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 TTC30A 92104 broad.mit.edu 37 2 178482760 178482760 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:178482760C>G ENST00000355689.4 - 1 934 c.670G>C c.(670-672)Gag>Cag p.E224Q AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 224 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) ACACCTAGCTCAGGATGCTGG 0.522000 30 71 0 0 0.717897 0 0 MFSD6L 162387 broad.mit.edu 37 17 8700928 8700928 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:8700928C>T ENST00000329805.4 - 1 1739 c.1511G>A c.(1510-1512)tGt>tAt p.C504Y NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 504 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 GCCCAGGCTACAGCCACTCCC 0.632000 18 28 0 0 0.575678 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18162426 18162426 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:18162426G>C ENST00000278816.2 + 8 2394 c.1744G>C c.(1744-1746)Gat>Cat p.D582H CSRP2BP_ENST00000377681.2_Missense_Mutation_p.D581H|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.D454H|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.D582H Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 582 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 AGGATCAGAAGATATGGCTGT 0.443000 57 117 0 0 0.870114 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242048 87242048 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:87242048C>G ENST00000297524.3 - 1 562 c.459G>C c.(457-459)gtG>gtC p.V153V SLC7A13_ENST00000419776.2_Silent_p.V153V|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 153 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TCACTTCTTTCACACCACGAG 0.453000 28 114 0 0 0.706142 0 0 MCM5 4174 broad.mit.edu 37 22 35817335 35817335 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:35817335C>T ENST00000216122.4 + 15 2011 c.1857C>T c.(1855-1857)atC>atT p.I619I MCM5_ENST00000382011.5_Silent_p.I576I NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 619 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 TTGTGCGCATCGCGGAAGCCC 0.637000 30 73 0 0 0.706142 0 0 GMEB2 26205 broad.mit.edu 37 20 62234366 62234366 + Silent SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:62234366G>T ENST00000266068.1 - 3 787 c.309C>A c.(307-309)ctC>ctA p.L103L GMEB2_ENST00000370077.1_Silent_p.L103L|GMEB2_ENST00000370069.1_Silent_p.L52L Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 103 SAND. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) TCCTCCAGATGAGGTTGGCTC 0.537000 7 212 0.00198382 0.00202156 0.248553 1 0 CCT7 10574 broad.mit.edu 37 2 73470151 73470151 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:73470151C>G ENST00000539919.1 + 5 526 c.155C>G c.(154-156)tCa>tGa p.S52* CCT7_ENST00000398422.2_Intron|CCT7_ENST00000258091.5_Nonsense_Mutation_p.S96*|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Nonsense_Mutation_p.S9*|CCT7_ENST00000537131.1_Intron|CCT7_ENST00000538797.1_5'UTR NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 96 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 GGCACCACCTCAGTGACCTTG 0.502000 24 74 0 0 0.667858 0 0 ZNF471 57573 broad.mit.edu 37 19 57027752 57027752 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:57027752C>G ENST00000308031.5 + 3 275 c.142C>G c.(142-144)Cag>Gag p.Q48E ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.Q48E NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 48 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) GGAGAACTATCAGAGCCTGGT 0.373000 44 147 0 0 0.870114 0 0 CATSPER3 347732 broad.mit.edu 37 5 134344589 134344589 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:134344589G>T ENST00000282611.6 + 5 820 c.734G>T c.(733-735)cGg>cTg p.R245L NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 245 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCTTTGAGCCGGGCATTCACC 0.532000 32 92 3.80469e-20 4.05834e-20 0.740014 1 0 GRM3 2913 broad.mit.edu 37 7 86468291 86468291 + Silent SNP A A T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:86468291A>T ENST00000361669.2 + 4 2560 c.1461A>T c.(1459-1461)gcA>gcT p.A487A GRM3_ENST00000546348.1_Silent_p.A79A|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.A359A NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 487 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GTCACTGGGCAGAAACCTTAT 0.468000 21 51 0 0 0.575678 0 0 ERBB3 2065 broad.mit.edu 37 12 56495416 56495416 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:56495416G>C ENST00000267101.3 + 28 4046 c.3606G>C c.(3604-3606)cgG>cgC p.R1202R ERBB3_ENST00000553131.1_Silent_p.R443R|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000450146.2_Silent_p.R559R|ERBB3_ENST00000549832.1_Silent_p.R322R|ERBB3_ENST00000415288.2_Silent_p.R1143R NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1202 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) ACATGAACCGGAGGAGAAGGC 0.542000 37 87 0 0 0.788014 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068542 103068542 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:103068542C>T ENST00000264260.2 + 12 2290 c.1701C>T c.(1699-1701)ttC>ttT p.F567F IL18RAP_ENST00000409369.1_Silent_p.F425F NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 567 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CTCAGGGATTCACGTGGAACC 0.478000 35 209 0 0 0.779181 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18655767 18655767 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:18655767C>G ENST00000336349.5 - 1 273 c.38G>C c.(37-39)gGa>gCa p.G13A SPTY2D1_ENST00000543776.1_Intron NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 13 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 GACACCTTGTCCCTTGGAAGC 0.547000 72 269 0 0 0.870114 0 0 SCAND3 114821 broad.mit.edu 37 6 28541483 28541483 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:28541483C>G ENST00000452236.2 - 4 2800 c.2183G>C c.(2182-2184)aGa>aCa p.R728T NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 728 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 agcatgaactcttttggtttt 0.323000 28 30 0 0 0.729181 0 0 FAIM3 9214 broad.mit.edu 37 1 207087216 207087216 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:207087216G>C ENST00000367091.3 - 2 404 c.261C>G c.(259-261)ttC>ttG p.F87L FAIM3_ENST00000420007.2_Missense_Mutation_p.F87L|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron NM_005449.4 NP_005440.1 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 87 Ig-like. anti-apoptosis|cellular defense response integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) CCTCCACTAGGAACAGATTCT 0.522000 6 181 0 0 0.217242 0 0 SLC6A5 9152 broad.mit.edu 37 11 20658825 20658825 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:20658825C>G ENST00000525748.1 + 12 2118 c.1845C>G c.(1843-1845)atC>atG p.I615M SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 615 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) GTTTCTTCATCATGGGTTTTC 0.532000 32 85 0 0 0.788014 0 0 FLG 2312 broad.mit.edu 37 1 152286936 152286936 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:152286936C>G ENST00000368799.1 - 3 461 c.426G>C c.(424-426)aaG>aaC p.K142N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 142 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTTGGGCTCTTGGATCTTC 0.348000 Ichthyosis 88 208 0 0 0.870114 0 0 NLGN1 22871 broad.mit.edu 37 3 173998755 173998755 + Missense_Mutation SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:173998755T>C ENST00000457714.1 + 7 2563 c.2134T>C c.(2134-2136)Tgc>Cgc p.C712R NLGN1_ENST00000401917.3_Missense_Mutation_p.C752R|NLGN1_ENST00000361589.4_Missense_Mutation_p.C712R|NLGN1_ENST00000545397.1_Missense_Mutation_p.C712R NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 729 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TCACAGGAGATGCAGCCCTCA 0.453000 83 72 0 0 0.870114 0 0 RGL3 57139 broad.mit.edu 37 19 11515837 11515837 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:11515837C>G ENST00000380456.3 - 9 1234 c.1171G>C c.(1171-1173)Gag>Cag p.E391Q RGL3_ENST00000393423.3_Missense_Mutation_p.E391Q NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 391 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 AAAAGAATCTCTCTGCTGCTG 0.547000 9 261 0 0 0.387290 0 0 ZNF106 64397 broad.mit.edu 37 15 42742378 42742378 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:42742378C>T ENST00000263805.4 - 2 2349 c.2023G>A c.(2023-2025)Gaa>Aaa p.E675K ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TGTGCATCTTCTAGAGAGGTT 0.413000 6 273 0 0 0.217242 0 0 SUSD1 64420 broad.mit.edu 37 9 114886646 114886646 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:114886646G>A ENST00000374270.3 - 6 949 c.777C>T c.(775-777)ggC>ggT p.G259G SUSD1_ENST00000374263.3_Silent_p.G259G|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Silent_p.G259G NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 259 Sushi 2. integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 GAGCCACACCGCCCAGCCTGG 0.517000 19 69 0 0 0.812448 0 0 SLC17A9 63910 broad.mit.edu 37 20 61594629 61594629 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:61594629C>T ENST00000370349.3 + 7 819 c.615C>T c.(613-615)ctC>ctT p.L205L SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.L211L Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 211 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 CCTCAGATCTCATCCTGGCCT 0.622000 7 45 0 0 0.248553 0 0 MAP3K4 4216 broad.mit.edu 37 6 161470020 161470020 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:161470020C>G ENST00000392142.4 + 3 864 c.716C>G c.(715-717)tCa>tGa p.S239* MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.S239*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.S239*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.S239* NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 239 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) ACCTCAGTCTCAAAGAAAAAA 0.433000 21 70 0 0 0.575678 0 0 NLRP11 204801 broad.mit.edu 37 19 56303801 56303801 + Missense_Mutation SNP G G C rs114762114 by1000genomes TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:56303801G>C ENST00000443188.1 - 9 3089 c.2379C>G c.(2377-2379)agC>agG p.S793R NLRP11_ENST00000360133.3_Missense_Mutation_p.S739R|NLRP11_ENST00000592953.1_Missense_Mutation_p.S694R|NLRP11_ENST00000589093.1_Missense_Mutation_p.S793R|NLRP11_ENST00000589824.2_Missense_Mutation_p.S739R NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 793 ATP binding p.S793S(1) 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) TTCCAAGGGCGCTGCAGCAAT 0.493000 35 101 0 0 0.796494 0 0 TDRD6 221400 broad.mit.edu 37 6 46657053 46657053 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:46657053G>A ENST00000544460.1 + 1 1442 c.1188G>A c.(1186-1188)ctG>ctA p.L396L TDRD6_ENST00000316081.6_Silent_p.L396L NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 396 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TCGGTGACCTGAAGACACTGA 0.478000 66 107 0 0 0.870114 0 0 IFT80 57560 broad.mit.edu 37 3 160000298 160000298 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:160000298C>G ENST00000326448.7 - 14 1916 c.1484G>C c.(1483-1485)cGa>cCa p.R495P IFT80_ENST00000496589.1_Missense_Mutation_p.R358P|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R666P|IFT80_ENST00000483465.1_Missense_Mutation_p.R358P NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 495 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTTCCCAAATCGTTTCACAGA 0.269000 8 90 0 0 0.335167 0 0 TCTN1 79600 broad.mit.edu 37 12 111082789 111082789 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:111082789C>T ENST00000551590.1 + 12 1505 c.1349C>T c.(1348-1350)cCg>cTg p.P450L HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Missense_Mutation_p.P436L|TCTN1_ENST00000377654.3_Silent_p.P196P|TCTN1_ENST00000397659.4_Missense_Mutation_p.P450L Q2MV58 TECT1_HUMAN tectonic family member 1 450 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 GGAGCTCTCCCGTGTCAGCTC 0.517000 46 147 0 0 0.870114 0 0 ACADSB 36 broad.mit.edu 37 10 124800176 124800176 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:124800176C>G ENST00000358776.4 + 4 512 c.498C>G c.(496-498)ctC>ctG p.L166L ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Silent_p.L64L NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain 166 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) TGCCTCAGCTCACTACAGAAA 0.358000 58 51 0 0 0.870114 0 0 KIF17 57576 broad.mit.edu 37 1 21031010 21031010 + Silent SNP G G A rs76507805 by1000genomes TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:21031010G>A ENST00000247986.2 - 5 1363 c.1053C>T c.(1051-1053)cgC>cgT p.R351R KIF17_ENST00000400463.3_Silent_p.R351R|KIF17_ENST00000375044.1_Silent_p.R251R Q9P2E2 KIF17_HUMAN kinesin family member 17 351 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CCTGGTACTCGCGAAGCAGCG 0.602000 15 65 0 0 0.457914 0 0 JMJD1C 221037 broad.mit.edu 37 10 64968002 64968002 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:64968002G>C ENST00000399262.2 - 10 3645 c.3427C>G c.(3427-3429)Ctt>Gtt p.L1143V JMJD1C_ENST00000402544.1_Missense_Mutation_p.L924V|JMJD1C_ENST00000542921.1_Missense_Mutation_p.L961V|JMJD1C_ENST00000399251.1_Missense_Mutation_p.L924V NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1143 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GGCTTTGAAAGAGATGTTATA 0.408000 8 319 0 0 0.307466 0 0 MYH10 4628 broad.mit.edu 37 17 8449949 8449949 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:8449949C>T ENST00000360416.3 - 12 1329 c.1191G>A c.(1189-1191)atG>atA p.M397I MYH10_ENST00000269243.4_Missense_Mutation_p.M387I|MYH10_ENST00000396239.1_Missense_Mutation_p.M387I|MYH10_ENST00000379980.4_Missense_Mutation_p.M403I NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 387 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CCATCACATTCATCCCAAGAA 0.428000 25 62 0 0 0.667858 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959027 10959027 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:10959027G>C ENST00000240615.2 - 1 865 c.553C>G c.(553-555)Ctc>Gtc p.L185V NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 185 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 AGGTTAAAGAGAGTCAAGGGT 0.323000 19 82 0 0 0.557998 0 0 STARD4 134429 broad.mit.edu 37 5 110836745 110836745 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:110836745C>G ENST00000296632.3 - 5 486 c.352G>C c.(352-354)Gat>Cat p.D118H STARD4_ENST00000512160.1_Intron|STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000509887.1_3'UTR|STARD4_ENST00000502322.1_Missense_Mutation_p.D118H NM_139164.1 NP_631903.1 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain containing 4 118 START. lipid transport lipid binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) TAGGAGAAATCAACAAATTCT 0.338000 56 224 0 0 0.870114 0 0 DYRK1A 1859 broad.mit.edu 37 21 38884327 38884327 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:38884327G>C ENST00000339659.3 + 11 3228 c.1758G>C c.(1756-1758)caG>caC p.Q586H DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q367H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Q595H NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 595 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 CCCCTCAACAGAATGCATTGC 0.502000 22 59 0 0 0.608945 0 0 ZNF594 84622 broad.mit.edu 37 17 5086386 5086386 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:5086386G>C ENST00000399604.4 - 1 1306 c.1166C>G c.(1165-1167)tCa>tGa p.S389* ZNF594_ENST00000575779.1_Nonsense_Mutation_p.S389* Q96JF6 ZN594_HUMAN zinc finger protein 594 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 GATGAGGTCTGAGGTGCCCTG 0.438000 162 408 0 0 0.870114 0 0 LOC101929735 101929735 broad.mit.edu 37 14 22935483 22935483 + RNA SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:22935483C>G ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA GACACTGATTCTCTGGCCTGG 0.438000 31 23 0 0 0.796494 0 0 NDC1 55706 broad.mit.edu 37 1 54269611 54269611 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:54269611G>C ENST00000371429.3 - 10 1654 c.1056C>G c.(1054-1056)ctC>ctG p.L352L NDC1_ENST00000537333.1_Silent_p.L17L|NDC1_ENST00000540001.1_Silent_p.L352L|NDC1_ENST00000234725.8_Silent_p.L237L NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin CTGGTTGGCTGAGGCTGAAAA 0.408000 98 424 0 0 0.870114 0 0 COQ7 10229 broad.mit.edu 37 16 19087180 19087180 + Nonsense_Mutation SNP C C T rs150852870 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:19087180C>T ENST00000321998.5 + 4 571 c.505C>T c.(505-507)Cag>Tag p.Q169* COQ7_ENST00000568985.1_Nonsense_Mutation_p.Q169*|COQ7_ENST00000544894.2_Nonsense_Mutation_p.Q131*|COQ7_ENST00000569127.1_Nonsense_Mutation_p.Q146* NM_016138.4 NP_057222.2 Q99807 COQ7_HUMAN coenzyme Q7 homolog, ubiquinone (yeast) 169 2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1) 10 GGAACTTCTTCAGGTATTTAT 0.488000 19 66 0 0 0.624587 0 0 GRM3 2913 broad.mit.edu 37 7 86468181 86468181 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:86468181G>C ENST00000361669.2 + 4 2450 c.1351G>C c.(1351-1353)Gat>Cat p.D451H GRM3_ENST00000546348.1_Missense_Mutation_p.D43H|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.D323H NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 451 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TAAAGATGCAGATAGCATAGT 0.358000 5 34 0 0 0.248553 0 0 ESX1 80712 broad.mit.edu 37 X 103499187 103499187 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:103499187C>G ENST00000372588.4 - 2 237 c.154G>C c.(154-156)Gag>Cag p.E52Q NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 52 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GTTCCGTACTCAGGTTTGGAC 0.587000 119 130 0 0 0.870114 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528107 6528107 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:6528107C>T ENST00000377748.1 - 21 3517 c.3020G>A c.(3019-3021)cGa>cAa p.R1007Q PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R986Q|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R1009Q|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R967Q|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R999Q|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000377725.1_Intron|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000544978.1_Intron NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 986 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) AGGGGCCCCTCGGCAATCCCA 0.697000 4 10 0 0 0.150653 0 0 NOTCH1 4851 broad.mit.edu 37 9 139417620 139417620 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:139417620C>G ENST00000277541.6 - 4 499 c.424G>C c.(424-426)Gac>Cac p.D142H NOTCH1_ENST00000491649.1_5'UTR NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 142 EGF-like 4. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCGCACGGGTCAGCCTGCTGG 0.682000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 12 0 0 0.248553 0 0 RNF25 64320 broad.mit.edu 37 2 219529908 219529908 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:219529908C>G ENST00000295704.2 - 8 1076 c.636G>C c.(634-636)ctG>ctC p.L212L NM_022453.2 NP_071898.2 Q96BH1 RNF25_HUMAN ring finger protein 25 212 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGCTGCTTTCAGTGAGGCAA 0.478000 32 71 0 0 0.796494 0 0 TBKBP1 9755 broad.mit.edu 37 17 45787869 45787869 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:45787869G>C ENST00000361722.3 + 9 2574 c.1725G>C c.