D FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Missense_Mutation_p.G374D NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1838 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TGTCTTTGTGCCAAGAACTGC 0.418000 69 44 0 0 0.014410 0 0 SCNN1G 6340 broad.mit.edu 37 16 23200907 23200907 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:23200907G>A uc002dlm.1 + 2 672 c.533G>A c.(532-534)aGg>aAg p.R178K NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 178 R -> W. excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity p.G177W(1) NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TTCACAGGGAGGAAGCGGAAA 0.517000 145 70 0 0 0.014410 0 0 COL17A1 1308 broad.mit.edu 37 10 105795286 105795286 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:105795286C>T uc001kxr.3 - 48 3623 c.3454G>A c.(3454-3456)Ggg>Agg p.G1152R NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 1152 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CCAGGGGGCCCCGGGGGACCA 0.617000 17 9 0 0 0.006214 0 0 TUBB6 84617 broad.mit.edu 37 18 12325671 12325671 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:12325671G>A uc002kqw.3 + 3 918 c.883G>A c.(883-885)Gac>Aac p.D295N TUBB6_uc002kqv.3_Missense_Mutation_p.D223N|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA. 295 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) GCAGATGTTCGACGCCAGGAA 0.682000 36 10 0 0 0.008291 0 0 ITGB2 3689 broad.mit.edu 37 21 46326910 46326910 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:46326910C>T uc002zgd.2 - 2 292 c.248G>A c.(247-249)aGc>aAc p.S83N ITGB2_uc002zgf.3_Missense_Mutation_p.S83N|ITGB2_uc011afl.1_Missense_Mutation_p.S5N|ITGB2_uc010gpw.2_Missense_Mutation_p.S83N|ITGB2_uc002zgg.2_Missense_Mutation_p.S83N NM_001127491 NP_001120963 P05107 ITB2_HUMAN Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA. 83 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) TTCAGCGAGGCTTGTGGGGTC 0.612000 53 36 0 0 0.004878 0 0 GCN1L1 10985 broad.mit.edu 37 12 120575018 120575018 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:120575018G>A uc001txo.3 - 49 6782 c.6769C>T c.(6769-6771)Ccg>Tcg p.P2257S NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 2257 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding p.P2257Q(1) NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACCTTCTTCGGGAGGCAGAAT 0.607000 54 40 0 0 0.010771 0 0 ADAM28 10863 broad.mit.edu 37 8 24199208 24199208 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:24199208C>T uc003xdy.3 + 15 1851 c.1768C>T c.(1768-1770)Cct>Tct p.P590S ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.P277S NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 590 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AACATTTGATCCTGAAGACAC 0.423000 65 50 0 0 0.014410 0 0 GPC4 2239 broad.mit.edu 37 X 132445398 132445398 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:132445398G>A uc004exc.1 - 3 977 c.765C>T c.(763-765)tcC>tcT p.S255S GPC4_uc011mvg.1_Silent_p.S185S NM_001448 NP_001439 O75487 GPC4_HUMAN Homo sapiens glypican 4 (GPC4), mRNA. 255 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) CCCGGCAGTGGGAGCAGTAGA 0.483000 12 48 0 0 0.014410 0 0 AMPD1 270 broad.mit.edu 37 1 115219982 115219982 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:115219982G>A uc001efe.2 - 9 1525 c.1477C>T c.(1477-1479)Ccc>Tcc p.P493S AMPD1_uc001eff.2_Missense_Mutation_p.P489S NM_000036 NP_000027 P23109 AMPD1_HUMAN Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. 460 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TAGATCCTGGGAACCTGGATC 0.522000 42 17 0 0 0.006122 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48598488 48598488 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:48598488G>A uc010wmr.2 + 7 1225 c.1063G>A c.(1063-1065)Gac>Aac p.D355N MYCBPAP_uc002iqz.3_Non-coding_Transcript NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Homo sapiens MYCBP associated protein (MYCBPAP), mRNA. 318 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) AGCCCAGAGGGACGCTTCATA 0.567000 10 10 0 0 0.010729 0 0 PTPRC 5788 broad.mit.edu 37 1 198701456 198701456 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:198701456C>T uc001gur.1 + 18 2176 c.1996C>T c.(1996-1998)Cct>Tct p.P666S PTPRC_uc001gut.1_Missense_Mutation_p.P505S|PTPRC_uc009wzf.1_Missense_Mutation_p.P554S|PTPRC_uc021pgy.1_Missense_Mutation_p.P620S|PTPRC_uc010ppg.1_Missense_Mutation_p.P602S NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 666 Tyrosine-protein phosphatase 1. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CAGCAAGTTTCCTATAAAGGA 0.393000 81 20 0 0 0.002780 0 0 C9orf174 100499483 broad.mit.edu 37 9 100071748 100071749 + Missense_Mutation DNP CT TA TA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:100071748_100071749CT>TA uc011lut.2 + 16 1677_1678 c.671_672CT>TA c.(670-672)tct>tTA p.S224L C9orf174_uc004axe.2_Missense_Mutation_p.S224L|C9orf174_uc011lus.2_Missense_Mutation_p.S85L|C9orf174_uc004axg.2_Missense_Mutation_p.S85L|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.S85L|C9orf174_uc011luv.1_Missense_Mutation_p.S85L NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 224 integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 GCAGAGCGTTCTGTGACCCTGA 0.609000 30 22 0 0 0.004672 0 0 CRP 1401 broad.mit.edu 37 1 159683428 159683428 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:159683428C>T uc001ftw.3 - 1 666 c.562G>A c.