Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PENK 5179 broad.mit.edu 37 8 57358273 57358273 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:57358273G>A ENST00000518770.1 - 3 393 c.240C>T c.(238-240)ttC>ttT p.F80F PENK_ENST00000523051.1_Intron|PENK_ENST00000314922.3_Intron|PENK_ENST00000451791.2_Intron P01210 PENK_HUMAN proenkephalin 139 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GACCCGGTGCGAACCGCCATA 0.662000 4 27 0 0 1 0 0 ZNF100 163227 broad.mit.edu 37 19 21910398 21910398 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:21910398C>A ENST00000358296.6 - 5 914 c.716G>T c.(715-717)gGc>gTc p.G239V ZNF100_ENST00000305570.6_Missense_Mutation_p.G175V NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 239 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 GAAGGCTTTGCCACAATCTTT 0.353000 20 56 1.15919e-05 1.29086e-05 1 1 0 GRIN2A 2903 broad.mit.edu 37 16 10274061 10274061 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:10274061C>A ENST00000396573.2 - 3 517 c.208G>T c.(208-210)Gta>Tta p.V70L GRIN2A_ENST00000396575.2_Missense_Mutation_p.V70L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V70L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V70L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V70L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 70 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGCAGAGCTACCACGTTCACG 0.657000 43 128 4.14194e-30 7.13798e-30 1 1 0 OR2W3 343171 broad.mit.edu 37 1 248059170 248059170 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:248059170C>A ENST00000537741.1 + 3 539 c.282C>A c.(280-282)taC>taA p.Y94* OR2W3_ENST00000360358.3_Nonsense_Mutation_p.Y94* Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCATCAGCTACATGGGCTGTG 0.562000 88 121 3.71514e-35 6.6318e-35 1 1 0 MUC3A 4584 broad.mit.edu 37 7 100552055 100552055 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:100552055T>A ENST00000319509.7 + 1 806 c.806T>A c.(805-807)aTt>aAt p.I269N mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCACCATACATTTTCAGTACA 0.463000 191 514 0 0 1 0 0 PRRX1 5396 broad.mit.edu 37 1 170695477 170695477 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:170695477C>A ENST00000239461.6 + 3 847 c.534C>A c.(532-534)ccC>ccA p.P178P PRRX1_ENST00000497230.2_Silent_p.P178P|PRRX1_ENST00000367760.3_Silent_p.P178P|PRRX1_ENST00000476867.2_3'UTR NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 178 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGAGCAGCCCATCGTACCTC 0.562000 50 105 6.03219e-31 1.05168e-30 1 1 0 CD300LD 100131439 broad.mit.edu 37 17 72584840 72584840 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:72584840G>A ENST00000375352.1 - 2 269 c.189C>T c.(187-189)atC>atT p.I63I C17orf77_ENST00000392620.1_Intron NM_001115152.1 NP_001108624.1 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d 63 Ig-like V-type. integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 TTTTAACAAGGATGTTACAGT 0.478000 123 155 0 0 1 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212529978 212529978 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:212529978G>T ENST00000261461.2 + 9 1512 c.938G>T c.(937-939)gGa>gTa p.G313V PPP2R5A_ENST00000537030.3_Missense_Mutation_p.G256V NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 313 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) GTGATCAGAGGACTGCTGAAA 0.373000 6 71 0.00307968 0.00319731 1 1 0 SLC6A4 6532 broad.mit.edu 37 17 28539756 28539756 + Splice_Site SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:28539756A>T ENST00000401766.2 - 8 1717 c.e8+1 SLC6A4_ENST00000261707.3_Splice_Site P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CCGAGGTCCTACCTGCGTCTT 0.448000 19 97 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9546387 9546387 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:9546387G>C ENST00000352665.5 + 14 1804 c.1735G>C c.(1735-1737)Gtg>Ctg p.V579L RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.V589L|WDR16_ENST00000396219.3_Missense_Mutation_p.V511L NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 579 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 TGAGGGTGAAGTGACTCACGT 0.433000 28 20 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215953366 215953366 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:215953366G>T ENST00000366943.2 - 55 11144 c.10758C>A c.(10756-10758)acC>acA p.T3586T USH2A_ENST00000307340.3_Silent_p.T3586T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3586 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GAACTCCTTGGGTAGTAGCTG 0.463000 HNSCC(13;0.011) 13 94 4.3838e-07 5.06084e-07 1 1 0 BPTF 2186 broad.mit.edu 37 17 65936752 65936752 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:65936752A>G ENST00000321892.4 + 21 6896 c.6835A>G c.(6835-6837)Act>Gct p.T2279A BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000335221.5_Missense_Mutation_p.T2279A|BPTF_ENST00000424123.3_Missense_Mutation_p.T2140A|BPTF_ENST00000306378.6_Missense_Mutation_p.T2153A Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2279 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GGCTCAACTTACTCAGTTAAC 0.398000 36 39 0 0 1 0 0 TRBV25-1 28562 broad.mit.edu 37 7 142378610 142378610 + RNA SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:142378610T>C ENST00000390398.3 + 0 39 AACTGTGCCATGACTATCAGG 0.478000 12 14 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11426679 11426679 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:11426679C>G ENST00000315872.6 - 3 758 c.310G>C c.(310-312)Ggt>Cgt p.G104R ROCK2_ENST00000462366.1_5'UTR NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 104 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TGCACTTCACCAAAAGCACCT 0.343000 20 115 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89939508 89939508 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:89939508G>T ENST00000389297.4 + 23 3033 c.2782G>T c.(2782-2784)Gca>Tca p.A928S C7orf63_ENST00000497910.1_Missense_Mutation_p.A910S|C7orf63_ENST00000316089.8_Missense_Mutation_p.A882S NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 928 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 GAGGGTGAAAGCAGTTAAAAT 0.388000 28 60 1.17739e-12 1.56463e-12 1 1 0 VN1R4 317703 broad.mit.edu 37 19 53770578 53770578 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:53770578G>T ENST00000311170.4 - 1 394 c.341C>A c.(340-342)tCc>tAc p.S114Y NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 114 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) TGCCCACCTGGATTTCCTGGA 0.493000 HNSCC(26;0.072) 22 30 6.44725e-10 7.93304e-10 1 1 0 SHPRH 257218 broad.mit.edu 37 6 146264551 146264551 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:146264551C>G ENST00000367503.3 - 9 2364 c.1966G>C c.(1966-1968)Gat>Cat p.D656H SHPRH_ENST00000367505.2_Missense_Mutation_p.D656H|SHPRH_ENST00000275233.7_Missense_Mutation_p.D656H|SHPRH_ENST00000438092.2_Missense_Mutation_p.D656H NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 656 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AAGCGGTAATCAGAGGTGTTA 0.423000 38 83 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120744843 120744843 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:120744843C>A ENST00000527524.2 + 10 1262 c.975C>A c.(973-975)agC>agA p.S325R RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.S325R Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 325 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TGAACCGGAGCCAAGAGATCG 0.647000 11 37 9.05144e-12 1.17669e-11 1 1 0 MGAT3 4248 broad.mit.edu 37 22 39884102 39884102 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:39884102G>T ENST00000341184.6 + 2 965 c.750G>T c.(748-750)ccG>ccT p.P250P NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 250 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) AGCCGCGGCCGCTCAAGTTCC 0.637000 16 37 1.3612e-06 1.5564e-06 1 1 0 HMBS 3145 broad.mit.edu 37 11 118963717 118963717 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:118963717C>T ENST00000537841.1 + 13 1138 c.847C>T c.(847-849)Cat>Tat p.H283Y HMBS_ENST00000392841.1_Missense_Mutation_p.H283Y|HMBS_ENST00000278715.3_Missense_Mutation_p.H300Y|HMBS_ENST00000542729.1_Missense_Mutation_p.H243Y|HMBS_ENST00000442944.2_Missense_Mutation_p.H283Y|HMBS_ENST00000544387.1_Missense_Mutation_p.H260Y|HMBS_ENST00000543090.1_Missense_Mutation_p.H269Y P08397 HEM3_HUMAN hydroxymethylbilane synthase 300 peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) GGCTACCATCCATGTCCCTGC 0.517000 16 78 0 0 1 0 0 VEZF1 7716 broad.mit.edu 37 17 56060466 56060466 + Missense_Mutation SNP T T G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:56060466T>G ENST00000584396.1 - 2 383 c.295A>C c.(295-297)Acc>Ccc p.T99P VEZF1_ENST00000581208.1_Missense_Mutation_p.T108P Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 108 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 GTGGTGGGGGTTTTCTTTGGC 0.547000 18 87 0 0 1 0 0 BCL7A 605 broad.mit.edu 37 12 122473321 122473321 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:122473321A>G ENST00000538010.1 + 3 2929 c.259A>G c.(259-261)Atg>Gtg p.M87V BCL7A_ENST00000261822.4_Missense_Mutation_p.M87V NM_020993.3 NP_066273.1 Q4VC05 BCL7A_HUMAN B-cell CLL/lymphoma 7A 87 negative regulation of transcription, DNA-dependent haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231) CCCAGGGATGATGGACATGCA 0.547000 T MYC BNHL 21 45 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10250059 10250059 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:10250059G>T ENST00000418404.3 - 12 1364 c.1201C>A c.(1201-1203)Ctg>Atg p.L401M MYH13_ENST00000252172.4_Missense_Mutation_p.L401M|MYH13_ENST00000570743.1_Missense_Mutation_p.L401M Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 401 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP 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 GGACAGCACAGGCCCTTCAGC 0.453000 20 24 1.36565e-18 2.0519e-18 1 1 0 SCN4A 6329 broad.mit.edu 37 17 62050081 62050081 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:62050081G>C ENST00000578147.1 - 1 197 c.121C>G c.(121-123)Cgg>Ggg p.R41G SCN4A_ENST00000435607.1_Missense_Mutation_p.R41G P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 41 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGCTTATTCCGCTGCAGCCGG 0.642000 9 24 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31302237 31302237 + Silent SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:31302237T>C ENST00000265071.2 + 6 1096 c.831T>C c.(829-831)acT>acC p.T277T CDH6_ENST00000514738.1_Silent_p.T222T NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 277 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 AGTTTAAAACTCCTGAATCTT 0.408000 8 35 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35176789 35176789 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:35176789T>A ENST00000156471.5 - 26 3189 c.2964A>T c.(2962-2964)gaA>gaT p.E988D NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 988 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) CCATGTCTTCTTCATAAGATC 0.383000 11 42 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113196658 113196658 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:113196658G>T ENST00000401783.2 - 30 5353 c.5017C>A c.(5017-5019)Ctg>Atg p.L1673M SVEP1_ENST00000374469.1_Missense_Mutation_p.L1650M NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1673 Sushi 5. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCTTGATTCAGACAGTACTGC 0.443000 4 25 0.000602214 0.000639652 1 1 0 TNRC6B 23112 broad.mit.edu 37 22 40662101 40662101 + Missense_Mutation SNP T T G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:40662101T>G ENST00000454349.2 + 5 2078 c.1867T>G c.(1867-1869)Tgg>Ggg p.W623G TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.W623G NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 623 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 AAACACTGGCTGGGGCCAAAC 0.552000 14 32 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216595395 216595395 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:216595395G>T ENST00000366943.2 - 2 670 c.284C>A c.(283-285)cCt>cAt p.P95H USH2A_ENST00000307340.3_Missense_Mutation_p.P95H|USH2A_ENST00000366942.3_Missense_Mutation_p.P95H O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 95 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGTGTAGGTAGGGTGTGAAGA 0.468000 HNSCC(13;0.011) 76 67 8.07507e-42 1.50433e-41 1 1 0 IGKV2-30 28919 broad.mit.edu 37 2 89544427 89544427 + RNA SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:89544427C>A ENST00000468494.1 - 0 226 TGGAGATTGGCCTGGCCTCTG 0.522000 60 124 2.81305e-35 5.03654e-35 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 18 8 2.94398e-08 3.51398e-08 1 1 0 SORBS3 10174 broad.mit.edu 37 8 22423981 22423981 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:22423981C>T ENST00000240123.7 + 13 1457 c.1074C>T c.(1072-1074)taC>taT p.Y358Y SORBS3_ENST00000428103.1_Silent_p.Y16Y|SORBS3_ENST00000523740.1_3'UTR|RP11-582J16.3_ENST00000517384.1_RNA NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 358 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) ACTTTGTCTACCCTTCCTCAA 0.612000 34 46 0 0 1 0 0 GRWD1 83743 broad.mit.edu 37 19 48953774 48953774 + Missense_Mutation SNP C C T rs147465341 byFrequency TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:48953774C>T ENST00000253237.5 + 4 906 c.673C>T c.(673-675)Cgg>Tgg p.R225W NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 225 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) CTGGTCCCCCCGGGTGACCGG 0.667000 21 50 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37210542 37210542 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:37210542G>T ENST00000585696.1 + 3 2053 c.823G>T c.(823-825)Gag>Tag p.E275* ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Nonsense_Mutation_p.E275*|ZNF567_ENST00000536254.2_Nonsense_Mutation_p.E306*|ZNF567_ENST00000360729.4_Nonsense_Mutation_p.E275*|ZNF567_ENST00000392163.2_Nonsense_Mutation_p.E275* Q8N184 ZN567_HUMAN zinc finger protein 567 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCACACAGGAGAGAAACCCTT 0.418000 13 51 2.27111e-07 2.64226e-07 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55591283 55591283 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:55591283C>A ENST00000373965.2 - 31 4409 c.4015G>T c.(4015-4017)Ggc>Tgc p.G1339C PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1295C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1332C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1337C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1332C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1339C|PCDH15_ENST00000409834.1_Missense_Mutation_p.G943C|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1261C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1332C|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1310C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1332C NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1332 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) AGTAGTTTGCCATCCAAAAAT 0.333000 HNSCC(58;0.16) 19 19 5.03518e-11 6.42013e-11 1 1 0 CYP4F24P 388514 broad.mit.edu 37 19 15880899 15880899 + RNA SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:15880899C>T ENST00000595525.1 + 0 529 CYP4F24P_ENST00000587443.2_RNA AACTCAAACCCACTCTGAATG 0.507000 4 3 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134071984 134071984 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:134071984G>C ENST00000264360.4 + 1 1515 c.689G>C c.(688-690)cGc>cCc p.R230P NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 230 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CAGCAGCAGCGCACCGGCACG 0.657000 17 63 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176740220 176740220 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:176740220A>T ENST00000367662.3 + 17 5783 c.4619A>T c.(4618-4620)cAc>cTc p.H1540L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1540 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTCCTGCCTCACTGCCTCCAG 0.493000 32 124 0 0 1 0 0 SREBF1 6720 broad.mit.edu 37 17 17718180 17718180 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:17718180G>A ENST00000355815.4 - 15 2830 c.2661C>T c.(2659-2661)ttC>ttT p.F887F SREBF1_ENST00000261646.5_Silent_p.F857F|SREBF1_ENST00000395757.1_Silent_p.F603F|SREBF1_ENST00000338854.5_Silent_p.F857F NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 857 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 AACTGATGGAGAAGCTGTAGG 0.637000 3 5 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7613241 7613241 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:7613241G>C ENST00000340080.4 + 4 1556 c.1135G>C c.(1135-1137)Gaa>Caa p.E379Q MIOS_ENST00000405785.1_Missense_Mutation_p.E379Q NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 379 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGAATGTACGGAAGAAGAAAA 0.388000 51 70 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395186 115395186 + Silent SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:115395186C>G ENST00000393780.3 + 3 933 c.465C>G c.(463-465)gcC>gcG p.A155A GAP43_ENST00000305124.6_Silent_p.A119A NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 119 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) GTGATGCTGCCACAGAGCAGG 0.607000 19 38 0 0 1 0 0 FGF3 2248 broad.mit.edu 37 11 69631163 69631163 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:69631163C>A ENST00000334134.2 - 2 339 c.249G>T c.(247-249)gtG>gtT p.V83V NM_005247.2 NP_005238.1 P11487 FGF3_HUMAN fibroblast growth factor 3 83 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 13 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) CCACAATGCCCACCTCCACTG 0.627000 37 70 1.66425e-11 2.14487e-11 1 1 0 PLCD4 84812 broad.mit.edu 37 2 219483388 219483388 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:219483388G>T ENST00000450993.2 + 4 607 c.268G>T c.(268-270)Ggc>Tgc p.G90C PLCD4_ENST00000432688.1_Missense_Mutation_p.G90C|PLCD4_ENST00000417849.1_Missense_Mutation_p.G90C NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 90 PH. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCTGGAGCAGGGCTTCACCAT 0.567000 11 30 0.000978159 0.00102801 1 1 0 DRD1 1812 broad.mit.edu 37 5 174869390 174869390 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:174869390G>T ENST00000393752.2 - 2 1705 c.713C>A c.(712-714)gCc>gAc p.A238D NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 238 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GCAATTCTTGGCGTGGACTGC 0.483000 43 99 3.54909e-21 5.5559e-21 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152651554 152651554 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:152651554C>A ENST00000367255.5 - 78 14867 c.14266G>T c.(14266-14268)Gtc>Ttc p.V4756F SYNE1_ENST00000341594.5_Missense_Mutation_p.V4503F|SYNE1_ENST00000265368.4_Missense_Mutation_p.V4756F|SYNE1_ENST00000423061.1_Missense_Mutation_p.V4685F|SYNE1_ENST00000448038.1_Missense_Mutation_p.V4685F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4756 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATAAGGTGACAAGGTGCAGC 0.512000 HNSCC(10;0.0054) 25 28 3.73808e-20 5.74646e-20 1 1 0 ARMCX2 9823 broad.mit.edu 37 X 100912119 100912119 + Silent SNP T T G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:100912119T>G ENST00000328766.5 - 5 909 c.456A>C c.(454-456)gcA>gcC p.A152A ARMCX2_ENST00000330154.2_Silent_p.A152A|ARMCX2_ENST00000356824.4_Silent_p.A152A NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 152 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 CAGGGGCTTCTGCAGCCCCAA 0.637000 26 30 0 0 1 0 0 GTF2I 2969 broad.mit.edu 37 7 74148302 74148302 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:74148302C>T ENST00000324896.4 + 16 1731 c.1342C>T c.(1342-1344)Ctt>Ttt p.L448F GTF2I_ENST00000416070.1_Missense_Mutation_p.L407F|GTF2I_ENST00000353920.4_Missense_Mutation_p.L428F|GTF2I_ENST00000346152.4_Missense_Mutation_p.L427F NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 448 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 AGATTTACAGCTTGATAAGCC 0.353000 29 123 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133921683 133921683 + Missense_Mutation SNP G G A rs55740278 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:133921683G>A ENST00000427044.2 - 7 713 c.103C>T c.(103-105)Cgt>Tgt p.R35C RYK_ENST00000296084.4_Missense_Mutation_p.R225C P34925 RYK_HUMAN receptor-like tyrosine kinase 224 PALRAAAAPALLLARCAVAAAAGLRAAAR -> RGLRAPPP PPLLLLLALLPLLPAPGAAAAPA (in Ref. 2). corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 TAAAACACACGCGTAGAAGTG 0.343000 7 47 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7773092 7773092 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:7773092C>A ENST00000338316.4 + 18 2351 c.2262C>A c.(2260-2262)ttC>ttA p.F754L ADCY2_ENST00000537121.1_Missense_Mutation_p.F574L NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 754 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GTTCCGTGTTCCTGCGGGTAA 0.502000 66 125 2.05175e-36 3.69563e-36 1 1 0 STX2 2054 broad.mit.edu 37 12 131286002 131286002 + Silent SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:131286002T>C ENST00000261653.6 - 7 661 c.495A>G c.(493-495)gaA>gaG p.E165E STX2_ENST00000392373.2_Silent_p.E165E NM_001980.3 NP_001971.2 P32856 STX2_HUMAN syntaxin 2 165 acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1) 16 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) CCAGCATCTCTTCTAGCTCGT 0.527000 18 73 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63477116 63477116 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:63477116C>A ENST00000536984.2 + 3 1081 c.387C>A c.(385-387)acC>acA p.T129T CDH7_ENST00000323011.3_Silent_p.T129T|CDH7_ENST00000397968.2_Silent_p.T129T Q9ULB5 CADH7_HUMAN cadherin 7, type 2 129 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) ATAGGCTCACCAACAAACCCG 0.502000 38 95 1.69901e-12 2.25279e-12 1 1 0 ABR 29 broad.mit.edu 37 17 960238 960238 + Splice_Site SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:960238C>A ENST00000544583.2 - 13 1947 c.1348_splice c.e13+1 p.D450_splice ABR_ENST00000536794.2_Splice_Site_p.D278_splice|ABR_ENST00000302538.5_Splice_Site_p.D496_splice|ABR_ENST00000291107.2_Splice_Site_p.D459_splice|ABR_ENST00000573895.1_5'UTR|ABR_ENST00000574437.1_Splice_Site_p.D450_splice NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 496 PH. 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 GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CCGAGCTTACCGTCTTTATTG 0.567000 21 106 1.50039e-11 1.93787e-11 1 1 0 ACBD5 91452 broad.mit.edu 37 10 27497247 27497247 + Silent SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:27497247C>G ENST00000396271.3 - 10 1458 c.1332G>C c.(1330-1332)ctG>ctC p.L444L ACBD5_ENST00000375901.1_Silent_p.L335L|ACBD5_ENST00000375905.4_Silent_p.L409L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Silent_p.L267L|ACBD5_ENST00000375888.1_Silent_p.L453L NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 453 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 GCAGTCTCATCAGCACGAGGG 0.562000 45 114 0 0 1 0 0 NFIX 4784 broad.mit.edu 37 19 13192576 13192576 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:13192576G>T ENST00000358552.3 + 6 1035 c.1035G>T c.(1033-1035)ccG>ccT p.P345P NFIX_ENST00000592199.1_Silent_p.P387P|NFIX_ENST00000587760.1_Silent_p.P379P|NFIX_ENST00000360105.4_Silent_p.P349P|NFIX_ENST00000397661.2_Silent_p.P387P|NFIX_ENST00000585575.1_Silent_p.P379P|NFIX_ENST00000587260.1_Silent_p.P386P|NFIX_ENST00000588228.1_Silent_p.P340P Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 387 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) TCACGCACCCGACCATCCGCT 0.642000 27 40 3.65163e-15 5.21163e-15 1 1 0 ZEB1 6935 broad.mit.edu 37 10 31608200 31608200 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:31608200G>T ENST00000361642.5 + 1 100 c.37G>T c.(37-39)Gcg>Tcg p.A13S ZEB1_ENST00000320985.10_Missense_Mutation_p.A13S|ZEB1-AS1_ENST00000423714.1_RNA|ZEB1-AS1_ENST00000606286.1_RNA|ZEB1-AS1_ENST00000605946.1_RNA|ZEB1_ENST00000542815.3_Missense_Mutation_p.A13S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.A13S NM_001174093.1|NM_001174095.1|NM_001174096.1|NM_030751.5 NP_001167564.1|NP_001167566.1|NP_001167567.1|NP_110378.3 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 13 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) CAGAAAGCAGGCGAACCCGCG 0.706000 7 2 0.00448238 0.00463748 1 1 0 SETD4 54093 broad.mit.edu 37 21 37418170 37418170 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr21:37418170C>T ENST00000399215.1 - 5 1808 c.436G>A c.(436-438)Gaa>Aaa p.E146K SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Missense_Mutation_p.E122K|SETD4_ENST00000332131.4_Missense_Mutation_p.E146K|SETD4_ENST00000399207.1_Missense_Mutation_p.E146K|SETD4_ENST00000399205.1_Missense_Mutation_p.E122K|SETD4_ENST00000399208.2_Missense_Mutation_p.E146K|SETD4_ENST00000399201.1_Missense_Mutation_p.E122K Q9NVD3 SETD4_HUMAN SET domain containing 4 146 SET. autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 TTCACCACTTCCGGCTCCAAA 0.473000 51 125 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132195840 132195840 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:132195840G>T ENST00000261674.4 + 1 207 c.66G>T c.(64-66)ggG>ggT p.G22G SFSWAP_ENST00000541286.1_Silent_p.G22G NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 22 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGGAGGCCGGGCCAGGCGGTG 0.701000 23 26 1.66031e-10 2.08585e-10 1 1 0 RAB30 27314 broad.mit.edu 37 11 82693450 82693450 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:82693450C>A ENST00000533486.1 - 6 653 c.369G>T c.(367-369)aaG>aaT p.K123N RAB30_ENST00000527633.1_Missense_Mutation_p.K123N|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000534141.1_Missense_Mutation_p.R122I|RAB30_ENST00000260056.2_Missense_Mutation_p.K123N NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 123 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 CCAGGTCAATCTTGTTGCCTA 0.423000 30 69 4.66903e-05 5.14195e-05 1 1 0 VPS13D 55187 broad.mit.edu 37 1 12294346 12294346 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:12294346G>T ENST00000358136.3 + 2 153 c.23G>T c.(22-24)tGg>tTg p.W8L VPS13D_ENST00000356315.4_Missense_Mutation_p.W8L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 8 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTTGTAGCCTGGGTTCTCAAT 0.393000 22 50 1.64293e-13 2.2329e-13 1 1 0 ADHFE1 137872 broad.mit.edu 37 8 67357514 67357514 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:67357514G>T ENST00000396623.3 + 6 446 c.415G>T c.(415-417)Ggt>Tgt p.G139C ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.G91C|ADHFE1_ENST00000379385.4_Missense_Mutation_p.G139C NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 139 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TGCTGTCGGTGGTGGCTCTAC 0.438000 30 96 7.26314e-15 1.0268e-14 1 1 0 PDIA4 9601 broad.mit.edu 37 7 148702998 148702998 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:148702998A>T ENST00000286091.4 - 8 1511 c.1279T>A c.(1279-1281)Tac>Aac p.Y427N NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 427 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.Y427H(1) large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CCAGCTCTGTAATCAAAGCTG 0.617000 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 33 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47278284 47278284 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:47278284C>A ENST00000271153.4 + 4 520 c.484C>A c.(484-486)Cgt>Agt p.R162S CYP4B1_ENST00000371919.4_Missense_Mutation_p.R147S|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R162S|CYP4B1_ENST00000452782.2_5'UTR P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 162 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) TGAGTCTACACGTATCATGCT 0.567000 34 63 9.80977e-26 1.62951e-25 1 1 0 CUX2 23316 broad.mit.edu 37 12 111701589 111701589 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:111701589C>A ENST00000261726.6 + 4 401 c.247C>A c.(247-249)Cag>Aag p.Q83K CUX2_ENST00000551604.2_3'UTR NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 83 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TAAGAGAAGTCAGGAGGCGGA 0.413000 69 196 1.15074e-40 2.1239e-40 1 1 0 NAP1L5 266812 broad.mit.edu 37 4 89618482 89618482 + Missense_Mutation SNP C C T rs147461195 by1000genomes TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:89618482C>T ENST00000323061.5 - 1 904 c.424G>A c.(424-426)Gag>Aag p.E142K HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) tcgtactcctcttcctcctcc 0.617000 12 57 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92088063 92088063 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:92088063G>A ENST00000298047.6 + 1 2802 c.2785G>A c.(2785-2787)Gtc>Atc p.V929I FAT3_ENST00000541502.1_Missense_Mutation_p.V929I|FAT3_ENST00000409404.2_Missense_Mutation_p.V929I|FAT3_ENST00000525166.1_Missense_Mutation_p.V779I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 929 Cadherin 8. 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) TTTAGATGATGTCAATGACTG 0.433000 TCGA Ovarian(4;0.039) 59 118 0 0 1 0 0 MS4A8 83661 broad.mit.edu 37 11 60482864 60482864 + Missense_Mutation SNP A A C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:60482864A>C ENST00000300226.2 + 7 933 c.730A>C c.