(1723-1725)ctG>ctC p.L575L NM_014726.2 NP_055541.1 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 575 innate immune response endometrium(5)|kidney(1)|lung(1) 7 GACAGTTGCTGATGGAGACGG 0.632000 17 52 0 0 0.520397 0 0 ABCA13 154664 broad.mit.edu 37 7 48314889 48314889 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:48314889G>C ENST00000435803.1 + 17 5650 c.5626G>C c.(5626-5628)Gaa>Caa p.E1876Q NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1876 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATGTTCAAATGAAAGCTCCCG 0.423000 33 98 0 0 0.760397 0 0 UNC45A 55898 broad.mit.edu 37 15 91488219 91488219 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:91488219C>T ENST00000394275.2 + 12 1915 c.1080C>T c.(1078-1080)ctC>ctT p.L360L UNC45A_ENST00000418476.2_Silent_p.L375L NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 375 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTATTCTCCTCAGCAAGCTCT 0.512000 26 81 0 0 0.693898 0 0 ARC 23237 broad.mit.edu 37 8 143695306 143695306 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:143695306G>C ENST00000356613.2 - 1 1527 c.327C>G c.(325-327)gtC>gtG p.V109V NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 109 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) TCTCGCGCTTGACCCAGCGCT 0.682000 6 38 0 0 0.278610 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956074 18956074 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:18956074G>T ENST00000302797.3 - 1 482 c.258C>A c.(256-258)agC>agA p.S86R MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 86 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TACTGATGAAGCTTAACAGGG 0.522000 46 135 4.21674e-32 4.54905e-32 0.870114 1 0 HRH4 59340 broad.mit.edu 37 18 22048902 22048902 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:22048902C>T ENST00000256906.4 + 2 444 c.344C>T c.(343-345)tCa>tTa p.S115L HRH4_ENST00000426880.2_Intron NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 115 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) CGATACCTGTCAGTCTCAAAT 0.348000 21 116 0 0 0.608945 0 0 CD19 930 broad.mit.edu 37 16 28943860 28943860 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:28943860C>A ENST00000538922.1 + 2 344 c.282C>A c.(280-282)ttC>ttA p.F94L CD19_ENST00000567541.1_Missense_Mutation_p.F94L|CD19_ENST00000324662.3_Missense_Mutation_p.F94L NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 94 Ig-like C2-type 1. cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 TGGGGGGCTTCTACCTGTGCC 0.642000 6 34 0.217242 0.21902 0.217242 1 0 DDX1 1653 broad.mit.edu 37 2 15768620 15768620 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:15768620G>T ENST00000381341.2 + 22 2127 c.1738G>T c.(1738-1740)Gat>Tat p.D580Y DDX1_ENST00000233084.3_Missense_Mutation_p.D580Y Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 580 Helicase C-terminal.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TAGAGGAATTGATATCCACGG 0.343000 35 126 4.0492e-12 4.24202e-12 0.827153 1 0 ABCA3 21 broad.mit.edu 37 16 2339481 2339481 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:2339481C>A ENST00000301732.5 - 20 3354 c.2654G>T c.(2653-2655)gGa>gTa p.G885V ABCA3_ENST00000382381.3_Missense_Mutation_p.G827V NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 885 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GATGAGGGCTCCAATGCCGTC 0.682000 3 11 0.000602214 0.000615197 0.184627 1 0 RASA1 5921 broad.mit.edu 37 5 86564372 86564372 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:86564372G>T ENST00000274376.6 + 1 668 c.104G>T c.(103-105)cGg>cTg p.R35L NM_002890.2 NP_002881.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 35 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GCAGTGTGTCGGGTGAAGATA 0.721000 4 2 5.9392e-07 6.11797e-07 0.217242 1 0 TTC29 83894 broad.mit.edu 37 4 147741384 147741384 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:147741384C>G ENST00000513335.1 - 11 1271 c.1072G>C c.(1072-1074)Gaa>Caa p.E358Q TTC29_ENST00000325106.4_Missense_Mutation_p.E332Q|TTC29_ENST00000398886.4_Missense_Mutation_p.E358Q Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 332 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TTAATTGCTTCTGTCATCTCT 0.353000 8 55 0 0 0.278610 0 0 MYH13 8735 broad.mit.edu 37 17 10209920 10209920 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:10209920C>G ENST00000418404.3 - 36 5485 c.5322G>C c.(5320-5322)aaG>aaC p.K1774N MYH13_ENST00000252172.4_Missense_Mutation_p.K1774N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1774N Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1774 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 CCTGTTCCTTCTTTAGCTCCT 0.577000 53 126 0 0 0.870114 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 27 148 0 0 0.706142 0 0 B4GALT6 9331 broad.mit.edu 37 18 29211016 29211016 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:29211016C>T ENST00000306851.5 - 6 978 c.682G>A c.(682-684)Gat>Aat p.D228N B4GALT6_ENST00000383131.3_Missense_Mutation_p.D189N|B4GALT6_ENST00000237019.7_Missense_Mutation_p.D189N NM_004775.3 NP_004766.2 Q9UBX8 B4GT6_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 228 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1) 20 OV - Ovarian serous cystadenocarcinoma(10;0.00791) TGATCCACATCGTGGAAGATT 0.433000 37 81 0 0 0.834066 0 0 RP1 6101 broad.mit.edu 37 8 55538105 55538105 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:55538105C>G ENST00000220676.1 + 4 1811 c.1663C>G c.(1663-1665)Cag>Gag p.Q555E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 555 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AATTACAAGTCAGAAGATGTT 0.338000 20 103 0 0 0.557998 0 0 HDAC9 9734 broad.mit.edu 37 7 18624936 18624936 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:18624936G>T ENST00000406451.3 + 3 205 c.55G>T c.(55-57)Gag>Tag p.E19* HDAC9_ENST00000405010.3_Nonsense_Mutation_p.E19*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.E19*|HDAC9_ENST00000417496.2_Nonsense_Mutation_p.E61*|HDAC9_ENST00000524023.1_5'UTR|HDAC9_ENST00000428307.2_Nonsense_Mutation_p.E19*|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Nonsense_Mutation_p.E47*|HDAC9_ENST00000456174.2_5'UTR|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.E19*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.E19* NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 19 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TGTGGGCCTGGAGCCCATCTC 0.483000 95 245 3.17824e-57 3.45595e-57 0.870114 1 0 TMEM67 91147 broad.mit.edu 37 8 94767324 94767324 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:94767324C>G ENST00000453321.3 + 1 240 c.182C>G c.(181-183)tCg>tGg p.S61W TMEM67_ENST00000409623.3_5'UTR NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 61 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) TCCGCCCTCTCGTGTGTTCCT 0.562000 57 263 0 0 0.870114 0 0 FCGR3A 2214 broad.mit.edu 37 1 161512965 161512965 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:161512965G>A ENST00000367969.3 - 5 893 c.710C>T c.(709-711)tCa>tTa p.S237L FCGR3A_ENST00000443193.1_Missense_Mutation_p.S236L|FCGR3A_ENST00000436743.1_Missense_Mutation_p.S201L|FCGR3A_ENST00000540048.1_Missense_Mutation_p.S201L NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 201 immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGGAAAGAATGATGAGATGGT 0.423000 42 72 0 0 0.840704 0 0 DYRK4 8798 broad.mit.edu 37 12 4705759 4705759 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:4705759C>A ENST00000540757.2 + 6 584 c.424C>A c.(424-426)Cac>Aac p.H142N DYRK4_ENST00000543431.1_Missense_Mutation_p.H142N|DYRK4_ENST00000010132.5_Missense_Mutation_p.H142N NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 142 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) CCTTAGGTTTCACCAGCAGGC 0.527000 16 34 5.35267e-07 5.5184e-07 0.557998 1 0 NARF 26502 broad.mit.edu 37 17 80442792 80442792 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:80442792G>C ENST00000390006.4 + 9 1234 c.760G>C c.(760-762)Gag>Cag p.E254Q NARF_ENST00000309794.10_Missense_Mutation_p.E313Q|NARF_ENST00000457415.3_Missense_Mutation_p.E359Q|NARF_ENST00000345415.7_Missense_Mutation_p.E265Q NM_001038618.2 NP_001033707.1 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor 313 lamin filament lamin binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GCTGTTCAACGAGGATGTGGA 0.572000 5 63 0 0 0.184627 0 0 DGKQ 1609 broad.mit.edu 37 4 955492 955492 + Missense_Mutation SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:955492A>G ENST00000273814.3 - 20 2519 c.2446T>C c.(2446-2448)Ttc>Ctc p.F816L NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 816 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ATGTTGATGAAGATGAGGCCT 0.662000 16 34 0 0 0.539581 0 0 DDX3Y 8653 broad.mit.edu 37 Y 15028313 15028313 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrY:15028313C>A ENST00000336079.3 + 13 1556 c.1450C>A c.(1450-1452)Cag>Aag p.Q484K DDX3Y_ENST00000360160.4_Missense_Mutation_p.Q484K NM_001122665.1|NM_004660.3 NP_001116137.1|NP_004651.2 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked 484 Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 GGCCCTTCACCAGTTTCGCTC 0.398000 14 161 0.00316338 0.00321293 0.479597 1 0 TMEM117 84216 broad.mit.edu 37 12 44605135 44605135 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:44605135C>G ENST00000266534.3 + 5 700 c.573C>G c.(571-573)ttC>ttG p.F191L TMEM117_ENST00000551577.1_Missense_Mutation_p.F191L|TMEM117_ENST00000536799.1_Missense_Mutation_p.F87L NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 191 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) CAAGAGCTTTCTGGAAGAAAG 0.393000 3 124 0 0 0.150653 0 0 GPR63 81491 broad.mit.edu 37 6 97246864 97246864 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:97246864G>C ENST00000229955.3 - 2 1089 c.744C>G c.(742-744)ctC>ctG p.L248L GPR63_ENST00000417980.1_Silent_p.L248L NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 248 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AGAAAGAAATGAGAGAAATCA 0.473000 72 81 0 0 0.870114 0 0 KIF21A 55605 broad.mit.edu 37 12 39713804 39713804 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:39713804G>C ENST00000395670.3 - 27 4102 c.3683C>G c.(3682-3684)tCa>tGa p.S1228* KIF21A_ENST00000361418.5_Nonsense_Mutation_p.S1228*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.S1215*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.S1208*|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.S1192* Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1228 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TGATAGAGATGACTGCCTGGA 0.328000 11 53 0 0 0.361761 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73205267 73205267 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:73205267G>C ENST00000545377.1 + 34 4368 c.4192G>C c.(4192-4194)Gag>Cag p.E1398Q ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E1398Q|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.E318Q|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E1398Q|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E1398Q|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E1085Q|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E1354Q|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E1398Q NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CAGCCACATTGAGATCCACAG 0.567000 7 28 0 0 0.248553 0 0 VAT1L 57687 broad.mit.edu 37 16 77859251 77859251 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:77859251G>A ENST00000302536.2 + 3 625 c.472G>A c.(472-474)Gct>Act p.A158T NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 158 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 CTTCTCCGAGGCTGCTGCATT 0.537000 19 63 0 0 0.539581 0 0 FAM53B 9679 broad.mit.edu 37 10 126311954 126311954 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:126311954C>T ENST00000337318.3 - 5 1337 c.1126G>A c.(1126-1128)Gag>Aag p.E376K RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.E376K NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 376 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) TCTGACTCCTCACAGGACAGG 0.716000 5 29 0 0 0.248553 0 0 NLRP5 126206 broad.mit.edu 37 19 56515156 56515156 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:56515156C>T ENST00000390649.3 + 2 137 c.137C>T c.(136-138)tCt>tTt p.S46F NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 46 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AACCTGAGCTCTCAGCCTTGT 0.438000 48 132 0 0 0.870114 0 0 DHTKD1 55526 broad.mit.edu 37 10 12162209 12162209 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:12162209G>A ENST00000263035.4 + 16 2663 c.2601G>A c.(2599-2601)caG>caA p.Q867Q NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 867 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) AGGAACCTCAGAACATGGGTC 0.448000 79 115 0 0 0.870114 0 0 LRP3 4037 broad.mit.edu 37 19 33696521 33696521 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:33696521G>A ENST00000253193.7 + 5 1047 c.845G>A c.(844-846)tGc>tAc p.C282Y NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 282 CUB 2. receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) GACCTTCACTGCACGTGGCTG 0.692000 9 26 0 0 0.387290 0 0 AGBL2 79841 broad.mit.edu 37 11 47684621 47684621 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:47684621G>A ENST00000525123.1 - 18 2777 c.2492C>T c.(2491-2493)tCa>tTa p.S831L AGBL2_ENST00000298861.4_Missense_Mutation_p.S831L|AGBL2_ENST00000357610.3_Missense_Mutation_p.S833L NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 831 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 GGTGGCCATTGATGGGTCCAG 0.353000 106 325 0 0 0.870114 0 0 MCM6 4175 broad.mit.edu 37 2 136620310 136620310 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:136620310C>T ENST00000264156.2 - 8 1147 c.1087G>A c.(1087-1089)Gaa>Aaa p.E363K MCM6_ENST00000492091.1_5'UTR NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 363 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) CGTTTTACTTCATCATTGCCT 0.408000 40 80 0 0 0.864702 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835020 12835020 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:12835020C>T ENST00000357726.4 + 1 37 c.10C>T c.(10-12)Cag>Tag p.Q4* NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 4 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GATGAGCCTCCAGGCCCCACC 0.542000 27 81 0 0 0.706142 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80239130 80239130 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:80239130C>G ENST00000450142.2 - 3 705 c.439G>C c.(439-441)Gag>Cag p.E147Q PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E147Q|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E147Q|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E147Q|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E60Q NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 147 contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 GCCTCCTCCTCCGCAATATCT 0.373000 13 35 0 0 0.500413 0 0 OR4A15 81328 broad.mit.edu 37 11 55135371 55135371 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:55135371G>A ENST00000314706.3 + 1 12 c.12G>A c.(10-12)ctG>ctA p.L4L NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TGGAGCTTCTGACAAATAATC 0.408000 21 66 0 0 0.592651 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95513799 95513799 + RNA SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:95513799C>T ENST00000432432.2 - 0 812 NR_040113.1 TCTTCTGCATCTCGTCCACAC 0.358000 11 807 0 0 0.804634 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74873772 74873772 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:74873772G>A ENST00000289575.5 + 2 484 c.89G>A c.(88-90)gGa>gAa p.G30E SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G8E|SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000526660.1_Intron NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 30 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) AACACACCTGGAGGCAAAGCC 0.577000 111 237 0 0 0.870114 0 0 DNMT3A 1788 broad.mit.edu 37 2 25472531 25472531 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:25472531C>T ENST00000380746.4 - 2 180 c.67G>A c.(67-69)Gat>Aat p.D23N DNMT3A_ENST00000264709.3_Intron|DNMT3A_ENST00000402667.1_Intron|DNMT3A_ENST00000321117.5_Intron NM_153759.3 NP_715640.2 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 63 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) TTCACCGTATCACACTCGTCT 0.498000 """Mis, F, N, S""" AML 20 73 0 0 0.667858 0 0 KATNAL1 84056 broad.mit.edu 37 13 30854258 30854258 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:30854258G>C ENST00000380615.3 - 3 432 c.265C>G c.(265-267)Caa>Gaa p.Q89E KATNAL1_ENST00000380617.3_Missense_Mutation_p.Q89E NM_032116.4 NP_115492.1 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 89 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) GGTTCATCTTGACAGGACACA 0.393000 18 51 0 0 0.557998 0 0 FMNL2 114793 broad.mit.edu 37 2 153415272 153415272 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:153415272G>C ENST00000288670.9 + 5 745 c.378G>C c.(376-378)ctG>ctC p.L126L NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 126 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GAGAATTTCTGAATGAAGAAA 0.368000 8 30 0 0 0.335167 0 0 ZNF791 163049 broad.mit.edu 37 19 12734532 12734532 + Translation_Start_Site SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:12734532G>A ENST00000458122.3 + 0 322 ZNF791_ENST00000540038.1_Intron|ZNF791_ENST00000446165.1_Missense_Mutation_p.D8N|ZNF791_ENST00000343325.4_Missense_Mutation_p.D8N|ZNF490_ENST00000465656.1_Intron Q3KP31 ZN791_HUMAN zinc finger protein 791 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 GGCTTTTGAGGATGTGTCTGT 0.453000 7 248 0 0 0.307466 0 0 RNF219 79596 broad.mit.edu 37 13 79190259 79190259 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:79190259G>A ENST00000282003.6 - 6 1695 c.1637C>T c.(1636-1638)tCa>tTa p.S546L RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 546 Ser-rich. zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GTCTGACTCTGACATCATTGA 0.413000 50 210 0 0 0.870114 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474836 140474836 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:140474836C>G ENST00000194155.4 + 1 610 c.462C>G c.(460-462)ttC>ttG p.F154L NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 154 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAACTACTTTCTTAATAGAAC 0.393000 12 58 0 0 0.457914 0 0 MYH2 4620 broad.mit.edu 37 17 10428570 10428570 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:10428570C>G ENST00000245503.5 - 33 5017 c.4633G>C c.(4633-4635)Gaa>Caa p.E1545Q CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1545Q|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1545 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCCTGAAGTTCACACTTTTCT 0.363000 35 152 0 0 0.796494 0 0 COL4A3 1285 broad.mit.edu 37 2 228128542 228128542 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:228128542G>C ENST00000396578.3 + 21 1359 c.1197G>C c.