(562-564)Gag>Aag p.E188K CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript NM_000567 NP_000558 P02741 CRP_HUMAN Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA. 188 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) GTGTTAATCTCATCTGGTGAC 0.517000 211 54 0 0 0.014410 0 0 CCZ1 51622 broad.mit.edu 37 7 5949727 5949727 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:5949727C>T uc003spf.3 + 7 850 c.760C>T c.(760-762)Cca>Tca p.P254S NM_015622 NP_932765 P86790 CCZ1L_HUMAN Homo sapiens CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) (CCZ1), mRNA. 254 lysosomal membrane large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 6 CTCCCTTTTTCCAAGGCACAT 0.473000 49 30 0 0 0.004878 0 0 GMFG 9535 broad.mit.edu 37 19 39820263 39820263 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:39820263G>A uc002okz.4 - 4 314 c.204C>T c.(202-204)ttC>ttT p.F68F GMFG_uc002okx.4_Silent_p.F68F NM_004877 NP_004868 O60234 GMFG_HUMAN Homo sapiens glia maturation factor, gamma (GMFG), mRNA. 68 ADF-H. protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1) 10 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TGTAAACCACGAACCTACCGT 0.512000 21 13 0 0 0.001855 0 0 PRRC2B 84726 broad.mit.edu 37 9 134350076 134350076 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:134350076C>T uc004can.4 + 14 2615 c.2560C>T c.(2560-2562)Cca>Tca p.P854S PRRC2B_uc010mzj.1_Missense_Mutation_p.P437S|PRRC2B_uc004cao.4_Missense_Mutation_p.P212S NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 854 protein binding p.P854L(1) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CAGGTGTTCCCCATTGGAGCC 0.527000 8 12 0 0 0.001855 0 0 NCOA1 8648 broad.mit.edu 37 2 24920556 24920556 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:24920556C>T uc002rfk.3 + 8 1097 c.838C>T c.(838-840)Ctg>Ttg p.L280L NCOA1_uc010eye.3_Silent_p.L280L|NCOA1_uc002rfi.3_Silent_p.L129L|NCOA1_uc002rfj.3_Silent_p.L280L|NCOA1_uc002rfl.3_Silent_p.L280L NM_003743 NP_003734 Q15788 NCOA1_HUMAN Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA. 280 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACTAGTTCCCTGAGAGCTGC 0.368000 T PAX3 alveolar rhadomyosarcoma 17 17 0 0 0.006122 0 0 FLG 2312 broad.mit.edu 37 1 152278879 152278879 + Missense_Mutation SNP G T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:152278879G>T uc001ezu.1 - 2 8519 c.8483C>A c.(8482-8484)tCc>tAc p.S2828Y NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2828 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCCCACGGGAGGCATCAGA 0.577000 Ichthyosis 445 170 1.63516e-101 1.75054e-101 0.014410 1 0 MORC1 27136 broad.mit.edu 37 3 108818307 108818307 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:108818307G>A uc003dxl.3 - 5 408 c.321C>T c.(319-321)tcC>tcT p.S107S MORC1_uc011bhn.2_Silent_p.S107S NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 107 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CAATTCTCATGGACCCACTAT 0.353000 18 16 0 0 0.003163 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21796672 21796672 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:21796672G>A uc001wag.3 + 17 2985 c.2985G>A c.(2983-2985)aaG>aaA p.K995K RPGRIP1_uc001wah.3_Silent_p.K637K|RPGRIP1_uc001wai.3_Silent_p.K321K|RPGRIP1_uc001wak.3_Silent_p.K470K|RPGRIP1_uc010aim.3_Silent_p.K378K|RPGRIP1_uc001wal.3_Silent_p.K354K|RPGRIP1_uc001wam.3_Silent_p.K312K NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 995 Interaction with RPGR. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GAAAGGAGAAGGAGCACCAGG 0.423000 39 26 0 0 0.005443 0 0 USP6 9098 broad.mit.edu 37 17 5076225 5076225 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:5076225G>A uc002gau.1 + 37 6403 c.4173G>A c.(4171-4173)acG>acA p.T1391T USP6_uc002gav.1_Silent_p.T1391T|USP6_uc010ckz.1_Silent_p.T1074T NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 1391 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CAAGCAGTACGGATGAAGACT 0.468000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 43 29 0 0 0.006320 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093368 30093368 + RNA SNP C G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:30093368C>G uc010dmc.3 + 0 c.1743C>G Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA. TTGGTACCTCCCCTTGGGATC 0.488000 27 12 0 0 0.001855 0 0 RAI1 10743 broad.mit.edu 37 17 17699012 17699012 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:17699012C>T uc002grm.3 + 2 3219 c.2750C>T c.(2749-2751)cCg>cTg p.P917L RAI1_uc002grn.1_Missense_Mutation_p.P917L NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 917 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TGGGGCTCTCCGTGCCACCTC 0.632000 18 14 0 0 0.003163 0 0 ARFIP1 27236 broad.mit.edu 37 4 153750825 153750825 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:153750825C>T uc003imz.3 + 1 316 c.40C>T c.(40-42)Cca>Tca p.P14S ARFIP1_uc003inb.3_Missense_Mutation_p.P14S|ARFIP1_uc003ina.3_Missense_Mutation_p.P14S|ARFIP1_uc003inc.3_Missense_Mutation_p.P14S|ARFIP1_uc011cij.2_Missense_Mutation_p.P14S NM_001025595 NP_001020766 P53367 ARFP1_HUMAN Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA. 14 intracellular protein transport|regulation of protein secretion Golgi membrane|cytosol ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) AGCAGAAATTCCAGTGACTAG 0.363000 80 47 0 0 0.014410 0 0 TRPM1 4308 broad.mit.edu 37 15 31358298 31358298 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:31358298G>A uc021sia.1 - 5 1136 c.822C>T c.