(730-732)Agt>Cgt p.S244R NM_031457.1 NP_113645.1 membrane-spanning 4-domains, subfamily A, member 8 AAGTTATTCCAGTGAGATCCA 0.483000 21 21 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431668 56431668 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:56431668T>A ENST00000302969.2 + 1 531 c.507T>A c.(505-507)tgT>tgA p.C169* NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TGAGTTACTGTGGTTCCAATA 0.498000 68 138 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70954616 70954616 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:70954616C>A ENST00000334414.6 - 17 4311 c.4267G>T c.(4267-4269)Gag>Tag p.E1423* PTPRB_ENST00000550857.1_Nonsense_Mutation_p.E1115*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.E1335*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.E1115*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.E1205*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.E1422*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.E1115* NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1205 Fibronectin type-III 16. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGAATCAGCTCATAAAAGTCA 0.502000 32 57 9.65021e-13 1.29101e-12 1 1 0 RXFP3 51289 broad.mit.edu 37 5 33936956 33936956 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:33936956G>A ENST00000330120.3 + 1 466 c.111G>A c.(109-111)acG>acA p.T37T NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 37 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CGGCCAACACGAGTGGTAACG 0.667000 31 102 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611794 84611794 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:84611794C>A ENST00000286744.5 + 19 2674 c.2450C>A c.(2449-2451)aCa>aAa p.T817K ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T817K NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 817 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TGTGCCAGGACAGACTGTCCT 0.517000 10 32 2.27111e-07 2.64226e-07 1 1 0 DRD5 1816 broad.mit.edu 37 4 9784336 9784336 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:9784336C>A ENST00000304374.2 + 1 1079 c.683C>A c.(682-684)tCt>tAt p.S228Y NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 228 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) TACGCCATCTCTTCCTCGCTC 0.572000 23 74 9.57634e-11 1.21071e-10 1 1 0 COL6A2 1292 broad.mit.edu 37 21 47545217 47545217 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr21:47545217G>T ENST00000300527.4 + 24 1912 c.1808G>T c.(1807-1809)gGg>gTg p.G603V COL6A2_ENST00000310645.5_Missense_Mutation_p.G603V|COL6A2_ENST00000409416.1_Missense_Mutation_p.G603V|COL6A2_ENST00000397763.1_Missense_Mutation_p.G603V|COL6A2_ENST00000357838.4_Missense_Mutation_p.G603V NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 603 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) GAGACCTGCGGGTGCTGCGGT 0.677000 51 88 3.68337e-26 6.18724e-26 1 1 0 NETO1 81832 broad.mit.edu 37 18 70532043 70532043 + Splice_Site SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:70532043C>T ENST00000327305.6 - 3 877 c.220_splice c.e3+1 p.A74_splice NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Splice_Site_p.A73_splice|NETO1_ENST00000299430.2_Splice_Site_p.A73_splice|NETO1_ENST00000583169.1_Splice_Site_p.A74_splice NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 74 CUB 1. 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) CTCCCCTTACCTTCTATGATG 0.453000 15 59 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55523570 55523570 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:55523570C>T ENST00000219070.4 + 7 1523 c.1014C>T c.(1012-1014)tcC>tcT p.S338S MMP2_ENST00000437642.2_Silent_p.S288S|MMP2_ENST00000570308.1_Silent_p.S262S|MMP2_ENST00000543485.1_Silent_p.S262S NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 338 Collagen-binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CAGCCATGTCCACTGTTGGTG 0.562000 67 80 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739417 38739417 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:38739417G>T ENST00000449082.2 - 27 5293 c.5294C>A c.(5293-5295)tCg>tAg p.S1765* NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1765 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGCAAAGTCCGAGAGAGCAGA 0.493000 18 100 1.45105e-14 2.04653e-14 1 1 0 MUC16 94025 broad.mit.edu 37 19 9009642 9009642 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:9009642C>A ENST00000397910.4 - 39 39287 c.39084G>T c.(39082-39084)atG>atT p.M13028I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13030 SEA 7. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGGGTGACGCATGTCCTCCC 0.552000 50 129 6.31075e-24 1.02272e-23 1 1 0 GABRB3 2562 broad.mit.edu 37 15 27017828 27017828 + Splice_Site SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:27017828C>A ENST00000541819.2 - 3 442 c.340_splice c.e3+1 p.G114_splice GABRB3_ENST00000299267.4_Splice_Site_p.G58_splice|GABRB3_ENST00000311550.5_Splice_Site_p.G58_splice|GABRB3_ENST00000557641.1_5'UTR P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 58 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCCCACTTACCCCCGAAGTCG 0.687000 3 8 0.004672 0.00481699 1 1 0 MIB2 142678 broad.mit.edu 37 1 1562683 1562683 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:1562683C>T ENST00000357210.4 + 12 1772 c.1556C>T c.(1555-1557)aCc>aTc p.T519I MIB2_ENST00000378708.1_Missense_Mutation_p.T425I|MIB2_ENST00000505820.2_Missense_Mutation_p.T576I|MIB2_ENST00000504599.1_Missense_Mutation_p.T475I|MIB2_ENST00000520777.1_Missense_Mutation_p.T572I|MIB2_ENST00000518681.1_Missense_Mutation_p.T511I|MIB2_ENST00000378712.1_Missense_Mutation_p.T396I|MIB2_ENST00000360522.4_Missense_Mutation_p.T484I|MIB2_ENST00000355826.5_Missense_Mutation_p.T562I|MIB2_ENST00000378710.3_Missense_Mutation_p.T483I NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 519 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 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)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CAGGTGGACACCAAGAACCAA 0.647000 14 35 0 0 1 0 0 PRRC1 133619 broad.mit.edu 37 5 126860299 126860299 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:126860299G>C ENST00000442138.2 + 3 326 c.180G>C c.(178-180)caG>caC p.Q60H PRRC1_ENST00000296666.8_Missense_Mutation_p.Q60H|PRRC1_ENST00000512635.2_Missense_Mutation_p.Q60H Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 60 Pro-rich. Golgi apparatus endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) CTACTCCTCAGCCGCCCCTTC 0.507000 101 190 0 0 1 0 0 SLC20A2 6575 broad.mit.edu 37 8 42296978 42296978 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:42296978C>A ENST00000342228.3 - 7 1293 c.924G>T c.(922-924)cgG>cgT p.R308R SLC20A2_ENST00000520262.1_Silent_p.R308R|SLC20A2_ENST00000520179.1_Silent_p.R308R NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 308 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) CGTATGCAGCCCGAGGGTGGC 0.627000 25 54 0.000586117 0.000628133 1 1 0 OR52K1 390036 broad.mit.edu 37 11 4510466 4510466 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:4510466G>T ENST00000307632.3 + 1 358 c.336G>T c.(334-336)atG>atT p.M112I NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) TCTCCATCATGGAGTCAGCAG 0.532000 27 43 6.32553e-13 8.50038e-13 1 1 0 OR7D4 125958 broad.mit.edu 37 19 9325407 9325407 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:9325407A>G ENST00000308682.2 - 1 135 c.107T>C c.(106-108)cTg>cCg p.L36P NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 CACCGTGACCAGGTACATGGA 0.522000 52 78 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47389304 47389304 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:47389304G>A ENST00000426342.1 - 10 2001 c.1255C>T c.(1255-1257)Cac>Tac p.H419Y MDGA2_ENST00000439988.2_Missense_Mutation_p.H648Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.H419Y|MDGA2_ENST00000399232.2_Missense_Mutation_p.H717Y NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 648 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TAAACACGGTGTCTGTTCTGC 0.418000 34 69 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248813812 248813812 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:248813812G>A ENST00000344889.3 - 1 373 c.374C>T c.(373-375)gCc>gTc p.A125V NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTTGCAGATGGCTACGTAGCG 0.532000 15 198 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79181278 79181278 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:79181278C>T ENST00000554719.1 + 5 1212 c.721C>T c.(721-723)Cta>Tta p.L241L NRXN3_ENST00000335750.5_Silent_p.L241L NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CATCCGCGACCTATTCATTGA 0.582000 25 37 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54542613 54542613 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:54542613A>T ENST00000545554.1 + 7 3419 c.3419A>T c.(3418-3420)cAg>cTg p.Q1140L UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1138L|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1140L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1140 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAAAAGTGTCAGGACCTGCTA 0.488000 9 35 0 0 1 0 0 NAGK 55577 broad.mit.edu 37 2 71303805 71303805 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:71303805G>A ENST00000418807.3 + 7 750 c.586G>A c.(586-588)Gta>Ata p.V196I NAGK_ENST00000455662.2_Missense_Mutation_p.V293I|NAGK_ENST00000244204.5_Missense_Mutation_p.V247I Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase 247 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) CAGACACATCGTAGCAGTGTT 0.587000 3 25 0 0 1 0 0 SPRED3 399473 broad.mit.edu 37 19 38886192 38886192 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:38886192G>T ENST00000587013.1 + 5 850 c.772G>T c.(772-774)Ggg>Tgg p.G258W SPRED3_ENST00000586301.1_Missense_Mutation_p.G214W|SPRED3_ENST00000338502.4_Missense_Mutation_p.G214W Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 214 Pro-rich. multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGGGGCCTGGGGTGGGGCGG 0.701000 5 9 1.23904e-05 1.37467e-05 1 1 0 MBD5 55777 broad.mit.edu 37 2 149227562 149227562 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:149227562G>T ENST00000407073.1 + 9 3047 c.2050G>T c.(2050-2052)Gga>Tga p.G684* MBD5_ENST00000404807.1_Nonsense_Mutation_p.G684* NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 684 chromosome|nucleus chromatin binding|DNA 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) TCCTAAACCTGGACCTGACTT 0.443000 43 63 1.59932e-28 2.72477e-28 1 1 0 MSH3 4437 broad.mit.edu 37 5 79950566 79950566 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:79950566C>A ENST00000265081.6 + 1 100 c.20C>A c.(19-21)gCg>gAg p.A7E DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 7 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CGGAAGCCTGCGTCGGGCGGC 0.701000 Mismatch excision repair (MMR) 15 17 3.45872e-05 3.81608e-05 1 1 0 HRH2 3274 broad.mit.edu 37 5 175110441 175110441 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:175110441C>A ENST00000231683.2 + 1 1978 c.205C>A c.(205-207)Ctc>Atc p.L69I HRH2_ENST00000377291.2_Missense_Mutation_p.L69I NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 69 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) GCTCCTCGGCCTCCTGGTGCT 0.567000 46 75 2.24722e-20 3.4635e-20 1 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125686544 125686544 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:125686544G>T ENST00000371126.1 - 1 290 c.48C>A c.(46-48)gtC>gtA p.V16V NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 16 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CGTCCGCCTCGACCGCGGGCG 0.726000 20 30 7.41877e-09 8.9633e-09 1 1 0 SCN3A 6328 broad.mit.edu 37 2 165956856 165956856 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:165956856C>A ENST00000360093.3 - 22 4413 c.3922G>T c.(3922-3924)Gct>Tct p.A1308S SCN3A_ENST00000409101.3_Missense_Mutation_p.A1259S|SCN3A_ENST00000283254.7_Missense_Mutation_p.A1308S NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1308 voltage-gated sodium channel complex voltage-gated sodium channel activity p.A1259T(1)|p.A1308T(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GGTCTTAAAGCTCTTAATGTC 0.378000 14 60 1.15088e-07 1.35477e-07 1 1 0 PXK 54899 broad.mit.edu 37 3 58385031 58385031 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:58385031G>T ENST00000463280.1 + 10 1100 c.1009G>T c.(1009-1011)Gtg>Ttg p.V337L PXK_ENST00000383715.4_Missense_Mutation_p.V353L|PXK_ENST00000484288.1_Missense_Mutation_p.V370L|PXK_ENST00000302779.5_Missense_Mutation_p.V353L|PXK_ENST00000356151.2_Missense_Mutation_p.V370L|PXK_ENST00000479241.1_Missense_Mutation_p.V353L|PXK_ENST00000536660.1_Missense_Mutation_p.V233L|PXK_ENST00000383716.3_Missense_Mutation_p.V337L Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 370 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) TCAAGTGGCCGTGTTGGAGTC 0.438000 12 27 4.3838e-07 5.06084e-07 1 1 0 ANKS3 124401 broad.mit.edu 37 16 4776715 4776715 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:4776715C>A ENST00000304283.4 - 5 730 c.436G>T c.(436-438)Ggg>Tgg p.G146W ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000446014.2_Missense_Mutation_p.G17W|ANKS3_ENST00000585773.1_Missense_Mutation_p.G73W|ANKS3_ENST00000592711.1_Intron NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 146 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 TGCTGGTGCCCGGCGCTGGTA 0.557000 39 66 8.69298e-16 1.25565e-15 1 1 0 RPS5 6193 broad.mit.edu 37 19 58904406 58904406 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:58904406G>A ENST00000596046.1 + 2 1021 c.172G>A c.(172-174)Gcc>Acc p.A58T RPS5_ENST00000598495.1_Missense_Mutation_p.A79T|RPS5_ENST00000601521.1_Missense_Mutation_p.A58T|RPS5_ENST00000196551.3_Missense_Mutation_p.A58T|RPS5_ENST00000598098.1_Intron P46782 RS5_HUMAN ribosomal protein S5 58 endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|structural constituent of ribosome cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176) GCGGTATGCCGCCAAACGCTT 0.552000 19 19 0 0 1 0 0 PDP1 54704 broad.mit.edu 37 8 94935532 94935532 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:94935532G>T ENST00000396200.3 + 3 1596 c.1320G>T c.(1318-1320)ttG>ttT p.L440F PDP1_ENST00000520728.1_Missense_Mutation_p.L415F|PDP1_ENST00000517764.1_Missense_Mutation_p.L415F|PDP1_ENST00000297598.4_Missense_Mutation_p.L415F NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 415 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 TTCTGGTGTTGGCTACTGATG 0.473000 65 78 3.8128e-34 6.76574e-34 1 1 0 PCTP 58488 broad.mit.edu 37 17 53852152 53852152 + Splice_Site SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:53852152G>T ENST00000576183.1 + 5 554 c.e5-1 PCTP_ENST00000325214.6_Splice_Site|PCTP_ENST00000573500.1_Splice_Site|PCTP_ENST00000268896.5_Splice_Site|PCTP_ENST00000576221.1_Splice_Site Q9UKL6 PPCT_HUMAN phosphatidylcholine transfer protein cytosol phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(1;0.00207) TCCCTCTCTAGTTTTCATGTA 0.448000 25 54 7.41945e-09 8.9633e-09 1 1 0 LAMC2 3918 broad.mit.edu 37 1 183195900 183195900 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:183195900G>T ENST00000264144.4 + 9 1199 c.1134G>T c.(1132-1134)tgG>tgT p.W378C LAMC2_ENST00000493293.1_Missense_Mutation_p.W378C NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 378 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 CAGCACCCTGGGTTGAACAGT 0.522000 134 256 4.18689e-49 7.8983e-49 1 1 0 CYP2D7 1564 broad.mit.edu 37 22 42537649 42537649 + RNA SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:42537649T>A ENST00000435101.1 - 0 93 CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 ATGCGCAGGTTCTCATCATTG 0.587000 5 16 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88729810 88729810 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:88729810C>A ENST00000340700.5 - 2 574 c.123G>T c.(121-123)ccG>ccT p.P41P KCNK10_ENST00000312350.5_Silent_p.P46P|KCNK10_ENST00000319231.5_Silent_p.P46P NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 41 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TGGACAGGCGCGGAGTTGGAG 0.652000 49 75 2.55665e-31 4.47039e-31 1 1 0 DMGDH 29958 broad.mit.edu 37 5 78351669 78351669 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:78351669G>A ENST00000255189.3 - 3 367 c.339C>T c.(337-339)atC>atT p.I113I DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 113 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CATAAAGTTTGATGCTATCAT 0.333000 9 31 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101648225 101648225 + Silent SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:101648225A>G ENST00000311812.2 - 3 306 c.156T>C c.(154-156)ttT>ttC p.F52F NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 52 PX. cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) GGCAATTTCCAAAGACCCGCC 0.483000 18 24 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382687 22382687 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:22382687C>G ENST00000328795.4 + 1 306 c.215C>G c.(214-216)tCc>tGc p.S72C RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTGGATGCATCCTACTCCTTC 0.483000 31 270 0 0 1 0 0 PRSS21 10942 broad.mit.edu 37 16 2870974 2870974 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:2870974C>A ENST00000455114.1 + 5 669 c.563C>A c.(562-564)aCc>aAc p.T188N PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Missense_Mutation_p.T190N|PRSS21_ENST00000005995.3_Missense_Mutation_p.T190N NM_001270452.1|NM_006799.3|NM_144956.2 NP_001257381.1|NP_006790.1|NP_659205.1 Q9Y6M0 TEST_HUMAN protease, serine, 21 (testisin) 190 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 15 TCTCCCCACACCCTCCAGGAA 0.552000 63 393 1.3268e-25 2.18575e-25 1 1 0 OR5L2 26338 broad.mit.edu 37 11 55594991 55594991 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:55594991G>A ENST00000378397.1 + 1 297 c.297G>A c.(295-297)gtG>gtA p.V99V NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) GGTGCATGGTGCAATTCTACT 0.468000 HNSCC(27;0.073) 39 125 0 0 1 0 0 HOXC9 3225 broad.mit.edu 37 12 54394247 54394247 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:54394247A>T ENST00000303450.4 + 1 345 c.275A>T c.(274-276)tAc>tTc p.Y92F HOXC9_ENST00000508190.1_Missense_Mutation_p.Y92F|HOXC9_ENST00000504557.1_Intron NM_006897.1 NP_008828.1 P31274 HXC9_HUMAN homeobox C9 92 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 GACACGCGCTACATGCGGACT 0.721000 15 31 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132437876 132437876 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:132437876C>A ENST00000326682.8 - 3 708 c.632G>T c.(631-633)gGg>gTg p.G211V NPHP3_ENST00000337331.5_Missense_Mutation_p.G211V|NPHP3_ENST00000343113.4_Missense_Mutation_p.G211V Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 211 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ATCAGACTCCCCAGGATCAAA 0.423000 40 75 8.16277e-20 1.24842e-19 1 1 0 CCKAR 886 broad.mit.edu 37 4 26487330 26487330 + Silent SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:26487330A>G ENST00000295589.3 - 3 749 c.555T>C c.(553-555)ttT>ttC p.F185F NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 185 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) TATTTTTGGTAAAAGGCACCA 0.423000 27 32 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50280515 50280515 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:50280515G>T ENST00000404971.1 - 22 5481 c.4142C>A c.(4141-4143)aCt>aAt p.T1381N NRXN1_ENST00000402717.3_Missense_Mutation_p.T1333N|NRXN1_ENST00000401710.1_Missense_Mutation_p.T329N|NRXN1_ENST00000406316.2_Missense_Mutation_p.T1311N|NRXN1_ENST00000401669.2_Missense_Mutation_p.T1341N|NRXN1_ENST00000405472.3_Missense_Mutation_p.T1333N|NRXN1_ENST00000342183.5_Missense_Mutation_p.T276N|NRXN1_ENST00000406859.3_Missense_Mutation_p.T1311N NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1311 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) TTGCATGGCAGTGGCTGTTGA 0.498000 50 107 8.72198e-27 1.46922e-26 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55600186 55600186 + Silent SNP G G T rs142034111 byFrequency TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:55600186G>T ENST00000373965.2 - 30 4292 c.3898C>A c.(3898-3900)Cgg>Agg p.R1300R PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.R1256R|PCDH15_ENST00000395430.1_Silent_p.R1293R|PCDH15_ENST00000414778.1_Silent_p.R1298R|PCDH15_ENST00000395438.1_Silent_p.R1293R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.R1300R|PCDH15_ENST00000409834.1_Silent_p.R904R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Silent_p.R1222R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.R1293R|PCDH15_ENST00000395433.1_Silent_p.R1271R|PCDH15_ENST00000361849.3_Silent_p.R1293R NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1293 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.R1293W(1)|p.R1298W(1) 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) TCTCCATGCCGGCGAGCTCCA 0.448000 HNSCC(58;0.16) 41 33 3.09479e-21 4.85743e-21 1 1 0 DSG3 1830 broad.mit.edu 37 18 29046556 29046556 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:29046556G>C ENST00000257189.4 + 11 1558 c.1475G>C c.(1474-1476)tGt>tCt p.C492S NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 492 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AATGACAATTGTCCAACAGCT 0.398000 79 147 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039369 11039369 + RNA SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr21:11039369G>T ENST00000470054.1 - 0 834 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CACTTCAGAAGACATTTTCAT 0.348000 15 338 7.93312e-07 9.08813e-07 1 1 0 MIR412 574433 broad.mit.edu 37 14 101531849 101531849 + RNA SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:101531849C>T ENST00000362142.2 + 0 66 NR_030155.1 TTCACCTGGTCCACTAGCCGT 0.602000 40 119 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142460755 142460755 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:142460755C>A ENST00000486171.1 + 6 687 c.670C>A c.(670-672)Ctc>Atc p.L224I PRSS1_ENST00000311737.7_Missense_Mutation_p.L210I P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 210 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CAATGGACAGCTCCAAGGAGT 0.498000 20 114 1.96292e-10 2.45571e-10 1 1 0 SLC6A17 388662 broad.mit.edu 37 1 110709731 110709731 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:110709731G>T ENST00000331565.4 + 2 665 c.180G>T c.(178-180)cgG>cgT p.R60R RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 60 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) CAGAGGACCGGCCGGCCTGGA 0.587000 10 9 4.68919e-08 5.57482e-08 1 1 0 HELB 92797 broad.mit.edu 37 12 66703641 66703641 + Silent SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:66703641A>G ENST00000247815.4 + 4 992 c.933A>G c.(931-933)acA>acG p.T311T NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 311 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) ATGGGCACACATATGTTGAAG 0.383000 95 210 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43679537 43679537 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:43679537G>C ENST00000404580.1 - 4 882 c.794C>G c.(793-795)tCt>tGt p.S265C PSG5_ENST00000407356.1_Missense_Mutation_p.S265C|PSG5_ENST00000342951.6_Missense_Mutation_p.S265C|PSG5_ENST00000599812.1_Missense_Mutation_p.S358C|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Missense_Mutation_p.S265C Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 265 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) CGGTGGGTTAGATTCCGCGAA 0.458000 132 244 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325633 31325633 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:31325633C>A ENST00000269197.5 + 12 5821 c.5821C>A c.(5821-5823)Ccc>Acc p.P1941T NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1941 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGCCAGGGGCCCCATTCCTAC 0.522000 34 59 9.65021e-13 1.29101e-12 1 1 0 ZNF644 84146 broad.mit.edu 37 1 91405265 91405265 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:91405265C>A ENST00000370440.1 - 3 1863 c.1646G>T c.(1645-1647)gGg>gTg p.G549V ZNF644_ENST00000337393.5_Missense_Mutation_p.G549V|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 549 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) TACCACTGCCCCATGTGCAAT 0.393000 54 37 7.34454e-26 1.23026e-25 1 1 0 MIOS 54468 broad.mit.edu 37 7 7613240 7613240 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:7613240G>T ENST00000340080.4 + 4 1555 c.1134G>T c.(1132-1134)acG>acT p.T378T MIOS_ENST00000405785.1_Silent_p.T378T NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 378 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ATGAATGTACGGAAGAAGAAA 0.393000 52 70 8.04919e-23 1.28701e-22 1 1 0 CYP2B7P 1556 broad.mit.edu 37 19 41444902 41444902 + RNA SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:41444902C>G ENST00000599198.1 + 0 567 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 CCTTCCTCTTCCATTCCATTA 0.517000 4 19 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 54095673 54095673 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:54095673G>A ENST00000502396.1 + 12 2912 c.2880G>A c.(2878-2880)caG>caA p.Q960Q MLIP_ENST00000274897.5_Silent_p.Q425Q|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000358276.5_Intron Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 425 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 GTGATGAACAGGAGAATTCTC 0.498000 52 156 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184571 130184571 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:130184571C>A ENST00000422113.2 - 2 1078 c.752G>T c.(751-753)cGg>cTg p.R251L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 251 integral to membrane p.R251L(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTGGCCTGTCCGGATCCCATT 0.617000 57 58 3.76997e-23 6.06032e-23 1 1 0 ZNF521 25925 broad.mit.edu 37 18 22807168 22807168 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:22807168C>G ENST00000361524.3 - 4 862 c.714G>C c.(712-714)gaG>gaC p.E238D ZNF521_ENST00000584787.1_Missense_Mutation_p.E18D|ZNF521_ENST00000538137.2_Missense_Mutation_p.E238D NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 238 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCTTCCAGTCCTCCATCCTGG 0.527000 T PAX5 ALL 35 66 0 0 1 0 0 FAM124B 79843 broad.mit.edu 37 2 225266225 225266225 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:225266225G>T ENST00000389874.3 - 1 486 c.261C>A c.(259-261)gaC>gaA p.D87E FAM124B_ENST00000243806.2_Missense_Mutation_p.D87E|FAM124B_ENST00000409685.3_Missense_Mutation_p.D87E NM_024785.2 NP_079061.2 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B 87 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) GCTGGAGAGAGTCCAGGACGC 0.567000 7 52 0.00198382 0.00207037 1 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102510336 102510336 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:102510336G>T ENST00000360184.4 + 70 12802 c.12638G>T c.(12637-12639)cGg>cTg p.R4213L RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4213 AAA 6 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding p.R4213Q(1) 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 TCTGACCTGCGGTCAGCTTGC 0.547000 18 66 1.67942e-08 2.01665e-08 1 1 0 UNC13C 440279 broad.mit.edu 37 15 54685273 54685273 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:54685273G>T ENST00000545554.1 + 17 4741 c.4741G>T c.(4741-4743)Gat>Tat p.D1581Y UNC13C_ENST00000537900.1_Missense_Mutation_p.D1579Y|UNC13C_ENST00000260323.11_Missense_Mutation_p.D1581Y Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1581 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TCCTCGTGAAGATCAGGGACC 0.398000 25 41 9.90768e-06 1.10951e-05 1 1 0 ZNF106 64397 broad.mit.edu 37 15 42734441 42734441 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:42734441G>T ENST00000263805.4 - 7 3850 c.3524C>A c.(3523-3525)tCt>tAt p.S1175Y ZNF106_ENST00000565611.1_Missense_Mutation_p.S360Y|ZNF106_ENST00000565380.1_Missense_Mutation_p.S403Y NM_022473.1 NP_071918.1 zinc finger protein 106 TATTTGAAGAGAGGCTCCGGT 0.502000 24 65 2.21704e-12 2.92668e-12 1 1 0 DPY19L3 147991 broad.mit.edu 37 19 32928131 32928131 + Missense_Mutation SNP A A C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:32928131A>C ENST00000342179.5 + 6 697 c.482A>C c.(481-483)tAc>tCc p.Y161S DPY19L3_ENST00000586987.1_Missense_Mutation_p.Y161S|DPY19L3_ENST00000392250.2_Missense_Mutation_p.Y161S NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 161 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) TTTTATATTTACACCTTATTT 0.423000 18 75 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216152 20216152 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:20216152C>T ENST00000331723.1 + 1 566 c.566C>T c.(565-567)gCc>gTc p.A189V NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A189V(1) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCAAGCTGGCCTGCATGGAC 0.483000 25 51 0 0 1 0 0 DEFB127 140850 broad.mit.edu 37 20 139530 139530 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:139530C>T ENST00000382388.3 + 2 240 c.165C>T c.