(1195-1197)ctG>ctC p.L399L AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 399 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGCCAGGCCTGAAAGGAAGTA 0.517000 9 44 0 0 0.307466 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142143878 142143878 + RNA SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:142143878G>C ENST00000390373.2 - 0 117 GCACACAGCAGAGTCATGCTC 0.502000 45 99 0 0 0.864702 0 0 SLC22A11 55867 broad.mit.edu 37 11 64323848 64323848 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:64323848C>G ENST00000301891.4 + 1 751 c.377C>G c.(376-378)tCc>tGc p.S126C SLC22A11_ENST00000377585.3_Missense_Mutation_p.S126C|SLC22A11_ENST00000377581.3_Missense_Mutation_p.S126C|SLC22A11_ENST00000490834.1_3'UTR NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 126 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) GTCTTCACCTCCACCATCGTG 0.627000 14 36 0 0 0.500413 0 0 WIZ 58525 broad.mit.edu 37 19 15547894 15547894 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:15547894G>A ENST00000389282.4 - 4 2532 c.2319C>T c.(2317-2319)ttC>ttT p.F773F WIZ_ENST00000595214.2_5'UTR|WIZ_ENST00000263381.6_Silent_p.F84F O95785 WIZ_HUMAN widely interspaced zinc finger motifs 773 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 CAGCCCCGCAGAAGTCACAGC 0.647000 6 21 0 0 0.217242 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62788529 62788529 + RNA SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:62788529C>T ENST00000582986.1 - 0 2080 NR_024386.1 CCAGGAGCTTCAGCTGCTCCC 0.612000 38 71 0 0 0.864702 0 0 SYT10 341359 broad.mit.edu 37 12 33592455 33592455 + Translation_Start_Site SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:33592455C>T ENST00000228567.3 - 1 299 c.3G>A c.(1-3)atG>atA p.M1I SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 1 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TGTGGAAACTCATCGTTTGGC 0.542000 78 234 0 0 0.870114 0 0 MICAL2 9645 broad.mit.edu 37 11 12183923 12183923 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:12183923C>T ENST00000256194.4 + 3 509 c.221C>T c.(220-222)tCc>tTc p.S74F MICAL2_ENST00000342902.5_Missense_Mutation_p.S74F|MICAL2_ENST00000379612.3_Missense_Mutation_p.S74F|MICAL2_ENST00000537344.1_Missense_Mutation_p.S74F|MICAL2_ENST00000527546.1_Missense_Mutation_p.S74F NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 74 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) AAGCGTGGTTCCCACAAAGAG 0.502000 11 49 0 0 0.361761 0 0 BEGAIN 57596 broad.mit.edu 37 14 101004323 101004323 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:101004323C>T ENST00000556751.1 - 5 4977 c.1573G>A c.(1573-1575)Gga>Aga p.G525R BEGAIN_ENST00000443071.2_Missense_Mutation_p.G589R|BEGAIN_ENST00000355173.2_Missense_Mutation_p.G589R Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 589 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) AGCAAGGTTCCGTAGAGCTGG 0.706000 13 22 0 0 0.435327 0 0 OR2T3 343173 broad.mit.edu 37 1 248637600 248637600 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:248637600G>C ENST00000359594.2 + 1 974 c.949G>C c.(949-951)Gaa>Caa p.E317Q NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 317 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 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) AATGAACCAAGAAAAGTAGTA 0.502000 101 353 0 0 0.870114 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84605884 84605884 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:84605884G>C ENST00000344803.2 + 4 546 c.499G>C c.(499-501)Gag>Cag p.E167Q NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TTCTGCGACTGAGTCATCGTT 0.552000 27 81 0 0 0.706142 0 0 SPTA1 6708 broad.mit.edu 37 1 158621223 158621223 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:158621223G>C ENST00000368148.3 - 24 3591 c.3411C>G c.(3409-3411)atC>atG p.I1137M SPTA1_ENST00000368147.3_Missense_Mutation_p.I1137M NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1137 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTACCTTGTTGATATCCCTTA 0.438000 98 183 0 0 0.870114 0 0 AGAP1 116987 broad.mit.edu 37 2 236949416 236949416 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:236949416G>A ENST00000409538.1 + 14 2954 c.2458G>A c.(2458-2460)Gag>Aag p.E820K AGAP1_ENST00000304032.7_Missense_Mutation_p.E608K|AGAP1_ENST00000336665.5_Missense_Mutation_p.E555K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E447K Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 608 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GAGCCAGAGCGAGGCCATGGC 0.602000 15 58 0 0 0.500413 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643675 37643675 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:37643675G>T ENST00000356958.4 - 5 1384 c.1126C>A c.(1126-1128)Cac>Aac p.H376N ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H321N|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H321N Q6P3V2 Z585A_HUMAN zinc finger protein 585A 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTCCAGTGTGAATTCTCTGA 0.408000 64 134 9.07738e-34 9.81856e-34 0.870114 1 0 KIAA2022 340533 broad.mit.edu 37 X 73961334 73961334 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:73961334C>T ENST00000373468.1 - 3 3709 c.3058G>A c.(3058-3060)Gat>Aat p.D1020N KIAA2022_ENST00000055682.5_Missense_Mutation_p.D1020N Q5QGS0 K2022_HUMAN KIAA2022 1020 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GTGATATCATCATCGCCATCC 0.473000 43 49 0 0 0.840704 0 0 SEC22B 9554 broad.mit.edu 37 1 145109554 145109554 + RNA SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:145109554G>C ENST00000453618.1 + 0 543 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 TGTGTGATTTGGTTTTATGTG 0.413000 17 604 0 0 0.520397 0 0 HERC5 51191 broad.mit.edu 37 4 89421102 89421102 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:89421102G>C ENST00000264350.3 + 19 2623 c.2470G>C c.(2470-2472)Gaa>Caa p.E824Q HERC5_ENST00000508159.1_Missense_Mutation_p.E462Q NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 824 HECT. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TCTGGATGATGAAGGTGATAA 0.289000 29 103 0 0 0.740014 0 0 OR9K2 441639 broad.mit.edu 37 12 55524495 55524495 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:55524495C>G ENST00000305377.5 + 1 1031 c.943C>G c.(943-945)Ctg>Gtg p.L315V NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 GATTTACTCTCTGAGGAACAA 0.343000 69 170 0 0 0.870114 0 0 ABCB1 5243 broad.mit.edu 37 7 87195516 87195516 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:87195516C>G ENST00000265724.3 - 8 989 c.572G>C c.(571-573)gGa>gCa p.G191A ABCB1_ENST00000543898.1_Missense_Mutation_p.G127A NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 191 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AAAGAACATTCCAATTTTGTC 0.363000 5 150 0 0 0.217242 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110476619 110476619 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:110476619G>C ENST00000378402.5 + 49 7662 c.7558G>C c.(7558-7560)Gat>Cat p.D2520H NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2520 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TATTATATATGATATTAAGGG 0.363000 HNSCC(38;0.096) 20 53 0 0 0.592651 0 0 ALPK3 57538 broad.mit.edu 37 15 85360149 85360149 + Silent SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:85360149G>T ENST00000258888.5 + 1 239 c.72G>T c.(70-72)cgG>cgT p.R24R NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 24 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTCAGTCACGGCTGGTGCCAG 0.662000 6 22 8.12818e-05 8.3519e-05 0.248553 1 0 JAKMIP1 152789 broad.mit.edu 37 4 6114560 6114560 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:6114560C>G ENST00000409021.3 - 2 467 c.18G>C c.(16-18)cgG>cgC p.R6R JAKMIP1_ENST00000410077.2_Silent_p.R6R|JAKMIP1_ENST00000409831.1_Silent_p.R6R|JAKMIP1_ENST00000409371.3_Silent_p.R6R|JAKMIP1_ENST00000282924.5_Silent_p.R6R|JAKMIP1_ENST00000457227.2_Intron NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 6 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CGCCCTTGCTCCGGCCTTTCT 0.632000 24 44 0 0 0.681144 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123126144 123126144 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:123126144G>C ENST00000368440.4 + 6 1006 c.829G>C c.(829-831)Gat>Cat p.D277H SMPDL3A_ENST00000539041.1_Missense_Mutation_p.D146H NM_006714.3 NP_006705.1 Q92484 ASM3A_HUMAN sphingomyelin phosphodiesterase, acid-like 3A 277 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(226;0.236) GAAATTGATAGATATTTTTCA 0.348000 7 227 0 0 0.248553 0 0 TFAP4 7023 broad.mit.edu 37 16 4310485 4310485 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:4310485C>T ENST00000204517.6 - 5 965 c.637G>A c.(637-639)Gag>Aag p.E213K NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 213 Gln-rich. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 tgttcccgctccagcttctcc 0.647000 4 14 0 0 0.307466 0 0 TRPV1 7442 broad.mit.edu 37 17 3494413 3494413 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:3494413G>C ENST00000174621.6 - 3 732 c.443C>G c.(442-444)tCa>tGa p.S148* TRPV1_ENST00000571088.1_Intron|SHPK_ENST00000572705.1_Intron|TRPV1_ENST00000399756.4_Intron|TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000399759.3_Intron|TRPV1_ENST00000576351.1_Intron|TRPV1_ENST00000425167.2_Intron Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 0 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CTCAGGGTCTGAAAGACATAA 0.622000 9 23 0 0 0.307466 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232601014 232601014 + Silent SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:232601014G>T ENST00000366630.1 - 8 2750 c.2392C>A c.(2392-2394)Cga>Aga p.R798R SIPA1L2_ENST00000262861.4_Silent_p.R798R Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 798 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.R798*(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GCCATTGCTCGAAACTTTTCT 0.468000 30 194 2.47316e-13 2.60199e-13 0.779181 1 0 NRXN3 9369 broad.mit.edu 37 14 79181351 79181351 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:79181351C>G ENST00000554719.1 + 5 1285 c.794C>G c.(793-795)tCc>tGc p.S265C NRXN3_ENST00000335750.5_Missense_Mutation_p.S265C NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 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) GTCAAGTCCTCCTGTTCACGG 0.562000 3 118 0 0 0.115264 0 0 MYLK3 91807 broad.mit.edu 37 16 46763019 46763019 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:46763019G>A ENST00000394809.4 - 7 1804 c.1689C>T c.(1687-1689)atC>atT p.I563I MYLK3_ENST00000536476.1_Silent_p.I222I NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 563 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GCTGGTTCATGATGTTGATCT 0.537000 35 101 0 0 0.812448 0 0 MSTN 2660 broad.mit.edu 37 2 190927053 190927053 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:190927053C>G ENST00000260950.4 - 1 402 c.270G>C c.(268-270)ctG>ctC p.L90L C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 90 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) ACTGATCAATCAGTTCCCGGA 0.438000 11 126 0 0 0.361761 0 0 DYM 54808 broad.mit.edu 37 18 46905007 46905007 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:46905007G>A ENST00000269445.6 - 5 808 c.351C>T c.(349-351)ttC>ttT p.F117F DYM_ENST00000578396.1_5'UTR|DYM_ENST00000442713.2_Intron NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 117 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 TCTGACAGATGAACACTTTCA 0.323000 20 40 0 0 0.654019 0 0 ZNF608 57507 broad.mit.edu 37 5 123983566 123983566 + Silent SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:123983566C>A ENST00000306315.5 - 4 2946 c.2511G>T c.(2509-2511)ggG>ggT p.G837G ZNF608_ENST00000504926.1_Silent_p.G410G NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 837 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CCTCTAGTTTCCCCAGCTTGG 0.463000 91 263 8.03987e-26 8.60566e-26 0.870114 1 0 CC2D1B 200014 broad.mit.edu 37 1 52821958 52821958 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:52821958G>C ENST00000371586.2 - 18 2110 c.1972C>G c.(1972-1974)Cag>Gag p.Q658E CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q652E|CC2D1B_ENST00000438831.1_Missense_Mutation_p.Q33E NM_032449.2 NP_115825.1 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 658 breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 TTGCGGTCCTGAGCAAGCTTC 0.572000 64 299 0 0 0.870114 0 0 CCNB1IP1 57820 broad.mit.edu 37 14 20781915 20781915 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:20781915C>G ENST00000398169.3 - 6 959 c.343G>C c.(343-345)Gag>Cag p.E115Q CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.E115Q Q9NPC3 CIP1_HUMAN cyclin B1 interacting protein 1, E3 ubiquitin protein ligase 115 chromosome|nucleus ligase activity|metal ion binding|protein binding HMGA2/CCNB1IP1(2) breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;8.86e-07)|all cancers(55;4.98e-06) GBM - Glioblastoma multiforme(265;0.0164) AGATGGCCCTCAGCCTTGCTG 0.373000 T HMGA2 leiomyoma 112 77 0 0 0.870114 0 0 TARSL2 123283 broad.mit.edu 37 15 102264441 102264441 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:102264441G>C ENST00000335968.3 - 1 366 c.150C>G c.(148-150)ctC>ctG p.L50L NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 50 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCTCCCGCGTGAGGCACGGCC 0.736000 6 10 0 0 0.217242 0 0 ZNF462 58499 broad.mit.edu 37 9 109691062 109691062 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:109691062G>A ENST00000277225.5 + 3 5158 c.4869G>A c.(4867-4869)atG>atA p.M1623I ZNF462_ENST00000457913.1_Missense_Mutation_p.M1623I|ZNF462_ENST00000441147.2_Missense_Mutation_p.M468I Q96JM2 ZN462_HUMAN zinc finger protein 462 1623 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AGCCCGAGATGACCACTGAAG 0.547000 34 131 0 0 0.870114 0 0 SIDT1 54847 broad.mit.edu 37 3 113286437 113286437 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:113286437C>T ENST00000264852.4 + 3 1121 c.395C>T c.(394-396)tCa>tTa p.S132L SIDT1_ENST00000393830.3_Missense_Mutation_p.S132L NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 132 integral to membrane p.S132L(1) breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 TTATGTCCCTCAGAAGCAACC 0.473000 135 169 0 0 0.870114 0 0 DHX37 57647 broad.mit.edu 37 12 125449160 125449160 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:125449160G>A ENST00000308736.2 - 15 1923 c.1825C>T c.(1825-1827)Cca>Tca p.P609S DHX37_ENST00000544745.1_Missense_Mutation_p.P396S NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 609 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCCTCCGGTGGAGGCTTAAAG 0.547000 19 61 0 0 0.592651 0 0 KCND2 3751 broad.mit.edu 37 7 119915729 119915729 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:119915729G>T ENST00000331113.4 + 1 2008 c.1043G>T c.(1042-1044)gGg>gTg p.G348V NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 348 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GCAGAGAAGGGGTCTTCGGCT 0.493000 36 145 9.85521e-28 1.05671e-27 0.819951 1 0 KIAA0947 23379 broad.mit.edu 37 5 5461061 5461061 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:5461061G>A ENST00000296564.7 + 13 1836 c.1614G>A c.(1612-1614)agG>agA p.R538R NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 538 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 TTGGCAAAAGGCCATTAAATG 0.448000 74 267 0 0 0.870114 0 0 PAQR9 344838 broad.mit.edu 37 3 142681653 142681653 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:142681653G>C ENST00000340634.3 - 1 525 c.526C>G c.(526-528)Ctg>Gtg p.L176V NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 176 integral to membrane receptor activity endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 CCTGGCAACAGGTAGTAGTAG 0.622000 4 45 0 0 0.150653 0 0 SOX30 11063 broad.mit.edu 37 5 157078561 157078561 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:157078561C>G ENST00000265007.6 - 1 867 c.526G>C c.(526-528)Ggc>Cgc p.G176R SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.G176R NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 176 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGGAAGTAGCCGAGGGCCGGC 0.677000 55 93 0 0 0.870114 0 0 RBBP8 5932 broad.mit.edu 37 18 20596847 20596847 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:20596847G>C ENST00000399722.2 + 17 2765 c.2414G>C c.(2413-2415)aGa>aCa p.R805T RBBP8_ENST00000327155.5_Missense_Mutation_p.R805T|RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000360790.5_Missense_Mutation_p.R810T|RBBP8_ENST00000399725.2_Intron NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 805 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) AAAGAGGAGAGAAGAAAACTG 0.338000 Homologous recombination 19 102 0 0 0.624587 0 0 CCDC97 90324 broad.mit.edu 37 19 41825513 41825513 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:41825513C>G ENST00000269967.3 + 3 659 c.537C>G c.(535-537)ttC>ttG p.F179L NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 179 biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 AGATGCGGTTCCGGGCCCCCC 0.627000 34 158 0 0 0.827153 0 0 FKBP4 2288 broad.mit.edu 37 12 2907035 2907035 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:2907035G>C ENST00000001008.4 + 3 578 c.391G>C c.(391-393)Gag>Cag p.E131Q RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA NM_002014.3 NP_002005.1 Q02790 FKBP4_HUMAN FK506 binding protein 4, 59kDa 131 PPIase FKBP-type 1. negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) GCTTGTATTTGAGGTGAGTGT 0.552000 50 156 0 0 0.870114 0 0 MAP1A 4130 broad.mit.edu 37 15 43815427 43815427 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:43815427G>A ENST00000382031.1 + 5 2501 c.2470G>A c.(2470-2472)Gaa>Aaa p.E824K MAP1A_ENST00000399453.1_Missense_Mutation_p.E586K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E586K P78559 MAP1A_HUMAN microtubule-associated protein 1A 586 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GCTGGGACAAGAAGAACATGT 0.542000 16 33 0 0 0.500413 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955404 18955404 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:18955404C>G ENST00000302797.3 - 1 1152 c.928G>C c.(928-930)Gag>Cag p.E310Q NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 310 EEI -> QET (in Ref. 2; AAL86880). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGGATTTCCTCAGGAAGCTGC 0.572000 40 83 0 0 0.812448 0 0 IDH3B 3420 broad.mit.edu 37 20 2640908 2640908 + Splice_Site SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:2640908C>T ENST00000380843.4 - 8 799 c.e8+1 IDH3B_ENST00000488299.1_Splice_Site|IDH3B_ENST00000380851.5_Splice_Site NM_006899.3 NP_008830.2 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3 (NAD+) beta isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1) 14 NADH(DB00157) GGAGGCCTCACCTGCATGCAG 0.517000 14 48 0 0 0.457914 0 0 LHX4 89884 broad.mit.edu 37 1 180243597 180243597 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:180243597G>C ENST00000263726.2 + 6 1300 c.1056G>C c.(1054-1056)ctG>ctC p.L352L RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 352 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 GCCAGACGCTGAGAGCCATGG 0.572000 46 296 0 0 0.870114 0 0 LPA 4018 broad.mit.edu 37 6 160977188 160977188 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:160977188C>T ENST00000447678.1 - 31 4962 c.4842G>A c.