(820-822)tcC>tcT p.S274S TRPM1_uc010azy.3_Silent_p.S148S|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.S257S|TRPM1_uc001zfm.3_Silent_p.S235S|MIR211_uc010ubm.1_5'Flank NM_001252020 NP_001238949 Q7Z4N2 TRPM1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA. 235 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TCTTCTGCAGGGAGATGTGCT 0.547000 54 41 0 0 0.009718 0 0 PTPRO 5800 broad.mit.edu 37 12 15636986 15636986 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:15636986C>T uc001rcv.2 + 1 624 c.154C>T c.(154-156)Cca>Tca p.P52S PTPRO_uc001rcw.2_Missense_Mutation_p.P52S|PTPRO_uc001rcu.2_Missense_Mutation_p.P52S NM_030667 NP_109592 Q16827 PTPRO_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA. 52 Fibronectin type-III 1. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CGTCATCAGTCCAGCATCTGT 0.363000 45 27 0 0 0.004656 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74365120 74365120 + Silent SNP T C C rs150515307 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:74365120T>C uc002axa.1 - 12 1505 c.1464A>G c.(1462-1464)ctA>ctG p.L488L DQ582073_uc021sqc.1_5'Flank NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA. 488 p.Q487*(1)|p.L488I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 GCTGGGTCTCTAGCTGTTGGT 0.612000 81 12 0 0 0.003163 0 0 COL3A1 1281 broad.mit.edu 37 2 189850473 189850473 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:189850473G>A uc002uqj.1 + 3 533 c.416G>A c.(415-417)gGa>gAa p.G139E NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 139 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) GGCCCCCCTGGAATCTGTGAA 0.448000 27 21 0 0 0.003954 0 0 CBL 867 broad.mit.edu 37 11 119103291 119103291 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr11:119103291G>A uc001pwe.3 + 1 467 c.329G>A c.(328-330)gGa>gAa p.G110E NM_005188 NP_005179 P22681 CBL_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA. 110 4H.|Cbl-PTB. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GAGACACTTGGAGAAAATGAG 0.398000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 13 20 0 0 0.010504 0 0 CNTN6 27255 broad.mit.edu 37 3 1414564 1414564 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:1414564C>T uc003boz.3 + 13 1978 c.1711C>T c.(1711-1713)Cat>Tat p.H571Y CNTN6_uc011asj.2_Missense_Mutation_p.H499Y|CNTN6_uc003bpa.3_Missense_Mutation_p.H571Y NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 571 Ig-like C2-type 6. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TCAGTTACATCATTCAGGAAA 0.368000 52 42 0 0 0.013114 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623343 21623343 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:21623343G>A uc010tlp.2 - 0 842 c.842C>T c.(841-843)tCg>tTg p.S281L NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA. 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S281S(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) GCCCTGGGCCGAGCTCATTTT 0.488000 19 10 0 0 0.008291 0 0 DDX60L 91351 broad.mit.edu 37 4 169362542 169362542 + Missense_Mutation SNP G A A rs34420455 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:169362542G>A uc021xuh.1 - 8 1350 c.1240C>T c.(1240-1242)Cct>Tct p.P414S DDX60L_uc003irq.4_Missense_Mutation_p.P414S|DDX60L_uc003irr.1_Missense_Mutation_p.P414S|DDX60L_uc003irs.1_Missense_Mutation_p.P141S NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA. 414 ATP binding|ATP-dependent helicase activity|RNA binding p.F413L(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GTTCTCAGAGGAAAAGACTTT 0.373000 63 32 0 0 0.009535 0 0 POLG 5428 broad.mit.edu 37 15 89867054 89867055 + Silent DNP GG AT AT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:89867054_89867055GG>AT uc002bns.4 - 11 2430_2431 c.2148_2149CC>AT c.(2146-2151)ccccta>ccATta p.716_717PL>PL POLG_uc002bnr.4_Silent_p.716_717PL>PL NM_002693 NP_002684 P54098 DPOG1_HUMAN Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA. 716 DNA-dependent DNA replication|base-excision repair, gap-filling|cell death mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) ACCAGAGCTAGGGGTTGACCTG 0.569000 DNA polymerases (catalytic subunits) 42 20 0 0 0.004672 0 0 DGUOK 1716 broad.mit.edu 37 2 74154162 74154162 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:74154162C>T uc002sjx.3 + 0 210 c.125C>T c.(124-126)tCc>tTc p.S42F DGUOK_uc002sjy.3_Missense_Mutation_p.S42F|DGUOK_uc002sjz.3_Non-coding_Transcript NM_080916 NP_550438 Q16854 DGUOK_HUMAN Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 42 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 CGAAGGCTCTCCATCGAAGGC 0.667000 39 33 0 0 0.003271 0 0 PRRC2A 7916 broad.mit.edu 37 6 31594906 31594906 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:31594906C>T uc003nvb.4 + 10 1470 c.1221C>T c.(1219-1221)gcC>gcT p.A407A PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Silent_p.A407A NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 407 2 X type B repeats.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding p.A407A(2) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GACCTCCTGCCCCAAAGCCTC 0.652000 8 27 0 0 0.007291 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166711 180166711 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr5:180166711C>T uc003mmf.1 - 0 348 c.348G>A c.