(163-165)ctC>ctT p.L55L NM_139074.3 NP_620713.1 Q9H1M4 DB127_HUMAN defensin, beta 127 55 defense response to bacterium|innate immune response extracellular region NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) ACTGTTGCCTCAATATCAAGG 0.403000 34 59 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661327 22661327 + RNA SNP C C T rs71316745 by1000genomes TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:22661327C>T ENST00000426066.1 + 0 360 NR_027293.1 CTTTGACCCCCGTTACCCCAT 0.502000 4 48 0 0 1 0 0 AMER2 219287 broad.mit.edu 37 13 25743872 25743872 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr13:25743872G>T ENST00000357816.2 - 3 2004 c.1529C>A c.(1528-1530)cCc>cAc p.P510H AMER2_ENST00000515384.1_Missense_Mutation_p.P629H|AMER2_ENST00000381853.3_Missense_Mutation_p.P510H APC membrane recruitment protein 2 ACTCCTGGAGGGTTGCTGGTG 0.562000 47 68 1.19451e-25 1.97326e-25 1 1 0 PPARGC1A 10891 broad.mit.edu 37 4 23830043 23830043 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:23830043G>T ENST00000264867.2 - 5 856 c.737C>A c.(736-738)tCg>tAg p.S246* PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 246 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TTGTGACTGCGACTGTGTGTG 0.493000 52 61 1.54886e-18 2.32135e-18 1 1 0 MMP26 56547 broad.mit.edu 37 11 5012688 5012688 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:5012688A>G ENST00000380390.1 + 5 773 c.557A>G c.(556-558)cAt>cGt p.H186R MMP26_ENST00000300762.1_Missense_Mutation_p.H186R Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 186 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) GGAGTTGTCCATTTTGACAAG 0.488000 97 164 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41736141 41736141 + Splice_Site SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:41736141G>A ENST00000352645.4 + 10 1395 c.1138_splice c.e10+1 p.E380_splice ZC3H7B_ENST00000351589.4_Splice_Site_p.E380_splice NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 396 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTCCTTCATGGGTAAGGCCAT 0.597000 9 16 0 0 1 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967770 58967770 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:58967770G>A ENST00000391696.1 + 3 2361 c.1429G>A c.(1429-1431)Ggc>Agc p.G477S ZNF324B_ENST00000336614.4_Missense_Mutation_p.G487S|ZNF324B_ENST00000545523.1_Missense_Mutation_p.G487S Q6AW86 Z324B_HUMAN zinc finger protein 324B 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CACGCAGTGTGGCCGCGCCTT 0.677000 15 84 0 0 1 0 0 CYP24A1 1591 broad.mit.edu 37 20 52786159 52786159 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:52786159G>T ENST00000216862.3 - 4 1005 c.612C>A c.(610-612)taC>taA p.Y204* CYP24A1_ENST00000395954.3_Nonsense_Mutation_p.Y62*|CYP24A1_ENST00000395955.3_Nonsense_Mutation_p.Y204* NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 204 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TCAGTTCGCTGTACAAGTCTT 0.418000 32 76 1.74807e-11 2.24805e-11 1 1 0 OR2T34 127068 broad.mit.edu 37 1 248737432 248737432 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:248737432G>A ENST00000328782.2 - 1 648 c.627C>T c.(625-627)atC>atT p.I209I NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 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) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAAGCATGAGGATGCAGCACA 0.537000 128 554 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768900 140768900 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:140768900C>A ENST00000519479.1 + 1 1449 c.1449C>A c.(1447-1449)ggC>ggA p.G483G PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCCAACGGCCAAGTCTCTT 0.592000 21 132 3.62473e-10 4.49707e-10 1 1 0 GLRA2 2742 broad.mit.edu 37 X 14625361 14625361 + Missense_Mutation SNP T T G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:14625361T>G ENST00000218075.4 + 6 1216 c.686T>G c.(685-687)cTt>cGt p.L229R GLRA2_ENST00000355020.4_Missense_Mutation_p.L229R|GLRA2_ENST00000443437.2_Missense_Mutation_p.L140R NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 229 neuropeptide signaling pathway 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 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) GAGAAGGAACTTGGCTACTGT 0.393000 35 92 0 0 1 0 0 R3HDML 140902 broad.mit.edu 37 20 42973947 42973947 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:42973947C>A ENST00000217043.2 + 4 730 c.558C>A c.(556-558)acC>acA p.T186T NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 186 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CCATCCACACCTGTAGTAGCA 0.582000 55 116 1.08141e-31 1.89642e-31 1 1 0 MYH4 4622 broad.mit.edu 37 17 10351409 10351409 + Missense_Mutation SNP C C T rs141756717 by1000genomes TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:10351409C>T ENST00000255381.2 - 34 4801 c.4691G>A c.(4690-4692)cGc>cAc p.R1564H CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1564 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AAGTTGAATGCGAAGAATTTT 0.338000 41 47 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206364714 206364714 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:206364714G>T ENST00000406610.2 + 21 3346 c.3139G>T c.(3139-3141)Gac>Tac p.D1047Y PARD3B_ENST00000358768.2_Missense_Mutation_p.D985Y|PARD3B_ENST00000351153.1_Missense_Mutation_p.D978Y|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.D946Y NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 1047 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) ATATGAAGACGACGAAGGAAG 0.468000 55 141 3.81248e-40 6.99344e-40 1 1 0 OR2M3 127062 broad.mit.edu 37 1 248366750 248366750 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:248366750C>T ENST00000456743.1 + 1 419 c.381C>T c.(379-381)tgC>tgT p.C127C NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-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) CTGCCATTTGCCACCCTCTAA 0.448000 65 738 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168112771 168112771 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:168112771G>T ENST00000519560.1 - 31 3895 c.3476C>A c.(3475-3477)aCt>aAt p.T1159N SLIT3_ENST00000404867.3_Missense_Mutation_p.T1159N|SLIT3_ENST00000332966.8_Missense_Mutation_p.T1166N NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1159 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAAGTTGACAGTGATGAGCTT 0.657000 16 36 6.72482e-11 8.55626e-11 1 1 0 MT1H 4496 broad.mit.edu 37 16 56704483 56704483 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:56704483A>T ENST00000569155.1 + 2 139 c.94A>T c.(94-96)Agt>Tgt p.S32C MT1H_ENST00000332374.4_Splice_Site_p.S32_splice P80294 MT1H_HUMAN metallothionein 1H 32 Alpha. metal ion binding|protein binding lung(5) 5 CTGCAAGAAGAGTGAGTGCGG 0.587000 19 32 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181049 19181049 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:19181049G>A ENST00000375371.3 - 3 936 c.915C>T c.(913-915)gcC>gcT p.A305A RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 305 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CCGGGTCGATGGCCCAGGACT 0.632000 7 24 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157557888 157557888 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:157557888G>T ENST00000271532.1 - 4 464 c.329C>A c.(328-330)cCa>cAa p.P110Q FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 110 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CACAGAATATGGTGCCTGCAG 0.403000 17 54 2.5808e-16 3.75503e-16 1 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 85 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606501 55606501 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:55606501A>G ENST00000378396.1 + 1 274 c.274A>G c.(274-276)Aga>Gga p.R92G NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TGTAGAAGATAGAACCATTTC 0.413000 109 221 0 0 1 0 0 LRRC47 57470 broad.mit.edu 37 1 3703673 3703673 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:3703673C>T ENST00000378251.1 - 2 844 c.817G>A c.(817-819)Gag>Aag p.E273K NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 273 translation phenylalanine-tRNA ligase activity|RNA binding p.E273K(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) tccGAGCCCTCGGCACGGCCC 0.672000 14 52 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538569 27538569 + RNA SNP G G A rs11015624 by1000genomes TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:27538569G>A ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CAGGTCCAAAGGTTGAACTGT 0.478000 10 176 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155115634 155115634 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:155115634C>A ENST00000392825.3 + 8 1525 c.958C>A c.(958-960)Ctt>Att p.L320I GALNT13_ENST00000409237.1_Missense_Mutation_p.L320I|GALNT13_ENST00000487047.1_3'UTR NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 320 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TGGAGAGAATCTTGAAATGTC 0.383000 27 135 2.12542e-12 2.81194e-12 1 1 0 MPP2 4355 broad.mit.edu 37 17 41957272 41957272 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:41957272C>A ENST00000269095.4 - 11 1535 c.1231G>T c.(1231-1233)Gtc>Ttc p.V411F MPP2_ENST00000377184.3_Missense_Mutation_p.V428F|MPP2_ENST00000518766.1_Missense_Mutation_p.V456F|MPP2_ENST00000523501.1_Missense_Mutation_p.V400F|MPP2_ENST00000536246.1_Missense_Mutation_p.V400F|MPP2_ENST00000520305.1_Missense_Mutation_p.V272F|MPP2_ENST00000461854.1_Missense_Mutation_p.V435F NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 435 Guanylate kinase-like. 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) CCAGCACGGACGTCAGCCTCC 0.627000 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 68 9.05144e-12 1.17669e-11 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31324355 31324355 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:31324355G>C ENST00000269197.5 + 12 4543 c.4543G>C c.(4543-4545)Gcg>Ccg p.A1515P NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACAGCCCGTGGCGTGTCCTCA 0.542000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 22 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777895 123777895 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:123777895G>T ENST00000321355.2 + 1 787 c.757G>T c.(757-759)Ggg>Tgg p.G253W NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G253W(1) large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TATGTTTTATGGGTCTCTGAT 0.448000 51 106 2.74695e-27 4.64033e-27 1 1 0 ANKDD1A 348094 broad.mit.edu 37 15 65208028 65208028 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:65208028G>T ENST00000380230.3 + 2 96 c.67G>T c.(67-69)Gcc>Tcc p.A23S ANKDD1A_ENST00000395720.1_Missense_Mutation_p.A23S|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.A23S|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000319580.8_Intron|ANKDD1A_ENST00000496660.1_Intron NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 23 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 CCACGAGGCCGCCCGCCAGAA 0.592000 6 35 0.000157383 0.000170499 1 1 0 FUT9 10690 broad.mit.edu 37 6 96651655 96651655 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:96651655G>A ENST00000302103.5 + 3 950 c.624G>A c.(622-624)gaG>gaA p.E208E NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 208 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ATTACAATGAGCTAAGCAAAA 0.388000 22 15 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21078694 21078694 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:21078694G>A ENST00000261383.3 - 24 3427 c.3428C>T c.(3427-3429)gCa>gTa p.A1143V DNAH3_ENST00000415178.1_Missense_Mutation_p.A1143V NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1143 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AAGCTTCTCTGCCATCCGTGG 0.468000 17 142 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40015368 40015368 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:40015368C>A ENST00000336649.4 + 6 536 c.536C>A c.(535-537)aCc>aAc p.T179N CACNA1I_ENST00000400164.3_Missense_Mutation_p.T179N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.T179N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.T179N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.T179N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.T179N Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 179 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCCATCCGCACCGTGCGCGTC 0.617000 23 66 6.44725e-10 7.93304e-10 1 1 0 OR10X1 128367 broad.mit.edu 37 1 158549135 158549135 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:158549135G>A ENST00000368150.1 - 1 554 c.555C>T c.(553-555)tgC>tgT p.C185C NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) GGTTGGGTCTGCAGAAAGAGT 0.433000 13 127 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76570861 76570861 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:76570861C>A ENST00000389840.5 - 2 403 c.279G>T c.(277-279)agG>agT p.R93S DNAH17_ENST00000585328.1_Missense_Mutation_p.R93S dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGAGCCGGGCCCTGTAGTTGT 0.592000 35 83 1.36161e-19 2.06661e-19 1 1 0 CPNE3 8895 broad.mit.edu 37 8 87559999 87559999 + Splice_Site SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:87559999G>T ENST00000521271.1 + 11 1041 c.e11+1 CPNE3_ENST00000198765.4_Splice_Site NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 GAATTTTACTGTAAGTAACAC 0.318000 12 11 1.05317e-09 1.2853e-09 1 1 0 PCDHA1 56147 broad.mit.edu 37 5 140167731 140167731 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:140167731G>A ENST00000504120.2 + 1 1856 c.1856G>A c.(1855-1857)cGc>cAc p.R619H PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R619H NM_018900.2 NP_061723.1 p.R619H(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGCGCGCGCATCCCGTTC 0.667000 24 118 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161505591 161505591 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:161505591G>A ENST00000392142.4 + 7 2462 c.2314G>A c.(2314-2316)Gag>Aag p.E772K MAP3K4_ENST00000366919.2_Missense_Mutation_p.E772K|MAP3K4_ENST00000348824.7_Missense_Mutation_p.E772K|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E772K NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 772 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TGGCTTACAGGAGAGCTGTGC 0.413000 24 23 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400490 40400490 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:40400490C>A ENST00000338305.6 - 2 905 c.363G>T c.(361-363)cgG>cgT p.R121R NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 121 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TGACCAGGCCCCGGAGGGTGT 0.587000 16 22 0.479597 0.481206 1 1 0 RADIL 55698 broad.mit.edu 37 7 4862170 4862170 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:4862170C>A ENST00000399583.3 - 6 1657 c.1470G>T c.(1468-1470)tcG>tcT p.S490S RADIL_ENST00000538469.1_Silent_p.S250S|RADIL_ENST00000536091.1_Intron NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 490 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) AGCTGGCCAGCGAGATGGGCT 0.527000 13 52 0.000308642 0.000331957 1 1 0 SNX18 112574 broad.mit.edu 37 5 53814156 53814156 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:53814156G>T ENST00000343017.6 + 1 568 c.374G>T c.(373-375)gGc>gTc p.G125V SNX18_ENST00000326277.3_Missense_Mutation_p.G125V|SNX18_ENST00000381410.4_Missense_Mutation_p.G125V NM_001145427.1 NP_001138899.1 Q96RF0 SNX18_HUMAN sorting nexin 18 125 cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) CCCGGCGCGGGCTTCCCGTAC 0.741000 3 2 0.0215528 0.0220694 1 1 0 AVPR1A 552 broad.mit.edu 37 12 63541410 63541410 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:63541410G>T ENST00000299178.2 - 2 1091 c.986C>A c.(985-987)aCc>aAc p.T329N NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 329 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GATGGTGATGGTAGGGTTTTC 0.368000 51 103 2.76378e-25 4.5405e-25 1 1 0 LRTM1 57408 broad.mit.edu 37 3 54952669 54952669 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:54952669G>A ENST00000273286.5 - 3 1017 c.855C>T c.(853-855)gcC>gcT p.A285A CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Silent_p.A209A|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 285 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) CAGTGGCAATGGCATGACGCA 0.582000 29 66 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10265493 10265493 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:10265493C>G ENST00000418404.3 - 4 610 c.447G>C c.(445-447)caG>caC p.Q149H MYH13_ENST00000252172.4_Missense_Mutation_p.Q149H|MYH13_ENST00000570743.1_Missense_Mutation_p.Q149H Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 149 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP 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 GCGGGGCCTCCTGGCGCTTTT 0.517000 32 122 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28662387 28662387 + Nonsense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:28662387A>T ENST00000280904.6 - 9 1523 c.1080T>A c.(1078-1080)taT>taA p.Y360* DSC2_ENST00000251081.6_Nonsense_Mutation_p.Y360* NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 360 Cadherin 3. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CTGATGTCACATACTAAAATA 0.318000 22 52 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42449194 42449194 + Splice_Site SNP G G T rs147805077 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:42449194G>T ENST00000282030.5 + 3 782 c.e3-1 SETBP1_ENST00000426838.4_Splice_Site NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TTCTTTTGCAGCTCCTCACAG 0.433000 Schinzel-Giedion syndrome 29 67 6.50621e-10 7.98915e-10 1 1 0 SF3A2 8175 broad.mit.edu 37 19 2247831 2247831 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:2247831C>T ENST00000221494.4 + 9 1099 c.681C>T c.(679-681)ccC>ccT p.P227P NM_007165.4 NP_009096.2 Q15428 SF3A2_HUMAN splicing factor 3a, subunit 2, 66kDa 227 Pro-rich. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding NS(1)|large_intestine(1)|lung(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCTGGCCCCCCTGGGGTGA 0.667000 24 48 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19295156 19295156 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:19295156C>T ENST00000328405.2 + 2 353 c.87C>T c.(85-87)ttC>ttT p.F29F NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 29 PAS. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 ATAGCAACTTCATCCTTGCCA 0.418000 30 162 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675475 100675475 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:100675475G>T ENST00000306151.4 + 3 842 c.778G>T c.(778-780)Gct>Tct p.A260S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 260 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCCTACAACTGCTGAAGGTCC 0.507000 135 214 4.39993e-52 8.35289e-52 1 1 0 PCDHGA7 56108 broad.mit.edu 37 5 140762746 140762746 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:140762746G>A ENST00000518325.1 + 1 280 c.280G>A c.(280-282)Gag>Aag p.E94K PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018920.2 NP_061743.1 p.E94Q(1) NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACCGGGAAGAGATCTGCGC 0.512000 40 80 0 0 1 0 0 GCNT1 2650 broad.mit.edu 37 9 79118131 79118131 + Silent SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:79118131C>G ENST00000442371.1 + 3 1773 c.834C>G c.(832-834)ctC>ctG p.L278L GCNT1_ENST00000376730.4_Silent_p.L278L|GCNT1_ENST00000536223.1_Silent_p.L278L|GCNT1_ENST00000444201.2_Silent_p.L278L NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 278 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 TTCCTCCACTCGAAACACCTC 0.458000 18 100 0 0 1 0 0 CDC20B 166979 broad.mit.edu 37 5 54416314 54416314 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:54416314C>A ENST00000296733.1 - 10 1454 c.1280G>T c.(1279-1281)cGc>cTc p.R427L CDC20B_ENST00000381375.2_Missense_Mutation_p.R427L|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Intron NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 427 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) GATGTGTAAGCGTCCATCCTT 0.468000 59 97 7.47603e-22 1.19218e-21 1 1 0 CYP2A13 1553 broad.mit.edu 37 19 41597750 41597750 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:41597750G>T ENST00000330436.3 + 5 768 c.768G>T c.(766-768)caG>caT p.Q256H NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 256 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) AGCACAACCAGCGCACGCTGG 0.577000 33 45 9.17885e-22 1.45596e-21 1 1 0 GOPC 57120 broad.mit.edu 37 6 117888158 117888158 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:117888158C>T ENST00000535237.1 - 8 1346 c.1117G>A c.(1117-1119)Gaa>Aaa p.E373K GOPC_ENST00000368498.2_Missense_Mutation_p.E373K|GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.E365K|DCBLD1_ENST00000296955.8_Intron golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) GAATCCACTTCAGGAGCCACA 0.368000 O ROS1 glioblastoma 22 13 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52000637 52000637 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:52000637G>T ENST00000291707.3 - 6 1523 c.1468C>A c.(1468-1470)Ctg>Atg p.L490M SIGLEC12_ENST00000598614.1_Missense_Mutation_p.L372M NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 490 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) AGGAAGACCAGGGCTGTGGCT 0.557000 30 71 3.76114e-14 5.18239e-14 1 1 0 RAD54L2 23132 broad.mit.edu 37 3 51694122 51694122 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:51694122A>T ENST00000409535.1 + 21 3522 c.3397A>T c.(3397-3399)Atg>Ttg p.M1133L RAD54L2_ENST00000296477.3_Missense_Mutation_p.M827L NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 1133 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) AGATGGTCGGATGGCTGCCTC 0.418000 4 18 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585052 7585052 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:7585052G>T ENST00000379802.3 + 24 7898 c.7557G>T c.(7555-7557)ctG>ctT p.L2519L DSP_ENST00000418664.2_Silent_p.L1920L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2519 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGGTGGTCCTGGTAGATAGAA 0.458000 23 88 1.50039e-11 1.93787e-11 1 1 0 FLT3 2322 broad.mit.edu 37 13 28636182 28636182 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr13:28636182C>A ENST00000380982.4 - 3 271 c.190G>T c.(190-192)Ggg>Tgg p.G64W FLT3_ENST00000537084.1_Missense_Mutation_p.G64W|FLT3_ENST00000241453.7_Missense_Mutation_p.G64W P36888 FLT3_HUMAN fms-related tyrosine kinase 3 64 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AACGCACACCCGAGGTCTTCC 0.512000 """Mis, O""" """AML, ALL""" 36 65 2.40579e-17 3.56105e-17 1 1 0 KRTAP19-6 337973 broad.mit.edu 37 21 31913989 31913989 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr21:31913989G>T ENST00000334046.5 - 1 194 c.164C>A c.(163-165)tCt>tAt p.S55Y NM_181612.2 NP_853643.1 Q3LI70 KR196_HUMAN keratin associated protein 19-6 55 intermediate filament breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 9 GTAGAATCCAGAGAATCCATA 0.463000 62 142 1.08241e-25 1.79302e-25 1 1 0 AVPR1A 552 broad.mit.edu 37 12 63544089 63544089 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:63544089C>A ENST00000299178.2 - 1 633 c.528G>T c.(526-528)gtG>gtT p.V176V NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 176 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) CGAAGCTCAGCACCCAGGCGG 0.637000 36 66 3.33393e-15 4.7696e-15 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40433821 40433821 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:40433821C>A ENST00000221347.6 - 2 455 c.448G>T c.(448-450)Ggc>Tgc p.G150C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 150 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCTGAGGTGCCGGGGGGTGTG 0.607000 27 48 7.76418e-22 1.23484e-21 1 1 0 DRP2 1821 broad.mit.edu 37 X 100509461 100509461 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:100509461C>A ENST00000395209.3 + 18 2552 c.2025C>A c.(2023-2025)aaC>aaA p.N675K DRP2_ENST00000541709.1_Missense_Mutation_p.N597K|DRP2_ENST00000402866.1_Missense_Mutation_p.N675K|DRP2_ENST00000538510.1_Missense_Mutation_p.N675K NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 675 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CCTTAAAGAACAAATTCCGCT 0.493000 11 36 0.000978159 0.00102801 1 1 0 KBTBD3 143879 broad.mit.edu 37 11 105923631 105923631 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:105923631C>A ENST00000526793.1 - 3 1944 c.1785G>T c.(1783-1785)caG>caT p.Q595H KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q595H|KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q516H NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 591 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) ACTGAATCACCTGGCAGTAAA 0.383000 33 74 4.74835e-14 6.52762e-14 1 1 0 CELSR3 1951 broad.mit.edu 37 3 48691216 48691216 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:48691216C>T ENST00000544264.1 - 9 5564 c.5284G>A c.(5284-5286)Gcc>Acc p.A1762T CELSR3_ENST00000164024.4_Missense_Mutation_p.A1762T Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1762 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGGGGATGGGCCATAGCTGAG 0.577000 41 62 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77709393 77709393 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:77709393G>T ENST00000328313.5 + 3 1172 c.951G>T c.(949-951)gaG>gaT p.E317D NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 317 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CGTTCCCCGAGGCCTTCCACT 0.612000 62 43 8.4772e-36 1.52233e-35 1 1 0 DYRK1B 9149 broad.mit.edu 37 19 40316442 40316442 + Silent SNP T T G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:40316442T>G ENST00000593685.1 - 11 2271 c.1803A>C c.(1801-1803)ccA>ccC p.P601P DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000597639.1_Silent_p.P573P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000323039.5_Silent_p.P601P Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 601 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GCGGGAGGGGTGGACGACCTC 0.716000 5 4 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52661509 52661509 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr13:52661509C>G ENST00000355568.4 - 15 1496 c.1357G>C c.(1357-1359)Gag>Cag p.E453Q NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 453 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) AATGGCAGCTCCTGGAATCTA 0.383000 16 110 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70333452 70333452 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:70333452C>A ENST00000373644.4 + 2 1566 c.1357C>A c.(1357-1359)Caa>Aaa p.Q453K NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 453 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GCCTGAGCCCCAAAGCACTGT 0.473000 29 38 9.39395e-14 1.28549e-13 1 1 0 SLC4A8 9498 broad.mit.edu 37 12 51863414 51863414 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:51863414G>T ENST00000453097.2 + 12 1583 c.1366G>T c.(1366-1368)Gtg>Ttg p.V456L SLC4A8_ENST00000394856.1_Missense_Mutation_p.V403L|SLC4A8_ENST00000514353.3_Missense_Mutation_p.V403L|SLC4A8_ENST00000535225.2_Missense_Mutation_p.V403L|SLC4A8_ENST00000358657.3_Missense_Mutation_p.V483L|SLC4A8_ENST00000546663.1_3'UTR NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 456 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TGGGGGCTTGGTGCTGGACAT 0.498000 25 48 3.28513e-13 4.44458e-13 1 1 0 LMBRD2 92255 broad.mit.edu 37 5 36117968 36117968 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:36117968C>T ENST00000296603.4 - 10 1633 c.1171G>A c.(1171-1173)Gtg>Atg p.V391M NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 391 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GACAGAACCACAGCAAGTATC 0.408000 11 48 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064694 7064694 + Silent SNP C C T rs141145409 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:7064694C>T ENST00000299481.4 + 4 1783 c.1437C>T c.(1435-1437)acC>acT p.T479T NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 479 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATGTGTTCACCCACCTTCATG 0.418000 38 91 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20685413 20685413 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:20685413C>A ENST00000404938.2 + 8 1365 c.713C>A c.(712-714)gCc>gAc p.A238D NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 424 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GAATTAAGTGCCTATTCCAAA 0.403000 17 69 2.23348e-06 2.53921e-06 1 1 0 TLDC2 140711 broad.mit.edu 37 20 35504605 35504605 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:35504605C>A ENST00000217320.3 + 1 72 c.28C>A c.(28-30)Cgg>Agg p.R10R TLDC2_ENST00000602922.1_Silent_p.R10R NM_080628.1 NP_542195.1 TBC/LysM-associated domain containing 2 GCGTTACACTCGGCTGGTAAG 0.632000 45 94 1.48734e-19 2.25171e-19 1 1 0 CYTIP 9595 broad.mit.edu 37 2 158272292 158272292 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:158272292C>A ENST00000264192.3 - 8 1098 c.977G>T c.(976-978)gGg>gTg p.G326V CYTIP_ENST00000540637.1_Missense_Mutation_p.G220V NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 326 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GGGCAGGGTCCCAAACATGCT 0.512000 35 69 3.90053e-15 5.54042e-15 1 1 0 LRRC4B 94030 broad.mit.edu 37 19 51021092 51021092 + Silent SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:51021092G>C ENST00000599957.1 - 3 2075 c.1878C>G c.