(4840-4842)cgG>cgA p.R1614R LPA_ENST00000316300.5_Silent_p.R1614R NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4122 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GGTAGCACTGCCGGACCACAG 0.468000 4 161 0 0 0.184627 0 0 ZHX3 23051 broad.mit.edu 37 20 39832032 39832032 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:39832032G>C ENST00000309060.3 - 4 1940 c.1525C>G c.(1525-1527)Ctg>Gtg p.L509V ZHX3_ENST00000544979.2_Missense_Mutation_p.L509V|ZHX3_ENST00000432768.2_Missense_Mutation_p.L509V|ZHX3_ENST00000560361.1_Missense_Mutation_p.L509V|ZHX3_ENST00000559234.1_Missense_Mutation_p.L509V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.L509V|ZHX3_ENST00000557816.1_Intron Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 509 Required for nuclear localization. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CTCCCTTTCAGAGCTGACAGC 0.527000 18 77 0 0 0.557998 0 0 NRXN1 9378 broad.mit.edu 37 2 51254859 51254859 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:51254859G>C ENST00000404971.1 - 2 1892 c.553C>G c.(553-555)Cgt>Ggt p.R185G NRXN1_ENST00000401669.2_Missense_Mutation_p.R185G|NRXN1_ENST00000402717.3_Missense_Mutation_p.R185G|NRXN1_ENST00000405472.3_Missense_Mutation_p.R185G|NRXN1_ENST00000406316.2_Missense_Mutation_p.R185G|NRXN1_ENST00000406859.3_Missense_Mutation_p.R185G|NRXN1_ENST00000405581.1_Missense_Mutation_p.R185G NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 185 Laminin G-like 1. 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) CTCACGTCACGAATCCACCCC 0.706000 3 10 0 0 0.115264 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166918077 166918077 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:166918077G>A ENST00000510118.1 - 8 898 c.558C>T c.(556-558)gtC>gtT p.V186V RPS6KA2_ENST00000405189.3_Silent_p.V72V|RPS6KA2_ENST00000503859.1_Silent_p.V169V|RPS6KA2_ENST00000366863.2_Silent_p.V7V|RPS6KA2_ENST00000265678.4_Silent_p.V161V|RPS6KA2_ENST00000481261.2_Silent_p.V72V Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 161 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) GGTAGAACTTGACATCCTCCT 0.413000 52 119 0 0 0.870114 0 0 CECR6 27439 broad.mit.edu 37 22 17601079 17601079 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:17601079G>A ENST00000331437.3 - 1 1064 c.939C>T c.(937-939)ttC>ttT p.F313F CECR6_ENST00000399875.1_Intron NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 313 Ala-rich. haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) CCAGGTAGGCGAAGGCGAACT 0.736000 24 64 0 0 0.654019 0 0 COL6A6 131873 broad.mit.edu 37 3 130281985 130281985 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:130281985G>A ENST00000358511.6 + 2 169 c.138G>A c.(136-138)gtG>gtA p.V46V COL6A6_ENST00000453409.2_Silent_p.V46V NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 46 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TCCCATTTGTGAAAATGTTCA 0.473000 5 343 0 0 0.248553 0 0 HS1BP3 64342 broad.mit.edu 37 2 20818831 20818831 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:20818831C>T ENST00000304031.3 - 7 1120 c.1095G>A c.(1093-1095)caG>caA p.Q365Q NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 365 cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGCTTGGATCTGCTCCTGCG 0.622000 22 85 0 0 0.853193 0 0 HTR3B 9177 broad.mit.edu 37 11 113816676 113816676 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:113816676C>T ENST00000260191.2 + 9 1400 c.1143C>T c.(1141-1143)gtC>gtT p.V381V HTR3B_ENST00000537778.1_Silent_p.V370V NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 381 HA-stretch. synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TGAAGGAAGTCTGGTCGCAGC 0.572000 23 56 0 0 0.639603 0 0 NUP160 23279 broad.mit.edu 37 11 47819408 47819408 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:47819408C>G ENST00000378460.2 - 27 3258 c.3212G>C c.(3211-3213)aGa>aCa p.R1071T NUP160_ENST00000528071.1_Missense_Mutation_p.R957T|NUP160_ENST00000530326.1_Missense_Mutation_p.R957T NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 1071 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 GTCCACAGCTCTAGCACGTGA 0.438000 35 138 0 0 0.796494 0 0 MAP3K10 4294 broad.mit.edu 37 19 40698342 40698342 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:40698342C>T ENST00000253055.3 + 1 692 c.404C>T c.(403-405)cCg>cTg p.P135L MAP3K10_ENST00000593906.1_3'UTR NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 135 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GAGAAGGACCCGGCAGTGACA 0.662000 12 67 0 0 0.387290 0 0 RASL11B 65997 broad.mit.edu 37 4 53731941 53731941 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:53731941C>A ENST00000248706.3 + 4 934 c.716C>A c.(715-717)tCt>tAt p.S239Y RASL11B_ENST00000505041.1_3'UTR NM_023940.2 NP_076429.1 Q9BPW5 RSLBB_HUMAN RAS-like, family 11, member B 239 Small GTPase-like. small GTPase mediated signal transduction membrane GTP binding|GTPase activity autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1) 9 LUSC - Lung squamous cell carcinoma(32;0.0302) CAAGCCCTCTCTGCCAAAGTG 0.567000 21 62 4.26978e-12 4.4693e-12 0.654019 1 0 ZMAT1 84460 broad.mit.edu 37 X 101139594 101139594 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:101139594C>G ENST00000372782.3 - 7 852 c.805G>C c.(805-807)Gaa>Caa p.E269Q ZMAT1_ENST00000540921.1_Missense_Mutation_p.E269Q|ZMAT1_ENST00000458570.1_Missense_Mutation_p.E98Q|ZMAT1_ENST00000494068.1_5'UTR NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 98 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 AGTCTTTGTTCAAACATTCTA 0.413000 80 56 0 0 0.870114 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452225 43452225 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:43452225C>G ENST00000282388.3 - 2 1011 c.718G>C c.(718-720)Gat>Cat p.D240H THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 240 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D240N(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) TGCAACGCATCGCGCGTGCCA 0.746000 6 16 0 0 0.278610 0 0 SLC47A1 55244 broad.mit.edu 37 17 19470501 19470501 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:19470501C>T ENST00000270570.4 + 14 1355 c.1269C>T c.(1267-1269)atC>atT p.I423I SLC47A1_ENST00000571335.1_Silent_p.I228I|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Silent_p.I423I|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Silent_p.I400I|SLC47A1_ENST00000457293.1_Silent_p.I423I NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 423 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) GCCTCCCCATCGGGATCGCGC 0.557000 90 198 0 0 0.870114 0 0 ITSN2 50618 broad.mit.edu 37 2 24440837 24440837 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:24440837C>G ENST00000355123.4 - 31 4188 c.3745G>C c.(3745-3747)Gag>Cag p.E1249Q ITSN2_ENST00000361999.3_Missense_Mutation_p.E1222Q|AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1249 DH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGGCCATCTCCCCTTCAGTG 0.463000 35 84 0 0 0.819951 0 0 RNF216 54476 broad.mit.edu 37 7 5662575 5662575 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:5662575G>A ENST00000425013.2 - 17 2741 c.2517C>T c.(2515-2517)gtC>gtT p.V839V RNF216_ENST00000389902.3_Silent_p.V896V|RNF216_ENST00000469375.1_5'UTR NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 839 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) AGTCATAGTTGACCCGCACGT 0.642000 75 203 0 0 0.870114 0 0 MICALL2 79778 broad.mit.edu 37 7 1486399 1486399 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:1486399C>G ENST00000297508.7 - 5 766 c.591G>C c.(589-591)ctG>ctC p.L197L MICALL2_ENST00000405088.4_Intron NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 197 LIM zinc-binding. cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GCCGCTGTACCAGGTGCACGT 0.677000 3 24 0 0 0.150653 0 0 ERBB3 2065 broad.mit.edu 37 12 56495415 56495415 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:56495415G>A ENST00000267101.3 + 28 4045 c.3605G>A c.(3604-3606)cGg>cAg p.R1202Q ERBB3_ENST00000553131.1_Missense_Mutation_p.R443Q|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000450146.2_Missense_Mutation_p.R559Q|ERBB3_ENST00000549832.1_Missense_Mutation_p.R322Q|ERBB3_ENST00000415288.2_Missense_Mutation_p.R1143Q NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1202 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TACATGAACCGGAGGAGAAGG 0.537000 38 88 0 0 0.796494 0 0 CPS1 1373 broad.mit.edu 37 2 211518779 211518779 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:211518779G>C ENST00000233072.5 + 29 3707 c.3511G>C c.(3511-3513)Gaa>Caa p.E1171Q CPS1_ENST00000430249.2_Missense_Mutation_p.E1177Q|CPS1_ENST00000451903.2_Missense_Mutation_p.E720Q NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1171 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AAAATTTGTTGAAGGGGCCCG 0.438000 21 99 0 0 0.608945 0 0 HNF1B 6928 broad.mit.edu 37 17 36104543 36104543 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:36104543G>A ENST00000225893.4 - 1 694 c.333C>T c.(331-333)gaC>gaT p.D111D HNF1B_ENST00000561193.1_Silent_p.D111D|HNF1B_ENST00000560016.1_Silent_p.D111D|HNF1B_ENST00000427275.2_Silent_p.D111D NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 111 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TGAGCATCCGGTCCACCTCCG 0.706000 28 81 0 0 0.717897 0 0 WDR78 79819 broad.mit.edu 37 1 67340502 67340502 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:67340502G>A ENST00000371026.3 - 5 817 c.762C>T c.(760-762)gtC>gtT p.V254V WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Silent_p.V254V|WDR78_ENST00000371023.3_Silent_p.V254V NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 254 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CAGAGACCATGACTGTGGGCA 0.373000 49 151 0 0 0.870114 0 0 MTG1 92170 broad.mit.edu 37 10 135212703 135212703 + Silent SNP G G C rs142057422 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:135212703G>C ENST00000468317.2 + 6 663 c.408G>C c.(406-408)ggG>ggC p.G136G MTG1_ENST00000317502.6_Silent_p.G131G|MTG1_ENST00000477902.2_Silent_p.G90G AACTGATTGGGAGAAGCCACC 0.632000 29 29 0 0 0.788014 0 0 ASB1 51665 broad.mit.edu 37 2 239342304 239342304 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:239342304C>T ENST00000264607.4 + 2 406 c.159C>T c.(157-159)ctC>ctT p.L53L ASB1_ENST00000409297.1_Silent_p.L53L|ASB1_ENST00000469885.1_3'UTR NM_001040445.1 NP_001035535.1 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box containing 1 53 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) TCCAGACCCTCAGGAGCCTAT 0.607000 24 64 0 0 0.729181 0 0 TMEM2 23670 broad.mit.edu 37 9 74365160 74365160 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:74365160G>A ENST00000377044.4 - 2 669 c.130C>T c.(130-132)Caa>Taa p.Q44* TMEM2_ENST00000377066.5_Nonsense_Mutation_p.Q44* NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 44 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GCTGAAGCTTGACTCTTTGGA 0.507000 30 109 0 0 0.750413 0 0 SLC22A7 10864 broad.mit.edu 37 6 43266316 43266316 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:43266316G>T ENST00000372585.5 + 1 315 c.220G>T c.(220-222)Gat>Tat p.D74Y SLC22A7_ENST00000372589.3_Missense_Mutation_p.D74Y|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372574.3_Missense_Mutation_p.D74Y NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 74 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CCGGGAGCCTGATGGCACGCT 0.662000 34 64 1.26612e-14 1.33549e-14 0.779181 1 0 PI4KAP1 728233 broad.mit.edu 37 22 20394559 20394559 + RNA SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:20394559C>G ENST00000430523.3 - 0 636 NR_003563.1 TTAAAGAAATCAAACTCCCGC 0.522000 21 90 0 0 0.639603 0 0 TTN 7273 broad.mit.edu 37 2 179639765 179639765 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:179639765C>G ENST00000589042.1 - 29 6897 c.6673G>C c.(6673-6675)Gac>Cac p.D2225H TTN_ENST00000460472.2_Missense_Mutation_p.D2179H|TTN_ENST00000360870.5_Missense_Mutation_p.D2225H|TTN_ENST00000591111.1_Missense_Mutation_p.D2225H|TTN_ENST00000342175.6_Missense_Mutation_p.D2179H|TTN_ENST00000342992.6_Missense_Mutation_p.D2225H|TTN_ENST00000359218.5_Missense_Mutation_p.D2179H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1962 Ig-like 11. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCTTTCTGTCAGAGTGCATC 0.408000 28 99 0 0 0.706142 0 0 INADL 10207 broad.mit.edu 37 1 62455875 62455875 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:62455875G>C ENST00000371158.2 + 28 3820 c.3706G>C c.(3706-3708)Gaa>Caa p.E1236Q INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.E20Q|INADL_ENST00000316485.6_Missense_Mutation_p.E1236Q NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1236 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TCTGCCTGGAGAACTGCACAT 0.343000 17 90 0 0 0.500413 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94881322 94881322 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:94881322C>G ENST00000289495.5 + 10 2695 c.2479C>G c.(2479-2481)Caa>Gaa p.Q827E PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Q849E|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.Q827E NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 827 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AAATGGGACTCAAGTTAACAA 0.398000 HNSCC(28;0.073) 21 90 0 0 0.608945 0 0 CHD1L 9557 broad.mit.edu 37 1 146763163 146763163 + Splice_Site SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:146763163G>C ENST00000369258.4 + 20 2340 c.e20-1 CHD1L_ENST00000361293.5_Splice_Site|CHD1L_ENST00000431239.1_Splice_Site|CHD1L_ENST00000467213.1_Splice_Site|CHD1L_ENST00000369259.3_Splice_Site NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) TTTTACCTCAGACCTGAGTTT 0.398000 16 102 0 0 0.520397 0 0 ETV6 2120 broad.mit.edu 37 12 12022535 12022535 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:12022535C>A ENST00000396373.4 + 5 915 c.641C>A c.(640-642)cCg>cAg p.P214Q NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 214 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CGCCTCTCCCCGGCTGAGAGA 0.637000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 4 232 0.150653 0.152135 0.150653 1 0 ZNF148 7707 broad.mit.edu 37 3 124951513 124951513 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:124951513G>C ENST00000360647.4 - 9 2542 c.2057C>G c.(2056-2058)tCa>tGa p.S686* ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Nonsense_Mutation_p.S686*|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Nonsense_Mutation_p.S686*|ZNF148_ENST00000484491.1_Nonsense_Mutation_p.S686* NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 686 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 AAAGGGAAATGAGTGCTGTGA 0.448000 71 282 0 0 0.870114 0 0 MUC16 94025 broad.mit.edu 37 19 9068706 9068706 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:9068706G>C ENST00000397910.4 - 3 18943 c.18740C>G c.(18739-18741)tCt>tGt p.S6247C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6249 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 AGAAACAAGAGAGGAGGTACT 0.483000 34 80 0 0 0.769981 0 0 PTDSS1 9791 broad.mit.edu 37 8 97316403 97316403 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:97316403C>G ENST00000517309.1 + 7 1214 c.888C>G c.(886-888)atC>atG p.I296M PTDSS1_ENST00000455950.2_Missense_Mutation_p.I150M|PTDSS1_ENST00000522072.1_Missense_Mutation_p.I93M NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 296 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TCATGATCATCTGGCAGGTAT 0.378000 4 388 0 0 0.150653 0 0 DRD5 1816 broad.mit.edu 37 4 9784235 9784235 + Silent SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:9784235A>G ENST00000304374.2 + 1 978 c.582A>G c.(580-582)ccA>ccG p.P194P NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 194 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) TGGACCTGCCAAACAACCTGG 0.607000 38 49 0 0 0.804634 0 0 SPTBN4 57731 broad.mit.edu 37 19 41074133 41074133 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:41074133G>C ENST00000352632.3 + 31 6987 c.6901G>C c.(6901-6903)Gag>Cag p.E2301Q SPTBN4_ENST00000392025.1_Missense_Mutation_p.E1044Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E2301Q Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2301 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGGCGCTTGGAGCGGCAGGA 0.667000 2 9 0 0 0.115264 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149857978 149857978 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:149857978G>C ENST00000369155.2 - 1 254 c.213C>G c.(211-213)ttC>ttG p.F71L NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 71 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.F71L(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CGATGCGCTCGAAGATGTCGT 0.622000 83 168 0 0 0.870114 0 0 ALMS1 7840 broad.mit.edu 37 2 73651682 73651682 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:73651682C>T ENST00000264448.6 + 5 1000 c.889C>T c.(889-891)Cag>Tag p.Q297* ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q255*|ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Q297* NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 297 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TAGTGTATCTCAGCACCCGCT 0.448000 17 46 0 0 0.539581 0 0 PARPBP 55010 broad.mit.edu 37 12 102572517 102572517 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:102572517C>T ENST00000327680.2 + 9 1373 c.910C>T c.(910-912)Cat>Tat p.H304Y PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.H462Y|PARPBP_ENST00000392911.2_Missense_Mutation_p.H304Y|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.H385Y NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 385 response to DNA damage stimulus cytoplasm|nucleus DNA binding p.H304Y(1)|p.H385Y(1) endometrium(1)|lung(8)|urinary_tract(2) 11 CACAATCCATCATCATGGAAC 0.323000 21 58 0 0 0.608945 0 0 PTN 5764 broad.mit.edu 37 7 137028320 137028320 + Translation_Start_Site SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:137028320G>C ENST00000348225.2 - 0 291 PTN_ENST00000393083.2_De_novo_Start_OutOfFrame NM_002825.5 NP_002816.1 P21246 PTN_HUMAN pleiotrophin nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 CTTCTGGACGGATGACTCACT 0.607000 21 66 0 0 0.639603 0 0 PPP6R1 22870 broad.mit.edu 37 19 55756738 55756738 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:55756738G>A ENST00000412770.2 - 4 1013 c.447C>T c.(445-447)ttC>ttT p.F149F PPP6R1_ENST00000587283.1_Silent_p.F149F NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 149 Interaction with PPP6C. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 GCAGGTCCACGAAGTCATCCT 0.647000 8 16 0 0 0.335167 0 0 SNRPN 6638 broad.mit.edu 37 15 25223557 25223557 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:25223557C>T ENST00000444203.2 + 8 1740 c.701C>T c.(700-702)cCa>cTa p.P234L SNRPN_ENST00000554227.2_Missense_Mutation_p.P234L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P230L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P230L|SNRPN_ENST00000400097.1_Missense_Mutation_p.P230L|SNRPN_ENST00000400100.1_Missense_Mutation_p.P230L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P230L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P230L|SNURF_ENST00000338094.6_3'UTR P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 230 Repeat-rich region. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) TTTCCAGGTCCACCTCCCCCA 0.473000 Prader-Willi syndrome 85 285 0 0 0.870114 0 0 DOCK8 81704 broad.mit.edu 37 9 376246 376246 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:376246G>A ENST00000432829.2 + 19 2258 c.1942G>A c.(1942-1944)Gaa>Aaa p.E648K DOCK8_ENST00000453981.1_Missense_Mutation_p.E716K|DOCK8_ENST00000382331.1_Missense_Mutation_p.E18K|DOCK8_ENST00000469391.1_Missense_Mutation_p.E648K|DOCK8_ENST00000382329.1_Missense_Mutation_p.E183K NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 716 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TAAGTGGGCTGAAGGACATAA 0.378000 7 152 0 0 0.278610 0 0 PTEN 5728 broad.mit.edu 37 10 89624268 89624268 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:89624268G>T ENST00000371953.3 + 1 1399 c.42G>T c.(40-42)agG>agT p.R14S NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 14 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(13)|p.R14fs*29(1)|p.R14fs*26(1)|p.I8_R14>LRLICIF(1)|p.N12fs*6(1)|p.R14_D22del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GAAACAAAAGGAGATATCAAG 0.478000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 61 56 6.2918e-36 6.8235e-36 0.870114 1 0 SLC29A4 222962 broad.mit.edu 37 7 5340094 5340094 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:5340094G>C ENST00000396872.2 + 10 1412 c.1251G>C c.(1249-1251)ctG>ctC p.L417L SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Silent_p.L403L|SLC29A4_ENST00000297195.4_Silent_p.L417L NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 417 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) GCACCCACCTGCTGGCCTGCT 0.706000 28 68 0 0 0.760397 0 0 MAN2A1 4124 broad.mit.edu 37 5 109181672 109181672 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:109181672C>G ENST00000261483.4 + 18 3859 c.2807C>G c.(2806-2808)tCt>tGt p.S936C NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 936 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) ACACTGCTCTCTGCTCAGTCA 0.413000 8 299 0 0 0.387290 0 0 CACNA1I 8911 broad.mit.edu 37 22 40060842 40060842 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:40060842C>G ENST00000336649.4 + 24 3783 c.3783C>G c.(3781-3783)atC>atG p.I1261M CACNA1I_ENST00000407673.1_Missense_Mutation_p.I1220M|CACNA1I_ENST00000402142.3_Missense_Mutation_p.I1255M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I1255M|CACNA1I_ENST00000400164.3_Missense_Mutation_p.I1220M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I1220M Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1255 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) TCATCGACATCGTGGTGTCCC 0.642000 11 61 0 0 0.361761 0 0 DCDC1 341019 broad.mit.edu 37 11 31312293 31312293 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:31312293C>T ENST00000597505.1 - 5 860 c.861G>A c.(859-861)aaG>aaA p.K287K DCDC1_ENST00000452803.1_Silent_p.K287K P59894 DCDC1_HUMAN doublecortin domain containing 1 287 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CAGTAAGTTTCTTCATTCTAA 0.388000 38 94 0 0 0.834066 0 0 C19orf35 374872 broad.mit.edu 37 19 2275792 2275792 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:2275792C>G ENST00000342063.3 - 4 1402 c.1309G>C c.(1309-1311)Gag>Cag p.E437Q NM_198532.2 NP_940934.1 Q6ZS72 CS035_HUMAN chromosome 19 open reading frame 35 437 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 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) GCGGCCCGCTCTGCTAGGCGC 0.741000 3 5 0 0 0.150653 0 0 ATRN 8455 broad.mit.edu 37 20 3581669 3581669 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:3581669C>G ENST00000262919.5 + 23 3709 c.3641C>G c.(3640-3642)tCa>tGa p.S1214* ATRN_ENST00000446916.2_Nonsense_Mutation_p.S1214* NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1214 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GCCAGTTTCTCAGGTAAAGAC 0.423000 7 126 0 0 0.307466 0 0 GSKIP 51527 broad.mit.edu 37 14 96848583 96848583 + Splice_Site SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:96848583G>A ENST00000556095.1 + 3 1811 c.e3-1 GSKIP_ENST00000438650.1_Splice_Site|GSKIP_ENST00000554182.1_Splice_Site|GSKIP_ENST00000555181.1_Splice_Site NM_001271904.1 NP_001258833.1 GSK3B interacting protein TTTTTTTACAGAATGGAAACA 0.333000 34 31 0 0 0.788014 0 0 MACF1 23499 broad.mit.edu 37 1 39806314 39806314 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:39806314G>C ENST00000564288.1 + 39 11133 c.10356G>C c.(10354-10356)caG>caC p.Q3452H MACF1_ENST00000372915.3_Missense_Mutation_p.Q3457H|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.Q3489H|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.Q1892H|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3457 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAATCTTCAGAAGTCTCTCA 0.433000 17 70 0 0 0.557998 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87151798 87151798 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:87151798G>C ENST00000285393.3 + 3 557 c.415G>C c.(415-417)Gaa>Caa p.E139Q CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 139 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 CACAGAAATGGAAGCTGTCAA 0.428000 38 226 0 0 0.834066 0 0 OASL 8638 broad.mit.edu 37 12 121469368 121469368 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:121469368G>C ENST00000257570.5 - 3 804 c.534C>G c.(532-534)atC>atG p.I178M OASL_ENST00000339275.5_Missense_Mutation_p.I178M NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 178 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) CGCAGGCCTTGATCAGGCTCA 0.557000 45 86 0 0 0.853193 0 0 HEG1 57493 broad.mit.edu 37 3 124732246 124732246 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:124732246G>C ENST00000311127.4 - 6 2244 c.2177C>G c.(2176-2178)tCt>tGt p.S726C NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 726 Ser-rich. extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GGCAGATGTAGATGTCGTTAA 0.502000 42 176 0 0 0.847076 0 0 POTEC 388468 broad.mit.edu 37 18 14542978 14542978 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:14542978C>T ENST00000358970.5 - 1 167 c.168G>A c.(166-168)atG>atA p.M56I POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 56 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGCTCCTGAGCATCTTCATAA 0.587000 59 621 0 0 0.870114 0 0 BMP5 653 broad.mit.edu 37 6 55638959 55638959 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:55638959G>C ENST00000370830.3 - 4 1613 c.915C>G c.(913-915)ttC>ttG p.F305L BMP5_ENST00000446683.2_Missense_Mutation_p.F305L NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 305 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CACTCGCCTTGAAGAAGGCCA 0.453000 126 221 0 0 0.870114 0 0 TP53 7157 broad.mit.edu 37 17 7577556 7577556 + Missense_Mutation SNP C C A rs121912655 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:7577556C>A ENST00000420246.2 - 7 857 c.725G>T c.(724-726)tGc>tTc p.C242F TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000269305.4_Missense_Mutation_p.C242F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 242 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCGCCCATGCAGGAACTGTT 0.577000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 46 1.30475e-32 1.40881e-32 0.847076 1 0 PNLIPRP2 5408 broad.mit.edu 37 10 118386480 118386480 + RNA SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:118386480G>C ENST00000537242.1 + 0 462 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity p.E146*(2) endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) TGTTGGGGCGGAGACAGCTTT 0.577000 15 16 0 0 0.500413 0 0 MBTPS1 8720 broad.mit.edu 37 16 84125404 84125404 + Missense_Mutation SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:84125404T>C ENST00000343411.3 - 7 1391 c.896A>G c.(895-897)aAg>aGg p.K299R MBTPS1_ENST00000569770.1_5'UTR NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 299 Serine protease. cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GTCGATCTTCTTTAAAATGGC 0.423000 15 83 0 0 0.500413 0 0 MORC1 27136 broad.mit.edu 37 3 108812388 108812388 + Splice_Site SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:108812388C>T ENST00000232603.5 - 8 666 c.583_splice c.e8-1 p.G195_splice MORC1_ENST00000483760.1_Splice_Site_p.G195_splice NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 195 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CAGCAAAGTACCTGGTAGAAA 0.348000 41 51 0 0 0.827153 0 0 SYTL2 54843 broad.mit.edu 37 11 85436774 85436774 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:85436774C>T ENST00000359152.5 - 1 2297 c.2298G>A c.(2296-2298)ttG>ttA p.L766L SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Silent_p.L242L|SYTL2_ENST00000525423.1_Silent_p.L242L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 278 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GACTAGCAGTCAAAGAGTTCC 0.438000 57 189 0 0 0.870114 0 0 C21orf33 8209 broad.mit.edu 37 21 45554008 45554008 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:45554008G>A ENST00000291577.6 + 2 259 c.166G>A c.(166-168)Gat>Aat p.D56N C21orf33_ENST00000348499.5_Missense_Mutation_p.D56N|C21orf33_ENST00000427803.2_Missense_Mutation_p.D56N|C21orf33_ENST00000493883.1_Intron NM_004649.6 NP_004640.3 P30042 ES1_HUMAN chromosome 21 open reading frame 33 56 mitochondrion NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191) CGGAGTCTACGATGGGACCGA 0.672000 7 29 0 0 0.278610 0 0 RRP1B 23076 broad.mit.edu 37 21 45107740 45107740 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:45107740G>A ENST00000340648.4 + 13 1602 c.1485G>A c.(1483-1485)gaG>gaA p.E495E NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 495 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) TGCCCCCAGAGGACATGTCTC 0.577000 24 98 0 0 0.639603 0 0 PLXNA3 55558 broad.mit.edu 37 X 153693806 153693806 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:153693806G>A ENST00000369682.3 + 12 2459 c.2284G>A c.(2284-2286)Gac>Aac p.D762N NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 762 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACCGAGCTGGACTTCTCCGT 0.552000 56 40 0 0 0.870114 0 0 CELSR2 1952 broad.mit.edu 37 1 109806290 109806290 + Missense_Mutation SNP C C G rs139381040 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:109806290C>G ENST00000271332.3 + 9 4953 c.4892C>G c.(4891-4893)tCg>tGg p.S1631W NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1631 Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CATGGCCTCTCGCTGCCCATC 0.652000 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 124 0 0 0.870114 0 0 ECHDC2 55268 broad.mit.edu 37 1 53373583 53373583 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:53373583C>G ENST00000536120.1 - 7 1000 c.183G>C c.(181-183)gtG>gtC p.V61V ECHDC2_ENST00000358358.5_Silent_p.V107V|ECHDC2_ENST00000371522.4_Silent_p.V107V|ECHDC2_ENST00000541281.1_Silent_p.V61V Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 107 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 CAAACACCCCCACCTCTGCTT 0.592000 13 103 0 0 0.479597 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129959708 129959708 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:129959708C>G ENST00000368149.2 - 3 471 c.383G>C c.(382-384)gGa>gCa p.G128A NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 128 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) CTGTGGATCTCCAGCAGACTC 0.473000 48 102 0 0 0.870114 0 0 COL12A1 1303 broad.mit.edu 37 6 75833986 75833986 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:75833986G>C ENST00000322507.8 - 41 7018 c.6709C>G c.(6709-6711)Cta>Gta p.L2237V COL12A1_ENST00000416123.2_Missense_Mutation_p.L2237V|COL12A1_ENST00000345356.6_Missense_Mutation_p.L1073V|COL12A1_ENST00000483888.2_Missense_Mutation_p.L2237V NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2237 Fibronectin type-III 18. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GCAGGGCTTAGTTTTAGCCTG 0.378000 4 116 0 0 0.150653 0 0 NPAP1 23742 broad.mit.edu 37 15 24924415 24924415 + Missense_Mutation SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:24924415A>G ENST00000329468.2 + 1 3875 c.3401A>G c.(3400-3402)tAc>tGc p.Y1134C NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGAAAATTCTACACTTCAAGC 0.483000 46 138 0 0 0.859065 0 0 DHX29 54505 broad.mit.edu 37 5 54569133 54569133 + Silent SNP T T A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:54569133T>A ENST00000251636.5 - 17 2911 c.2763A>T c.(2761-2763)ccA>ccT p.P921P RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 921 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TCCTGACTCCTGGAGGGGGAA 0.363000 27 70 0 0 0.740014 0 0 MGEA5 10724 broad.mit.edu 37 10 103558920 103558920 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:103558920C>G ENST00000361464.3 - 9 1883 c.1488G>C c.(1486-1488)ttG>ttC p.L496F MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.L443F|MGEA5_ENST00000439817.1_Missense_Mutation_p.L443F|MGEA5_ENST00000370094.3_Missense_Mutation_p.L496F NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 496 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) CCATTGGTTTCAATTCCTCTG 0.413000 5 477 0 0 0.184627 0 0 LRRN4 164312 broad.mit.edu 37 20 6021786 6021786 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:6021786G>A ENST00000378858.4 - 5 2329 c.2105C>T c.(2104-2106)tCc>tTc p.S702F NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 702 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 GAGACATGCGGACAGCACCAC 0.687000 9 16 0 0 0.335167 0 0 CXXC1 30827 broad.mit.edu 37 18 47810269 47810269 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:47810269C>T ENST00000285106.6 - 10 2122 c.1408G>A c.(1408-1410)Gag>Aag p.E470K CXXC1_ENST00000589940.1_Missense_Mutation_p.E470K|CXXC1_ENST00000412036.2_Missense_Mutation_p.E474K NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 470 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 CTCACCTCCTCATCCTCGCGC 0.582000 86 159 0 0 0.870114 0 0 B4GALT2 8704 broad.mit.edu 37 1 44456112 44456112 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:44456112C>T ENST00000356836.6 + 7 1901 c.1111C>T c.(1111-1113)Cgg>Tgg p.R371W B4GALT2_ENST00000434555.2_Missense_Mutation_p.R305W|B4GALT2_ENST00000372324.1_Missense_Mutation_p.R371W|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R400W NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 371 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) GTGGCCCCCTCGGGGCTGACA 0.622000 14 274 0 0 0.457914 0 0 SLC5A12 159963 broad.mit.edu 37 11 26700349 26700349 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:26700349C>T ENST00000396005.3 - 13 1798 c.1489G>A c.(1489-1491)Gat>Aat p.D497N NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 497 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TACCAGGTATCAGCTATTCCA 0.468000 25 81 0 0 0.681144 0 0 HCN1 348980 broad.mit.edu 37 5 45262789 45262789 + Missense_Mutation SNP A A T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:45262789A>T ENST00000303230.4 - 8 1964 c.1907T>A c.(1906-1908)aTc>aAc p.I636N NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 636 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GATGGGAGCGATTGCCTGCAC 0.478000 41 139 0 0 0.870114 0 0 TIMD4 91937 broad.mit.edu 37 5 156381666 156381666 + Missense_Mutation SNP A A T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:156381666A>T ENST00000274532.2 - 2 216 c.160T>A c.(160-162)Tgg>Agg p.W54R TIMD4_ENST00000407087.3_Missense_Mutation_p.W54R NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 54 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTTTCCCCCAGCACATGCTG 0.527000 35 85 0 0 0.796494 0 0 IGSF5 150084 broad.mit.edu 37 21 41165472 41165472 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:41165472C>G ENST00000380588.4 + 8 1163 c.1060C>G c.(1060-1062)Ctc>Gtc p.L354V NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 354 integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) CACCGCTTCTCTCCCTCCCAA 0.423000 31 99 0 0 0.740014 0 0 ADAM12 8038 broad.mit.edu 37 10 127806646 127806646 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:127806646C>G ENST00000368679.4 - 6 882 c.573G>C c.(571-573)aaG>aaC p.K191N ADAM12_ENST00000368676.4_Missense_Mutation_p.K191N NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 191 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.K191N(3) 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) GAAACACATTCTTTGCAGCGA 0.493000 33 311 0 0 0.796494 0 0 SLC6A18 348932 broad.mit.edu 37 5 1239639 1239639 + Silent SNP C C T rs137936927 byFrequency TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:1239639C>T ENST00000324642.3 + 6 930 c.807C>T c.(805-807)ttC>ttT p.F269F SLC6A18_ENST00000296821.4_Silent_p.F264F NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 269 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCCTGGCCTTCGGAGGACACA 0.592000 6 259 0 0 0.248553 0 0 LRP2 4036 broad.mit.edu 37 2 170139405 170139405 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:170139405C>G ENST00000263816.3 - 10 1434 c.1149G>C c.(1147-1149)caG>caC p.Q383H LRP2_ENST00000443831.1_Missense_Mutation_p.Q383H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 383 EGF-like 2. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTTTGCAATACTGTCCACGCT 0.448000 52 197 0 0 0.870114 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570614 20570614 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:20570614C>G ENST00000329697.6 - 3 501 c.333G>C c.(331-333)gtG>gtC p.V111V ACSM2B_ENST00000565232.1_Silent_p.V111V|ACSM2B_ENST00000565322.1_Silent_p.V32V|ACSM2B_ENST00000414188.2_Silent_p.V111V|ACSM2B_ENST00000567001.1_Silent_p.V111V NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 111 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GGGGCAGCATCACTGCCACAC 0.552000 15 36 0 0 0.557998 0 0 ONECUT1 3175 broad.mit.edu 37 15 53081966 53081966 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:53081966G>C ENST00000305901.5 - 1 243 c.116C>G c.(115-117)gCg>gGg p.A39G ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 39 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) GCCGCGGTGCGCCACGGAGCT 0.756000 4 4 0 0 0.184627 0 0 PPL 5493 broad.mit.edu 37 16 4944472 4944472 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:4944472C>G ENST00000345988.2 - 12 1479 c.1390G>C c.(1390-1392)Gac>Cac p.D464H PPL_ENST00000590782.2_Missense_Mutation_p.D462H NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 464 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TTGTACCTGTCAGCCAGAGCC 0.627000 25 57 0 0 0.693898 0 0 SPICE1 152185 broad.mit.edu 37 3 113172409 113172409 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:113172409G>C ENST00000295872.4 - 14 2305 c.2046C>G c.(2044-2046)atC>atG p.I682M NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 682 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TATGTGCCTTGATAGCTGAAT 0.418000 114 155 0 0 0.870114 0 0 EDN2 1907 broad.mit.edu 37 1 41946860 41946860 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:41946860C>G ENST00000372587.4 - 4 418 c.349G>C c.(349-351)Gaa>Caa p.E117Q EDN2_ENST00000490783.1_5'UTR NM_001956.3 NP_001947.1 P20800 EDN2_HUMAN endothelin 2 117 artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space endothelin B receptor binding|hormone activity endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCCCGGCTTCAGTCCTACGT 0.632000 35 95 0 0 0.796494 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140732048 140732048 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:140732048G>A ENST00000523390.1 + 1 2221 c.2221G>A c.