(346-348)gtG>gtA p.V116V NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA. 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGCCATCACCACCAGGAGCA 0.607000 22 28 0 0 0.005443 0 0 HLA-A 3105 broad.mit.edu 37 6 29912168 29912168 + Silent SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:29912168A>C uc003nol.3 + 3 973 c.889A>C c.(889-891)Aga>Cga p.R297R HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Silent_p.R297R|HLA-A_uc010jrq.3_Silent_p.R176R|HLA-A_uc003nok.3_Silent_p.R176R|HLA-A_uc010klp.2_Silent_p.R269R|HLA-A_uc011dmc.2_Silent_p.R176R|HLA-A_uc011dmd.2_Silent_p.R176R|HLA-A_uc021yub.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA. 297 Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to plasma membrane MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CCTCACCCTGAGATGGGGTAA 0.597000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 56 34 0 0 0.004289 0 0 ABCA12 26154 broad.mit.edu 37 2 215802328 215802328 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:215802328C>T uc002vew.3 - 50 7668 c.7448G>A c.(7447-7449)gGa>gAa p.G2483E ABCA12_uc002vev.3_Missense_Mutation_p.G2165E|ABCA12_uc010zjn.2_Missense_Mutation_p.G1410E NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 2483 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GACAGTAAATCCTCGTCCAAA 0.363000 29 22 0 0 0.002780 0 0 RNF219 79596 broad.mit.edu 37 13 79191232 79191232 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:79191232G>A uc001vkw.1 - 5 723 c.664C>T c.(664-666)Ctt>Ttt p.L222F BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.L32F NM_024546 NP_078822 Q5W0B1 RN219_HUMAN Homo sapiens ring finger protein 219 (RNF219), mRNA. 222 zinc ion binding p.A221fs*6(1) breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) TTGGACTGAAGAGCAGCAACT 0.393000 37 28 0 0 0.009535 0 0 NOS1 4842 broad.mit.edu 37 12 117749355 117749355 + Silent SNP C A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:117749355C>A uc001twn.2 - 2 1479 c.768G>T c.(766-768)gtG>gtT p.V256V NOS1_uc021reo.1_5'Flank|NOS1_uc001twm.2_Silent_p.V256V NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 256 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GGTCGTTCTCCACGCCGAGGG 0.557000 38 24 3.28513e-13 3.49144e-13 0.003954 1 0 FAM113A 64773 broad.mit.edu 37 20 2816191 2816192 + Missense_Mutation DNP GC AA AA rs147076858 TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:2816191_2816192GC>AA uc002wgz.1 - 7 1778_1779 c.1281_1282GC>TT c.(1279-1284)cagcgg>caTTgg p.427_428QR>HW FAM113A_uc010zqa.1_Missense_Mutation_p.274_275QR>HW|FAM113A_uc002whc.1_Missense_Mutation_p.376_377QR>HW NM_022760 NP_073597 Q9H1Q7 F113A_HUMAN Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA. 427 hydrolase activity|protein binding breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4) 17 TGTCTGAGCCGCTGCCTGCAGG 0.624000 30 15 0 0 0.004672 0 0 LCN9 392399 broad.mit.edu 37 9 138557560 138557560 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr9:138557560G>A uc004cgk.1 + 4 437 c.437G>A c.(436-438)gGa>gAa p.G146E NM_001001676 NP_001001676 Q8WX39 LCN9_HUMAN Homo sapiens lipocalin 9 (LCN9), mRNA. 146 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) GAAAAGTACGGACTTGGCTCA 0.567000 16 13 0 0 0.003163 0 0 SOS2 6655 broad.mit.edu 37 14 50605391 50605391 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:50605391G>A uc001wxs.4 - 17 2995 c.2897C>T c.(2896-2898)aCt>aTt p.T966I SOS2_uc010tql.2_Missense_Mutation_p.T933I|SOS2_uc010tqm.1_Non-coding_Transcript NM_006939 NP_008870 Q07890 SOS2_HUMAN Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA. 966 Ras-GEF. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) AATTTCTCCAGTAATTTCAGC 0.328000 31 33 0 0 0.004878 0 0 ATG16L1 55054 broad.mit.edu 37 2 234198983 234198983 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:234198983C>T uc002vty.3 + 13 1671 c.1414C>T c.(1414-1416)Cgt>Tgt p.R472C ATG16L1_uc021vyl.1_Missense_Mutation_p.R356C|ATG16L1_uc002vub.3_Missense_Mutation_p.R330C|ATG16L1_uc002vtz.3_Missense_Mutation_p.R293C|ATG16L1_uc002vud.4_Missense_Mutation_p.R388C|ATG16L1_uc002vua.3_Missense_Mutation_p.R453C|ATG16L1_uc002vtx.2_Missense_Mutation_p.R309C NM_030803 NP_001177196 Q676U5 A16L1_HUMAN Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA. 472 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding p.R472C(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) CAAGAAAATTCGTTTCTGGGA 0.418000 41 21 0 0 0.012319 0 0 LILRB5 10990 broad.mit.edu 37 19 54754901 54754901 + Silent SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:54754901T>C uc010yer.1 - 12 1845 c.1734A>G c.(1732-1734)gcA>gcG p.A578A LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 378 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTCCTCTTCTGCCTGTCTGT 0.587000 15 6 0 0 0.006214 0 0 BRD4 23476 broad.mit.edu 37 19 15366210 15366211 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:15366210_15366211GG>AA uc002nar.3 - 9 2166_2167 c.1944_1945CC>TT c.(1942-1947)aacccc>aaTTcc p.P649S BRD4_uc002nas.3_Missense_Mutation_p.P649S|BRD4_uc002nat.3_Missense_Mutation_p.P649S NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 649 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) ATCTCGTCGGGGTTGGAATTCT 0.574000 T C15orf55 lethal midline carcinoma of young people 32 18 0 0 0.004672 0 0 XIRP2 129446 broad.mit.edu 37 2 167760167 167760167 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:167760167C>T uc002udx.3 + 1 264 c.175C>T c.