(1876-1878)gcC>gcG p.A626A LRRC4B_ENST00000389201.3_Silent_p.A626A Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 626 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CGGCCGAGGCGGCGGGCAGCT 0.726000 15 19 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811349 5811349 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:5811349G>T ENST00000381095.3 - 6 2587 c.1960C>A c.(1960-1962)Cac>Aac p.H654N NLGN4X_ENST00000381093.2_Missense_Mutation_p.H674N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.H654N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.H654N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.H654N NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 654 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CCTGTTTTGTGAGGGTCCTTA 0.527000 84 75 1.63847e-34 2.91608e-34 1 1 0 FAT4 79633 broad.mit.edu 37 4 126408608 126408608 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:126408608A>T ENST00000394329.3 + 16 12938 c.12925A>T c.(12925-12927)Att>Ttt p.I4309F FAT4_ENST00000335110.5_Missense_Mutation_p.I2550F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4309 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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 CACTTTTCTAATTGGGAAAAA 0.413000 23 93 0 0 1 0 0 SYTL3 94120 broad.mit.edu 37 6 159172958 159172958 + Splice_Site SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:159172958A>T ENST00000297239.9 + 12 1228 c.e12-1 SYTL3_ENST00000360448.3_Splice_Site|SYTL3_ENST00000367081.3_Splice_Site Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) TTTGGCCCCTAGGTATGTGAA 0.552000 13 14 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228491478 228491478 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:228491478G>T ENST00000570156.2 + 52 13915 c.13841G>T c.(13840-13842)tGg>tTg p.W4614L OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.W1304L|OBSCN_ENST00000284548.11_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3657 Fibronectin type-III 3. 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 cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor 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) CCCGTGGAGTGGCGGAAGGGG 0.612000 67 130 3.13743e-37 5.70268e-37 1 1 0 FAT3 120114 broad.mit.edu 37 11 92531882 92531882 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:92531882G>T ENST00000298047.6 + 9 5720 c.5703G>T c.(5701-5703)gaG>gaT p.E1901D FAT3_ENST00000409404.2_Missense_Mutation_p.E1901D|FAT3_ENST00000525166.1_Missense_Mutation_p.E1751D Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1901 Cadherin 17. 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) TTGGAGTGGAGGTTCTGAAAG 0.423000 TCGA Ovarian(4;0.039) 8 42 0.00307968 0.00319731 1 1 0 PTPRC 5788 broad.mit.edu 37 1 198718600 198718600 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:198718600G>A ENST00000367376.2 + 28 3159 c.2988G>A c.(2986-2988)gaG>gaA p.E996E PTPRC_ENST00000442510.2_Silent_p.E998E|PTPRC_ENST00000594404.1_Silent_p.E835E|PTPRC_ENST00000352140.3_Silent_p.E948E|PTPRC_ENST00000348564.6_Silent_p.E837E NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 996 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway 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 AAGAGAGTGAGCATGATTCAG 0.338000 55 50 0 0 1 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117389 46117389 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr21:46117389G>T ENST00000400365.3 + 1 303 c.273G>T c.(271-273)caG>caT p.Q91H TSPEAR_ENST00000323084.4_Intron NM_198699.1 NP_941972.1 P60413 KR10C_HUMAN keratin associated protein 10-12 91 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(8) 9 CTAGCTGCCAGCCGGCTTGCT 0.662000 43 186 8.01111e-26 1.33444e-25 1 1 0 VPS13D 55187 broad.mit.edu 37 1 12294347 12294347 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:12294347G>T ENST00000358136.3 + 2 154 c.24G>T c.(22-24)tgG>tgT p.W8C VPS13D_ENST00000356315.4_Missense_Mutation_p.W8C NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 8 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTGTAGCCTGGGTTCTCAATA 0.398000 22 50 1.64293e-13 2.2329e-13 1 1 0 RBM19 9904 broad.mit.edu 37 12 114400175 114400175 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:114400175C>T ENST00000545145.2 - 2 159 c.81G>A c.(79-81)acG>acA p.T27T RBM19_ENST00000392561.3_Silent_p.T27T|RBM19_ENST00000261741.5_Silent_p.T27T NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 27 RRM 1. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) AGTCTGTCAGCGTGCCGAAGG 0.537000 31 75 0 0 1 0 0 TMEM174 134288 broad.mit.edu 37 5 72469541 72469541 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:72469541G>T ENST00000296776.5 + 1 520 c.471G>T c.(469-471)ctG>ctT p.L157L TMEM174_ENST00000511737.1_3'UTR NM_153217.2 NP_694949.1 Q8WUU8 TM174_HUMAN transmembrane protein 174 157 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) CCAGCTACCTGCAGTCTGTGG 0.547000 44 69 1.61572e-30 2.80873e-30 1 1 0 RIMS2 9699 broad.mit.edu 37 8 104778578 104778578 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:104778578A>G ENST00000406091.3 + 3 511 c.511A>G c.(511-513)Aga>Gga p.R171G NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 202 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCGAGGGCTAAGAAATGAGGA 0.443000 HNSCC(12;0.0054) 29 34 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64619399 64619399 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:64619399C>A ENST00000498707.1 - 13 2355 c.2013G>T c.(2011-2013)gtG>gtT p.V671V ADAMTS9_ENST00000295903.4_Silent_p.V643V NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 671 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) GGACCCAGCGCACATTGGGAA 0.512000 111 225 8.46469e-41 1.56715e-40 1 1 0 TMOD1 7111 broad.mit.edu 37 9 100326379 100326379 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:100326379G>T ENST00000395211.2 + 6 683 c.547G>T c.(547-549)Gta>Tta p.V183L TMOD1_ENST00000375175.1_Missense_Mutation_p.V56L|TMOD1_ENST00000259365.3_Missense_Mutation_p.V183L NM_001166116.1 NP_001159588.1 P28289 TMOD1_HUMAN tropomodulin 1 183 muscle filament sliding cytosol actin binding p.V183L(1) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) TTCAACAGACGTAGAGGAAAC 0.443000 6 25 0.0215528 0.0220694 1 1 0 DPY19L2 283417 broad.mit.edu 37 12 64017820 64017820 + Splice_Site SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:64017820C>A ENST00000324472.4 - 8 1136 c.953_splice c.e8+1 p.R318_splice RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 318 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TCGAAGTTACCTGAGAATCAA 0.373000 11 24 0.000673444 0.000712778 1 1 0 CSNK1G2 1455 broad.mit.edu 37 19 1979928 1979928 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:1979928G>T ENST00000255641.8 + 11 1600 c.1105G>T c.(1105-1107)Ggg>Tgg p.G369W NM_001319.6 NP_001310.3 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 369 sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCACCAACGGGGAGCTGAA 0.692000 4 19 0.150653 0.152438 1 1 0 OASL 8638 broad.mit.edu 37 12 121476600 121476600 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:121476600C>A ENST00000257570.5 - 1 445 c.175G>T c.(175-177)Gtg>Ttg p.V59L OASL_ENST00000339275.5_Missense_Mutation_p.V59L NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 59 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGCACCCGCACATCCTGGTCC 0.612000 12 36 0.000978159 0.00102801 1 1 0 TYRO3 7301 broad.mit.edu 37 15 41864670 41864670 + Missense_Mutation SNP C C T rs148583498 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:41864670C>T ENST00000263798.3 + 15 2007 c.1783C>T c.(1783-1785)Cgt>Tgt p.R595C TYRO3_ENST00000559066.1_Missense_Mutation_p.R550C NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 595 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGCTAAAGGCCGTCTCCCCAT 0.592000 20 67 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552098 178552098 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:178552098G>T ENST00000251582.7 - 19 2935 c.2834C>A c.(2833-2835)cCg>cAg p.P945Q NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 945 TSP type-1 3. 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) GTCGTGTAGCGGCTGAATGCA 0.692000 51 129 3.07002e-29 5.26037e-29 1 1 0 ABCG5 64240 broad.mit.edu 37 2 44049935 44049935 + Splice_Site SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:44049935C>A ENST00000543989.1 - 6 1984 c.e6+1 ABCG5_ENST00000405322.1_Splice_Site|ABCG5_ENST00000260645.1_Splice_Site Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CAACCCCTCACCAGTAGCACA 0.582000 12 36 1.05317e-09 1.2853e-09 1 1 0 DNMT3A 1788 broad.mit.edu 37 2 25470966 25470966 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:25470966C>A ENST00000264709.3 - 7 1132 c.795G>T c.(793-795)gtG>gtT p.V265V DNMT3A_ENST00000321117.5_Silent_p.V265V|DNMT3A_ENST00000380746.4_Silent_p.V76V|DNMT3A_ENST00000402667.1_Silent_p.V42V NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 265 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATCGGACCCCACGGGCTCAG 0.662000 """Mis, F, N, S""" AML 35 66 9.45814e-24 1.52864e-23 1 1 0 MAGEB2 4113 broad.mit.edu 37 X 30237051 30237051 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:30237051G>T ENST00000378988.4 + 2 455 c.354G>T c.(352-354)ttG>ttT p.L118F NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 118 MAGE. protein binding p.L118F(2) breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 CAGGGTCGTTGGTGCAGTTCC 0.463000 4 5 0.150653 0.152438 1 1 0 KCND3 3752 broad.mit.edu 37 1 112525136 112525136 + Missense_Mutation SNP C C A rs74392775 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:112525136C>A ENST00000369697.1 - 1 282 c.213G>T c.(211-213)aaG>aaT p.K71N KCND3_ENST00000315987.2_Missense_Mutation_p.K71N|KCND3_ENST00000302127.4_Missense_Mutation_p.K71N Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 71 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) AGAAGAACTCCTTCTCCGTGC 0.607000 18 35 3.52763e-06 3.98023e-06 1 1 0 MARK4 57787 broad.mit.edu 37 19 45766420 45766420 + Missense_Mutation SNP A A C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:45766420A>C ENST00000300843.4 + 3 599 c.302A>C c.(301-303)cAg>cCg p.Q101P MARK4_ENST00000262891.4_Missense_Mutation_p.Q101P NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 101 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AGCAGCCTGCAGAAGGTGAGG 0.642000 8 18 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 123988582 123988582 + Splice_Site SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:123988582G>T ENST00000456829.2 + 4 497 c.246_splice c.e4+1 p.K82_splice VWA5A_ENST00000392748.1_Splice_Site_p.K82_splice|VWA5A_ENST00000361352.5_Splice_Site_p.K82_splice|VWA5A_ENST00000392744.4_Splice_Site_p.K98_splice|VWA5A_ENST00000360334.4_Splice_Site_p.K82_splice|VWA5A_ENST00000449321.1_Splice_Site_p.K82_splice NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 82 VIT. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 ACAAGATGAAGGTAGTAGAGA 0.398000 32 48 2.61193e-14 3.62398e-14 1 1 0 KIAA1211 57482 broad.mit.edu 37 4 57189575 57189575 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:57189575G>T ENST00000504228.1 + 7 3325 c.3220G>T c.(3220-3222)Gat>Tat p.D1074Y KIAA1211_ENST00000541073.1_Missense_Mutation_p.D1067Y|KIAA1211_ENST00000264229.6_Missense_Mutation_p.D1074Y Q6ZU35 K1211_HUMAN KIAA1211 1074 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) ACACTCCTTAGATGGCTCCAA 0.507000 11 48 3.07112e-06 3.4717e-06 1 1 0 GMDS 2762 broad.mit.edu 37 6 1624766 1624766 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:1624766G>A ENST00000380815.4 - 10 1266 c.997C>T c.(997-999)Cag>Tag p.Q333* GMDS_ENST00000530927.1_Nonsense_Mutation_p.Q303*|GMDS_ENST00000467288.2_5'UTR NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 333 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) CAGTCGCCCTGCAGAAAGTCC 0.662000 4 27 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44974343 44974343 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:44974343C>A ENST00000340446.4 - 1 2139 c.1848G>T c.(1846-1848)gaG>gaT p.E616D NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 616 Ala-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CGGGGGCCTCCTCAGCTGGTG 0.612000 14 37 3.41278e-10 4.25176e-10 1 1 0 FGF6 2251 broad.mit.edu 37 12 4554424 4554424 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:4554424G>A ENST00000228837.2 - 1 356 c.313C>T c.(313-315)Cgg>Tgg p.R105W NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 105 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) CCGCTGATCCGGCCGTCGGGG 0.622000 4 24 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129870489 129870489 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:129870489G>T ENST00000373425.3 - 2 1139 c.522C>A c.(520-522)agC>agA p.S174R RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 174 multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 CCTTGTACTTGCTGGCCAGCT 0.597000 10 30 7.48243e-07 8.58828e-07 1 1 0 TNFSF11 8600 broad.mit.edu 37 13 43174903 43174903 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr13:43174903G>T ENST00000398795.2 + 3 552 c.184G>T c.(184-186)Gtt>Ttt p.V62F TNFSF11_ENST00000544862.1_Missense_Mutation_p.V62F|TNFSF11_ENST00000239849.6_Missense_Mutation_p.V135F|TNFSF11_ENST00000405262.2_Missense_Mutation_p.V62F|TNFSF11_ENST00000358545.2_Missense_Mutation_p.V62F NM_003701.3 NP_003692.1 O14788 TNF11_HUMAN tumor necrosis factor (ligand) superfamily, member 11 135 immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 10 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) ACAACATATCGTTGGATCACA 0.328000 12 44 0.000978159 0.00102801 1 1 0 SMOC2 64094 broad.mit.edu 37 6 168944338 168944338 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:168944338G>T ENST00000354536.5 + 5 717 c.497G>T c.(496-498)gGc>gTc p.G166V SMOC2_ENST00000356284.2_Missense_Mutation_p.G166V NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 166 signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CAACGCGAAGGCACAGGAAAA 0.333000 5 9 5.9392e-07 6.84324e-07 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885699 88885699 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:88885699G>T ENST00000319675.3 - 1 597 c.501C>A c.(499-501)agC>agA p.S167R NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 167 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TTCCTGGGAAGCTACCTATGA 0.562000 46 69 9.39024e-22 1.48555e-21 1 1 0 APOC3 345 broad.mit.edu 37 11 116701583 116701583 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:116701583G>T ENST00000375345.1 + 3 266 c.204G>T c.(202-204)gtG>gtT p.V68V APOC3_ENST00000227667.3_Silent_p.V50V|APOC3_ENST00000470144.1_3'UTR P02656 APOC3_HUMAN apolipoprotein C-III 50 Lipid-binding. Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding endometrium(1)|lung(6) 7 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TGAGCAGCGTGCAGGAGTCCC 0.662000 16 26 1.02788e-11 1.33335e-11 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105410888 105410888 + Missense_Mutation SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:105410888T>C ENST00000333244.5 - 7 11019 c.10900A>G c.(10900-10902)Aaa>Gaa p.K3634E AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3634 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGCTGTCTTTGGCAGTCACG 0.597000 81 337 0 0 1 0 0 PI16 221476 broad.mit.edu 37 6 36930854 36930854 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:36930854A>G ENST00000373674.3 + 5 1064 c.736A>G c.(736-738)Aca>Gca p.T246A PI16_ENST00000491324.1_Intron NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 246 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTCTTGGTAACAGAGGTCTC 0.567000 25 103 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162273557 162273557 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:162273557C>T ENST00000389554.3 + 1 953 c.636C>T c.(634-636)ccC>ccT p.P212P NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 212 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 GCAACAGGCCCCTTTGGCTGA 0.577000 31 89 0 0 1 0 0 SH3BP5 9467 broad.mit.edu 37 3 15300517 15300517 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:15300517G>A ENST00000383791.3 - 7 930 c.710C>T c.(709-711)aCc>aTc p.T237I SH3BP5_ENST00000408919.3_Missense_Mutation_p.T80I|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000253688.5_Missense_Mutation_p.T80I|SH3BP5_ENST00000426925.1_Missense_Mutation_p.T80I NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 237 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 TTTTGCCAGGGTCAGTTTGGC 0.537000 28 35 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10468894 10468894 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:10468894G>T ENST00000382483.3 - 4 2937 c.2714C>A c.(2713-2715)tCa>tAa p.S905* NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 905 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TGATGCCCCTGAATTGGGGCC 0.716000 7 9 0.0381472 0.038796 1 1 0 KCNAB1 7881 broad.mit.edu 37 3 156249251 156249251 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:156249251C>A ENST00000302490.8 + 13 1952 c.1081C>A c.(1081-1083)Cct>Act p.P361T KCNAB1_ENST00000471742.1_Missense_Mutation_p.P368T|KCNAB1_ENST00000389634.5_Missense_Mutation_p.P332T|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.P350T|KCNAB1_ENST00000490337.1_Missense_Mutation_p.P379T NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 379 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ATCATCCACTCCTGAACAACT 0.502000 64 106 1.02487e-32 1.80257e-32 1 1 0 DYRK1A 1859 broad.mit.edu 37 21 38865332 38865332 + Missense_Mutation SNP T T G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr21:38865332T>G ENST00000339659.3 + 7 2408 c.938T>G c.(937-939)aTt>aGt p.I313S DYRK1A_ENST00000398956.2_Missense_Mutation_p.I322S|DYRK1A_ENST00000451934.1_Missense_Mutation_p.I322S|DYRK1A_ENST00000338785.3_Missense_Mutation_p.I322S|DYRK1A_ENST00000455387.2_Missense_Mutation_p.I94S|DYRK1A_ENST00000321219.8_Missense_Mutation_p.I322S|DYRK1A_ENST00000398960.2_Missense_Mutation_p.I322S NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 322 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TACCAGTATATTCAGAGTCGC 0.368000 18 101 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44491060 44491060 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:44491060C>A ENST00000425708.2 - 6 1217 c.876G>T c.(874-876)tgG>tgT p.W292C ZNF445_ENST00000396077.2_Missense_Mutation_p.W292C P59923 ZN445_HUMAN zinc finger protein 445 292 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) TGTTCAGGCCCCATGGCTCCC 0.547000 21 43 2.89027e-11 3.69312e-11 1 1 0 VPS39 23339 broad.mit.edu 37 15 42461932 42461932 + Missense_Mutation SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:42461932T>C ENST00000318006.5 - 12 1385 c.1223A>G c.(1222-1224)tAc>tGc p.Y408C VPS39_ENST00000348544.4_Missense_Mutation_p.Y419C NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 419 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) CTGTGTCAGGTAGTCAATCAG 0.493000 14 40 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395980 47395980 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:47395980T>A ENST00000310638.4 - 12 1398 c.1367A>T c.(1366-1368)aAc>aTc p.N456I CYP4A11_ENST00000371904.4_Missense_Mutation_p.N457I|CYP4A11_ENST00000475477.1_5'UTR NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 456 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) CCCGATGCAGTTCCTGGGCCA 0.577000 33 95 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121350731 121350731 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:121350731C>T ENST00000314583.3 - 14 1514 c.1423G>A c.(1423-1425)Gga>Aga p.G475R HCLS1_ENST00000428394.2_Missense_Mutation_p.G438R|HCLS1_ENST00000473883.1_5'UTR NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 475 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) GGGAAGAGTCCAAAGTGGCCA 0.527000 31 70 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27121538 27121538 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:27121538G>T ENST00000288699.6 + 2 329 c.171G>T c.(169-171)ctG>ctT p.L57L DPYSL5_ENST00000401478.1_Silent_p.L57L NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 57 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGAAAACTGGTGATCCCTG 0.577000 33 53 2.08457e-15 2.99657e-15 1 1 0 MPPED1 758 broad.mit.edu 37 22 43870810 43870810 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:43870810G>T ENST00000417669.1 + 4 1045 c.601G>T c.(601-603)Gtg>Ttg p.V201L MPPED1_ENST00000414469.2_Missense_Mutation_p.V95L|MPPED1_ENST00000443721.1_Missense_Mutation_p.V201L|MPPED1_ENST00000542779.1_Missense_Mutation_p.V201L|MPPED1_ENST00000439548.1_Missense_Mutation_p.V43L|MPPED1_ENST00000538182.1_Missense_Mutation_p.V234L O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 201 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) GGAGGTCACCGTGCGGGGCTT 0.592000 19 33 1.55795e-14 2.18698e-14 1 1 0 RTEL1 51750 broad.mit.edu 37 20 62322178 62322178 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:62322178C>T ENST00000318100.4 + 27 3261 c.2434C>T c.(2434-2436)Ccc>Tcc p.P812S RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P812S|RTEL1_ENST00000370018.3_Missense_Mutation_p.P812S|RTEL1_ENST00000360203.5_Missense_Mutation_p.P812S|RTEL1_ENST00000508582.2_Missense_Mutation_p.P836S|RTEL1_ENST00000370003.1_Missense_Mutation_p.P57S Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 812 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) TGCCGGGGACCCCGAGAGTAG 0.711000 4 8 0 0 1 0 0 NAPA 8775 broad.mit.edu 37 19 47996260 47996260 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:47996260C>A ENST00000263354.3 - 7 818 c.519G>T c.(517-519)gcG>gcT p.A173A NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Silent_p.A134A|NAPA-AS1_ENST00000593284.1_RNA NM_003827.3 NP_003818.2 P54920 SNAA_HUMAN N-ethylmaleimide-sensitive factor attachment protein, alpha 173 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3) 11 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) GCTCCAGCAGCGCAGCGTAAC 0.642000 32 60 2.68265e-12 3.53353e-12 1 1 0 ADAM12 8038 broad.mit.edu 37 10 127708298 127708298 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:127708298G>T ENST00000368679.4 - 22 2944 c.2635C>A c.(2635-2637)Caa>Aaa p.Q879K NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 879 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding p.Q879*(2) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GTCTCCCATTGTCCTGGGGTC 0.582000 27 33 1.77063e-15 2.55142e-15 1 1 0 OR6N2 81442 broad.mit.edu 37 1 158746841 158746841 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:158746841G>T ENST00000339258.1 - 1 584 c.585C>A c.(583-585)aaC>aaA p.N195K NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) CCACCAGAATGTTAGCAGATG 0.408000 11 106 1.58986e-06 1.81439e-06 1 1 0 OR8D4 338662 broad.mit.edu 37 11 123777894 123777894 + Nonsense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:123777894T>A ENST00000321355.2 + 1 786 c.756T>A c.(754-756)taT>taA p.Y252* NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TTATGTTTTATGGGTCTCTGA 0.453000 52 106 0 0 1 0 0 ODF3L2 284451 broad.mit.edu 37 19 463925 463925 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:463925G>T ENST00000315489.4 - 4 1024 c.789C>A c.(787-789)cgC>cgA p.R263R ODF3L2_ENST00000382696.3_Silent_p.R227R NM_182577.2 NP_872383.1 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 263 large_intestine(1)|lung(2) 3 GTTTCGAGTGGCGGATGCCCA 0.716000 12 20 9.31168e-06 1.04473e-05 1 1 0 UGT1A8 54576 broad.mit.edu 37 2 234526615 234526615 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:234526615C>A ENST00000373450.4 + 1 325 c.262C>A c.(262-264)Cgg>Agg p.R88R NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) GGATCTGGACCGGGAATTCAT 0.418000 74 140 7.1157e-29 1.21577e-28 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105410891 105410891 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:105410891C>G ENST00000333244.5 - 7 11016 c.10897G>C c.(10897-10899)Gcc>Ccc p.A3633P AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3633 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGTCTTTGGCAGTCACGTCC 0.602000 78 331 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35583848 35583848 + Silent SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:35583848A>T ENST00000287272.2 + 9 1295 c.1275A>T c.(1273-1275)ggA>ggT p.G425G UNC5D_ENST00000449677.1_Silent_p.G70G|UNC5D_ENST00000416672.1_Silent_p.G499G|UNC5D_ENST00000404895.2_Silent_p.G494G|UNC5D_ENST00000453357.2_Silent_p.G489G|UNC5D_ENST00000420357.1_Silent_p.G427G Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 494 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTTCCCTGGGAGTGTCTGAGA 0.478000 30 22 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18280126 18280126 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:18280126A>T ENST00000377369.2 + 8 1589 c.1316A>T c.(1315-1317)cAt>cTt p.H439L SLC39A12_ENST00000539911.1_Missense_Mutation_p.H305L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.H439L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.H439L NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 439 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 GGGCATTTCCATGAAAGCAAA 0.358000 20 48 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65623006 65623006 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:65623006G>T ENST00000327987.4 - 10 1886 c.1635C>A c.(1633-1635)ccC>ccA p.P545P NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 545 Fibronectin type-III 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGGCCAGCCGGGGCCAAGGCT 0.662000 6 26 0.00116845 0.00122584 1 1 0 LILRB1 10859 broad.mit.edu 37 19 55143161 55143161 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:55143161G>T ENST00000396331.1 + 5 638 c.281G>T c.(280-282)gGg>gTg p.G94V LILRB1_ENST00000396332.4_Missense_Mutation_p.G94V|LILRB1_ENST00000324602.7_Missense_Mutation_p.G94V|LILRB1_ENST00000448689.1_Missense_Mutation_p.G94V|LILRB1_ENST00000396317.1_Missense_Mutation_p.G94V|LILRB1_ENST00000396327.3_Missense_Mutation_p.G94V|LILRB1_ENST00000434867.2_Missense_Mutation_p.G94V|LILRB1_ENST00000396315.1_Missense_Mutation_p.G94V|LILRB1_ENST00000396321.2_Missense_Mutation_p.G94V|LILRB1_ENST00000427581.2_Missense_Mutation_p.G130V|LILRB1_ENST00000418536.2_Missense_Mutation_p.G94V NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 94 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity 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) GAACATGCAGGGCGGTATCGC 0.562000 HNSCC(37;0.09) 53 89 1.08114e-33 1.91279e-33 1 1 0 OAS3 4940 broad.mit.edu 37 12 113379681 113379681 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:113379681A>T ENST00000551007.1 + 2 571 c.484A>T c.(484-486)Agg>Tgg p.R162W RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000548514.1_Intron|OAS3_ENST00000228928.7_Intron|OAS3_ENST00000546638.1_Intron Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 0 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 AGACCATTCCAGGGTTGGGGG 0.552000 51 68 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167868866 167868866 + Splice_Site SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:167868866C>A ENST00000367848.1 - 6 658 c.160_splice c.e6-1 p.G54_splice ADCY10_ENST00000367851.4_Splice_Site_p.G146_splice|ADCY10_ENST00000545172.1_5'UTR Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 146 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AGCAGCCAGTCCTGGCAAGAA 0.488000 22 65 7.41877e-09 8.9633e-09 1 1 0 KRTAP9-3 83900 broad.mit.edu 37 17 39388857 39388857 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:39388857C>T ENST00000411528.2 + 1 143 c.104C>T c.(103-105)cCc>cTc p.P35L NM_031962.2 NP_114168.1 Q9BYQ3 KRA93_HUMAN keratin associated protein 9-3 35 16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI]. keratin filament protein binding breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCTGTCAGCCCTCCTGCTGT 0.617000 12 60 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37841704 37841704 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:37841704G>T ENST00000381967.4 + 6 642 c.542G>T c.(541-543)gGa>gTa p.G181V PGM2_ENST00000544359.1_Missense_Mutation_p.G42V|PGM2_ENST00000537241.1_Missense_Mutation_p.G21V NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 181 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 TGGGATAATGGAGCTCAGATC 0.403000 53 75 2.14255e-21 3.38059e-21 1 1 0 TRIO 7204 broad.mit.edu 37 5 14280470 14280470 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:14280470C>T ENST00000344204.4 + 3 296 c.272C>T c.(271-273)cCg>cTg p.P91L TRIO_ENST00000537187.1_Missense_Mutation_p.P91L|TRIO_ENST00000509967.2_Missense_Mutation_p.P42L NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 91 CRAL-TRIO. 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|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TTAACGTTTCCGGCCCGCAGC 0.433000 35 53 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38117315 38117315 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr21:38117315C>T ENST00000290399.6 + 10 2067 c.1454C>T c.(1453-1455)gCc>gTc p.A485V SIM2_ENST00000430056.3_Missense_Mutation_p.A485V NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 485 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(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 ACACTGCCAGCCAGCGGTGAA 0.582000 28 58 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821611 5821611 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:5821611C>A ENST00000381095.3 - 5 1735 c.1108G>T c.