(2221-2223)Gag>Aag p.E741K PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACCACAGCGAGGGGACTTT 0.562000 27 129 0 0 0.667858 0 0 RC3H2 54542 broad.mit.edu 37 9 125642045 125642045 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:125642045C>G ENST00000373670.1 - 7 1801 c.1201G>C c.(1201-1203)Gag>Cag p.E401Q RC3H2_ENST00000373665.2_Missense_Mutation_p.E401Q|RC3H2_ENST00000357244.2_Missense_Mutation_p.E401Q|RC3H2_ENST00000423239.2_Missense_Mutation_p.E401Q|RC3H2_ENST00000335387.5_Missense_Mutation_p.E401Q Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 401 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TGAGGGGTCTCATGGCCTTTT 0.393000 20 62 0 0 0.575678 0 0 PEX5L 51555 broad.mit.edu 37 3 179597738 179597738 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:179597738C>G ENST00000467460.1 - 5 814 c.484G>C c.(484-486)Gag>Cag p.E162Q PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.E138Q|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000263962.8_Missense_Mutation_p.E160Q|PEX5L_ENST00000485199.1_Missense_Mutation_p.E127Q|PEX5L_ENST00000476138.1_Missense_Mutation_p.E119Q|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000472994.1_Missense_Mutation_p.E103Q NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 162 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GATGAAGTCTCCGGGACTCTG 0.512000 30 177 0 0 0.750413 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755614 140755614 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:140755614C>T ENST00000517434.1 + 1 1964 c.1964C>T c.(1963-1965)tCc>tTc p.S655F PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCCTCTCTCCGCCACTGTC 0.706000 8 40 0 0 0.387290 0 0 TBXAS1 6916 broad.mit.edu 37 7 139572057 139572057 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:139572057G>C ENST00000263552.6 + 6 654 c.116G>C c.(115-117)aGa>aCa p.R39T TBXAS1_ENST00000411653.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000425687.1_5'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000336425.5_Missense_Mutation_p.R38T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000455353.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000539806.1_Missense_Mutation_p.R39T NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 38 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GCATTCTCAAGACTGGAGAAG 0.443000 62 162 0 0 0.870114 0 0 SF3A3 10946 broad.mit.edu 37 1 38449853 38449853 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:38449853C>T ENST00000373019.4 - 6 1411 c.456G>A c.(454-456)ctG>ctA p.L152L SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Silent_p.L99L NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 152 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CAGATGCCTTCAGGTTAATGT 0.468000 9 42 0 0 0.335167 0 0 CD300LG 146894 broad.mit.edu 37 17 41926060 41926060 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:41926060C>A ENST00000317310.4 + 2 219 c.178C>A c.(178-180)Cgc>Agc p.R60S CD300LG_ENST00000293396.8_Missense_Mutation_p.R60S|CD300LG_ENST00000588884.1_Missense_Mutation_p.R60S|CD300LG_ENST00000586233.1_Missense_Mutation_p.R60S|CD300LG_ENST00000539718.1_Missense_Mutation_p.R60S|CD300LG_ENST00000377203.4_Missense_Mutation_p.R60S NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 60 Ig-like V-type. apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) CCTCTTCTCTCGCTGCTCTGG 0.592000 4 126 0.150653 0.152135 0.150653 1 0 FLG 2312 broad.mit.edu 37 1 152286973 152286973 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:152286973C>G ENST00000368799.1 - 3 424 c.389G>C c.(388-390)aGa>aCa p.R130T FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 130 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTGTTTCTTCTTTCCAGACT 0.373000 Ichthyosis 84 198 0 0 0.870114 0 0 RANBP10 57610 broad.mit.edu 37 16 67760383 67760383 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:67760383C>T ENST00000317506.3 - 14 1926 c.1811G>A c.(1810-1812)cGa>cAa p.R604Q RANBP10_ENST00000536251.1_Missense_Mutation_p.R375Q|RANBP10_ENST00000448631.2_Missense_Mutation_p.R578Q|RANBP10_ENST00000411657.2_Missense_Mutation_p.R517Q|RANBP10_ENST00000602677.1_Missense_Mutation_p.R634Q NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 604 endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) CAGGCCTGCTCGGGCCATGAG 0.622000 3 22 0 0 0.115264 0 0 GGNBP2 79893 broad.mit.edu 37 17 34942500 34942500 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:34942500C>T ENST00000304718.4 + 12 1829 c.1513C>T c.(1513-1515)Cac>Tac p.H505Y NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 505 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TTGTGTTCATCACTGTGAAGA 0.353000 8 218 0 0 0.307466 0 0 HYDIN 54768 broad.mit.edu 37 16 71054112 71054112 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:71054112C>T ENST00000393567.2 - 22 3445 c.3295G>A c.(3295-3297)Gag>Aag p.E1099K HYDIN_ENST00000448089.2_Missense_Mutation_p.E1051K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1099 p.E1051Q(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTATCAGTCTCACATATAAAG 0.507000 10 24 0 0 0.411799 0 0 OLA1 29789 broad.mit.edu 37 2 175006586 175006586 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:175006586C>G ENST00000284719.3 - 5 762 c.516G>C c.(514-516)gtG>gtC p.V172V OLA1_ENST00000428402.2_Silent_p.V172V|OLA1_ENST00000409546.1_Silent_p.V192V|OLA1_ENST00000344357.5_Silent_p.V14V NM_013341.3 NP_037473.3 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 172 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 CTCCTCCTCTCACAGCCACCT 0.294000 29 135 0 0 0.750413 0 0 POLR2D 5433 broad.mit.edu 37 2 128610608 128610608 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:128610608C>G ENST00000272645.4 - 2 201 c.145G>C c.(145-147)Gag>Cag p.E49Q POLR2D_ENST00000409955.1_Missense_Mutation_p.E49Q|POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409698.1_Missense_Mutation_p.E11Q NM_004805.3 NP_004796.1 O15514 RPB4_HUMAN polymerase (RNA) II (DNA directed) polypeptide D 49 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|nucleotide binding large_intestine(1)|lung(4)|urinary_tract(1) 6 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0675) TCTGCACTCTCATTCTGCTGC 0.418000 51 217 0 0 0.870114 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149590 45149590 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:45149590C>G ENST00000458659.2 - 1 1111 c.621G>C c.(619-621)caG>caC p.Q207H TSC22D1_ENST00000501704.2_Missense_Mutation_p.Q207H NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 207 His-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TCACAACATTCTGTTGTGGAA 0.527000 10 33 0 0 0.411799 0 0 SYNE2 23224 broad.mit.edu 37 14 64669652 64669652 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:64669652G>C ENST00000357395.3 + 101 18471 c.7327G>C c.(7327-7329)Gag>Cag p.E2443Q SYNE2_ENST00000394768.2_Missense_Mutation_p.E2443Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6058Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2692Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6058Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6020Q Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6058 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CGATGATCAAGAGATCCAGAA 0.512000 53 43 0 0 0.870114 0 0 XPOT 11260 broad.mit.edu 37 12 64818849 64818849 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:64818849G>T ENST00000332707.5 + 13 1868 c.1339G>T c.(1339-1341)Gaa>Taa p.E447* NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 447 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TATGGAAGTTGAAGTAGCAAT 0.383000 61 143 2.73361e-28 2.93875e-28 0.870114 1 0 ZNF232 7775 broad.mit.edu 37 17 5012997 5012997 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:5012997C>G ENST00000250076.3 - 3 844 c.190G>C c.(190-192)Gag>Cag p.E64Q ZNF232_ENST00000416429.2_Missense_Mutation_p.E37Q|ZNF232_ENST00000575898.1_Missense_Mutation_p.E64Q|ZNF232_ENST00000575538.1_Intron NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 37 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 AGCCTGGTCTCATACTCACAA 0.537000 29 91 0 0 0.729181 0 0 PHAX 51808 broad.mit.edu 37 5 125939416 125939416 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:125939416G>C ENST00000297540.4 + 2 946 c.251G>C c.(250-252)cGa>cCa p.R84P PHAX_ENST00000514725.1_3'UTR NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export 84 Necessary for interaction with CBP80 (By similarity). ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 AAACGCAAACGACAGAAATGT 0.418000 18 116 0 0 0.539581 0 0 ALAS1 211 broad.mit.edu 37 3 52240616 52240616 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:52240616C>T ENST00000394965.2 + 8 1374 c.1014C>T c.(1012-1014)aaC>aaT p.N338N ALAS1_ENST00000484952.1_Silent_p.N338N|ALAS1_ENST00000469224.1_Silent_p.N338N|ALAS1_ENST00000310271.2_Silent_p.N338N NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 338 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) ATTCTGGGAACCATGCCTCCA 0.438000 83 111 0 0 0.870114 0 0 C7orf63 79846 broad.mit.edu 37 7 89906554 89906554 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:89906554G>C ENST00000389297.4 + 11 1312 c.1061G>C c.(1060-1062)gGa>gCa p.G354A C7orf63_ENST00000497910.1_Missense_Mutation_p.G336A|C7orf63_ENST00000316089.8_Missense_Mutation_p.G354A NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 354 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TTGGTAAAAGGACTTAAGCTT 0.274000 9 70 0 0 0.335167 0 0 MCM3 4172 broad.mit.edu 37 6 52133882 52133882 + Splice_Site SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:52133882A>G ENST00000596288.1 - 13 2131 c.e13+1 MCM3_ENST00000419835.2_Splice_Site|MCM3_ENST00000229854.7_Splice_Site NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) CTGAATCCTCACCTTCTTAAA 0.532000 62 140 0 0 0.870114 0 0 ZNF473 25888 broad.mit.edu 37 19 50549104 50549104 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:50549104C>T ENST00000595661.1 + 6 1899 c.1404C>T c.(1402-1404)ttC>ttT p.F468F CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.F468F|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Silent_p.F468F|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.F456F Q8WTR7 ZN473_HUMAN zinc finger protein 473 468 Interaction with SLBP/pre-mRNA complex. 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) TCAGGAGTTTCAGCCGGCCCT 0.522000 11 38 0 0 0.361761 0 0 EMILIN1 11117 broad.mit.edu 37 2 27305913 27305913 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:27305913C>G ENST00000380320.4 + 4 1973 c.1474C>G c.(1474-1476)Caa>Gaa p.Q492E NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 492 cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCAGGACTCTCAAGTCAGCGA 0.692000 5 16 0 0 0.217242 0 0 CXorf21 80231 broad.mit.edu 37 X 30578276 30578276 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:30578276G>C ENST00000378962.3 - 3 519 c.197C>G c.(196-198)tCt>tGt p.S66C NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 66 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 ATGCACTGAAGAGATAAACTT 0.458000 110 98 0 0 0.870114 0 0 MAP3K13 9175 broad.mit.edu 37 3 185198141 185198141 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:185198141G>A ENST00000265026.3 + 13 2957 c.2623G>A c.(2623-2625)Gat>Aat p.D875N MAP3K13_ENST00000443863.1_Missense_Mutation_p.D731N|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D731N|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D875N|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D668N|TMEM41A_ENST00000475480.1_5'UTR NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 875 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TGAGTTAGCTGATAAACTTGA 0.483000 82 211 0 0 0.870114 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26238784 26238784 + RNA SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:26238784C>G ENST00000519902.1 - 0 1164 AGCAAAGGCTCTTCTGAAGTT 0.393000 13 28 0 0 0.435327 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261954 1261954 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:1261954G>C ENST00000348261.5 + 25 4823 c.4575G>C c.(4573-4575)caG>caC p.Q1525H CACNA1H_ENST00000565831.1_Missense_Mutation_p.Q1525H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.Q1525H NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1525 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AGCCTGTGCAGAACCACAACC 0.652000 41 111 0 0 0.834066 0 0 CYFIP1 23191 broad.mit.edu 37 15 22993080 22993080 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:22993080G>A ENST00000313077.7 + 26 3092 c.2967G>A c.(2965-2967)ctG>ctA p.L989L CYFIP1_ENST00000435939.2_Silent_p.L558L|CYFIP1_ENST00000560848.1_Silent_p.L989L NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 989 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) ACGCAGAGCTGAAGACGGTGT 0.647000 50 126 0 0 0.870114 0 0 RABL6 55684 broad.mit.edu 37 9 139720263 139720263 + Translation_Start_Site SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:139720263G>A ENST00000371675.3 + 0 755 RABL6_ENST00000432842.2_Missense_Mutation_p.D62N|RABL6_ENST00000311502.7_Missense_Mutation_p.D100N|RABL6_ENST00000357466.2_Missense_Mutation_p.D100N|RABL6_ENST00000371671.4_Missense_Mutation_p.D100N|RABL6_ENST00000371663.4_Missense_Mutation_p.D100N RAB, member RAS oncogene family-like 6 TGAAGTCTGGGATGTAGTAGA 0.532000 6 338 0 0 0.278610 0 0 GSC 145258 broad.mit.edu 37 14 95235376 95235376 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:95235376G>A ENST00000238558.3 - 2 743 c.534C>T c.(532-534)ctC>ctT p.L178L NM_173849.2 NP_776248.1 P56915 GSC_HUMAN goosecoid homeobox 178 gastrulation|middle ear morphogenesis sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 all_cancers(154;0.0896)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239) TCTCCTGGAAGAGGTTCTCGA 0.667000 7 8 0 0 0.248553 0 0 TIAM1 7074 broad.mit.edu 37 21 32503217 32503217 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:32503217C>G ENST00000286827.3 - 25 4404 c.3933G>C c.(3931-3933)aaG>aaC p.K1311N TIAM1_ENST00000541036.1_Missense_Mutation_p.K1251N NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1311 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CAAGTTTCTTCTTCTGTTTGG 0.348000 18 66 0 0 0.557998 0 0 TTN 7273 broad.mit.edu 37 2 179650577 179650577 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:179650577G>A ENST00000589042.1 - 14 2592 c.2368C>T c.(2368-2370)Cag>Tag p.Q790* TTN_ENST00000460472.2_Nonsense_Mutation_p.Q744*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Q790*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q790*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q744*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q790*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q744* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 790 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGACTCACCTGTGATGATATG 0.438000 33 68 0 0 0.750413 0 0 MNX1 3110 broad.mit.edu 37 7 156802973 156802973 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:156802973C>G ENST00000252971.6 - 1 372 c.72G>C c.(70-72)caG>caC p.Q24H NM_005515.3 NP_005506.3 P50219 MNX1_HUMAN motor neuron and pancreas homeobox 1 24 DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647). humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCGGCGCGCTCTGCGCAGAGG 0.726000 3 13 0 0 0.184627 0 0 KCNJ13 3769 broad.mit.edu 37 2 233635840 233635840 + Missense_Mutation SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:233635840A>G ENST00000233826.3 - 2 372 c.233T>C c.(232-234)cTg>cCg p.L78P GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L78P|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000409779.1_Intron NM_002242.4 NP_002233.2 O60928 IRK13_HUMAN potassium inwardly-rectifying channel, subfamily J, member 13 78 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) CATCTCAGCCAGAACATACCA 0.468000 20 73 0 0 0.557998 0 0 KPNB1 3837 broad.mit.edu 37 17 45757436 45757436 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:45757436G>C ENST00000290158.4 + 20 2811 c.2404G>C c.(2404-2406)Gac>Cac p.D802H KPNB1_ENST00000535458.2_Missense_Mutation_p.D657H|KPNB1_ENST00000537679.1_Missense_Mutation_p.D586H|KPNB1_ENST00000540627.1_Missense_Mutation_p.D657H NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 802 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 GTCTTTCATTGACCACATTGC 0.453000 68 183 0 0 0.870114 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32975985 32975985 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:32975985C>G ENST00000229829.5 - 2 211 c.136G>C c.(136-138)Ggc>Cgc p.G46R HLA-DOA_ENST00000450833.2_Missense_Mutation_p.G16R NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 46 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 GTGAACTGGCCCGAGGCGCCG 0.547000 38 30 0 0 0.812448 0 0 CPNE4 131034 broad.mit.edu 37 3 131404721 131404721 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:131404721C>T ENST00000512055.1 - 10 2715 c.589G>A c.(589-591)Gag>Aag p.E197K CPNE4_ENST00000512332.1_Missense_Mutation_p.E215K|CPNE4_ENST00000429747.1_Missense_Mutation_p.E197K|CPNE4_ENST00000502818.1_Missense_Mutation_p.E215K|CPNE4_ENST00000511604.1_Missense_Mutation_p.E197K Q96A23 CPNE4_HUMAN copine IV 197 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 ACTCTTACCTCAGTTCGGTGC 0.388000 15 85 0 0 0.539581 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147555 26147555 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:26147555G>C ENST00000331351.5 + 2 1749 c.1357G>C c.(1357-1359)Gag>Cag p.E453Q NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 453 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) GGAACAGGAAGAGGGTGATAA 0.463000 7 30 0 0 0.335167 0 0 TTF1 7270 broad.mit.edu 37 9 135277284 135277284 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:135277284C>G ENST00000334270.2 - 2 964 c.925G>C c.(925-927)Gaa>Caa p.E309Q NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 309 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) GGCCGGGATTCCTGCATATCA 0.448000 5 319 0 0 0.184627 0 0 C11orf49 79096 broad.mit.edu 37 11 47176813 47176813 + Splice_Site SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:47176813G>A ENST00000395460.2 + 5 489 c.e5+1 C11orf49_ENST00000543718.1_Splice_Site|C11orf49_ENST00000536126.1_Splice_Site|C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000378618.2_Splice_Site|C11orf49_ENST00000527268.1_Splice_Site|C11orf49_ENST00000278460.7_Splice_Site NM_001003676.1 NP_001003676.1 Q9H6J7 CK049_HUMAN chromosome 11 open reading frame 49 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1) 11 TACTACTCAGGTGAGTGTTCC 0.542000 64 217 0 0 0.870114 0 0 TRIM51 84767 broad.mit.edu 37 11 55659078 55659078 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:55659078C>T ENST00000449290.2 + 7 1421 c.1329C>T c.(1327-1329)ctC>ctT p.L443L TRIM51_ENST00000244891.3_Silent_p.L300L NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 443 B30.2/SPRY. intracellular zinc ion binding CACCTCCTCTCAGGCCTATCT 0.453000 51 266 0 0 0.870114 0 0 EEF2 1938 broad.mit.edu 37 19 3982347 3982347 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:3982347C>T ENST00000309311.6 - 5 776 c.688G>A c.