(175-177)Ccc>Tcc p.P59S XIRP2_uc010fpn.3_Missense_Mutation_p.P59S|XIRP2_uc010fpo.3_Missense_Mutation_p.P59S NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATCTTTGGATCCCACAAGTCT 0.498000 21 14 0 0 0.003163 0 0 PRSS12 8492 broad.mit.edu 37 4 119203249 119203249 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr4:119203249C>T uc003ica.2 - 12 2517 c.2470G>A c.(2470-2472)Gac>Aac p.D824N NM_003619 NP_003610 P56730 NETR_HUMAN Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA. 824 Peptidase S1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 CCTCCGCTGTCTCCCTGGCAG 0.542000 37 29 0 0 0.008361 0 0 INTS1 26173 broad.mit.edu 37 7 1542572 1542572 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:1542572G>A uc003skn.2 - 2 415 c.314C>T c.(313-315)cCg>cTg p.P105L INTS1_uc003skq.2_Missense_Mutation_p.P105L NM_001080453 NP_001073922 Q8N201 INT1_HUMAN Homo sapiens integrator complex subunit 1 (INTS1), mRNA. 105 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TTTAATCGACGGAGAAATGGC 0.577000 79 62 0 0 0.014410 0 0 XDH 7498 broad.mit.edu 37 2 31569699 31569699 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:31569699T>C uc002rnv.1 - 29 3366 c.3287A>G c.(3286-3288)cAg>cGg p.Q1096R NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 1096 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CAAGATGGTCTGACAAGCCGC 0.542000 57 53 0 0 0.014410 0 0 SACS 26278 broad.mit.edu 37 13 23915199 23915199 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr13:23915199G>A uc001uon.2 - 9 3405 c.2816C>T c.(2815-2817)tCc>tTc p.S939F SACS_uc001uoo.2_Missense_Mutation_p.S792F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 939 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGTATAAGAGGAAATTCCCTG 0.363000 39 15 0 0 0.004990 0 0 CCBE1 147372 broad.mit.edu 37 18 57106807 57106807 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr18:57106807G>A uc002lib.3 - 8 989 c.919C>T c.(919-921)Cca>Tca p.P307S CCBE1_uc010dpq.3_Missense_Mutation_p.P36S|CCBE1_uc002lia.3_Missense_Mutation_p.P160S NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 307 Collagen-like 2. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) GCCCCTGGTGGACCCTGTAAT 0.418000 97 85 0 0 0.014410 0 0 AXIN1 8312 broad.mit.edu 37 16 396889 396889 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:396889G>A uc002cgp.2 - 1 526 c.137C>T c.(136-138)tCc>tTc p.S46F AXIN1_uc002cgq.2_Missense_Mutation_p.S46F NM_003502 NP_003493 O15169 AXIN1_HUMAN Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA. 46 Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) ACCTTTCCCGGAGCAGAAACT 0.627000 22 11 0 0 0.013537 0 0 SERPINA13 388007 broad.mit.edu 37 14 95111301 95111301 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:95111301G>A uc001ydt.3 + 3 1121 c.1033G>A c.(1033-1035)Gat>Aat p.D345N Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA. endometrium(1)|large_intestine(1)|lung(9)|skin(1) 12 CAGAGAACTCGATTTCCACTT 0.557000 28 17 0 0 0.012319 0 0 BAGE1 0 broad.mit.edu 37 GL000237.1 2505 2505 + RNA SNP A C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrGL000237.1:2505A>C uc011mgu.1 - 0 c.182T>G Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. ctccagccccaatcctactgc 0.627000 23 4 0 0 0.001168 0 0 GANC 2595 broad.mit.edu 37 15 42632908 42632908 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:42632908C>T uc001zpi.3 + 17 2422 c.2108C>T c.(2107-2109)cCt>cTt p.P703L NM_198141 NP_937784 Q8TET4 GANC_HUMAN Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA. 703 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity p.P703H(2) breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GTAGAGTTCCCTGATGAACTA 0.323000 42 19 0 0 0.012319 0 0 NKAPL 222698 broad.mit.edu 37 6 28228056 28228056 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr6:28228056G>A uc003nkt.3 + 0 959 c.907G>A c.(907-909)Ggt>Agt p.G303S ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN Homo sapiens NFKB activating protein-like (NKAPL), mRNA. 303 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 TTTGCTTCCCGGTGAAGGTGC 0.428000 13 67 0 0 0.014410 0 0 CDK14 5218 broad.mit.edu 37 7 90613509 90613509 + Missense_Mutation SNP T C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:90613509T>C uc003uky.2 + 9 1216 c.994T>C c.(994-996)Ttt>Ctt p.F332L CDK14_uc003ukz.1_Missense_Mutation_p.F314L|CDK14_uc010les.1_Missense_Mutation_p.F286L|CDK14_uc011khl.1_Missense_Mutation_p.F203L NM_012395 NP_036527 O94921 CDK14_HUMAN Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA. 332 Protein kinase. G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 AGTTGCTGCTTTTCCAGGAAT 0.348000 75 58 0 0 0.014410 0 0 TIGIT 201633 broad.mit.edu 37 3 114014634 114014634 + Missense_Mutation SNP G A A rs146935299 by1000genomes TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr3:114014634G>A uc003ebg.2 + 1 1059 c.304G>A c.(304-306)Gat>Aat p.D102N NM_173799 NP_776160 Q495A1 TIGIT_HUMAN Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA. 102 Ig-like V-type. negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding p.D102N(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 GACCGTGAACGATACAGGGGA 0.567000 43 18 0 0 0.012319 0 0 SLC6A17 388662 broad.mit.edu 37 1 110741021 110741021 + Nonsense_Mutation SNP T A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:110741021T>A uc009wfq.3 + 11 2600 c.2139T>A c.