(1108-1110)Ggc>Tgc p.G370C NLGN4X_ENST00000381093.2_Missense_Mutation_p.G390C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G370C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G370C|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G370C NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 370 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TGGTTGACGCCCAGCATGATG 0.587000 30 19 1.96642e-18 2.92517e-18 1 1 0 ZNF100 163227 broad.mit.edu 37 19 21910399 21910399 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:21910399C>A ENST00000358296.6 - 5 913 c.715G>T c.(715-717)Ggc>Tgc p.G239C ZNF100_ENST00000305570.6_Missense_Mutation_p.G175C NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 239 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 AAGGCTTTGCCACAATCTTTA 0.353000 20 56 1.15919e-05 1.29086e-05 1 1 0 ZPBP 11055 broad.mit.edu 37 7 50023055 50023055 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:50023055C>G ENST00000046087.2 - 7 913 c.844G>C c.(844-846)Gaa>Caa p.E282Q ZPBP_ENST00000491129.1_5'UTR|ZPBP_ENST00000419417.1_Missense_Mutation_p.E281Q NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 282 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) GGTAATTGTTCTGCACGTCTG 0.328000 8 35 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204650 9204650 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:9204650C>A ENST00000429566.3 + 1 796 c.730C>A c.(730-732)Cac>Aac p.H244N NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CTGCAGCTCCCACCTGTCTGT 0.567000 68 135 4.38816e-42 8.20038e-42 1 1 0 BDP1 55814 broad.mit.edu 37 5 70785408 70785408 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:70785408G>C ENST00000358731.4 + 10 1654 c.1391G>C c.(1390-1392)aGa>aCa p.R464T BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 464 Required for phosphorylation by CSNK2A1. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CAAAAGAAAAGAAGGAGGAAG 0.423000 39 50 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2916087 2916087 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:2916087C>T ENST00000306908.5 + 3 290 c.142C>T c.(142-144)Caa>Taa p.Q48* ZNF57_ENST00000523428.1_Nonsense_Mutation_p.Q16*|AC006277.2_ENST00000520090.2_RNA NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 48 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) TGATGGGACTCAATTTAAAGC 0.383000 38 63 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86258474 86258474 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:86258474G>A ENST00000263857.6 - 30 4935 c.4557C>T c.(4555-4557)acC>acT p.T1519T POLR1A_ENST00000409681.1_Intron O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1519 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GGCTCTCCTCGGTGTCGTACT 0.662000 54 81 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56639370 56639370 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:56639370C>G ENST00000267116.7 - 21 2316 c.2195G>C c.(2194-2196)gGc>gCc p.G732A NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 732 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 GTCCTCACAGCCAGTCACTGC 0.597000 18 35 0 0 1 0 0 VASN 114990 broad.mit.edu 37 16 4432789 4432789 + Silent SNP A A C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:4432789A>C ENST00000304735.3 + 2 2066 c.1911A>C c.(1909-1911)gcA>gcC p.A637A CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000537233.2_Intron NM_138440.2 NP_612449.2 Q6EMK4 VASN_HUMAN vasorin 637 extracellular region|integral to membrane breast(1)|lung(3)|prostate(1)|skin(1) 6 GCCCGAAGGCAACAGAGGGCG 0.687000 8 5 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10327515 10327515 + Silent SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:10327515T>C ENST00000377086.1 + 6 709 c.507T>C c.(505-507)cgT>cgC p.R169R KIF1B_ENST00000377093.4_Silent_p.R169R|KIF1B_ENST00000377083.1_Silent_p.R169R|KIF1B_ENST00000377081.1_Silent_p.R169R|KIF1B_ENST00000263934.6_Silent_p.R169R O60333 KIF1B_HUMAN kinesin family member 1B 169 Kinesin-motor. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TGCGTGTGCGTGAACACCCAC 0.433000 29 61 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443826 5443826 + Silent SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:5443826C>G ENST00000300778.4 + 1 486 c.396C>G c.(394-396)ctC>ctG p.L132L HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGTCCCCTCCATTATGCCT 0.478000 91 187 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151520234 151520234 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:151520234G>A ENST00000535741.1 - 38 6444 c.5971C>T c.(5971-5973)Cgc>Tgc p.R1991C LRBA_ENST00000357115.3_Missense_Mutation_p.R1991C|LRBA_ENST00000507224.1_Missense_Mutation_p.R1991C|LRBA_ENST00000510413.1_Missense_Mutation_p.R1991C P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1991 Poly-Arg. endoplasmic reticulum|Golgi apparatus|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) CGTCGCCGGCGCCGCAAGTCA 0.493000 50 54 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98770767 98770767 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:98770767G>A ENST00000266058.4 - 31 3569 c.3324C>T c.(3322-3324)ctC>ctT p.L1108L ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.L1108L NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1108 EGF-like 5. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CCTCAGCACAGAGGCAGGAGT 0.602000 19 20 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19753612 19753612 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr13:19753612G>C ENST00000400113.3 - 2 199 c.95C>G c.(94-96)cCc>cGc p.P32R NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 32 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CTGACCATCGGGCTGAATTCC 0.552000 43 67 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152323988 152323988 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:152323988G>T ENST00000388718.5 - 3 6346 c.6274C>A c.(6274-6276)Cag>Aag p.Q2092K FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2092 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) GACCCTCTCTGTGTGGACTGT 0.527000 670 652 3.2671e-213 6.28207e-213 1 1 0 RAD54L2 23132 broad.mit.edu 37 3 51661703 51661703 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:51661703A>G ENST00000409535.1 + 3 399 c.274A>G c.(274-276)Aac>Gac p.N92D NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 92 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CCAAGGCAAGAACCTAGCCTC 0.557000 8 26 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433077 55433077 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:55433077G>T ENST00000314259.3 + 1 464 c.435G>T c.(433-435)ggG>ggT p.G145G NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGGTAGGAGGGGCTTGGGTGG 0.478000 43 96 1.7489e-18 2.61461e-18 1 1 0 ALDH4A1 8659 broad.mit.edu 37 1 19209798 19209798 + Missense_Mutation SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:19209798T>C ENST00000375341.3 - 6 835 c.578A>G c.(577-579)aAc>aGc p.N193S ALDH4A1_ENST00000290597.5_Missense_Mutation_p.N193S|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.N133S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.N193S NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 193 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) CACCGTGCTGTTGGTGCTCGG 0.642000 12 37 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106843916 106843916 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:106843916C>A ENST00000276185.4 + 16 2746 c.2746C>A c.(2746-2748)Cca>Aca p.P916T Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 916 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 AGCACTGTCCCCACAGCTTAG 0.602000 5 7 1 1 1 1 0 PMM1 5372 broad.mit.edu 37 22 41980548 41980548 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:41980548G>A ENST00000216259.7 - 3 349 c.265C>T c.(265-267)Cga>Tga p.R89* PMM1_ENST00000466645.1_5'UTR NM_002676.2 NP_002667.2 Q92871 PMM1_HUMAN phosphomannomutase 1 89 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2) 11 GAGAGCAGTCGTCCGTGCTTA 0.552000 19 38 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24923186 24923186 + Nonsense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:24923186C>G ENST00000329468.2 + 1 2646 c.2172C>G c.(2170-2172)taC>taG p.Y724* NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TCCCATTTTACCTGGGGCTTC 0.542000 44 79 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69326542 69326542 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:69326542C>A ENST00000551568.1 - 2 136 c.76G>T c.(76-78)Gaa>Taa p.E26* CPM_ENST00000546373.1_Nonsense_Mutation_p.E26*|CPM_ENST00000338356.3_Nonsense_Mutation_p.E26* NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 26 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TCCATCCCTTCCTGGCGGTGG 0.478000 25 106 1.64293e-13 2.2329e-13 1 1 0 NRAP 4892 broad.mit.edu 37 10 115391691 115391691 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:115391691C>G ENST00000369358.4 - 17 1909 c.1665G>C c.(1663-1665)aaG>aaC p.K555N NRAP_ENST00000369360.3_Missense_Mutation_p.K520N|NRAP_ENST00000360478.3_Missense_Mutation_p.K520N|NRAP_ENST00000359988.3_Missense_Mutation_p.K555N Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 555 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ATCCTTTCCCCTTTGTCTTCT 0.453000 48 32 0 0 1 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129276 248129276 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:248129276C>T ENST00000366480.3 + 1 742 c.643C>T c.(643-645)Ctc>Ttc p.L215F OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GTATACAGTCCTCCTGAGTGG 0.453000 23 134 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51172542 51172542 + Splice_Site SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:51172542C>A ENST00000293441.1 - 22 2693 c.2674_splice c.e22-1 p.G892_splice SHANK1_ENST00000391813.1_Splice_Site_p.G279_splice|SHANK1_ENST00000391814.1_Splice_Site_p.G900_splice|SHANK1_ENST00000359082.3_Splice_Site_p.G883_splice NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 892 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TTCTGCCGCACCTGGGGAGAT 0.592000 OREG0025642 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 8 0.27861 0.280487 1 1 0 CROCC 9696 broad.mit.edu 37 1 17295692 17295692 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:17295692A>G ENST00000375541.5 + 32 5227 c.5158A>G c.(5158-5160)Agc>Ggc p.S1720G NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1720 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGTGGAGGAAAGCGAGGGGGC 0.677000 9 10 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140953137 140953137 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:140953137C>A ENST00000277549.5 + 30 4582 c.2013C>A c.(2011-2013)taC>taA p.Y671* CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.Y1475*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.Y1475*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.Y1476*|CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.Y1475*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.Y1476* Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1475 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCTTTGAATACTTCATCATGG 0.567000 5 6 0.000602214 0.000639652 1 1 0 DMKN 93099 broad.mit.edu 37 19 36004175 36004175 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:36004175C>A ENST00000339686.3 - 1 379 c.203G>T c.(202-204)aGt>aTt p.S68I DMKN_ENST00000451297.2_Missense_Mutation_p.S68I|DMKN_ENST00000447113.2_Missense_Mutation_p.S68I|DMKN_ENST00000418261.1_Missense_Mutation_p.S68I|DMKN_ENST00000419602.1_Missense_Mutation_p.S68I|DMKN_ENST00000440396.1_Missense_Mutation_p.S68I|DMKN_ENST00000429837.1_Missense_Mutation_p.S68I|DMKN_ENST00000424570.2_Missense_Mutation_p.S68I NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 68 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) AAGGGCCTCACTGACTTTAGA 0.617000 53 67 5.39261e-20 8.26867e-20 1 1 0 F13A1 2162 broad.mit.edu 37 6 6305759 6305759 + Silent SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:6305759G>C ENST00000264870.3 - 3 409 c.144C>G c.(142-144)gtC>gtG p.V48V NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 48 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GAACGCTCGTGACATTAAGAA 0.383000 24 35 0 0 1 0 0 OR2T34 127068 broad.mit.edu 37 1 248737539 248737539 + Missense_Mutation SNP A A C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:248737539A>C ENST00000328782.2 - 1 541 c.520T>G c.(520-522)Tgc>Ggc p.C174G NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 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) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTAGACTGGCAAAAGGGGAAG 0.522000 52 218 0 0 1 0 0 HOXB13 10481 broad.mit.edu 37 17 46804335 46804335 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:46804335G>A ENST00000290295.7 - 2 1256 c.672C>T c.(670-672)agC>agT p.S224S NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 224 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 ACTGCCCCTTGCTGTACGGAA 0.632000 40 59 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148771595 148771595 + Missense_Mutation SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:148771595T>C ENST00000451334.3 - 4 581 c.70A>G c.(70-72)Att>Gtt p.I24V ZNF786_ENST00000491431.1_Missense_Mutation_p.I61V|ZNF786_ENST00000316286.9_5'UTR Q8N393 ZN786_HUMAN zinc finger protein 786 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 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) CCGTGTTCAATCCAGGATATT 0.408000 9 36 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117243240 117243240 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:117243240C>T ENST00000332958.2 + 13 1379 c.1363C>T c.(1363-1365)Ctc>Ttc p.L455F NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 455 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 ACTGAAGGATCTCCTTAAGAA 0.348000 53 39 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54952670 54952670 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:54952670G>T ENST00000273286.5 - 3 1016 c.854C>A c.(853-855)gCc>gAc p.A285D CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.A209D|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 285 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AGTGGCAATGGCATGACGCAG 0.582000 30 65 7.01153e-11 8.90212e-11 1 1 0 TOPORS 10210 broad.mit.edu 37 9 32544314 32544314 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:32544314G>A ENST00000360538.2 - 3 325 c.209C>T c.(208-210)tCa>tTa p.S70L TOPORS_ENST00000379858.1_Missense_Mutation_p.S5L NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 70 E3 ubiquitin-protein ligase activity.|Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) CTTAGCAGCTGATGCCATTAT 0.358000 32 56 0 0 1 0 0 RNF14 9604 broad.mit.edu 37 5 141357914 141357914 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:141357914G>T ENST00000394520.2 + 5 662 c.353G>T c.(352-354)cGt>cTt p.R118L RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394519.1_Missense_Mutation_p.R118L|RNF14_ENST00000356143.1_Missense_Mutation_p.R118L|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000347642.3_Missense_Mutation_p.R118L NM_001201365.1|NM_004290.4 NP_001188294.1|NP_004281.1 Q9UBS8 RNF14_HUMAN ring finger protein 14 118 RWD. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GAAGAACACCGTGGCAGCGTG 0.453000 35 72 2.20474e-14 3.08766e-14 1 1 0 UBXN7 26043 broad.mit.edu 37 3 196089298 196089298 + Silent SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:196089298C>G ENST00000296328.4 - 9 1169 c.1095G>C c.(1093-1095)ccG>ccC p.P365P UBXN7_ENST00000535858.1_Silent_p.P217P|UBXN7_ENST00000428095.1_Silent_p.P203P NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 365 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GCTCAGTCAGCGGCCTTCTAT 0.483000 50 86 0 0 1 0 0 PCMTD2 55251 broad.mit.edu 37 20 62891624 62891624 + Splice_Site SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:62891624A>T ENST00000308824.6 + 2 433 c.307_splice c.e2+1 p.L102_splice PCMTD2_ENST00000299468.7_Splice_Site_p.L102_splice|PCMTD2_ENST00000369758.3_Splice_Site_p.L102_splice NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 102 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCCTCATTCTAGGTAAGTGTG 0.532000 33 68 0 0 1 0 0 SMOC2 64094 broad.mit.edu 37 6 168944337 168944337 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:168944337G>T ENST00000354536.5 + 5 716 c.496G>T c.(496-498)Ggc>Tgc p.G166C SMOC2_ENST00000356284.2_Missense_Mutation_p.G166C NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 166 signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CCAACGCGAAGGCACAGGAAA 0.333000 5 9 1.23904e-05 1.37467e-05 1 1 0 TRBV9 28586 broad.mit.edu 37 7 142239628 142239628 + RNA SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:142239628G>A ENST00000390363.2 - 0 298 ACTGTTGTGCGGAGAATCGTT 0.498000 41 80 0 0 1 0 0 FIGN 55137 broad.mit.edu 37 2 164467333 164467333 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:164467333T>A ENST00000333129.3 - 3 1323 c.1009A>T c.(1009-1011)Agc>Tgc p.S337C FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 337 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 TGGCCATAGCTGTAATTTCCA 0.463000 40 83 0 0 1 0 0 ZNF251 90987 broad.mit.edu 37 8 145947736 145947736 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:145947736C>A ENST00000292562.7 - 5 1584 c.1309G>T c.(1309-1311)Gag>Tag p.E437* ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 437 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) TTGCCGCACTCATTACAAACA 0.458000 56 67 8.99859e-20 1.36925e-19 1 1 0 RFX6 222546 broad.mit.edu 37 6 117243241 117243241 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:117243241T>A ENST00000332958.2 + 13 1380 c.1364T>A c.(1363-1365)cTc>cAc p.L455H NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 455 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CTGAAGGATCTCCTTAAGAAG 0.348000 52 39 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39613319 39613319 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:39613319C>T ENST00000265708.4 - 16 1828 c.1725G>A c.(1723-1725)gtG>gtA p.V575V ADAM2_ENST00000379853.2_Silent_p.V419V|ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000347580.4_Silent_p.V556V NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 575 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TGGCAAATTCCACAGCAATGC 0.338000 31 71 0 0 1 0 0 TEX13B 56156 broad.mit.edu 37 X 107224903 107224903 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:107224903T>A ENST00000302917.1 - 2 547 c.455A>T c.(454-456)cAt>cTt p.H152L NM_031273.2 NP_112563.1 Q9BXU2 TX13B_HUMAN testis expressed 13B 152 breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 TCTTACGGCATGGAAGAGCTT 0.597000 42 36 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231995 7231995 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:7231995G>T ENST00000383467.2 + 1 873 c.859G>T c.(859-861)Ggc>Tgc p.G287C NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 287 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGTGGAGGGGGGCCTGGAGAT 0.587000 68 186 3.86735e-44 7.24976e-44 1 1 0 S100A7A 338324 broad.mit.edu 37 1 153390627 153390627 + Silent SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:153390627T>A ENST00000368729.4 + 2 126 c.69T>A c.(67-69)cgT>cgA p.R23R S100A7A_ENST00000329256.2_Silent_p.R23R|S100A7A_ENST00000368728.2_Silent_p.R23R NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 23 EF-hand 1. R -> H (in dbSNP:rs55985140). cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) ACACCGGACGTGATGGCAAGA 0.453000 157 166 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48752480 48752480 + Silent SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:48752480T>C ENST00000316623.5 - 43 5714 c.5259A>G c.(5257-5259)ccA>ccG p.P1753P NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1753 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TGACAAAGCCTGGCCTTTGAC 0.418000 12 40 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27121537 27121537 + Missense_Mutation SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:27121537T>C ENST00000288699.6 + 2 328 c.170T>C c.(169-171)cTg>cCg p.L57P DPYSL5_ENST00000401478.1_Missense_Mutation_p.L57P NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 57 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAGGAAAACTGGTGATCCCT 0.577000 33 54 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39512397 39512397 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:39512397C>A ENST00000287152.7 - 12 1454 c.1360G>T c.(1360-1362)Gaa>Taa p.E454* KIF6_ENST00000373215.3_Nonsense_Mutation_p.E454*|KIF6_ENST00000373213.4_Nonsense_Mutation_p.E293*|KIF6_ENST00000373216.3_Nonsense_Mutation_p.E454*|KIF6_ENST00000538893.1_Nonsense_Mutation_p.E454* NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 454 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TTTAATGGTTCTTGACAATCT 0.338000 17 44 1.5739e-10 1.98563e-10 1 1 0 ZNF407 55628 broad.mit.edu 37 18 72347394 72347394 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:72347394G>T ENST00000299687.5 + 1 4419 c.4419G>T c.(4417-4419)caG>caT p.Q1473H ZNF407_ENST00000309902.6_Missense_Mutation_p.Q1473H|ZNF407_ENST00000582337.1_Missense_Mutation_p.Q1473H|ZNF407_ENST00000577538.1_Missense_Mutation_p.Q1473H NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GAAATGAGCAGGCCAGTGTGG 0.463000 13 17 9.05144e-12 1.17669e-11 1 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146536856 146536856 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:146536856G>A ENST00000361727.3 + 3 778 c.262G>A c.(262-264)Gac>Aac p.D88N NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 88 F5/8 type C. 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 p.D88N(1) 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) GCTTCAGGTTGACTTTGGCAA 0.483000 HNSCC(39;0.1) 14 73 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238928 48238928 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:48238928C>T ENST00000309562.2 + 1 585 c.567C>T c.(565-567)gaC>gaT p.D189D NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CCTGCACTGACACCTTCATGG 0.448000 22 154 0 0 1 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413827 61413827 + Silent SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:61413827T>A ENST00000395348.3 - 5 1593 c.957A>T c.(955-957)ggA>ggT p.G319G SLC16A9_ENST00000395347.1_Silent_p.G319G NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 319 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 GTGGAAACCCTCCGATGTCAA 0.348000 41 21 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9361932 9361932 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:9361932C>T ENST00000456448.1 + 1 327 c.213C>T c.(211-213)tcC>tcT p.S71S NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 GCTCTGACTCCCACCTCCACA 0.572000 20 65 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17613307 17613307 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:17613307C>T ENST00000381869.3 - 2 483 c.10G>A c.(10-12)Gat>Aat p.D4N MTUS1_ENST00000381862.3_Missense_Mutation_p.D4N|MTUS1_ENST00000519263.1_Missense_Mutation_p.D4N|MTUS1_ENST00000262102.6_Missense_Mutation_p.D4N NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 4 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) TCTGAATTATCATCAGTCATC 0.358000 12 49 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28554455 28554455 + Nonsense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:28554455G>A ENST00000452236.2 - 1 657 c.40C>T c.(40-42)Cag>Tag p.Q14* SCAND3_ENST00000530247.1_Intron NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 14 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TCTGGAGCCTGGCCAGCCAAG 0.493000 33 31 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132081914 132081914 + Splice_Site SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:132081914A>T ENST00000374786.1 + 3 879 c.e3-1 NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000427481.2_Splice_Site|NTM_ENST00000474900.1_Splice_Site NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin cell adhesion|neuron recognition anchored to membrane|plasma membrane p.?(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 TTGTTTCCACAGTATCTCCCA 0.383000 8 52 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237586456 237586456 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:237586456T>A ENST00000366574.2 + 12 1230 c.913T>A c.(913-915)Tac>Aac p.Y305N RYR2_ENST00000360064.6_Missense_Mutation_p.Y303N|RYR2_ENST00000542537.1_Missense_Mutation_p.Y289N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 305 MIR 4. 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) AACAGGAAAATACTTGAGTCT 0.438000 116 130 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147259229 147259229 + Splice_Site SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:147259229G>T ENST00000361727.3 + 12 2293 c.e12-1 NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 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) GTTTGTTCTAGCTATCTACGA 0.448000 HNSCC(39;0.1) 23 65 1.28384e-07 1.50832e-07 1 1 0 APBB2 323 broad.mit.edu 37 4 40827944 40827944 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:40827944G>A ENST00000295974.8 - 15 2402 c.1773C>T c.(1771-1773)caC>caT p.H591H APBB2_ENST00000543538.1_Silent_p.H43H|APBB2_ENST00000513140.1_Silent_p.H569H|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000508593.1_Silent_p.H592H|APBB2_ENST00000506352.1_Silent_p.H570H|APBB2_ENST00000504305.1_Silent_p.H43H|APBB2_ENST00000502841.1_Silent_p.H43H NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 591 PID 2. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 AGTACTGCACGTGGAACTTCT 0.458000 65 66 0 0 1 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33879712 33879712 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:33879712G>C ENST00000307296.3 + 9 1451 c.1074G>C c.(1072-1074)atG>atC p.M358I PDCD6IP_ENST00000457054.2_Missense_Mutation_p.M363I Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 358 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TTGAGAAGATGGTTCCCGTGT 0.373000 5 82 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29634017 29634017 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:29634017C>G ENST00000376894.4 + 3 643 c.525C>G c.(523-525)ttC>ttG p.F175L MOG_ENST00000431798.2_Missense_Mutation_p.F175L|MOG_ENST00000483013.1_Missense_Mutation_p.F59L|MOG_ENST00000416766.2_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.F175L|MOG_ENST00000396701.2_Missense_Mutation_p.F175L|MOG_ENST00000396704.3_Missense_Mutation_p.F175L|MOG_ENST00000494692.1_Missense_Mutation_p.F175L|MOG_ENST00000490427.1_Missense_Mutation_p.F59L|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376891.4_Missense_Mutation_p.F175L|MOG_ENST00000376888.2_Missense_Mutation_p.F59L|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376917.3_Missense_Mutation_p.F175L Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 175 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 GCCTCATCTTCCTCTGCCTGC 0.547000 34 144 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176951843 176951843 + Silent SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:176951843A>G ENST00000329540.5 - 9 3346 c.517T>C c.(517-519)Tta>Cta p.L173L FAM193B_ENST00000443375.2_Silent_p.L514L|FAM193B_ENST00000514747.1_Silent_p.L547L Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 223 kidney(1)|large_intestine(3) 4 GGAGCTTGTAACGTGTGGTTC 0.622000 3 14 0 0 1 0 0 ANGPTL3 27329 broad.mit.edu 37 1 63064423 63064423 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:63064423C>A ENST00000371129.3 + 2 632 c.552C>A c.(550-552)gaC>gaA p.D184E DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron NM_014495.2 NP_055310.1 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 184 acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity p.D184E(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1) 13 CCGTGGAAGACCAATATAAAC 0.348000 25 42 1.68575e-08 2.0202e-08 1 1 0 TCTEX1D1 200132 broad.mit.edu 37 1 67220360 67220360 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:67220360G>A ENST00000282670.2 + 2 147 c.19G>A c.(19-21)Gct>Act p.A7T TCTEX1D1_ENST00000491611.1_3'UTR NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 7 large_intestine(2)|lung(10)|skin(1) 13 GTCAGACAATGCTAAAGGCAG 0.363000 20 11 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1559062 1559062 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:1559062A>T ENST00000357210.4 + 3 620 c.404A>T c.(403-405)tAc>tTc p.Y135F MIB2_ENST00000512004.1_Intron|MIB2_ENST00000378708.1_Missense_Mutation_p.Y77F|MIB2_ENST00000505820.2_Missense_Mutation_p.Y192F|MIB2_ENST00000504599.1_Missense_Mutation_p.Y91F|MIB2_ENST00000520777.1_Missense_Mutation_p.Y192F|MIB2_ENST00000518681.1_Missense_Mutation_p.Y192F|MIB2_ENST00000378712.1_Missense_Mutation_p.Y77F|MIB2_ENST00000360522.4_Missense_Mutation_p.Y135F|MIB2_ENST00000355826.5_Missense_Mutation_p.Y178F|MIB2_ENST00000378710.3_Missense_Mutation_p.Y135F NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 135 MIB/HERC2 1. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 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)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGCTGCTGTACGACAACGCC 0.741000 2 2 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70455183 70455183 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:70455183G>T ENST00000503640.1 - 6 1546 c.1491C>A c.