(688-690)Gag>Aag p.E230K NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 230 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) ACATACATCTCGGCAAACTGC 0.597000 34 87 0 0 0.788014 0 0 CEP135 9662 broad.mit.edu 37 4 56847543 56847543 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:56847543G>C ENST00000257287.4 + 13 1901 c.1777G>C c.(1777-1779)Gag>Cag p.E593Q NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 593 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) AGAAAAATTAGAGGTAAGAAG 0.323000 50 164 0 0 0.870114 0 0 SMC4 10051 broad.mit.edu 37 3 160120484 160120484 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:160120484G>A ENST00000357388.3 + 4 790 c.339G>A c.(337-339)ggG>ggA p.G113G SMC4_ENST00000360111.2_Silent_p.G113G|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Silent_p.G113G|SMC4_ENST00000462787.1_Silent_p.G113G|SMC4_ENST00000469762.1_Silent_p.G88G NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 113 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTATTATCGGGCCAAATGGCA 0.328000 8 416 0 0 0.361761 0 0 FAM13B 51306 broad.mit.edu 37 5 137275949 137275949 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:137275949G>C ENST00000033079.3 - 23 3164 c.2713C>G c.(2713-2715)Ctt>Gtt p.L905V PKD2L2_ENST00000508638.1_3'UTR|FAM13B_ENST00000425075.2_Missense_Mutation_p.L781V|FAM13B_ENST00000420893.2_Missense_Mutation_p.L877V|PKD2L2_ENST00000290431.5_3'UTR|PKD2L2_ENST00000508883.1_Intron|PKD2L2_ENST00000502810.1_3'UTR NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 905 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 TTGCTTATAAGAACTTCAAGA 0.373000 28 67 0 0 0.681144 0 0 C6orf118 168090 broad.mit.edu 37 6 165693562 165693562 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:165693562C>G ENST00000230301.8 - 9 1414 c.1394G>C c.(1393-1395)aGa>aCa p.R465T C6orf118_ENST00000491176.1_5'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 465 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TCTGTTTCCTCTGATTTTACA 0.323000 27 63 0 0 0.740014 0 0 DZIP3 9666 broad.mit.edu 37 3 108393015 108393015 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:108393015C>G ENST00000361582.3 + 24 2910 c.2680C>G c.(2680-2682)Cac>Gac p.H894D DZIP3_ENST00000463306.1_Missense_Mutation_p.H894D NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 894 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 CAGGGTGACTCACATGGCAGC 0.408000 38 167 0 0 0.812448 0 0 FER1L6 654463 broad.mit.edu 37 8 125103812 125103812 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:125103812G>A ENST00000522917.1 + 34 4746 c.4540G>A c.(4540-4542)Gaa>Aaa p.E1514K FER1L6_ENST00000399018.1_Missense_Mutation_p.E1514K|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1514 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TATCTTCACTGAAGAGGACAC 0.408000 34 157 0 0 0.788014 0 0 GIGYF1 64599 broad.mit.edu 37 7 100279772 100279772 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:100279772C>T ENST00000275732.5 - 22 4057 c.2848G>A c.(2848-2850)Gaa>Aaa p.E950K NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 950 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCTTTGGCTTCCAGCGTGTCC 0.597000 24 68 0 0 0.624587 0 0 SZT2 23334 broad.mit.edu 37 1 43907221 43907221 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:43907221C>T ENST00000562955.1 + 53 7387 c.7387C>T c.(7387-7389)Cct>Tct p.P2463S SZT2_ENST00000372442.1_Missense_Mutation_p.P1621S NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2520 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GACCCTTCATCCTGTGTTTGC 0.552000 96 381 0 0 0.870114 0 0 LCA5 167691 broad.mit.edu 37 6 80196747 80196747 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:80196747C>T ENST00000392959.1 - 9 2679 c.2068G>A c.(2068-2070)Gaa>Aaa p.E690K LCA5_ENST00000369846.4_Missense_Mutation_p.E690K NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 690 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TCTTCAATTTCATCTTCTACA 0.303000 53 59 0 0 0.870114 0 0 C17orf74 201243 broad.mit.edu 37 17 7330205 7330205 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:7330205C>A ENST00000333870.3 + 3 969 c.895C>A c.(895-897)Cct>Act p.P299T RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 299 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) GGGGCACAGCCCTTACCCCTC 0.687000 13 62 1.52009e-12 1.59383e-12 0.479597 1 0 ADCYAP1 116 broad.mit.edu 37 18 909481 909481 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:909481G>C ENST00000579794.1 + 4 654 c.376G>C c.(376-378)Gag>Cag p.E126Q ADCYAP1_ENST00000450565.3_Missense_Mutation_p.E126Q NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 126 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding p.E126K(1) endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 GGACGACGCGGAGCCGCTCTC 0.667000 21 54 0 0 0.639603 0 0 PSMD2 5708 broad.mit.edu 37 3 184026289 184026289 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:184026289G>A ENST00000310118.4 + 20 3036 c.2478G>A c.(2476-2478)caG>caA p.Q826Q EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.Q696Q|PSMD2_ENST00000435761.1_Silent_p.Q667Q NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 826 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) CTGCCATGCAGCCCCGAATGC 0.537000 OREG0015948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 157 264 0 0 0.870114 0 0 MED27 9442 broad.mit.edu 37 9 134952852 134952852 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:134952852G>C ENST00000292035.5 - 2 388 c.325C>G c.(325-327)Caa>Gaa p.Q109E RP11-32B11.2_ENST00000444872.2_RNA|MED27_ENST00000372184.3_Missense_Mutation_p.Q109E|MED27_ENST00000357028.2_Missense_Mutation_p.Q71E|MED27_ENST00000474263.1_5'UTR NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 109 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) TTATATGCTTGAAGGAGTTGA 0.413000 10 286 0 0 0.387290 0 0 SUV420H2 84787 broad.mit.edu 37 19 55853367 55853367 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:55853367C>T ENST00000255613.3 + 2 311 c.63C>T c.(61-63)ctC>ctT p.L21L AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR NM_032701.3 NP_116090.2 Q86Y97 SV422_HUMAN suppressor of variegation 4-20 homolog 2 (Drosophila) 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 4 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CCACCAGCCTCGTCCTGGACC 0.662000 43 108 0 0 0.870114 0 0 DHRS12 79758 broad.mit.edu 37 13 52348132 52348132 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:52348132C>T ENST00000218981.1 - 6 513 c.402G>A c.(400-402)ctG>ctA p.L134L DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Silent_p.L134L|DHRS12_ENST00000444610.2_Silent_p.L183L NM_024705.2 NP_078981.1 A0PJE2 DHR12_HUMAN dehydrogenase/reductase (SDR family) member 12 183 binding|oxidoreductase activity cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 7 Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.81e-08) CATTGGTGTTCAGTTTCTGAA 0.443000 33 100 0 0 0.779181 0 0 HEATR2 54919 broad.mit.edu 37 7 794332 794332 + Silent SNP G G A rs151119269 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:794332G>A ENST00000297440.6 + 5 1151 c.1131G>A c.(1129-1131)gtG>gtA p.V377V HEATR2_ENST00000313147.5_Silent_p.V377V NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 377 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) GGACCCGAGTGAAGTCGGCAC 0.672000 68 174 0 0 0.870114 0 0 DNAL1 83544 broad.mit.edu 37 14 74125577 74125577 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:74125577G>T ENST00000553645.1 + 3 111 c.70G>T c.(70-72)Gaa>Taa p.E24* DNAL1_ENST00000554871.1_5'UTR|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000540526.1_5'UTR NM_031427.3 NP_113615.2 Q4LDG9 DNAL1_HUMAN dynein, axonemal, light chain 1 24 kidney(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095) GAGGCCATCTGAAGCCAAAGA 0.403000 269 171 3.09578e-119 3.37224e-119 0.870114 1 0 OR11H4 390442 broad.mit.edu 37 14 20711066 20711066 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:20711066C>T ENST00000315409.2 + 1 169 c.116C>T c.(115-117)tCa>tTa p.S39L NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) TTCCTCTTCTCATTGTTTTTG 0.448000 29 177 0 0 0.693898 0 0 GC 2638 broad.mit.edu 37 4 72634073 72634073 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:72634073G>C ENST00000273951.8 - 3 549 c.206C>G c.(205-207)tCc>tGc p.S69C GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.S88C|GC_ENST00000513476.1_Missense_Mutation_p.S69C NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 69 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TTCGGTCAAGGAGACAACTTC 0.522000 15 41 0 0 0.457914 0 0 PCLO 27445 broad.mit.edu 37 7 82474791 82474791 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:82474791C>T ENST00000423517.2 - 13 14179 c.13842G>A c.(13840-13842)gcG>gcA p.A4614A PCLO_ENST00000333891.8_Silent_p.A4614A|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4502 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTGGGGATTTCGCCTTATCCA 0.418000 6 19 0 0 0.307466 0 0 ZNF99 7652 broad.mit.edu 37 19 22941540 22941540 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:22941540G>C ENST00000397104.3 - 5 897 c.898C>G c.(898-900)Cat>Gat p.H300D ZNF99_ENST00000596209.1_Missense_Mutation_p.H391D zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGTCCAGTATGAATTATCTCA 0.353000 4 149 0 0 0.150653 0 0 MACF1 23499 broad.mit.edu 37 1 39833972 39833972 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:39833972G>C ENST00000564288.1 + 50 13701 c.12924G>C c.(12922-12924)aaG>aaC p.K4308N MACF1_ENST00000372915.3_Missense_Mutation_p.K4313N|MACF1_ENST00000317713.7_Missense_Mutation_p.K2246N|MACF1_ENST00000539005.1_Missense_Mutation_p.K2246N|MACF1_ENST00000567887.1_Missense_Mutation_p.K4345N|MACF1_ENST00000361689.2_Missense_Mutation_p.K2246N|MACF1_ENST00000289893.4_Missense_Mutation_p.K2748N|MACF1_ENST00000545844.1_Missense_Mutation_p.K2246N|MACF1_ENST00000476350.1_3'UTR Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4313 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGCTACAGAAGACAGTTAAAG 0.423000 30 116 0 0 0.750413 0 0 KRI1 65095 broad.mit.edu 37 19 10675660 10675660 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:10675660C>T ENST00000312962.6 - 3 256 c.237G>A c.(235-237)ttG>ttA p.L79L KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.L75L NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 79 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCTTCTTCTTCAACAAGGAGA 0.488000 OREG0025239 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 139 0 0 0.870114 0 0 BBX 56987 broad.mit.edu 37 3 107520004 107520004 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:107520004G>C ENST00000415149.2 + 16 2851 c.2524G>C c.(2524-2526)Gac>Cac p.D842H BBX_ENST00000402543.1_Missense_Mutation_p.D822H|BBX_ENST00000406780.1_Missense_Mutation_p.D842H|BBX_ENST00000325805.8_Missense_Mutation_p.D872H|BBX_ENST00000416476.2_Missense_Mutation_p.M535I NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 872 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) AGACTGCAATGACAAATGCTC 0.507000 60 83 0 0 0.870114 0 0 MYOCD 93649 broad.mit.edu 37 17 12666707 12666707 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:12666707G>A ENST00000425538.1 + 14 2907 c.2707G>A c.(2707-2709)Gag>Aag p.E903K RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.E855K NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 855 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.E903K(1)|p.E855K(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CAATGCACATGAGATCTTGCC 0.498000 23 66 0 0 0.639603 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 7 25 0 0 0.248553 0 0 PREPL 9581 broad.mit.edu 37 2 44549940 44549940 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:44549940C>G ENST00000541738.1 - 12 2069 c.1683G>C c.(1681-1683)ctG>ctC p.L561L PREPL_ENST00000260648.6_Silent_p.L650L|PREPL_ENST00000378520.3_Silent_p.L584L|PREPL_ENST00000378511.3_Silent_p.L588L|PREPL_ENST00000410081.1_Silent_p.L650L|PREPL_ENST00000409936.1_Silent_p.L650L|PREPL_ENST00000409957.1_Silent_p.L561L|PREPL_ENST00000409411.1_Silent_p.L561L|PREPL_ENST00000409272.1_Silent_p.L650L NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 650 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CAATTCCTTTCAGAGGTACCC 0.423000 80 189 0 0 0.870114 0 0 DISC1 27185 broad.mit.edu 37 1 231830436 231830436 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:231830436G>T ENST00000439617.2 + 2 985 c.932G>T c.(931-933)gGc>gTc p.G311V DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.G311V|DISC1_ENST00000317586.4_Missense_Mutation_p.G311V|DISC1_ENST00000602281.1_Missense_Mutation_p.G311V|DISC1_ENST00000535983.1_Missense_Mutation_p.G311V|DISC1_ENST00000366633.3_Missense_Mutation_p.G311V|DISC1_ENST00000602873.1_Intron|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.G311V|DISC1_ENST00000539444.1_Missense_Mutation_p.G311V NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 311 Interaction with TRAF3IP1. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) TCACTGGCTGGCTGTGGTGGT 0.617000 16 87 6.49762e-13 6.82444e-13 0.539581 1 0 ZNF684 127396 broad.mit.edu 37 1 41012566 41012566 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:41012566G>A ENST00000372699.3 + 5 822 c.571G>A c.(571-573)Gac>Aac p.D191N ZNF684_ENST00000493756.1_3'UTR NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) TGAATGCAATGACTGTGGAAA 0.393000 17 118 0 0 0.500413 0 0 HAP1 9001 broad.mit.edu 37 17 39881320 39881320 + Missense_Mutation SNP C C T rs149550090 byFrequency TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:39881320C>T ENST00000393939.2 - 10 1427 c.1418G>A c.(1417-1419)cGg>cAg p.R473Q HAP1_ENST00000347901.4_Missense_Mutation_p.R498Q|HAP1_ENST00000341193.5_Missense_Mutation_p.R481Q|HAP1_ENST00000310778.5_Missense_Mutation_p.R550Q|JUP_ENST00000540235.1_Intron P54257 HAP1_HUMAN huntingtin-associated protein 1 526 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) ATCTTCCCCCCGCATGATATC 0.607000 147 409 0 0 0.870114 0 0 ADCK1 57143 broad.mit.edu 37 14 78374175 78374175 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:78374175G>A ENST00000238561.5 + 7 870 c.771G>A c.(769-771)acG>acA p.T257T ADCK1_ENST00000341211.5_Silent_p.T189T NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 264 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity p.T257T(1)|p.T189T(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) ACCTGTCCACGGAGCGGGTCC 0.567000 31 26 0 0 0.796494 0 0 FAT4 79633 broad.mit.edu 37 4 126329825 126329825 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:126329825C>T ENST00000394329.3 + 4 5809 c.5796C>T c.(5794-5796)ttC>ttT p.F1932F FAT4_ENST00000335110.5_Silent_p.F230F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1932 Cadherin 18. 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 GAGTTTATTTCAATATTCTAG 0.348000 50 149 0 0 0.870114 0 0 ALAS2 212 broad.mit.edu 37 X 55039985 55039985 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:55039985C>G ENST00000330807.5 - 10 1671 c.1534G>C c.(1534-1536)Ggt>Cgt p.G512R ALAS2_ENST00000396198.3_Missense_Mutation_p.G499R|ALAS2_ENST00000335854.4_Missense_Mutation_p.G475R|ALAS2_ENST00000498636.1_Intron NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 512 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) AGCTCTTCACCCCGGGGGACA 0.572000 17 44 0 0 0.539581 0 0 FCGBP 8857 broad.mit.edu 37 19 40430302 40430302 + Silent SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:40430302A>G ENST00000221347.6 - 3 1648 c.1641T>C c.(1639-1641)gtT>gtC p.V547V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 547 VWFD 1. 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) GGACGAAGCCAACTTCACCGC 0.647000 12 31 0 0 0.457914 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220824 118220824 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:118220824C>T ENST00000402510.2 - 11 4368 c.4369G>A c.(4369-4371)Gat>Aat p.D1457N NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1457 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TTATTACCATCACCACTCTCA 0.453000 31 32 0 0 0.717897 0 0 CMYA5 202333 broad.mit.edu 37 5 79034791 79034791 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:79034791C>T ENST00000446378.2 + 2 10234 c.10203C>T c.(10201-10203)atC>atT p.I3401I NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3401 perinuclear region of cytoplasm p.I3401I(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AACCTAAAATCCTGGTCCCAC 0.453000 30 101 0 0 0.729181 0 0 CCPG1 9236 broad.mit.edu 37 15 55653003 55653003 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:55653003G>A ENST00000310958.6 - 8 1266 c.968C>T c.(967-969)tCa>tTa p.S323L DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.S323L|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.S323L NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 323 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) TTCCTGTAATGAGGATAAGGC 0.343000 34 125 0 0 0.779181 0 0 ADH5 128 broad.mit.edu 37 4 100006310 100006310 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:100006310C>T ENST00000296412.8 - 2 120 c.70G>A c.(70-72)Gag>Aag p.E24K ADH5_ENST00000512991.1_5'UTR NM_000671.3 NP_000662.3 P11766 ADHX_HUMAN alcohol dehydrogenase 5 (class III), chi polypeptide 24 ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) ACCTCTATCTCCTCTATGGAG 0.453000 10 6 0 0 0.411799 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138719360 138719360 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:138719360G>A ENST00000389532.4 - 8 1180 c.1116C>T c.(1114-1116)ttC>ttT p.F372F CAMSAP1_ENST00000409386.3_Silent_p.F383F|CAMSAP1_ENST00000312405.6_Silent_p.F94F NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 372 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GGCTGCCTAGGAAACTGCGTT 0.597000 11 37 0 0 0.387290 0 0 CAPSL 133690 broad.mit.edu 37 5 35910094 35910094 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:35910094G>A ENST00000397367.2 - 4 525 c.399C>T c.(397-399)atC>atT p.I133I CAPSL_ENST00000397366.1_Silent_p.I133I|CAPSL_ENST00000514524.1_Silent_p.I133I NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 133 EF-hand 3. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) GAAGGTCTTCGATTGTTATAA 0.383000 62 211 0 0 0.870114 0 0 PACSIN2 11252 broad.mit.edu 37 22 43287098 43287098 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:43287098G>T ENST00000263246.3 - 4 509 c.308C>A c.(307-309)tCa>tAa p.S103* PACSIN2_ENST00000407585.1_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000337959.4_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000403744.3_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000402229.1_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000496919.1_5'UTR NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 103 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) GTTCATCAGTGAGGCCTTCAC 0.582000 20 83 1.64113e-05 1.68771e-05 0.592651 1 0 C19orf40 91442 broad.mit.edu 37 19 33467558 33467558 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:33467558G>T ENST00000588258.1 + 5 728 c.618G>T c.