(2137-2139)taT>taA p.Y713* NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA. 713 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) ATGGACGCTATGGGAGCGGCT 0.667000 36 46 0 0 0.014410 0 0 SNTG2 54221 broad.mit.edu 37 2 1271289 1271289 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:1271289C>T uc002qwq.3 + 13 1359 c.1230C>T c.(1228-1230)gcC>gcT p.A410A SNTG2_uc010ewi.3_Silent_p.A283A NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 410 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GCGAGCTGGCCATGTGGGAGA 0.532000 29 11 0 0 0.001855 0 0 NPHP4 261734 broad.mit.edu 37 1 6046249 6046249 + Missense_Mutation SNP A T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:6046249A>T uc001alq.2 - 1 369 c.101T>A c.(100-102)gTc>gAc p.V34D NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Intron NM_015102 NP_055917 O75161 NPHP4_HUMAN Homo sapiens nephronophthisis 4 (NPHP4), mRNA. 34 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CCACTTGAGGACACACTGGAA 0.522000 13 8 0 0 0.006214 0 0 MLXIPL 51085 broad.mit.edu 37 7 73009996 73009996 + Missense_Mutation SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:73009996G>A uc003tyn.1 - 14 2329 c.2281C>T c.(2281-2283)Cgt>Tgt p.R761C MLXIPL_uc003tyj.1_Missense_Mutation_p.R140C|MLXIPL_uc003tyk.1_Missense_Mutation_p.R740C|MLXIPL_uc003tym.1_Missense_Mutation_p.R742C|MLXIPL_uc003tyl.1_Missense_Mutation_p.R759C|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.R667C NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 761 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TGCAGCGTACGGGTTCGGACG 0.632000 21 11 0 0 0.001855 0 0 CASS4 57091 broad.mit.edu 37 20 55027196 55027196 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr20:55027196C>T uc002xxp.2 + 5 1189 c.964C>T c.(964-966)Cct>Tct p.P322S CASS4_uc002xxq.4_Missense_Mutation_p.P322S|CASS4_uc010zze.1_Missense_Mutation_p.P268S|CASS4_uc002xxr.2_Missense_Mutation_p.P322S|CASS4_uc010gio.2_Intron NM_001164116 NP_065089 Q9NQ75 CASS4_HUMAN Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA. 322 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 AGGCACATTTCCTTTGGATGA 0.448000 83 30 0 0 0.010818 0 0 STRA6 64220 broad.mit.edu 37 15 74487792 74487792 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:74487792C>T uc002axj.3 - 6 925 c.565G>A c.(565-567)Gga>Aga p.G189R STRA6_uc002axi.3_Intron|STRA6_uc010ulh.2_Missense_Mutation_p.G188R|STRA6_uc002axk.3_Missense_Mutation_p.G150R|STRA6_uc002axl.3_Missense_Mutation_p.G82R|STRA6_uc010bji.3_Missense_Mutation_p.G150R|STRA6_uc021sqg.1_Missense_Mutation_p.G165R|STRA6_uc002axm.3_Missense_Mutation_p.G150R|STRA6_uc002axn.3_Missense_Mutation_p.G141R|STRA6_uc010uli.2_Missense_Mutation_p.G187R|STRA6_uc010bjj.1_Non-coding_Transcript|STRA6_uc010bjk.3_3'UTR NM_001199042 NP_001185971 Q9BX79 STRA6_HUMAN Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA. 150 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 TAGAACAGTCCCAGTATCTTC 0.627000 26 15 0 0 0.003163 0 0 MST4 51765 broad.mit.edu 37 X 131197486 131197486 + Missense_Mutation SNP A G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chrX:131197486A>G uc004ewk.1 + 3 600 c.299A>G c.(298-300)gAa>gGa p.E100G MST4_uc004ewl.1_Missense_Mutation_p.E23G|MST4_uc011mux.1_Missense_Mutation_p.E122G|MST4_uc010nrj.1_Missense_Mutation_p.E100G|MST4_uc004ewm.1_Missense_Mutation_p.E100G NM_016542 NP_057626 Q9P289 MST4_HUMAN Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA. 100 Protein kinase. cellular component disassembly involved in apoptosis|regulation of apoptosis Golgi membrane|cytosol ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity p.E100*(1) endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) ATAATAATGGAATACCTGGGC 0.318000 5 32 0 0 0.005524 0 0 CHFR 55743 broad.mit.edu 37 12 133434019 133434019 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:133434019G>A uc001ulf.2 - 8 1158 c.1074C>T c.(1072-1074)ctC>ctT p.L358L CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Silent_p.L317L|CHFR_uc001ule.2_Silent_p.L346L|CHFR_uc010tbs.1_Silent_p.L358L|CHFR_uc010tbt.1_Silent_p.L266L NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA. 358 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) ATGCTTCCACGAGGTTGTTGA 0.632000 37 22 0 0 0.002780 0 0 CUEDC1 404093 broad.mit.edu 37 17 55962736 55962736 + Missense_Mutation SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:55962736C>T uc002ivd.1 - 1 909 c.190G>A c.(190-192)Gac>Aac p.D64N CUEDC1_uc002ive.1_Missense_Mutation_p.D64N NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN Homo sapiens CUE domain containing 1 (CUEDC1), mRNA. 64 CUE. endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 TCGATGATGTCGTAATCCATG 0.642000 95 5 0 0 0.001168 0 0 ACSM1 116285 broad.mit.edu 37 16 20682984 20682984 + Silent SNP G A A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr16:20682984G>A uc002dhm.1 - 3 689 c.621C>T c.(619-621)tcC>tcT p.S207S ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.S207S NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 207 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TGTGTTCTGGGGATGCTGATC 0.468000 37 32 0 0 0.009718 0 0 OSBPL6 114880 broad.mit.edu 37 2 179238631 179238631 + Silent SNP C T T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:179238631C>T uc002uly.3 + 15 2029 c.1485C>T c.