(1489-1491)gtC>gtA p.V497V UGT2A1_ENST00000286604.4_Silent_p.V497V|UGT2A1_ENST00000514019.1_Silent_p.V663V|UGT2A2_ENST00000457664.2_Silent_p.V506V|UGT2A1_ENST00000512704.1_Silent_p.V453V NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 497 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TTGTCACACAGACCAGCAAGA 0.428000 27 89 1.12875e-08 1.35814e-08 1 1 0 TUB 7275 broad.mit.edu 37 11 8060507 8060507 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:8060507C>A ENST00000305253.4 + 1 328 c.87C>A c.(85-87)ccC>ccA p.P29P RP11-236J17.6_ENST00000528151.1_RNA|RP11-236J17.6_ENST00000526646.1_RNA|TUB_ENST00000534099.1_Intron NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 0 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) CTCCCTGGCCCATGGGATCTC 0.557000 35 72 3.76114e-14 5.18239e-14 1 1 0 MUC16 94025 broad.mit.edu 37 19 9026276 9026276 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:9026276G>A ENST00000397910.4 - 14 36913 c.36710C>T c.(36709-36711)aCc>aTc p.T12237I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12239 SEA 2. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTTGGTGATGGTGAAGTTGAG 0.502000 65 152 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 10981908 10981908 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:10981908C>A ENST00000304623.8 - 21 3583 c.3394G>T c.(3394-3396)Gct>Tct p.A1132S CTNND2_ENST00000511377.1_Missense_Mutation_p.A1041S|CTNND2_ENST00000458100.2_Missense_Mutation_p.A699S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A795S|CTNND2_ENST00000359640.2_Missense_Mutation_p.A1074S NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1132 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 ATGTCTTCAGCGGGCGCACCA 0.338000 57 101 2.67592e-24 4.36022e-24 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31322891 31322891 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:31322891A>T ENST00000269197.5 + 12 3079 c.3079A>T c.(3079-3081)Agc>Tgc p.S1027C NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1027 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TATAATCAAGAGCCAACCAGT 0.478000 17 27 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47351366 47351366 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:47351366C>G ENST00000426342.1 - 11 2149 c.1403G>C c.(1402-1404)gGa>gCa p.G468A MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.2_Missense_Mutation_p.G697A|MDGA2_ENST00000357362.3_Missense_Mutation_p.G468A|MDGA2_ENST00000399232.2_Missense_Mutation_p.G766A NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 697 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 AATTAATTCTCCCTTTTGAAT 0.373000 14 43 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732507 152732507 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:152732507G>T ENST00000368773.1 + 2 501 c.443G>T c.(442-444)tGc>tTc p.C148F KPRP_ENST00000606109.1_Missense_Mutation_p.C148F NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 148 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TATGTAGAATGCCCAGTCCAG 0.512000 179 185 3.15417e-93 6.0455e-93 1 1 0 PCDHB12 56124 broad.mit.edu 37 5 140590530 140590530 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:140590530A>T ENST00000239450.2 + 1 2240 c.2051A>T c.(2050-2052)gAc>gTc p.D684V PCDHB12_ENST00000541609.1_Missense_Mutation_p.D347V NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 684 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCAGGCCGACTCGCTCACT 0.706000 84 137 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38797450 38797450 + Splice_Site SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:38797450C>A ENST00000449082.2 - 10 1290 c.e10-1 NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTGCTAGCACCTGCGAAGAGA 0.488000 47 73 6.48837e-15 9.19441e-15 1 1 0 EHD2 30846 broad.mit.edu 37 19 48220014 48220014 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:48220014G>T ENST00000263277.3 + 2 396 c.145G>T c.(145-147)Gcc>Tcc p.A49S EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 49 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding p.A49T(1) endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) CCACTCGCCGGCCCTGGAGGA 0.662000 8 22 0.000274275 0.000295525 1 1 0 SHCBP1L 81626 broad.mit.edu 37 1 182922031 182922031 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:182922031C>A ENST00000367547.3 - 1 474 c.238G>T c.(238-240)Gac>Tac p.D80Y SHCBP1L_ENST00000488956.1_5'UTR NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 152 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TCTCCCGTGTCCTCGGCCTGA 0.761000 5 14 0.000602214 0.000639652 1 1 0 PRR14L 253143 broad.mit.edu 37 22 32108337 32108337 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:32108337C>A ENST00000327423.6 - 4 5677 c.5488G>T c.(5488-5490)Gga>Tga p.G1830* PRR14L_ENST00000434485.1_Nonsense_Mutation_p.G1830*|PRR14L_ENST00000397493.2_Nonsense_Mutation_p.G1830* NM_173566.2 NP_775837.2 Q5THK1 PR14L_HUMAN proline rich 14-like 1830 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 CGGTAACATCCTGGGGAACAA 0.522000 8 23 1.06961e-07 1.26409e-07 1 1 0 PTGER4 5734 broad.mit.edu 37 5 40692160 40692160 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:40692160C>A ENST00000302472.3 + 3 2171 c.1147C>A c.(1147-1149)Cgg>Agg p.R383R NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 383 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CTTCATCTCCCGGGAGCTGAA 0.587000 30 58 1.2476e-16 1.82859e-16 1 1 0 RYR2 6262 broad.mit.edu 37 1 237711866 237711866 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:237711866G>T ENST00000366574.2 + 26 3359 c.3042G>T c.(3040-3042)caG>caT p.Q1014H RYR2_ENST00000360064.6_Missense_Mutation_p.Q1012H|RYR2_ENST00000542537.1_Missense_Mutation_p.Q998H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1014 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) GAATCCGGCAGGGCTGGACTT 0.453000 8 61 1.12685e-05 1.25955e-05 1 1 0 GPR45 11250 broad.mit.edu 37 2 105858853 105858853 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:105858853C>A ENST00000258456.1 + 1 654 c.538C>A c.(538-540)Cca>Aca p.P180T NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 180 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 GGCGCGGGCCCCACAGTGCGT 0.692000 12 25 7.03913e-09 8.55569e-09 1 1 0 SPO11 23626 broad.mit.edu 37 20 55910931 55910931 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:55910931T>A ENST00000371263.3 + 8 821 c.712T>A c.(712-714)Tgc>Agc p.C238S SPO11_ENST00000345868.4_Missense_Mutation_p.C200S|SPO11_ENST00000371260.4_Missense_Mutation_p.C196S NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 238 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) TGACAACTTTTGCAACAAATT 0.328000 Editing and processing nucleases 24 53 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14105507 14105507 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:14105507G>A ENST00000235372.7 + 8 2073 c.1217G>A c.(1216-1218)cGg>cAg p.R406Q PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R205Q|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R406Q|PRDM2_ENST00000343137.4_Missense_Mutation_p.R205Q|PRDM2_ENST00000376048.5_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 406 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ATTAACCGGCGGCGACATGAG 0.517000 14 75 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42354680 42354680 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:42354680G>T ENST00000269945.3 + 8 954 c.903G>T c.(901-903)ctG>ctT p.L301L DMRTC2_ENST00000596827.1_Silent_p.L352L NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 301 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 TCGTGGGGCTGAAAGATTCAT 0.642000 18 42 9.16793e-09 1.10533e-08 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22661318 22661318 + RNA SNP T T C rs1044437 by1000genomes TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:22661318T>C ENST00000426066.1 + 0 360 NR_027293.1 TGTGTAGAACTTTGACCCCCG 0.488000 4 47 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43679524 43679524 + Silent SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:43679524T>C ENST00000404580.1 - 4 895 c.807A>G c.(805-807)gcA>gcG p.A269A PSG5_ENST00000407356.1_Silent_p.A269A|PSG5_ENST00000342951.6_Silent_p.A269A|PSG5_ENST00000599812.1_Silent_p.A362A|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Silent_p.A269A Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 269 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) AAAAATACTCTGCCGGTGGGT 0.458000 128 260 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5033026 5033026 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:5033026G>T ENST00000159111.4 + 3 343 c.125G>T c.(124-126)cGg>cTg p.R42L KDM4B_ENST00000536461.1_Missense_Mutation_p.R42L|KDM4B_ENST00000381759.4_Missense_Mutation_p.R42L NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 42 JmjN. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GGAGCCCACCGGGCGGGCCTG 0.617000 62 127 8.72158e-25 1.42717e-24 1 1 0 CTNNA1 1495 broad.mit.edu 37 5 138266206 138266206 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:138266206G>A ENST00000302763.7 + 15 2145 c.2055G>A c.(2053-2055)gcG>gcA p.A685A CTNNA1_ENST00000355078.5_Silent_p.A582A|CTNNA1_ENST00000518825.1_Silent_p.A685A|CTNNA1_ENST00000540387.1_Silent_p.A315A NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 685 A -> R (in Ref. 3; AAA86430/AAA18949). adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CGAAGATTGCGGAACAGGTGG 0.483000 34 59 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97888342 97888342 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:97888342G>C ENST00000356526.2 + 1 799 c.799G>C c.(799-801)Gca>Cca p.A267P NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 ATCTCCGCAAGCAGATGGTCA 0.433000 24 74 0 0 1 0 0 CDKN2B 1030 broad.mit.edu 37 9 22006055 22006055 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:22006055G>A ENST00000276925.6 - 2 757 c.348C>T c.(346-348)ccC>ccT p.P116P CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA NM_004936.3|NM_078487.2 NP_004927.2|NP_511042.1 P42772 CDN2B_HUMAN cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 116 cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0(1)|p.0?(1) lung(2) 2 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143) CCAAGTCCACGGGCAGACGAC 0.721000 12 23 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 5 57 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42531601 42531601 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:42531601C>A ENST00000282030.5 + 4 2592 c.2296C>A c.(2296-2298)Cag>Aag p.Q766K NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 766 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TTCCAACTTTCAGTCACTTGT 0.552000 Schinzel-Giedion syndrome 13 64 2.61681e-11 3.35806e-11 1 1 0 TIAM2 26230 broad.mit.edu 37 6 155486469 155486469 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:155486469G>C ENST00000461783.3 + 11 3560 c.2287G>C c.(2287-2289)Gga>Cga p.G763R TIAM2_ENST00000360366.4_Missense_Mutation_p.G763R|TIAM2_ENST00000528391.2_Missense_Mutation_p.G75R|TIAM2_ENST00000318981.5_Missense_Mutation_p.G763R|TIAM2_ENST00000529824.2_Missense_Mutation_p.G763R|TIAM2_ENST00000367174.2_Missense_Mutation_p.G115R|TIAM2_ENST00000456144.1_Missense_Mutation_p.G763R|TIAM2_ENST00000456877.2_Missense_Mutation_p.G75R Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 763 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AAACAAGAAGGGAATATTTTC 0.433000 26 26 0 0 1 0 0 TRBV29-1 28558 broad.mit.edu 37 7 142448495 142448495 + RNA SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:142448495G>T ENST00000422143.2 + 0 156 ATCTGTCAACGTGGAACCTCC 0.512000 32 76 2.48696e-23 4.00863e-23 1 1 0 BTBD17 388419 broad.mit.edu 37 17 72353265 72353265 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:72353265G>A ENST00000375366.3 - 3 1094 c.968C>T c.(967-969)gCc>gTc p.A323V NM_001080466.1 NP_001073935.1 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 323 extracellular region endometrium(1)|kidney(1)|lung(4) 6 GACCCACGGGGCGCCCCAGGC 0.716000 8 8 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44590787 44590787 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:44590787C>G ENST00000421176.3 + 5 1372 c.1156C>G c.(1156-1158)Ctt>Gtt p.L386V ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) GTCCTCATGTCTTTCAAGACA 0.438000 48 88 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141294257 141294257 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:141294257G>T ENST00000389484.3 - 46 8506 c.7535C>A c.(7534-7536)gCt>gAt p.A2512D NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2512 LDL-receptor class A 11. 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) CTCCGAATAAGCGTTGCAGGA 0.353000 TSP Lung(27;0.18) 23 69 2.89027e-11 3.69312e-11 1 1 0 TRPA1 8989 broad.mit.edu 37 8 72938258 72938258 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:72938258G>T ENST00000262209.4 - 25 3195 c.2988C>A c.(2986-2988)cgC>cgA p.R996R RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 996 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GATCCACTTTGCGTAGAAACC 0.378000 37 34 8.16904e-11 1.03498e-10 1 1 0 DNAAF3 352909 broad.mit.edu 37 19 55672063 55672063 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:55672063C>A ENST00000527223.2 - 9 1198 c.1197G>T c.(1195-1197)ggG>ggT p.G399G CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Silent_p.G277G|DNAAF3_ENST00000524407.2_Silent_p.G331G|DNAAF3_ENST00000391720.4_Silent_p.G378G NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 331 CCAGGTCCCCCCCGGTGGCTC 0.677000 OREG0025678 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 86 8.01111e-26 1.33444e-25 1 1 0 ZNF831 128611 broad.mit.edu 37 20 57768035 57768035 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:57768035C>A ENST00000371030.2 + 1 1961 c.1961C>A c.(1960-1962)gCa>gAa p.A654E NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 654 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGCAGTGGGGCAGAACTGGGC 0.577000 25 50 1.55469e-16 2.27312e-16 1 1 0 AREL1 9870 broad.mit.edu 37 14 75142850 75142850 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:75142850G>A ENST00000356357.4 - 7 1341 c.826C>T c.(826-828)Cta>Tta p.L276L AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 TTACCACTTAGGACAATAATG 0.393000 26 58 0 0 1 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149001340 149001340 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:149001340G>T ENST00000333677.6 + 9 1213 c.1050G>T c.(1048-1050)ctG>ctT p.L350L NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 350 BAR. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 TGTGCAGCCTGGCCAAAGCCC 0.607000 38 83 2.37825e-27 4.02887e-27 1 1 0 NDST4 64579 broad.mit.edu 37 4 115997578 115997578 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:115997578G>T ENST00000264363.2 - 2 1293 c.615C>A c.(613-615)acC>acA p.T205T NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 205 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TGGGGGCTTTGGTAATATGCA 0.398000 18 94 3.51602e-12 4.61092e-12 1 1 0 DENND4B 9909 broad.mit.edu 37 1 153904858 153904858 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:153904858C>T ENST00000361217.4 - 24 4236 c.3818G>A c.(3817-3819)cGt>cAt p.R1273H DENND4B_ENST00000474386.1_Intron NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1273 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) CAGCTCCTTACGCAGCACCAG 0.612000 4 40 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 87968555 87968555 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:87968555A>T ENST00000307808.6 + 3 1267 c.847A>T c.(847-849)Agt>Tgt p.S283C AFF1_ENST00000395146.4_Missense_Mutation_p.S290C|AFF1_ENST00000544085.1_Intron NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 283 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CCCCTCAAAAAGTGTTGCAAT 0.557000 90 109 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113303893 113303893 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:113303893G>T ENST00000297405.5 - 56 9064 c.8820C>A c.(8818-8820)gcC>gcA p.A2940A CSMD3_ENST00000352409.3_Silent_p.A2870A|CSMD3_ENST00000343508.3_Silent_p.A2900A|CSMD3_ENST00000455883.2_Silent_p.A2771A NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2940 Sushi 20. 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 TTTTAGAATTGGCTGGAATTC 0.299000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 101 8.88839e-20 1.35593e-19 1 1 0 SRRM2 23524 broad.mit.edu 37 16 2817109 2817109 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:2817109C>T ENST00000301740.8 + 11 7129 c.6580C>T c.(6580-6582)Cgg>Tgg p.R2194W NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2194 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TGGCACCGCTCGGCCTCCTCC 0.577000 24 92 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109347872 109347872 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:109347872A>G ENST00000283195.6 + 4 473 c.347A>G c.(346-348)tAc>tGc p.Y116C NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 116 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AGAGCAAAATACTGGCTTGAA 0.343000 84 147 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23543874 23543874 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:23543874C>A ENST00000300619.7 - 4 2112 c.1907G>T c.(1906-1908)gGc>gTc p.G636V ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G604V NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 636 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) AAAAGCTTTGCCACATTCTTC 0.393000 38 74 2.5098e-30 4.33775e-30 1 1 0 FLT3 2322 broad.mit.edu 37 13 28636181 28636181 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr13:28636181C>A ENST00000380982.4 - 3 272 c.191G>T c.(190-192)gGg>gTg p.G64V FLT3_ENST00000537084.1_Missense_Mutation_p.G64V|FLT3_ENST00000241453.7_Missense_Mutation_p.G64V P36888 FLT3_HUMAN fms-related tyrosine kinase 3 64 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CAACGCACACCCGAGGTCTTC 0.517000 """Mis, O""" """AML, ALL""" 37 66 3.61848e-18 5.36935e-18 1 1 0 IGHV1-24 28467 broad.mit.edu 37 14 106733361 106733361 + RNA SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:106733361C>A ENST00000390610.2 - 0 193 GAGGGTGTATCCGGAAACCTT 0.562000 83 271 1.45978e-39 2.66957e-39 1 1 0 XYLT1 64131 broad.mit.edu 37 16 17228583 17228583 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:17228583G>T ENST00000261381.6 - 9 1858 c.1774C>A c.(1774-1776)Cgg>Agg p.R592R CTD-2576D5.4_ENST00000567344.1_RNA NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 592 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AAGGTAGGCCGGGCTGTCTGC 0.522000 104 100 4.49162e-49 8.44651e-49 1 1 0 ISLR 3671 broad.mit.edu 37 15 74467872 74467872 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr15:74467872C>T ENST00000249842.3 + 2 1030 c.673C>T c.(673-675)Ccg>Tcg p.P225S ISLR_ENST00000395118.1_Missense_Mutation_p.P225S|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 225 LRRCT. cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GAGCCGCCTGCCGCCACTGCC 0.657000 6 38 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92461848 92461848 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:92461848C>A ENST00000267622.4 - 14 5277 c.4904G>T c.(4903-4905)aGt>aTt p.S1635I NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1635 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TACCTGCACACTGGCTTGATG 0.393000 T PDGFRB AML 20 47 4.35082e-09 5.29896e-09 1 1 0 ATF7IP 55729 broad.mit.edu 37 12 14577231 14577231 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:14577231G>T ENST00000544627.1 + 2 726 c.406G>T c.(406-408)Gaa>Taa p.E136* ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.E128*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.E128*|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.E128*|ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.E128* Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 128 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding p.E128*(1) cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 ACTGCCTGCTGAACCAGTTTC 0.483000 47 33 2.51966e-14 3.52046e-14 1 1 0 RYR1 6261 broad.mit.edu 37 19 38956781 38956781 + Missense_Mutation SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:38956781T>C ENST00000355481.4 + 24 3052 c.2921T>C c.(2920-2922)gTg>gCg p.V974A RYR1_ENST00000359596.3_Missense_Mutation_p.V974A|RYR1_ENST00000360985.3_Missense_Mutation_p.V974A NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 974 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|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) CTGAGCCACGTGCGGCTGACG 0.652000 6 16 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476617 120476617 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:120476617G>T ENST00000355622.6 + 3 2312 c.2211G>T c.(2209-2211)gtG>gtT p.V737V TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.V697V NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 737 TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 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 NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|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|T-helper 1 type immune response|Toll signaling pathway|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 TTGTTGTGGTGTCCCAGCACT 0.483000 10 68 1.76689e-08 2.1132e-08 1 1 0 MEF2D 4209 broad.mit.edu 37 1 156437901 156437901 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:156437901T>A ENST00000348159.4 - 11 1918 c.1438A>T c.(1438-1440)Acg>Tcg p.T480S MEF2D_ENST00000340875.5_Missense_Mutation_p.T479S|MEF2D_ENST00000353795.3_Missense_Mutation_p.T434S|MEF2D_ENST00000360595.3_Missense_Mutation_p.T473S|MEF2D_ENST00000368240.2_Missense_Mutation_p.T473S|MEF2D_ENST00000464356.1_5'UTR NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 480 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGGTCTCCCGTCTCATAGGAT 0.701000 34 102 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51729318 51729318 + Silent SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:51729318C>G ENST00000436584.2 + 2 352 c.297C>G c.(295-297)acC>acG p.T99T CD33_ENST00000421133.2_Silent_p.T99T|CD33_ENST00000262262.4_Silent_p.T226T|CD33_ENST00000391796.3_Silent_p.T226T P20138 CD33_HUMAN CD33 molecule 226 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CGGAGAGAACCATCCAGCTCA 0.602000 18 37 0 0 1 0 0 BEND6 221336 broad.mit.edu 37 6 56846632 56846632 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:56846632T>A ENST00000370748.3 + 2 459 c.24T>A c.(22-24)gaT>gaA p.D8E BEND6_ENST00000370746.3_Missense_Mutation_p.D8E|BEND6_ENST00000370745.1_Missense_Mutation_p.D8E|BEND6_ENST00000370750.2_Missense_Mutation_p.D8E Q5SZJ8 BEND6_HUMAN BEN domain containing 6 8 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 TGCAGACAGATGAAATTACCA 0.378000 31 102 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 123988583 123988583 + Splice_Site SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:123988583G>T ENST00000456829.2 + 4 497 c.e4+1 VWA5A_ENST00000392748.1_Splice_Site|VWA5A_ENST00000361352.5_Splice_Site|VWA5A_ENST00000392744.4_Splice_Site|VWA5A_ENST00000360334.4_Splice_Site|VWA5A_ENST00000449321.1_Splice_Site NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 CAAGATGAAGGTAGTAGAGAT 0.393000 32 49 2.61193e-14 3.62398e-14 1 1 0 OR2G3 81469 broad.mit.edu 37 1 247769538 247769538 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:247769538C>A ENST00000320002.2 + 1 683 c.651C>A c.(649-651)tcC>tcA p.S217S RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 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) TCTCCATCTCCTATGGCTTCA 0.453000 38 132 2.05212e-20 3.17097e-20 1 1 0 ACTBL2 345651 broad.mit.edu 37 5 56778011 56778011 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:56778011G>T ENST00000423391.1 - 1 625 c.524C>A c.(523-525)gCc>gAc p.A175D CTD-2023N9.1_ENST00000506106.1_RNA NM_001017992.3 NP_001017992.1 Q562R1 ACTBL_HUMAN actin, beta-like 2 175 cytoplasm|cytoskeleton ATP binding breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) GCGTAGAATGGCATGAGGCAG 0.552000 36 66 6.05902e-23 9.71392e-23 1 1 0 USP47 55031 broad.mit.edu 37 11 11954630 11954630 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:11954630G>C ENST00000339865.5 + 14 2290 c.1527G>C c.(1525-1527)aaG>aaC p.K509N USP47_ENST00000527733.1_Missense_Mutation_p.K577N|USP47_ENST00000399455.2_Missense_Mutation_p.K597N|USP47_ENST00000539466.1_5'UTR NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 597 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) AACAAGAAAAGAGACAACGAG 0.328000 17 31 0 0 1 0 0 ZNF221 7638 broad.mit.edu 37 19 44469456 44469456 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:44469456A>T ENST00000251269.5 + 5 608 c.280A>T c.(280-282)Agc>Tgc p.S94C ZNF221_ENST00000587682.1_Missense_Mutation_p.S94C|ZNF221_ENST00000592350.1_Missense_Mutation_p.S94C NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 94 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) GAAGACAACAAGCCAAAGAGA 0.413000 33 57 0 0 1 0 0 REG1P 5969 broad.mit.edu 37 2 79364418 79364418 + RNA SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:79364418C>T ENST00000444841.1 - 0 216 GCACTGGTGCCTTCTGGGCAG 0.537000 9 22 0 0 1 0 0 ZNF169 169841 broad.mit.edu 37 9 97062180 97062180 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:97062180G>T ENST00000395395.2 + 5 430 c.340G>T c.(340-342)Ggc>Tgc p.G114C ZNF169_ENST00000340911.4_3'UTR NM_194320.2 NP_919301.2 Q14929 ZN169_HUMAN zinc finger protein 169 114 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) TGCGCTAAGTGGCCATCCCAC 0.498000 21 69 6.21321e-17 9.15148e-17 1 1 0 TMEM74B 55321 broad.mit.edu 37 20 1161657 1161657 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:1161657G>T ENST00000381894.3 - 2 1277 c.606C>A c.(604-606)ggC>ggA p.G202G NM_018354.1 NP_060824.1 Q9NUR3 CT046_HUMAN transmembrane protein 74B 202 integral to membrane protein binding GGTACAGCTCGCCCTTGCACA 0.647000 24 39 1.66031e-10 2.08585e-10 1 1 0 FMNL3 91010 broad.mit.edu 37 12 50045884 50045884 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:50045884C>A ENST00000335154.5 - 14 1668 c.1435G>T c.(1435-1437)Gag>Tag p.E479* FMNL3_ENST00000352151.5_Nonsense_Mutation_p.E428*|FMNL3_ENST00000293590.5_Nonsense_Mutation_p.E479*|FMNL3_ENST00000550488.1_Nonsense_Mutation_p.E479* NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 479 actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 TCCACAGACTCCAGGCCCCGG 0.622000 13 17 4.36969e-10 5.39892e-10 1 1 0 NRCAM 4897 broad.mit.edu 37 7 107790357 107790357 + Nonstop_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:107790357A>T ENST00000379028.3 - 33 4383 c.3913T>A c.(3913-3915)Taa>Aaa p.*1305K NRCAM_ENST00000413765.2_Nonstop_Mutation_p.*1181K|NRCAM_ENST00000425651.2_Nonstop_Mutation_p.*1305K|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000351718.4_Nonstop_Mutation_p.*1184K|NRCAM_ENST00000379024.4_Nonstop_Mutation_p.*1193K Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 0 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CTTAAAAATTAAACAAAGGAA 0.398000 84 114 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63221303 63221303 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:63221303G>T ENST00000449996.3 + 18 1654 c.1582G>T c.(1582-1584)Gag>Tag p.E528* RGS9_ENST00000443584.3_Nonsense_Mutation_p.E528*|RGS9_ENST00000262406.9_Nonsense_Mutation_p.E531* NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 531 RVALE -> LVVLD (in Ref. 7; AAC25430). intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 AGTGGCCTTGGAGAGCTCATC 0.677000 105 109 9.07443e-57 1.72819e-56 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176564197 176564197 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:176564197C>A ENST00000367662.3 + 3 2621 c.1457C>A c.(1456-1458)cCa>cAa p.P486Q PAPPA2_ENST00000367661.3_Missense_Mutation_p.P486Q NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 486 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.P486Q(2)|p.P486H(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGCTTTGAGCCAGAGCCTGAG 0.527000 29 126 2.36697e-06 2.68078e-06 1 1 0 MUC16 94025 broad.mit.edu 37 19 9075111 9075111 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:9075111G>T ENST00000397910.4 - 3 12538 c.12335C>A c.(12334-12336)aCa>aAa p.T4112K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4114 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGGCTGATGTATCCAAAGT 0.483000 34 66 8.4185e-14 1.15465e-13 1 1 0 BEST4 266675 broad.mit.edu 37 1 45251771 45251771 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:45251771T>A ENST00000372207.3 - 4 610 c.611A>T c.(610-612)gAt>gTt p.D204V NM_153274.2 NP_695006.1 Q8NFU0 BEST4_HUMAN bestrophin 4 204 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) GAGAGCGATATCGTCACGTAT 0.507000 OREG0013447 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 110 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038174 62038174 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:62038174C>A ENST00000354587.3 - 17 2642 c.2466G>T c.