(1483-1485)atC>atT p.I495I OSBPL6_uc002ulw.3_Silent_p.I403I|OSBPL6_uc002ulx.3_Silent_p.I470I|OSBPL6_uc010zfe.2_Silent_p.I439I|OSBPL6_uc002ulz.3_Silent_p.I434I|OSBPL6_uc002uma.3_Silent_p.I474I NM_001201480 NP_001188409 Q9BZF3 OSBL6_HUMAN Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA. 470 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GTGAGCAAATCCATGTCAGTC 0.453000 23 16 0 0 0.006122 0 0 HIPK1 204851 broad.mit.edu 37 1 114495410 114495410 + Frame_Shift_Del DEL T - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:114495410delT uc001eem.3 + 2 1260 c.1099delT c.(1099-1101)ttafs p.L367fs HIPK1_uc001eel.3_Frame_Shift_Del_p.L367fs|HIPK1_uc001een.3_Frame_Shift_Del_p.L367fs|HIPK1_uc001eeo.3_5'UTR|HIPK1_uc001eep.3_5'Flank NM_198268 NP_938010 Q86Z02 HIPK1_HUMAN Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA. 367 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TATTCTTGGGTTACCATTTTG 0.358 --- 47 --- --- 24 --- CSDE1 7812 broad.mit.edu 37 1 115276684 115276687 + Frame_Shift_Del DEL AGTG - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:115276684_115276687delAGTG uc001efi.3 - 8 1294_1297 c.772_775delCACT c.(772-777)cactatfs p.H258fs CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Frame_Shift_Del_p.H212fs|CSDE1_uc001efm.3_Frame_Shift_Del_p.H227fs|CSDE1_uc009wgv.3_Frame_Shift_Del_p.H212fs|CSDE1_uc001efl.3_Frame_Shift_Del_p.H181fs|CSDE1_uc001efn.3_Frame_Shift_Del_p.H181fs NM_001242891 NP_001229820 O75534 CSDE1_HUMAN Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA. 212 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|RNA binding|protein binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AATTCACTATAGTGAAAGAATATC 0.348 --- 32 --- --- 12 --- NR1I3 9970 broad.mit.edu 37 1 161203046 161203058 + Frame_Shift_Del DEL ACTCAGTTGCACA - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:161203046_161203058delACTCAGTTGCACA uc001fzx.3 - 3 512_524 c.309_321delTGTGCAACTGAGT c.(307-321)cctgtgcaactgagtfs p.P103fs TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzm.3_Frame_Shift_Del_p.P28fs|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Frame_Shift_Del_p.P103fs|NR1I3_uc009wug.3_Splice_Site|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzw.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzz.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzh.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001gab.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001gac.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001fzp.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzg.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001gaa.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzj.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001fzi.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001fzl.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001fzk.3_Frame_Shift_Del_p.P74fs|NR1I3_uc010pkm.2_Frame_Shift_Del_p.P74fs|NR1I3_uc010pkn.1_Frame_Shift_Del_p.P103fs NM_001077480 NP_001070948 Q14994 NR1I3_HUMAN Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA. 103 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CTTGCTCCTTACTCAGTTGCACAGGTGTTTGCT 0.577 --- 110 --- --- 40 --- MPZL1 9019 broad.mit.edu 37 1 167741625 167741625 + Frame_Shift_Del DEL T - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:167741625delT uc001geo.3 + 2 574 c.372delT c.(370-372)aatfs p.N124fs MPZL1_uc001gen.4_Frame_Shift_Del_p.N124fs|MPZL1_uc001gep.3_Frame_Shift_Del_p.N124fs|MPZL1_uc001geq.3_Intron|MPZL1_uc009wvh.3_Intron NM_003953 NP_003944 O95297 MPZL1_HUMAN Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA. 124 Ig-like V-type. cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2) 15 all_hematologic(923;0.215) ACATAGAAAATATGCAGTTTA 0.428 --- 78 --- --- 15 --- TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr1:226034840_226034842delCTG uc001hpm.2 - 23 2945_2947 c.2323_2325delCAG c.(2323-2325)cagdel p.Q775del NM_014698 NP_055513 O94886 TM63A_HUMAN Homo sapiens transmembrane protein 63A (TMEM63A), mRNA. 775 integral to membrane|lysosomal membrane nucleotide binding p.Q775delQ(2) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 --- 257 --- --- 8 --- ETAA1 54465 broad.mit.edu 37 2 67631180 67631180 + Frame_Shift_Del DEL T - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr2:67631180delT uc002sdz.1 + 4 1505 c.1366delT c.(1366-1368)ttafs p.L456fs NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA. 456 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TGACAGAGAATTAATAGATGC 0.289 --- 20 --- --- 11 --- KEL 3792 broad.mit.edu 37 7 142655437 142655438 + In_Frame_Ins INS - CAAGTGTAT CAAGTGTAT TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr7:142655437_142655438insCAAGTGTAT uc003wcb.3 - 4 688_689 c.478_479insATACACTTG c.(478-480)gcc>gATACACTTGcc p.159_160insDTL NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 159 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AGCTTCAATGGCAAGTGTATCC 0.480 --- 113 --- --- 16 --- TMEM66 51669 broad.mit.edu 37 8 29923641 29923641 + Frame_Shift_Del DEL A - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr8:29923641delA uc003xhs.3 - 4 1041 c.857delT c.