(2464-2466)ctG>ctT p.L822L KCNQ2_ENST00000359125.2_Silent_p.L814L|KCNQ2_ENST00000357249.2_Silent_p.L796L|KCNQ2_ENST00000370224.1_Silent_p.L822L|KCNQ2_ENST00000344462.3_Silent_p.L810L|KCNQ2_ENST00000370226.1_Silent_p.L784L|KCNQ2_ENST00000430658.1_Silent_p.L783L|KCNQ2_ENST00000359689.1_Silent_p.L814L|KCNQ2_ENST00000360480.3_Silent_p.L786L O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 814 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TGAGAGCATCCAGGTTCTCCT 0.622000 7 17 0.000157383 0.000170499 1 1 0 KCNJ12 3768 broad.mit.edu 37 17 21318754 21318754 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:21318754G>T ENST00000583088.1 + 3 995 c.100G>T c.(100-102)Ggc>Tgc p.G34C KCNJ12_ENST00000331718.5_Missense_Mutation_p.G34C NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CTTCGGCAACGGCAAGGTGCA 0.632000 Prostate(3;0.18) 4 43 0.150653 0.152438 1 1 0 AXIN2 8313 broad.mit.edu 37 17 63545705 63545705 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:63545705C>T ENST00000307078.5 - 3 1202 c.889G>A c.(889-891)Gcc>Acc p.A297T CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.A297T NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 297 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 CTGTCGTTGGCGCTGGTGGCT 0.517000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 4 17 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39279840 39279840 + Missense_Mutation SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:39279840T>C ENST00000394014.1 - 1 579 c.535A>G c.(535-537)Act>Gct p.T179A NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 179 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CGATAGCAAGTGGTGTGGCAG 0.607000 8 8 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6896449 6896449 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:6896449C>A ENST00000312053.4 + 3 172 c.135C>A c.(133-135)gcC>gcA p.A45A EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381407.5_Silent_p.A45A|EMR1_ENST00000381404.4_Silent_p.A45A|EMR1_ENST00000250572.8_Silent_p.A45A|EMR1_ENST00000450315.3_Silent_p.A45A NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 45 EGF-like 1. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CAGCTTATGCCACCTGCACCA 0.458000 65 130 1.77791e-30 3.08172e-30 1 1 0 PIK3CG 5294 broad.mit.edu 37 7 106526602 106526602 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:106526602C>A ENST00000359195.3 + 10 3205 c.2895C>A c.(2893-2895)ttC>ttA p.F965L PIK3CG_ENST00000440650.2_Missense_Mutation_p.F965L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.F965L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 965 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.F965F(1) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ATATTGACTTCGGGCACATTC 0.388000 16 48 2.31682e-05 2.56567e-05 1 1 0 LRRK2 120892 broad.mit.edu 37 12 40681166 40681166 + Silent SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:40681166A>G ENST00000298910.7 + 20 2572 c.2514A>G c.(2512-2514)acA>acG p.T838T LRRK2_ENST00000343742.2_Silent_p.T838T NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 838 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TAGCATCTACACTAGCAAGAA 0.363000 16 43 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42797515 42797515 + Nonsense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:42797515G>T ENST00000314073.5 + 6 1620 c.1444G>T c.(1444-1446)Gga>Tga p.G482* GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.G482* GLTSCR1-like TGCTGCCTCTGGAAGTCCAGT 0.517000 70 87 3.37205e-40 6.20457e-40 1 1 0 COPA 1314 broad.mit.edu 37 1 160293231 160293231 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:160293231C>A ENST00000241704.7 - 8 925 c.696G>T c.(694-696)tgG>tgT p.W232C COPA_ENST00000368069.3_Missense_Mutation_p.W232C NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 232 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) CATTCATGCGCCAGATCTTCA 0.488000 32 48 3.90053e-15 5.54042e-15 1 1 0 PLXNC1 10154 broad.mit.edu 37 12 94692549 94692549 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:94692549G>C ENST00000258526.4 + 27 4465 c.4216G>C c.(4216-4218)Gta>Cta p.V1406L PLXNC1_ENST00000545312.1_Missense_Mutation_p.V145L|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V453L NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1406 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TCCTGACGTCGTACATATTTG 0.363000 20 57 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48445962 48445962 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:48445962C>G ENST00000358536.4 - 38 6608 c.6339G>C c.(6337-6339)caG>caC p.Q2113H PLXNB1_ENST00000448774.2_Missense_Mutation_p.Q724H|PLXNB1_ENST00000456774.1_Missense_Mutation_p.Q1930H|PLXNB1_ENST00000296440.6_Missense_Mutation_p.Q2113H|PLXNB1_ENST00000358459.4_Missense_Mutation_p.Q1930H NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 2113 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCTGCATCTTCTGGGCCGTGC 0.537000 8 23 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5067933 5067933 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:5067933C>A ENST00000380370.1 + 1 178 c.178C>A c.(178-180)Ccc>Acc p.P60T NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTCCGGGAGCCCATGTTCTA 0.507000 37 57 1.07637e-12 1.43676e-12 1 1 0 MAST2 23139 broad.mit.edu 37 1 46468496 46468496 + Missense_Mutation SNP T T G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:46468496T>G ENST00000361297.2 + 7 971 c.688T>G c.(688-690)Tct>Gct p.S230A MAST2_ENST00000372009.2_Missense_Mutation_p.S230A|MAST2_ENST00000372008.1_Missense_Mutation_p.S115A NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 230 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GCGGCGCTGGTCTTTGGCCTC 0.493000 40 87 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216420087 216420087 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:216420087C>T ENST00000366943.2 - 13 3035 c.2649G>A c.(2647-2649)gaG>gaA p.E883E USH2A_ENST00000307340.3_Silent_p.E883E|USH2A_ENST00000366942.3_Silent_p.E883E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 883 Laminin EGF-like 7. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACCTGTGAGGCTCACACTGAT 0.438000 HNSCC(13;0.011) 145 332 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091247 74091247 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:74091247C>A ENST00000443185.2 - 4 3140 c.2823G>T c.(2821-2823)gcG>gcT p.A941A ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 941 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCGAGGGCTGCGCGCCAGCCC 0.697000 15 44 6.31663e-08 7.49473e-08 1 1 0 CYP26C1 340665 broad.mit.edu 37 10 94828426 94828426 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:94828426C>T ENST00000285949.5 + 6 1541 c.1541C>T c.(1540-1542)tCg>tTg p.S514L NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 514 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) CTCACGCCTTCGGTTGCGGGG 0.677000 4 6 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140762682 140762682 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:140762682G>T ENST00000518325.1 + 1 216 c.216G>T c.(214-216)acG>acT p.T72T PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGTAGGACGCAGCTTTTCG 0.637000 40 82 6.2361e-21 9.71143e-21 1 1 0 PGK2 5232 broad.mit.edu 37 6 49753951 49753951 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:49753951C>T ENST00000304801.3 - 1 1102 c.950G>A c.(949-951)gGt>gAt p.G317D NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 317 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GCTCTCAGGACCACAGTCCAA 0.473000 38 156 0 0 1 0 0 SLC20A2 6575 broad.mit.edu 37 8 42296979 42296979 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:42296979C>A ENST00000342228.3 - 7 1292 c.923G>T c.(922-924)cGg>cTg p.R308L SLC20A2_ENST00000520262.1_Missense_Mutation_p.R308L|SLC20A2_ENST00000520179.1_Missense_Mutation_p.R308L NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 308 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) GTATGCAGCCCGAGGGTGGCT 0.632000 24 56 0.00047179 0.000506518 1 1 0 H1FOO 132243 broad.mit.edu 37 3 129270016 129270016 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:129270016G>A ENST00000324382.2 + 5 879 c.874G>A c.(874-876)Ggg>Agg p.G292R H1FOO_ENST00000503977.1_Missense_Mutation_p.G153R NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 292 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CCCTAAAGCTGGGCAGGGGCC 0.582000 20 61 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50548075 50548075 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:50548075G>T ENST00000595661.1 + 6 870 c.375G>T c.(373-375)ttG>ttT p.L125F ZNF473_ENST00000445728.3_Missense_Mutation_p.L113F|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Missense_Mutation_p.L125F|ZNF473_ENST00000391821.2_Missense_Mutation_p.L125F|CTD-2126E3.3_ENST00000599410.1_RNA Q8WTR7 ZN473_HUMAN zinc finger protein 473 125 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TAGATAGTTTGCTAGGCGATC 0.463000 35 65 8.73648e-17 1.28364e-16 1 1 0 ZNF518B 85460 broad.mit.edu 37 4 10445154 10445154 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:10445154C>A ENST00000326756.3 - 3 3237 c.2799G>T c.(2797-2799)ttG>ttT p.L933F NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 933 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 GACACTTAATCAACTGATCTG 0.433000 35 101 1.836e-18 2.73798e-18 1 1 0 ERV3-1 2086 broad.mit.edu 37 7 64453191 64453191 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:64453191C>G ENST00000394323.2 - 2 714 c.214G>C c.(214-216)Gac>Cac p.D72H NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 72 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 cttcctgggtcacagactgag 0.468000 27 47 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119886981 119886981 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:119886981C>A ENST00000464295.1 - 10 1788 c.1343G>T c.(1342-1344)gGg>gTg p.G448V GPR156_ENST00000315843.3_Missense_Mutation_p.G448V|GPR156_ENST00000461057.1_Missense_Mutation_p.G444V Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 448 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TGAGGAGGGCCCTGAAGTGCA 0.567000 19 28 7.07596e-05 7.74986e-05 1 1 0 ZNF436 80818 broad.mit.edu 37 1 23688985 23688985 + Missense_Mutation SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:23688985T>C ENST00000314011.4 - 4 1026 c.890A>G c.(889-891)tAt>tGt p.Y297C ZNF436_ENST00000374608.3_Missense_Mutation_p.Y297C|ZNF436_ENST00000374609.1_Intron NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GTGGACTCGATAGTGTTTGAT 0.527000 49 98 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44970627 44970627 + Splice_Site SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:44970627G>C ENST00000377967.4 + 29 4218 c.4176_splice c.e29-1 p.A1393_splice KDM6A_ENST00000536777.1_Splice_Site_p.A1348_splice|KDM6A_ENST00000543216.1_Splice_Site_p.A1314_splice|KDM6A_ENST00000382899.4_Splice_Site_p.A1400_splice NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1393 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TTATTTTCAGGCTCCTCCATT 0.373000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 45 33 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6648429 6648429 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:6648429G>A ENST00000299441.3 - 14 6252 c.5841C>T c.(5839-5841)acC>acT p.T1947T NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1947 Cadherin 18. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCACCGTGATGGTGACAGACA 0.612000 24 49 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169528503 169528503 + Silent SNP C C A rs149072504 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:169528503C>A ENST00000367796.3 - 5 819 c.618G>T c.(616-618)acG>acT p.T206T F5_ENST00000367797.3_Silent_p.T206T|F5_ENST00000546081.1_Silent_p.T69T P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 206 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GCTTGTCAAACGTCTTCTGTG 0.443000 13 164 9.31168e-06 1.04473e-05 1 1 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458742 45458742 + RNA SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:45458742G>T ENST00000548424.1 + 0 448 GCTGCTGGATGGTTGGCCTCT 0.428000 12 36 2.27111e-07 2.64226e-07 1 1 0 KCNJ9 3765 broad.mit.edu 37 1 160054370 160054370 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:160054370G>A ENST00000368088.3 + 2 792 c.550G>A c.(550-552)Ggg>Agg p.G184R NM_004983.2 NP_004974.2 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel, subfamily J, member 9 184 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCTGCGCGACGGGCGCCTCTG 0.662000 9 36 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56504401 56504401 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr6:56504401G>A ENST00000370754.5 - 20 2606 c.2607C>T c.(2605-2607)tcC>tcT p.S869S DST_ENST00000244364.6_Silent_p.S365S|DST_ENST00000446842.2_Silent_p.S365S|DST_ENST00000361203.3_Silent_p.S691S|DST_ENST00000421834.2_Silent_p.S691S|DST_ENST00000370769.4_Silent_p.S691S|DST_ENST00000370788.2_Silent_p.S691S|DST_ENST00000370765.6_Silent_p.S365S|DST_ENST00000312431.6_Silent_p.S691S|DST_ENST00000518935.1_Silent_p.S365S Q03001 DYST_HUMAN dystonin 691 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTTGATTCCTGGATGTATTCT 0.328000 57 90 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148899834 148899834 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:148899834C>T ENST00000264613.6 - 14 2774 c.2512G>A c.(2512-2514)Ggg>Agg p.G838R NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 838 F5/8 type A 3.|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GTTTGTACCCCATGGGCATGT 0.473000 36 104 0 0 1 0 0 HAAO 23498 broad.mit.edu 37 2 43019654 43019654 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:43019654C>A ENST00000294973.6 - 1 78 c.23G>T c.(22-24)aGg>aTg p.R8M NM_012205.2 NP_036337.2 P46952 3HAO_HUMAN 3-hydroxyanthranilate 3,4-dioxygenase 8 Domain A (catalytic) (By similarity). neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process cytosol|soluble fraction 3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2) 11 CACCCAGGCCCTCACTCCCAG 0.706000 22 40 5.26018e-13 7.08465e-13 1 1 0 CHGA 1113 broad.mit.edu 37 14 93398735 93398735 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:93398735G>A ENST00000216492.5 + 7 1109 c.829G>A c.(829-831)Gtg>Atg p.V277M CHGA_ENST00000334654.4_Missense_Mutation_p.V126M NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 277 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) GGCTCTGGCTGTGGATGGAGC 0.642000 3 4 0 0 1 0 0 PGRMC2 10424 broad.mit.edu 37 4 129208545 129208545 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:129208545C>A ENST00000520121.1 - 1 1439 c.473G>T c.(472-474)aGc>aTc p.S158I PGRMC2_ENST00000512483.1_Intron|PGRMC2_ENST00000296425.5_Missense_Mutation_p.S134I NM_006320.4 NP_006311.2 progesterone receptor membrane component 2 GTAGAACTTGCTGCCTTTGGT 0.652000 7 17 0.00307968 0.00319731 1 1 0 SLC12A2 6558 broad.mit.edu 37 5 127466899 127466899 + Splice_Site SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:127466899G>T ENST00000262461.2 + 5 1377 c.e5+1 SLC12A2_ENST00000343225.4_Splice_Site NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTTGCTTAAGGTAATTCACCT 0.428000 52 78 1.35964e-18 2.04802e-18 1 1 0 C11orf65 160140 broad.mit.edu 37 11 108277822 108277822 + Splice_Site SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:108277822C>T ENST00000393084.1 - 4 298 c.e4+1 C11orf65_ENST00000529391.1_Splice_Site|C11orf65_ENST00000525729.1_Intron NM_152587.3 NP_689800.3 Q8NCR3 CK065_HUMAN chromosome 11 open reading frame 65 endometrium(1)|large_intestine(3)|lung(4)|ovary(2) 10 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) TCCATACTTACTCCACCTAAT 0.289000 22 43 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95418721 95418721 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:95418721C>A ENST00000371447.3 + 17 2238 c.2100C>A c.(2098-2100)gcC>gcA p.A700A NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 700 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) AAGAAGAAGCCATCAAATATG 0.323000 23 21 0.000147802 0.000160701 1 1 0 LZTR1 8216 broad.mit.edu 37 22 21336744 21336744 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:21336744G>T ENST00000215739.8 + 1 443 c.84G>T c.(82-84)gtG>gtT p.V28V LZTR1_ENST00000389355.3_Silent_p.V28V|LZTR1_ENST00000479606.1_Intron NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 28 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CCCCGAGCGTGGACTTCGACC 0.711000 3 13 1 1 1 1 0 GRIK3 2899 broad.mit.edu 37 1 37270565 37270565 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:37270565A>T ENST00000373093.4 - 15 2608 c.2588T>A c.(2587-2589)cTg>cAg p.L863Q GRIK3_ENST00000373091.3_Intron Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 0 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CATCCTGTGCAGGCTCCAAGC 0.567000 18 43 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26222421 26222421 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr22:26222421G>A ENST00000335473.7 + 14 2991 c.2741G>A c.(2740-2742)gGc>gAc p.G914D MYO18B_ENST00000536101.1_Missense_Mutation_p.G914D|MYO18B_ENST00000407587.2_Missense_Mutation_p.G914D NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 914 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ATGGCCTCGGGCCTGTACCAG 0.557000 19 90 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14577230 14577230 + Silent SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:14577230T>C ENST00000544627.1 + 2 725 c.405T>C c.(403-405)gcT>gcC p.A135A ATF7IP_ENST00000261168.4_Silent_p.A127A|ATF7IP_ENST00000543189.1_Silent_p.A127A|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Silent_p.A127A|ATF7IP_ENST00000540793.1_Silent_p.A127A Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 127 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 AACTGCCTGCTGAACCAGTTT 0.478000 47 33 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139838901 139838901 + Splice_Site SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr8:139838901C>A ENST00000303045.6 - 6 1415 c.969_splice c.e6+1 p.Q323_splice COL22A1_ENST00000435777.1_Splice_Site_p.Q323_splice NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 323 TSP N-terminal. 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) CTGCCCTTACCTGTGGGATGC 0.527000 HNSCC(7;0.00092) 17 76 7.07596e-05 7.74986e-05 1 1 0 OR13D1 286365 broad.mit.edu 37 9 107457179 107457179 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:107457179C>A ENST00000318763.5 + 1 520 c.477C>A c.(475-477)tgC>tgA p.C159* NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TGGCCATCTGCAACCCACTGA 0.532000 32 112 5.45727e-16 7.90181e-16 1 1 0 SEMA3E 9723 broad.mit.edu 37 7 83095868 83095868 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:83095868T>A ENST00000307792.3 - 4 853 c.386A>T c.(385-387)cAc>cTc p.H129L SEMA3E_ENST00000427262.1_Missense_Mutation_p.H69L NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 129 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GGTCAGAAGGTGTGTCCTGTT 0.383000 33 60 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158223456 158223456 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:158223456G>T ENST00000313708.6 - 9 1088 c.806C>A c.(805-807)cCg>cAg p.P269Q EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.P238Q|EBF1_ENST00000517373.1_Missense_Mutation_p.P261Q NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 269 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding p.P269R(1) HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTTCACTCGGGCTGATGGC 0.458000 T HMGA2 lipoma 7 53 0.0381472 0.038796 1 1 0 SNTG2 54221 broad.mit.edu 37 2 1251197 1251197 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:1251197C>A ENST00000308624.5 + 12 1116 c.987C>A c.(985-987)taC>taA p.Y329* SNTG2_ENST00000407292.1_Nonsense_Mutation_p.Y202* NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 329 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain 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) CGTCCTTCTACGTTTTCAGCA 0.532000 23 48 3.62473e-10 4.49707e-10 1 1 0 KIR2DL1 3802 broad.mit.edu 37 19 55281320 55281320 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:55281320C>A ENST00000336077.6 + 1 58 c.18C>A c.(16-18)gtC>gtA p.V6V CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Silent_p.V6V|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 6 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) TCTTGGTCGTCAGCATGGCGT 0.612000 OREG0003674 type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 20 61 3.5997e-14 4.98292e-14 1 1 0 UGGT2 55757 broad.mit.edu 37 13 96506724 96506724 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr13:96506724C>T ENST00000376747.3 - 35 4084 c.4014G>A c.(4012-4014)gtG>gtA p.V1338V NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1338 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 GATCATGTCTCACAATCTAAA 0.343000 8 23 0 0 1 0 0 DDN 23109 broad.mit.edu 37 12 49391468 49391468 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:49391468A>T ENST00000421952.2 - 2 1212 c.1191T>A c.(1189-1191)caT>caA p.H397Q NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 397 Interaction with ACTN1. dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 GTGTCTGGCTATGGCGGGGCG 0.617000 24 33 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77638085 77638085 + Splice_Site SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:77638085G>T ENST00000461745.1 + 17 3583 c.e17+1 ROBO2_ENST00000332191.8_Splice_Site|ROBO2_ENST00000487694.3_Splice_Site NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AATTATGCTGGTAAGTGACTA 0.393000 33 70 1.61788e-16 2.35974e-16 1 1 0 PGBD2 267002 broad.mit.edu 37 1 249211655 249211655 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:249211655G>T ENST00000355360.4 + 3 389 c.119G>T c.(118-120)cGa>cTa p.R40L PGBD2_ENST00000539153.1_Missense_Mutation_p.R288L|PGBD2_ENST00000329291.5_Missense_Mutation_p.R291L NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 291 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AAGCCTGTGCGACTTGGCTAC 0.552000 155 115 2.78738e-67 5.3254e-67 1 1 0 GRIK4 2900 broad.mit.edu 37 11 120744844 120744844 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:120744844C>A ENST00000527524.2 + 10 1263 c.976C>A c.(976-978)Caa>Aaa p.Q326K RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.Q326K Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 326 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GAACCGGAGCCAAGAGATCGG 0.647000 11 38 9.05144e-12 1.17669e-11 1 1 0 TUBA3C 7278 broad.mit.edu 37 13 19751590 19751590 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr13:19751590G>T ENST00000400113.3 - 4 637 c.533C>A c.(532-534)tCc>tAc p.S178Y NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 178 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CACGGCCGTGGAGACCTGGGG 0.557000 25 139 1.33986e-20 2.07575e-20 1 1 0 NLRP11 204801 broad.mit.edu 37 19 56307507 56307507 + Missense_Mutation SNP C C T rs141720579 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:56307507C>T ENST00000443188.1 - 8 2991 c.2281G>A c.(2281-2283)Gac>Aac p.D761N NLRP11_ENST00000592953.1_Missense_Mutation_p.D662N|NLRP11_ENST00000360133.3_Missense_Mutation_p.D707N|NLRP11_ENST00000589824.2_Missense_Mutation_p.D707N|NLRP11_ENST00000589093.1_Missense_Mutation_p.D761N NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 761 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TTCATCCCGTCGCTCCTCAGC 0.502000 86 158 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81545816 81545816 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:81545816G>C ENST00000548058.1 + 7 1949 c.1039G>C c.(1039-1041)Gga>Cga p.G347R ACSS3_ENST00000548324.1_Missense_Mutation_p.G29R|ACSS3_ENST00000261206.3_Missense_Mutation_p.G346R Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 347 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CTGGGTTGTTGGACATTCCTA 0.303000 40 90 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107431510 107431510 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:107431510G>T ENST00000340010.5 - 5 737 c.553C>A c.(553-555)Ctt>Att p.L185I SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150I NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 185 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 ATTCCAGAAAGCACTGTGACT 0.493000 24 23 6.21321e-17 9.15148e-17 1 1 0 PMS1 5378 broad.mit.edu 37 2 190728561 190728561 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:190728561G>T ENST00000441310.2 + 10 2182 c.1949G>T c.(1948-1950)gGc>gTc p.G650V PMS1_ENST00000447232.2_Intron|PMS1_ENST00000409823.3_Missense_Mutation_p.G611V|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.G474V|PMS1_ENST00000432292.3_Missense_Mutation_p.G474V NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 650 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) CTAAAAGATGGCAGAAAAAAG 0.378000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 48 114 3.2641e-12 4.28996e-12 1 1 0 FAT1 2195 broad.mit.edu 37 4 187524354 187524354 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:187524354T>A ENST00000441802.2 - 19 11535 c.11326A>T c.(11326-11328)Agg>Tgg p.R3776W NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3776 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACCGCTGCCCTGTGGTGGCGG 0.512000 HNSCC(5;0.00058) 3 19 0 0 1 0 0 FMR1 2332 broad.mit.edu 37 X 147014252 147014252 + Translation_Start_Site SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:147014252G>A ENST00000440235.2 + 0 263 FMR1_ENST00000370471.3_Missense_Mutation_p.D284N|FMR1_ENST00000370477.1_Missense_Mutation_p.D284N|FMR1_ENST00000218200.8_Missense_Mutation_p.D284N|FMR1_ENST00000370475.4_Missense_Mutation_p.D284N|FMR1_ENST00000439526.2_Missense_Mutation_p.D284N|FMR1_ENST00000334557.6_Missense_Mutation_p.D284N|FMR1_ENST00000370470.1_Missense_Mutation_p.D284N Q06787 FMR1_HUMAN fragile X mental retardation 1 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(192;6.56e-05) ATTTGCTGAAGATGTAATACA 0.328000 Fragile X syndrome 36 40 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168139308 168139308 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:168139308G>T ENST00000519560.1 - 24 2954 c.2535C>A c.(2533-2535)gaC>gaA p.D845E CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.D845E|SLIT3_ENST00000332966.8_Missense_Mutation_p.D845E NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 845 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGATGTGAGGTCGTTGAAGG 0.458000 20 68 2.39187e-15 3.43007e-15 1 1 0 NEB 4703 broad.mit.edu 37 2 152544861 152544861 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:152544861G>T ENST00000427231.2 - 25 2562 c.2360C>A c.(2359-2361)cCa>cAa p.P787Q NEB_ENST00000604864.1_Missense_Mutation_p.P787Q|NEB_ENST00000603639.1_Missense_Mutation_p.P787Q|NEB_ENST00000172853.10_Missense_Mutation_p.P787Q|NEB_ENST00000397345.3_Missense_Mutation_p.P787Q|NEB_ENST00000409198.1_Missense_Mutation_p.P787Q NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 787 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc 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) AGCATCTGCTGGTATATGGCA 0.383000 15 25 2.23348e-06 2.53921e-06 1 1 0 LCE3D 84648 broad.mit.edu 37 1 152552228 152552228 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:152552228C>A ENST00000368787.3 - 2 241 c.185G>T c.(184-186)cGa>cTa p.R62L NM_032563.1 NP_115952.1 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 62 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) GCGCCGGCATCGGTGGTGGCG 0.687000 71 183 2.17656e-39 3.96823e-39 1 1 0 FAM74A3 728495 broad.mit.edu 37 9 40715819 40715819 + RNA SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:40715819T>A ENST00000604146.1 + 0 158 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AACTGAAAGGTGATCAGACTC 0.547000 7 2 0 0 1 0 0 MMP25 64386 broad.mit.edu 37 16 3100309 3100309 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:3100309C>T ENST00000336577.4 + 4 660 c.423C>T c.(421-423)ctC>ctT p.L141L MMP25_ENST00000570755.1_3'UTR NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 141 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 TGCGGGTCCTCATGAGCTATG 0.632000 14 115 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38651407 38651407 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:38651407G>T ENST00000413689.1 - 7 945 c.752C>A c.(751-753)gCt>gAt p.A251D SCN5A_ENST00000425664.1_Missense_Mutation_p.A251D|SCN5A_ENST00000449557.2_Missense_Mutation_p.A251D|SCN5A_ENST00000423572.2_Missense_Mutation_p.A251D|SCN5A_ENST00000414099.2_Missense_Mutation_p.A251D|SCN5A_ENST00000333535.4_Missense_Mutation_p.A251D|SCN5A_ENST00000451551.2_Missense_Mutation_p.A251D|SCN5A_ENST00000443581.1_Missense_Mutation_p.A251D|SCN5A_ENST00000455624.2_Missense_Mutation_p.A251D|SCN5A_ENST00000450102.2_Missense_Mutation_p.A251D NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 251 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CATCACATCAGCCAGCTTCTT 0.597000 18 79 1.99824e-07 2.34303e-07 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62291631 62291631 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:62291631C>A ENST00000378024.4 - 5 10532 c.10258G>T c.(10258-10260)Gtg>Ttg p.V3420L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3420 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTAGCTCCACGTCAGGCATA 0.403000 49 81 2.64894e-19 4.00017e-19 1 1 0 PPP1R16B 26051 broad.mit.edu 37 20 37518270 37518270 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:37518270G>A ENST00000299824.1 + 3 472 c.283G>A c.(283-285)Gat>Aat p.D95N PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D95N|PPP1R16B_ENST00000468265.1_3'UTR NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 95 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GGTCAGCCCTGATTTGTGCAA 0.602000 71 130 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106209271 106209271 + RNA SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:106209271C>A ENST00000390548.2 - 0 137 CGCCGCTGGTCAGGGCGCCTG 0.657000 15 40 1.55795e-14 2.18698e-14 1 1 0 LPHN1 22859 broad.mit.edu 37 19 14262214 14262214 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:14262214G>A ENST00000340736.6 - 24 4193 c.3896C>T c.(3895-3897)gCg>gTg p.A1299V LPHN1_ENST00000361434.3_Missense_Mutation_p.A1294V|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1299 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCCCTTGGCCGCGCTGCTGCT 0.726000 8 17 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076853 9076853 + Silent SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:9076853G>A ENST00000397910.4 - 3 10796 c.10593C>T c.(10591-10593)acC>acT p.T3531T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3532 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGGAGCTGTGGTTACGTCCA 0.517000 86 140 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7773093 7773093 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:7773093C>A ENST00000338316.4 + 18 2352 c.2263C>A c.(2263-2265)Ctg>Atg p.L755M ADCY2_ENST00000537121.1_Missense_Mutation_p.L575M NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 755 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TTCCGTGTTCCTGCGGGTAAA 0.498000 66 126 4.46356e-37 8.08851e-37 1 1 0 FBL 2091 broad.mit.edu 37 19 40328440 40328440 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr19:40328440C>T ENST00000221801.3 - 6 706 c.593G>A c.(592-594)cGt>cAt p.R198H FBL_ENST00000593503.1_5'UTR NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 198 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) AATGAGGTCACGGCCAGAGCG 0.473000 17 62 0 0 1 0 0 OR6C75 390323 broad.mit.edu 37 12 55759803 55759803 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:55759803C>A ENST00000343399.3 + 1 909 c.909C>A c.(907-909)gtC>gtA p.V303V NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 AGAGCATGGTCCAGAAGATGA 0.388000 23 60 3.10358e-05 3.43057e-05 1 1 0 CSNK2A2 1459 broad.mit.edu 37 16 58220683 58220683 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:58220683C>A ENST00000262506.3 - 3 477 c.294G>T c.(292-294)ctG>ctT p.L98L CSNK2A2_ENST00000566813.1_5'UTR NM_001896.2 NP_001887.1 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 98 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 CAGTGTCAATCAGCTTAATGA 0.428000 29 108 5.91797e-21 9.24006e-21 1 1 0 CHD4 1108 broad.mit.edu 37 12 6709016 6709016 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:6709016A>G ENST00000309577.6 - 10 1568 c.1405T>C c.(1405-1407)Tct>Cct p.S469P CHD4_ENST00000544484.1_Missense_Mutation_p.S466P|CHD4_ENST00000544040.1_Missense_Mutation_p.S462P|CHD4_ENST00000357008.2_Missense_Mutation_p.S469P Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 469 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGGTAGGAAGAAGGACAGGTA 0.562000 69 44 0 0 1 0 0 KCNJ13 3769 broad.mit.edu 37 2 233633139 233633139 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:233633139C>T ENST00000233826.3 - 3 984 c.845G>A c.(844-846)tGc>tAc p.C282Y GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373563.4_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.C282Y|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000452341.2_Intron NM_002242.4 NP_002233.2 O60928 IRK13_HUMAN potassium inwardly-rectifying channel, subfamily J, member 13 282 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1) 9 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908) Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617) CCTCCTTTGGCATATTTCTCC 0.438000 71 154 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23853925 23853925 + Splice_Site SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:23853925G>T ENST00000405093.3 - 36 5361 c.5289_splice c.e36-1 p.A1764_splice MYH6_ENST00000356287.3_Splice_Site_p.A1764_splice NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1764 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CATCATGGCGGCCTGTGTGCA 0.602000 46 75 6.31075e-24 1.02272e-23 1 1 0 ARFIP2 23647 broad.mit.edu 37 11 6501566 6501566 + Missense_Mutation SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:6501566T>C ENST00000254584.2 - 2 169 c.86A>G c.(85-87)gAt>gGt p.D29G ARFIP2_ENST00000525235.1_Missense_Mutation_p.D29G|ARFIP2_ENST00000396777.3_Missense_Mutation_p.D29G|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000423813.2_Intron NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 29 actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCCAGCCCATCATCTTCAGG 0.488000 6 15 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132415659 132415659 + Splice_Site SNP T T G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:132415659T>G ENST00000337331.5 - 15 2175 c.e15-2 NPHP3_ENST00000326682.8_Intron NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTTCTTCTCCTGCACCAGTTT 0.443000 36 58 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47305794 47305794 + Missense_Mutation SNP G G C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:47305794G>C ENST00000342922.4 + 11 2285 c.1928G>C c.(1927-1929)aGt>aCt p.S643T MADD_ENST00000395344.3_Missense_Mutation_p.S643T|MADD_ENST00000395336.3_Missense_Mutation_p.S643T|MADD_ENST00000402799.1_Missense_Mutation_p.S643T|MADD_ENST00000311027.5_Missense_Mutation_p.S643T|MADD_ENST00000407859.3_Missense_Mutation_p.S643T|MADD_ENST00000349238.3_Missense_Mutation_p.S643T|MADD_ENST00000406482.1_Missense_Mutation_p.S643T|MADD_ENST00000402192.2_Missense_Mutation_p.S643T NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 643 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GACTTTGTCAGTGAAATGATG 0.468000 61 140 0 0 1 0 0 VPS51 738 broad.mit.edu 37 11 64875963 64875963 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:64875963C>T ENST00000279281.3 + 5 1112 c.1020C>T c.(1018-1020)ttC>ttT p.F340F VPS51_ENST00000527646.1_3'UTR NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) TGGCGGCCTTCGCCCGGCAGC 0.716000 5 17 0 0 1 0 0 CBLN2 147381 broad.mit.edu 37 18 70209306 70209306 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:70209306G>T ENST00000269503.4 - 3 863 c.90C>A c.(88-90)tcC>tcA p.S30S CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000585159.1_Silent_p.S30S NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 30 integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) CCCCCAGGCAGGATCCGCAgc 0.761000 3 6 0.004672 0.00481699 1 1 0 EYA3 2140 broad.mit.edu 37 1 28339655 28339655 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:28339655C>A ENST00000373871.3 - 9 976 c.736G>T c.(736-738)Gcg>Tcg p.A246S EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.A193S|EYA3_ENST00000540618.1_Missense_Mutation_p.A200S|EYA3_ENST00000436342.2_Missense_Mutation_p.A120S|EYA3_ENST00000373863.3_Missense_Mutation_p.A200S|EYA3_ENST00000373864.1_Missense_Mutation_p.A90S Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 246 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) GGTGCAGGCGCCATGACACTA 0.512000 55 84 2.84144e-21 4.47152e-21 1 1 0 MAGI2 9863 broad.mit.edu 37 7 77756639 77756639 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:77756639G>T ENST00000354212.4 - 19 3551 c.3298C>A c.(3298-3300)Caa>Aaa p.Q1100K MAGI2_ENST00000419488.1_Missense_Mutation_p.Q1086K|MAGI2_ENST00000522391.1_Missense_Mutation_p.Q1100K NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1100 Pro-rich. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CCTGGGGGTTGCCTGTAATCC 0.587000 57 94 9.59835e-30 1.64937e-29 1 1 0 NEBL 10529 broad.mit.edu 37 10 21101791 21101791 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:21101791C>G ENST00000377122.4 - 24 2821 c.2425G>C c.(2425-2427)Gtg>Ctg p.V809L NEBL_ENST00000417816.2_Missense_Mutation_p.V146L|NEBL_ENST00000377159.4_Missense_Mutation_p.V112L NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 809 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 TTCTTCCTCACTCTCTCTGTC 0.468000 18 20 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706772 96706772 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:96706772G>T ENST00000389672.5 + 3 1087 c.1049G>T c.(1048-1050)tGg>tTg p.W350L EPHA6_ENST00000470610.2_Missense_Mutation_p.W350L|EPHA6_ENST00000542517.1_Missense_Mutation_p.W256L NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 255 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity 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 GATGGAGATTGGCTGGTTCCT 0.428000 32 91 2.61193e-14 3.62398e-14 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176564196 176564196 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:176564196C>A ENST00000367662.3 + 3 2620 c.1456C>A c.(1456-1458)Cca>Aca p.P486T PAPPA2_ENST00000367661.3_Missense_Mutation_p.P486T NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 486 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGGCTTTGAGCCAGAGCCTGA 0.527000 29 127 2.36697e-06 2.68078e-06 1 1 0 VEGFC 7424 broad.mit.edu 37 4 177713413 177713413 + Missense_Mutation SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:177713413A>G ENST00000280193.2 - 1 468 c.53T>C c.(52-54)cTg>cCg p.L18P NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 18 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) ACCCGGGAGCAGCGCAGCGGC 0.746000 3 7 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96435944 96435944 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:96435944C>A ENST00000359246.4 + 18 2793 c.2426C>A c.(2425-2427)tCc>tAc p.S809Y PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 809 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) GCCTCCGACTCCTGCCTGCAG 0.672000 13 53 9.31168e-06 1.04473e-05 1 1 0 MOCS3 27304 broad.mit.edu 37 20 49576319 49576319 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:49576319G>A ENST00000244051.1 + 1 957 c.940G>A c.(940-942)Gcc>Acc p.A314T NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 314 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 GGACTATGAAGCCTTCTGTGG 0.582000 51 73 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39636968 39636968 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:39636968G>T ENST00000246639.2 - 1 424 c.292C>A c.(292-294)Cgc>Agc p.R98S KRT35_ENST00000393989.1_Missense_Mutation_p.R128S Q92764 KRT35_HUMAN keratin 35 128 Coil 1A.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) TCACGGATGCGGCTCTCCAGG 0.597000 37 58 7.61165e-28 1.29312e-27 1 1 0 KCNA5 3741 broad.mit.edu 37 12 5153823 5153823 + Silent SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:5153823C>G ENST00000252321.3 + 1 739 c.510C>G c.(508-510)ccC>ccG p.P170P NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 170 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GCAACCGGCCCAGCTTCGACG 0.652000 15 44 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798733 57798733 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:57798733C>T ENST00000302622.3 + 1 332 c.309C>T c.(307-309)tcC>tcT p.S103S OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) ATTGCCTATCCCAGCTCTTCA 0.478000 64 129 0 0 1 0 0 MIR1302-3 100302128 broad.mit.edu 37 2 114340670 114340670 + RNA SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:114340670A>T ENST00000408128.1 - 0 3 NR_031632.1 ctagctgggcatcctgtcttt 0.403000 46 141 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197062325 197062325 + Silent SNP G G T rs142024644 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:197062325G>T ENST00000367409.4 - 21 9407 c.9151C>A c.(9151-9153)Cgg>Agg p.R3051R ASPM_ENST00000294732.7_Silent_p.R1466R|ASPM_ENST00000367408.1_Silent_p.R716R NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3051 IQ 36. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GATTTCTGCCGAAGAAAGACC 0.353000 69 185 8.73484e-25 1.42717e-24 1 1 0 GRIP1 23426 broad.mit.edu 37 12 66932990 66932990 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:66932990C>G ENST00000359742.4 - 4 526 c.286G>C c.(286-288)Gat>Cat p.D96H GRIP1_ENST00000398016.3_Missense_Mutation_p.D96H|GRIP1_ENST00000286445.7_Missense_Mutation_p.D96H Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 96 PDZ 1. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCACCCACATCCAGCTGGTCA 0.463000 72 126 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183195899 183195899 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:183195899G>T ENST00000264144.4 + 9 1198 c.1133G>T c.(1132-1134)tGg>tTg p.W378L LAMC2_ENST00000493293.1_Missense_Mutation_p.W378L NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 378 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 CCAGCACCCTGGGTTGAACAG 0.522000 134 254 3.81006e-50 7.21018e-50 1 1 0 XYLB 9942 broad.mit.edu 37 3 38411653 38411653 + Silent SNP A A G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:38411653A>G ENST00000207870.3 + 9 843 c.753A>G c.(751-753)tcA>tcG p.S251S XYLB_ENST00000542835.1_Silent_p.S114S NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 251 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) CAGTACCATCATGCTCAGTTG 0.502000 53 70 0 0 1 0 0 AVPR1A 552 broad.mit.edu 37 12 63541350 63541350 + Missense_Mutation SNP A A T rs142450720 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:63541350A>T ENST00000299178.2 - 2 1151 c.1046T>A c.(1045-1047)aTg>aAg p.M349K NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 349 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) ACTAAAAAACATGTATATCCA 0.398000 52 119 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187557216 187557216 + Silent SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:187557216C>A ENST00000441802.2 - 6 4355 c.4146G>T c.(4144-4146)gtG>gtT p.V1382V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1382 Cadherin 12. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAGGAGGCTCCACAGATATTA 0.468000 HNSCC(5;0.00058) 9 28 2.74318e-10 3.42468e-10 1 1 0 GRIN2C 2905 broad.mit.edu 37 17 72842922 72842922 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr17:72842922G>T ENST00000293190.5 - 10 2285 c.2139C>A c.(2137-2139)gaC>gaA p.D713E GRIN2C_ENST00000347612.4_Missense_Mutation_p.D713E NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 713 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TGGTGAGCGCGTCCTCCACCG 0.622000 17 72 5.01169e-05 5.50918e-05 1 1 0 SSBP2 23635 broad.mit.edu 37 5 80946159 80946159 + Splice_Site SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:80946159C>A ENST00000320672.4 - 2 273 c.e2-1 SSBP2_ENST00000505980.1_Splice_Site|SSBP2_ENST00000515395.1_Splice_Site|SSBP2_ENST00000514493.1_Splice_Site|SSBP2_ENST00000509053.1_Splice_Site NM_001256732.1|NM_001256733.1|NM_012446.3 NP_001243661.1|NP_001243662.1|NP_036578.2 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) GAGTGCTAACCTGGAAAACAA 0.299000 8 12 0.307466 0.309016 1 1 0 KRT1 3848 broad.mit.edu 37 12 53074043 53074043 + Missense_Mutation SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:53074043C>G ENST00000252244.3 - 1 148 c.90G>C c.(88-90)agG>agC p.R30S NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 30 Gly/Phe/Ser-rich.|Head. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.R30R(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 TGCTGGTGGTCCTGCGCTGGT 0.562000 31 59 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47541482 47541482 + Missense_Mutation SNP G G A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr21:47541482G>A ENST00000300527.4 + 18 1575 c.1471G>A c.(1471-1473)Gac>Aac p.D491N COL6A2_ENST00000310645.5_Missense_Mutation_p.D491N|COL6A2_ENST00000409416.1_Missense_Mutation_p.D491N|COL6A2_ENST00000397763.1_Missense_Mutation_p.D491N|COL6A2_ENST00000357838.4_Missense_Mutation_p.D491N NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 491 Triple-helical 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) ATCTCGGGGAGACCCCGGTGA 0.657000 17 28 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15761671 15761671 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:15761671G>T ENST00000378076.3 - 1 453 c.100C>A c.(100-102)Ccc>Acc p.P34T NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 34 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TGACAGGCGGGGGACCACAGC 0.697000 5 3 0.0293803 0.0300332 1 1 0 ZNF519 162655 broad.mit.edu 37 18 14105358 14105358 + Missense_Mutation SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:14105358T>C ENST00000590202.1 - 3 1333 c.1181A>G c.(1180-1182)cAt>cGt p.H394R ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 CATTCTCTGATGCTGAGTAAC 0.408000 59 102 0 0 1 0 0 VPS41 27072 broad.mit.edu 37 7 38937723 38937723 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:38937723C>A ENST00000310301.4 - 2 82 c.28G>T c.(28-30)Ggg>Tgg p.G10W VPS41_ENST00000395969.2_Missense_Mutation_p.G10W NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 10 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|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 TCAAGGGACCCAGTTTCCTAT 0.433000 9 64 7.48243e-07 8.58828e-07 1 1 0 ITGA1 3672 broad.mit.edu 37 5 52206125 52206125 + Missense_Mutation SNP T T C TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:52206125T>C ENST00000282588.6 + 14 2191 c.1733T>C c.(1732-1734)gTa>gCa p.V578A NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 578 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) ATTGCTGCTGTAAAAGACCTC 0.458000 30 50 0 0 1 0 0 CS 1431 broad.mit.edu 37 12 56666954 56666954 + Missense_Mutation SNP T T A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:56666954T>A ENST00000548567.1 - 12 1587 c.1117A>T c.(1117-1119)Agc>Tgc p.S373C CS_ENST00000351328.3_Missense_Mutation_p.S439C|CS_ENST00000542324.2_Missense_Mutation_p.S426C O75390 CISY_HUMAN citrate synthase 439 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 17 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) AAGGCTCGGCTCCAGATGAGC 0.507000 14 117 0 0 1 0 0 SLC29A4 222962 broad.mit.edu 37 7 5331444 5331444 + Missense_Mutation SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:5331444G>T ENST00000396872.2 + 5 697 c.536G>T c.(535-537)gGc>gTc p.G179V SLC29A4_ENST00000297195.4_Missense_Mutation_p.G179V|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A167S NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 179 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GTGGCCTTCGGCTGCACAGGT 0.642000 28 43 1.17739e-12 1.56463e-12 1 1 0 STPG1 90529 broad.mit.edu 37 1 24710416 24710416 + Frame_Shift_Del DEL T T - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:24710416delT ENST00000374409.1 - 4 521 c.267delA c.(265-267)aafs p.K89fs STPG1_ENST00000003583.8_Frame_Shift_Del_p.K42fs|STPG1_ENST00000337248.4_Frame_Shift_Del_p.K89fs|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Frame_Shift_Del_p.K42fs NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 TGCAAGTTCCTTTCTTGGACA 0.413 55 150 --- --- --- --- THEMIS2 9473 broad.mit.edu 37 1 28209508 28209509 + Frame_Shift_Del DEL AG AG - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:28209508_28209509delAG ENST00000373921.3 + 4 1677_1678 c.1673_1674delAG c.(1672-1674)cfs p.Q558fs THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Frame_Shift_Del_p.Q429fs NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 CCTAAAAATCAGGGCCTCAGCA 0.554 9 100 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 4 8 --- --- --- --- ADAM15 8751 broad.mit.edu 37 1 155025221 155025221 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:155025221delG ENST00000356955.2 + 2 255 c.154delG c.(154-156)atfs p.D52fs ADAM15_ENST00000360674.4_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000359280.4_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000368410.2_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000368412.3_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000449910.2_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000368413.1_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000355956.2_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Frame_Shift_Del_p.D62fs|ADAM15_ENST00000447332.3_Frame_Shift_Del_p.T61fs|ADAM15_ENST00000271836.6_Frame_Shift_Del_p.D52fs NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 52 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCTTCAGGACGATCTCCCAAT 0.572 OREG0013847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 19 --- --- --- --- OR6K2 81448 broad.mit.edu 37 1 158669502 158669503 + Frame_Shift_Ins INS - - A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:158669502_158669503insA ENST00000359610.2 - 1 983_984 c.940_941insT c.(940-942)cgtfs p.R314fs NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) TGGTCTTACGGAAAAAAATATC 0.371 15 192 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237886443 237886444 + Frame_Shift_Ins INS - - T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr1:237886443_237886444insT ENST00000366574.2 + 74 10887_10888 c.10570_10571insT c.(10570-10572)tagfs p.*3524fs RYR2_ENST00000360064.6_Frame_Shift_Ins_p.*3522fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.*3508fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3524 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) GGATCCTGCTATTAGATGGCAA 0.396 234 197 --- --- --- --- MYT1L 23040 broad.mit.edu 37 2 1983501 1983501 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:1983501delC ENST00000399161.2 - 6 796 c.49delG c.(49-51)ttfs p.V17fs MYT1L_ENST00000428368.2_Frame_Shift_Del_p.V17fs NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 17 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ATACCTCGAACCCCTTTGGAC 0.597 21 37 --- --- --- --- COX7A2L 9167 broad.mit.edu 37 2 42578485 42578486 + Frame_Shift_Del DEL CA CA - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr2:42578485_42578486delCA ENST00000378669.1 - 4 1047_1048 c.218_219delTG c.(217-219)gfs p.V73fs COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_Frame_Shift_Del_p.V73fs O14548 COX7R_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 like 73 respiratory electron transport chain mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity lung(4) 4 GGTAGACGGGCACACCATCAGC 0.446 12 38 --- --- --- --- CLCN2 1181 broad.mit.edu 37 3 184071074 184071079 + In_Frame_Del DEL CTCCTG CTCCTG - rs150698157 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr3:184071074_184071079delCTCCTG ENST00000265593.4 - 17 2158_2163 c.1987_1992delCAGGAG c.(1987-1992)del p.QE663del CLCN2_ENST00000434054.2_In_Frame_Del_p.QE619del|CLCN2_ENST00000344937.7_In_Frame_Del_p.QE646del|CLCN2_ENST00000457512.1_In_Frame_Del_p.QE663del|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 663 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TAGGGGGACCCTCCTGATCAGATAGT 0.597 29 125 --- --- --- --- HAND2 9464 broad.mit.edu 37 4 174449937 174449938 + Frame_Shift_Ins INS - - T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr4:174449937_174449938insT ENST00000359562.4 - 1 1442_1443 c.503_504insA c.(502-504)agcfs p.S168fs HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA NM_021973.2 NP_068808.1 P61296 HAND2_HUMAN heart and neural crest derivatives expressed 2 168 adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 13 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TGATCTCTGCCTTGAAGGCCTC 0.609 20 30 --- --- --- --- PCDHGA5 56110 broad.mit.edu 37 5 140745211 140745211 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr5:140745211delC ENST00000518069.1 + 1 1314 c.1314delC c.(1312-1314)atfs p.I438fs PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGCCACATCCCCTTGAAAG 0.473 60 134 --- --- --- --- HTR5A 3361 broad.mit.edu 37 7 154875878 154875878 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr7:154875878delC ENST00000287907.2 + 2 1331 c.755delC c.(754-756)gcfs p.A252fs HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 252 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) AAGGACTCTGCCAAACAGCCC 0.617 11 30 --- --- --- --- NR4A3 8013 broad.mit.edu 37 9 102626025 102626025 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr9:102626025delC ENST00000330847.1 + 7 1834 c.1790delC c.(1789-1791)gcfs p.A597fs NR4A3_ENST00000395097.2_Frame_Shift_Del_p.A586fs Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 586 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GTCCTGGGTGCCCTGGTAGAA 0.532 T EWSR1 extraskeletal myxoid chondrosarcoma 14 45 --- --- --- --- DCLRE1A 9937 broad.mit.edu 37 10 115608890 115608897 + Frame_Shift_Del DEL ATTAATAA ATTAATAA - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr10:115608890_115608897delATTAATAA ENST00000361384.2 - 2 2884_2891 c.1967_1974delTTATTAAT c.(1966-1974)cfs p.LIN656fs DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.LIN656fs NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 656 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) CAGATTCTGTATTAATAAGGTGATCTGA 0.409 Other identified genes with known or suspected DNA repair function 55 155 --- --- --- --- NLRP10 338322 broad.mit.edu 37 11 7982588 7982588 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr11:7982588delC ENST00000328600.2 - 2 732 c.571delG c.(571-573)ccfs p.A191fs NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 191 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTACCGGTGGCCCAGTCCAAC 0.527 18 57 --- --- --- --- OR6C74 254783 broad.mit.edu 37 12 55641903 55641904 + Frame_Shift_Del DEL TC TC - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr12:55641903_55641904delTC ENST00000343870.4 + 1 922_923 c.832_833delTC c.(832-834)tfs p.S278fs NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 GCTCAGCACTTCTGTTGCCCCC 0.381 21 130 --- --- --- --- TRAC 28755 broad.mit.edu 37 14 23016739 23016740 + RNA INS - - T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:23016739_23016740insT ENST00000478163.3 + 0 273 GCTTTGGTGCCTTCGCAGGCTG 0.510 19 29 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256459 69256460 + Frame_Shift_Ins INS - - G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:69256459_69256460insG ENST00000439696.2 - 2 1108_1109 c.807_808insC c.(805-810)ccggggfs p.PG269fs ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.PG269fs NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 269 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G271fs*36(1) breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GAGCCACCCCCGGGCAGCCCCA 0.634 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 105 --- --- --- --- IGHV3-66 28412 broad.mit.edu 37 14 107131320 107131320 + RNA DEL C C - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr14:107131320delC ENST00000390632.2 - 0 139 accagctgcacctcacactgg 0.527 102 61 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 7 138 --- --- --- --- SLC39A6 25800 broad.mit.edu 37 18 33691066 33691067 + Frame_Shift_Ins INS - - AA TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr18:33691066_33691067insAA ENST00000269187.5 - 9 2283_2284 c.2070_2071insTT c.(2068-2073)ttcactfs p.T691fs SLC39A6_ENST00000590986.1_Frame_Shift_Ins_p.T691fs|SLC39A6_ENST00000440549.2_Frame_Shift_Ins_p.T416fs NM_012319.3 NP_036451.3 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 691 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 GCAGTAAGTGCAAATATCCACA 0.342 22 53 --- --- --- --- MMP24 10893 broad.mit.edu 37 20 33862186 33862188 + In_Frame_Del DEL AGA AGA - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:33862186_33862188delAGA ENST00000246186.6 + 9 1797_1799 c.1712_1714delAGA c.(1711-1716)cag>c p.QK571del MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 571 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) GGCTGCAACCAGAAGGAGGTGGA 0.626 48 109 --- --- --- --- MTG2 26164 broad.mit.edu 37 20 60773745 60773745 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chr20:60773745delG ENST00000370823.3 + 5 542 c.524delG c.(523-525)tcfs p.C175fs MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_5'UTR NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 GACCTGTCTTGCGTGGGAGAT 0.627 14 30 --- --- --- --- MAGEB6 158809 broad.mit.edu 37 X 26213091 26213091 + Frame_Shift_Del DEL G G - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:26213091delG ENST00000379034.1 + 2 1277 c.1128delG c.(1126-1128)ttfs p.L376fs NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 376 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TGCGTGTTTTGGCCGACAGCA 0.502 81 76 --- --- --- --- PCDH11X 27328 broad.mit.edu 37 X 91873895 91873895 + Frame_Shift_Del DEL C C - TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5 9DD6F104-86F9-4E33-BEF4-D578F541C9EA g.chrX:91873895delC ENST00000373094.1 + 7 4845 c.4000delC c.(4000-4002)cgfs p.P1334fs PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.P1326fs|PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.P1324fs|PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.P1316fs|PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.P1297fs|PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.P1297fs|PCDH11X_ENST00000504220.1_3'UTR NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1334 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACAGGCCAGACCGTCCAGAGG 0.378 84 63 --- --- --- ---