(856-858)ttcfs p.F286fs MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Frame_Shift_Del_p.F114fs NM_016127 NP_057211 Q96BY9 TMM66_HUMAN Homo sapiens transmembrane protein 66 (TMEM66), mRNA. 286 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) CGAGTCTGAGAAGGGTGTTGC 0.463 --- 50 --- --- 28 --- KIF20B 9585 broad.mit.edu 37 10 91497608 91497609 + Frame_Shift_Del DEL AT - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr10:91497608_91497609delAT uc001kgs.1 + 19 3082_3083 c.3010_3011delAT c.(3010-3012)atafs p.I1004fs KIF20B_uc001kgr.1_Frame_Shift_Del_p.I964fs|KIF20B_uc001kgt.1_Frame_Shift_Del_p.I215fs|KIF20B_uc009xtw.1_Non-coding_Transcript NM_016195 NP_057279 Q96Q89 KI20B_HUMAN Homo sapiens kinesin family member 20B (KIF20B), mRNA. 1004 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|WW domain binding|microtubule motor activity p.R1003*(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 GATTTCAAACATAGATTTGCTC 0.332 --- 30 --- --- 23 --- SSH1 54434 broad.mit.edu 37 12 109210894 109210894 + Frame_Shift_Del DEL G - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:109210894delG uc001tnm.3 - 4 408 c.321delC c.(319-321)tacfs p.Y107fs SSH1_uc010sxg.2_Frame_Shift_Del_p.Y118fs|SSH1_uc001tnn.4_Frame_Shift_Del_p.Y107fs|SSH1_uc001tno.1_Frame_Shift_Del_p.Y34fs NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA. 107 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCACCACCATGTACCGGACCC 0.607 --- 71 --- --- 29 --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:113704096_113704098delCTG uc001tux.3 + 4 739_741 c.565_567delCTG c.(565-567)ctgdel p.L194del TPCN1_uc001tuw.3_In_Frame_Del_p.L122del|TPCN1_uc010syt.1_In_Frame_Del_p.L54del NM_001143819 NP_060371 Q9ULQ1 TPC1_HUMAN Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA. 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.R193Q(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 --- 428 --- --- 7 --- CIT 11113 broad.mit.edu 37 12 120156088 120156088 + Frame_Shift_Del DEL G - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr12:120156088delG uc001txj.2 - 31 4186 c.4130delC c.(4129-4131)ccgfs p.P1377fs CIT_uc001txh.2_Frame_Shift_Del_p.P854fs|CIT_uc001txi.2_Frame_Shift_Del_p.P1335fs NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 1335 intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GCTGGATGGCGGGGCCAGCAG 0.577 --- 24 --- --- 14 --- GPR132 29933 broad.mit.edu 37 14 105518091 105518094 + Frame_Shift_Del DEL ACGT - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr14:105518091_105518094delACGT uc001yqd.3 - 3 1279_1282 c.380_383delACGT c.(379-384)tacgtcfs p.Y127fs GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Frame_Shift_Del_p.Y118fs NM_013345 NP_037477 Q9UNW8 GP132_HUMAN Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA. 127 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GAGGATGCTGACGTAGATGTTGCA 0.637 --- 102 --- --- 63 --- HERC2 8924 broad.mit.edu 37 15 28518115 28518115 + Frame_Shift_Del DEL C - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr15:28518115delC uc001zbj.3 - 7 942 c.836delG c.(835-837)ggafs p.G279fs HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 279 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.G279V(2)|p.G279fs*25(2) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGGGATGCTTCCTGGCCCTTT 0.592 --- 59 --- --- 8 --- ZZEF1 23140 broad.mit.edu 37 17 3979949 3979949 + Frame_Shift_Del DEL G - - rs7207986 byFrequency TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:3979949delG uc002fxe.3 - 20 3280 c.3216delC c.(3214-3216)cccfs p.P1072fs ZZEF1_uc002fxk.1_Frame_Shift_Del_p.P1073fs NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 1072 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GTCCTCCTTCGGGGCCACTAC 0.547 --- 9 --- --- 5 --- EFTUD2 9343 broad.mit.edu 37 17 42929896 42929896 + Frame_Shift_Del DEL A - - TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr17:42929896delA uc002ihn.2 - 25 2857 c.2596delT c.(2596-2598)tccfs p.S866fs EFTUD2_uc010wje.1_Frame_Shift_Del_p.S831fs|EFTUD2_uc010wjf.1_Frame_Shift_Del_p.S856fs NM_004247 NP_001136077 Q15029 U5S1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. 866 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TACAGAGGGGAGCCTGGGATG 0.522 --- 44 --- --- 26 --- C19orf29 58509 broad.mit.edu 37 19 3624103 3624104 + Frame_Shift_Ins INS - G G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr19:3624103_3624104insG uc002lyh.3 - 1 277_278 c.224_225insC c.(223-225)ccgfs p.P75fs C19orf29_uc002lyi.4_Frame_Shift_Ins_p.P75fs|C19orf29_uc010dto.3_Non-coding_Transcript NM_001080543 NP_067054 Q8WUQ7 CS029_HUMAN Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA. 75 catalytic step 2 spliceosome protein binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2) 15 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) ACTTGGGCCGCGGGGGGCTCCG 0.673 --- 113 --- --- 58 --- C21orf59 56683 broad.mit.edu 37 21 33949090 33949091 + Frame_Shift_Ins INS - C C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx b25d86f6-cc9e-41c0-90b0-cee878219edb edf0de46-0804-4c09-b470-64311e405bf6 g.chr21:33949090_33949091insC uc002ypw.4 - 4 757_758 c.641_642insG c.(640-642)ggtfs p.G214fs NM_144659 NP_653260 P57076 CU059_HUMAN Homo sapiens t-complex 10 (mouse)-like (TCP10L), mRNA. 0 cytosol|nucleus endometrium(2)|large_intestine(1)|prostate(1)|skin(1) 5 ATCTTCAGACACCCCCCCGTCT 0.480 --- 56 --- --- 44 ---