(616-618)caG>caT p.Q206H C19orf40_ENST00000589646.1_Missense_Mutation_p.Q111H|C19orf40_ENST00000590281.1_Missense_Mutation_p.Q206H|C19orf40_ENST00000590179.1_Missense_Mutation_p.Q111H NM_152266.3 NP_689479.1 Q9BTP7 FAP24_HUMAN chromosome 19 open reading frame 40 206 RuvA domain 2-like. DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Esophageal squamous(110;0.137) TGGCACAGCAGATCCATGCCT 0.542000 Direct reversal of damage OREG0025408 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 135 6.1207e-33 6.61465e-33 0.864702 1 0 CCT6B 10693 broad.mit.edu 37 17 33266221 33266221 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:33266221G>C ENST00000314144.5 - 10 1309 c.1194C>G c.(1192-1194)atC>atG p.I398M CCT6B_ENST00000436961.3_Missense_Mutation_p.I353M|CCT6B_ENST00000421975.3_Missense_Mutation_p.I361M NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 398 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) TGGCATTTTTGATAGCACGAA 0.363000 7 281 0 0 0.248553 0 0 GRM1 2911 broad.mit.edu 37 6 146673564 146673564 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:146673564C>T ENST00000392299.2 + 5 1835 c.1365C>T c.(1363-1365)atC>atT p.I455I GRM1_ENST00000361719.2_Silent_p.I455I|GRM1_ENST00000282753.1_Silent_p.I455I|GRM1_ENST00000492807.2_Silent_p.I455I|GRM1_ENST00000507907.1_Silent_p.I455I|GRM1_ENST00000355289.4_Silent_p.I455I Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 455 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ACTTCCTCATCAAGTCCTCAT 0.522000 70 283 0 0 0.870114 0 0 NOM1 64434 broad.mit.edu 37 7 156746954 156746954 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:156746954C>T ENST00000275820.3 + 3 1285 c.1270C>T c.(1270-1272)Ctc>Ttc p.L424F NOM1_ENST00000460332.1_3'UTR NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 424 MIF4G. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GGAGCATGTTCTCTTAGTCAG 0.502000 13 61 0 0 0.500413 0 0 UNC79 57578 broad.mit.edu 37 14 94084637 94084637 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:94084637G>A ENST00000553484.1 + 30 4544 c.4390G>A c.(4390-4392)Gcc>Acc p.A1464T UNC79_ENST00000393151.2_Missense_Mutation_p.A1442T|UNC79_ENST00000555664.1_Missense_Mutation_p.A1442T|UNC79_ENST00000256339.4_Missense_Mutation_p.A1265T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1442 integral to membrane p.A1464P(1)|p.A1265P(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CAAGCCCCATGCCACGGCAGG 0.423000 71 46 0 0 0.870114 0 0 HPSE 10855 broad.mit.edu 37 4 84234362 84234362 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:84234362C>G ENST00000405413.2 - 5 714 c.578G>C c.(577-579)aGa>aCa p.R193T HPSE_ENST00000512196.1_Missense_Mutation_p.R193T|HPSE_ENST00000513463.1_Intron|HPSE_ENST00000311412.5_Missense_Mutation_p.R193T NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 193 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) ATCTGCTGTTCTTAATAACGC 0.423000 32 58 0 0 0.788014 0 0 CACNA2D1 781 broad.mit.edu 37 7 81603800 81603800 + Missense_Mutation SNP A A C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:81603800A>C ENST00000356860.3 - 25 2362 c.2024T>G c.(2023-2025)aTt>aGt p.I675S CACNA2D1_ENST00000356253.5_Missense_Mutation_p.I687S NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 687 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTTTCTATCAATAAACTCGTT 0.284000 3 38 0 0 0.115264 0 0 ABCG8 64241 broad.mit.edu 37 2 44079754 44079754 + Missense_Mutation SNP C C A rs55702734 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:44079754C>A ENST00000272286.2 + 6 801 c.711C>A c.(709-711)gaC>gaA p.D237E NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 237 ABC transporter. 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 NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTATTCTCGACGAACCCACCT 0.612000 63 133 1.84395e-34 1.99626e-34 0.870114 1 0 CPT1A 1374 broad.mit.edu 37 11 68575046 68575046 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:68575046C>G ENST00000265641.5 - 4 496 c.342G>C c.(340-342)ctG>ctC p.L114L CPT1A_ENST00000376618.2_Silent_p.L114L|CPT1A_ENST00000540367.1_Silent_p.L114L|CPT1A_ENST00000539743.1_Silent_p.L114L NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 114 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GGGCCACCCACAGGCCGGTGC 0.607000 14 56 0 0 0.457914 0 0 PIGO 84720 broad.mit.edu 37 9 35092440 35092440 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:35092440G>C ENST00000378617.3 - 7 1838 c.1444C>G c.(1444-1446)Cta>Gta p.L482V PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.L482V NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 482 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GTCAGGAGTAGAGGGCAGAAT 0.582000 3 118 0 0 0.150653 0 0 INTU 27152 broad.mit.edu 37 4 128626859 128626859 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:128626859C>G ENST00000335251.5 + 11 1783 c.1680C>G c.(1678-1680)atC>atG p.I560M INTU_ENST00000512995.1_3'UTR NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 560 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 GTCAGTTGATCATATGGAGAG 0.443000 29 319 0 0 0.729181 0 0 NLRP7 199713 broad.mit.edu 37 19 55450851 55450851 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:55450851G>A ENST00000446217.1 - 6 1822 c.1420C>T c.(1420-1422)Cgt>Tgt p.R474C NLRP7_ENST00000592784.1_Missense_Mutation_p.R446C|NLRP7_ENST00000590030.1_Missense_Mutation_p.R446C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R446C|NLRP7_ENST00000588756.1_Missense_Mutation_p.R446C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R446C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R446C Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 446 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AGGAACAGACGGAGGTCGGAC 0.632000 21 70 0 0 0.654019 0 0 POU3F2 5454 broad.mit.edu 37 6 99282855 99282855 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:99282855G>T ENST00000328345.5 + 1 276 c.106G>T c.(106-108)Gaa>Taa p.E36* NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 36 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity p.E36Q(1) endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) GGGCTACCGCGAAGCGCAGAG 0.711000 7 24 4.93089e-13 5.18333e-13 0.457914 1 0 THSD4 79875 broad.mit.edu 37 15 71535271 71535271 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:71535271G>C ENST00000355327.3 + 5 882 c.748G>C c.(748-750)Gat>Cat p.D250H THSD4_ENST00000261862.6_Missense_Mutation_p.D250H Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 250 TSP type-1 1. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TTTGACCCATGATCAAGGCTA 0.582000 27 127 0 0 0.681144 0 0 NPM2 10361 broad.mit.edu 37 8 21891774 21891774 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:21891774G>A ENST00000397940.1 + 6 1534 c.519G>A c.(517-519)gcG>gcA p.A173A NPM2_ENST00000289820.6_Silent_p.A173A|NPM2_ENST00000521157.1_Silent_p.A173A|NPM2_ENST00000518119.1_Silent_p.A173A|NPM2_ENST00000381530.5_Intron Q86SE8 NPM2_HUMAN nucleophosmin/nucleoplasmin 2 173 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) AGAAGCAGGCGAGCGTGGCTA 0.567000 5 66 0 0 0.248553 0 0 ACVR1C 130399 broad.mit.edu 37 2 158399269 158399269 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:158399269G>C ENST00000243349.7 - 6 1409 c.1049C>G c.(1048-1050)tCa>tGa p.S350* ACVR1C_ENST00000335450.7_Nonsense_Mutation_p.S270*|ACVR1C_ENST00000348328.5_Nonsense_Mutation_p.S193*|ACVR1C_ENST00000409680.3_Nonsense_Mutation_p.S300* NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 350 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 GTTCAGTATTGAATCATGCTT 0.418000 72 150 0 0 0.870114 0 0 HTR3C 170572 broad.mit.edu 37 3 183777329 183777329 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:183777329G>A ENST00000318351.1 + 7 860 c.826G>A c.(826-828)Gag>Aag p.E276K NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 276 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) AGCAGAGAGCGAGAATCGTGC 0.547000 55 317 0 0 0.870114 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447838 24447838 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:24447838G>A ENST00000270800.1 - 7 1220 c.1182C>T c.(1180-1182)gcC>gcT p.A394A NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 394 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TGTCCGGAGTGGCTTGAGGGG 0.572000 45 69 0 0 0.853193 0 0 SUPT6H 6830 broad.mit.edu 37 17 27001330 27001330 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:27001330G>T ENST00000314616.6 + 3 422 c.139G>T c.(139-141)Gat>Tat p.D47Y SUPT6H_ENST00000347486.4_Missense_Mutation_p.D47Y NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 47 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GAACCTAGATGATCAGGATGA 0.468000 17 53 1.37285e-15 1.45056e-15 0.500413 1 0 CALB2 794 broad.mit.edu 37 16 71418697 71418697 + Silent SNP G G A rs143688092 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:71418697G>A ENST00000302628.4 + 9 662 c.585G>A c.(583-585)ctG>ctA p.L195L CALB2_ENST00000349553.5_Intron NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 195 EF-hand 5. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) GCATGAAGCTGACCTCAGAGG 0.502000 52 132 0 0 0.870114 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319636 21319636 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:21319636G>C ENST00000583088.1 + 3 1877 c.982G>C c.(982-984)Gag>Cag p.E328Q KCNJ12_ENST00000331718.5_Missense_Mutation_p.E328Q 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) TCACCGCTTTGAGCCCGTGCT 0.592000 Prostate(3;0.18) 23 188 0 0 0.624587 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062412 76062412 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:76062412G>A ENST00000260045.3 - 5 1887 c.1782C>T c.(1780-1782)ttC>ttT p.F594F NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 594 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 GCTGTTCTGAGAATATATCTT 0.418000 61 143 0 0 0.870114 0 0 GNB3 2784 broad.mit.edu 37 12 6952355 6952355 + Nonsense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:6952355C>A ENST00000229264.3 + 6 626 c.221C>A c.(220-222)tCg>tAg p.S74* GNB3_ENST00000435982.2_Nonsense_Mutation_p.S74* NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 74 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 GTAAGTGCCTCGCAAGATGGG 0.612000 45 145 2.38262e-10 2.48551e-10 0.853193 1 0 ABCF2 10061 broad.mit.edu 37 7 150916225 150916225 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:150916225C>T ENST00000287844.2 - 8 1051 c.942G>A c.(940-942)gtG>gtA p.V314V ABCF2_ENST00000222388.2_Silent_p.V314V|ABCF2_ENST00000473874.1_5'UTR NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 314 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCGCGTCTTCACGTACTGAT 0.502000 71 201 0 0 0.870114 0 0 USP19 10869 broad.mit.edu 37 3 49149116 49149116 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:49149116G>T ENST00000453664.1 - 21 3316 c.2998C>A c.(2998-3000)Cag>Aag p.Q1000K USP19_ENST00000417901.1_Missense_Mutation_p.Q1012K|USP19_ENST00000398892.3_Missense_Mutation_p.Q949K|USP19_ENST00000398896.1_Missense_Mutation_p.Q717K|USP19_ENST00000398898.2_Missense_Mutation_p.Q949K|USP19_ENST00000398888.2_Missense_Mutation_p.Q909K|USP19_ENST00000434032.2_Missense_Mutation_p.Q1010K NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 909 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCAGGTGGCTGAATGGGGTCT 0.672000 55 52 6.3091e-27 6.75897e-27 0.870114 1 0 RNF216 54476 broad.mit.edu 37 7 5662592 5662592 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:5662592G>C ENST00000425013.2 - 17 2724 c.2500C>G c.(2500-2502)Ctg>Gtg p.L834V RNF216_ENST00000389902.3_Missense_Mutation_p.L891V|RNF216_ENST00000469375.1_5'UTR NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 834 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) ACGTTGGGCAGAGGGGGCACG 0.647000 69 186 0 0 0.870114 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28297298 28297298 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:28297298C>T ENST00000414429.1 - 6 1066 c.163G>A c.(163-165)Gaa>Aaa p.E55K ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E55K|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E55K|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E55K zinc finger and SCAN domain containing 31 CTCAGAGCTTCTCGGGGACCA 0.522000 126 195 0 0 0.870114 0 0 PARP8 79668 broad.mit.edu 37 5 50073932 50073932 + Missense_Mutation SNP T T G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:50073932T>G ENST00000281631.5 + 8 706 c.548T>G c.(547-549)aTt>aGt p.I183S PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_De_novo_Start_InFrame|PARP8_ENST00000505554.1_Missense_Mutation_p.I162S|PARP8_ENST00000503750.2_Missense_Mutation_p.I183S|PARP8_ENST00000505697.2_Missense_Mutation_p.I183S|PARP8_ENST00000514067.2_Missense_Mutation_p.I183S NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 183 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) GATGTAGATATTGATCTGCAT 0.279000 18 51 0 0 0.624587 0 0 C16orf71 146562 broad.mit.edu 37 16 4797506 4797506 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:4797506C>G ENST00000299320.5 + 9 1921 c.1443C>G c.(1441-1443)ctC>ctG p.L481L RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.L498L NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 481 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 ACATGAAGCTCTGTGCCAAGG 0.677000 22 39 0 0 0.639603 0 0 HDHD2 84064 broad.mit.edu 37 18 44660911 44660911 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:44660911C>T ENST00000300605.6 - 3 418 c.266G>A c.(265-267)aGa>aAa p.R89K HDHD2_ENST00000587841.1_Intron NM_032124.4 NP_115500.1 Q9H0R4 HDHD2_HUMAN haloacid dehalogenase-like hydrolase domain containing 2 89 hydrolase activity kidney(2)|large_intestine(2)|lung(1)|skin(1) 6 CAGCATGGGTCTGACTTGTTT 0.363000 44 76 0 0 0.870114 0 0 KIF21B 23046 broad.mit.edu 37 1 200960823 200960823 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:200960823G>A ENST00000332129.2 - 17 2732 c.2416C>T c.(2416-2418)Cgg>Tgg p.R806W KIF21B_ENST00000422435.2_Missense_Mutation_p.R806W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R806W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R806W NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 806 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TCCTGCTGCCGCTTCTGGGAC 0.617000 22 38 0 0 0.729181 0 0 TMEM132B 114795 broad.mit.edu 37 12 126136994 126136994 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:126136994C>T ENST00000299308.3 + 8 1915 c.1907C>T c.(1906-1908)tCg>tTg p.S636L TMEM132B_ENST00000535886.1_Missense_Mutation_p.S148L NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 636 integral to membrane p.S636L(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CAGGTCCTCTCGCCGTTGTCT 0.567000 16 32 0 0 0.479597 0 0 CXorf22 170063 broad.mit.edu 37 X 35974208 35974208 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:35974208C>G ENST00000297866.5 + 8 1371 c.1305C>G c.(1303-1305)atC>atG p.I435M NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 435 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TTCAGTGCATCATAAAAAATC 0.378000 44 34 0 0 0.834066 0 0 PLCL2 23228 broad.mit.edu 37 3 17056235 17056235 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:17056235C>T ENST00000418129.2 + 3 2937 c.2472C>T c.(2470-2472)ctC>ctT p.L824L PLCL2_ENST00000432376.1_Silent_p.L824L|PLCL2_ENST00000396755.2_Silent_p.L824L NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 950 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TGTGTGGCCTCTCCTCTGTGG 0.488000 122 161 0 0 0.870114 0 0 HSF5 124535 broad.mit.edu 37 17 56540556 56540556 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:56540556G>A ENST00000323777.3 - 4 1238 c.1129C>T c.(1129-1131)Cag>Tag p.Q377* NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 377 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCAACTATCTGAAAGACAGCC 0.443000 51 139 0 0 0.870114 0 0 PLG 5340 broad.mit.edu 37 6 161157959 161157959 + Silent SNP G G A rs146030266 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:161157959G>A ENST00000308192.9 + 14 1785 c.1722G>A c.(1720-1722)ccG>ccA p.P574P NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 574 extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AAGTGGAGCCGAAGAAATGTC 0.517000 42 85 0 0 0.840704 0 0 CSNK1E 1454 broad.mit.edu 37 22 38696025 38696025 + Missense_Mutation SNP A A T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:38696025A>T ENST00000396832.1 - 6 871 c.611T>A c.(610-612)aTg>aAg p.M204K CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000413574.2_Missense_Mutation_p.M204K|CSNK1E_ENST00000405675.3_Missense_Mutation_p.M204K|CSNK1E_ENST00000400206.2_Missense_Mutation_p.M204K|CSNK1E_ENST00000359867.3_Missense_Mutation_p.M204K|CSNK1E_ENST00000403904.1_Missense_Mutation_p.M204K NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 204 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) GTTGAAGTACATGAGCACGTA 0.582000 29 89 0 0 0.729181 0 0 ANGEL1 23357 broad.mit.edu 37 14 77269772 77269772 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:77269772G>A ENST00000251089.2 - 7 1672 c.1560C>T c.(1558-1560)atC>atT p.I520I ANGEL1_ENST00000557179.1_Silent_p.I85I NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 520 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) GCTGACAAGCGATGCTGCAGA 0.473000 83 61 0 0 0.870114 0 0 FARSB 10056 broad.mit.edu 37 2 223489148 223489148 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:223489148G>A ENST00000281828.6 - 12 1276 c.1013C>T c.(1012-1014)tCa>tTa p.S338L FARSB_ENST00000536361.1_Missense_Mutation_p.S239L NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 338 B5. phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TATGACTTCTGATTTTAAATA 0.353000 19 84 0 0 0.557998 0 0 C9orf47 286223 broad.mit.edu 37 9 91606129 91606129 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:91606129G>A ENST00000334490.5 + 1 287 c.219G>A c.(217-219)ccG>ccA p.P73P C9orf47_ENST00000375851.2_Intron|C9orf47_ENST00000375850.3_Intron Q6ZRZ4 CI047_HUMAN chromosome 9 open reading frame 47 73 extracellular region endometrium(1)|large_intestine(1)|liver(1)|lung(1) 4 AACAGGGGCCGAAGGGCGAGC 0.706000 7 7 0 0 0.248553 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25251184 25251184 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:25251184C>T ENST00000328086.7 - 7 3660 c.2857G>A c.(2857-2859)Gag>Aag p.E953K NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 953 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) TGTGGGTTCTCAGGGCAATAC 0.423000 50 159 0 0 0.870114 0 0 PSG8 440533 broad.mit.edu 37 19 43268174 43268174 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:43268174C>T ENST00000404209.4 - 2 420 c.324G>A c.(322-324)ctG>ctA p.L108L PSG8_ENST00000306511.4_Silent_p.L108L|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Silent_p.L108L NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 108 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CATTCTGGATCAGCAGGGATG 0.418000 179 481 0 0 0.870114 0 0 PLXNB2 23654 broad.mit.edu 37 22 50718104 50718104 + Silent SNP G G C rs149176335 by1000genomes TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:50718104G>C ENST00000449103.1 - 27 4484 c.4344C>G c.(4342-4344)ctC>ctG p.L1448L PLXNB2_ENST00000359337.4_Silent_p.L1448L O15031 PLXB2_HUMAN plexin B2 1448 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCGTGTCGTTGAGAGTGTACT 0.617000 4 276 0 0 0.150653 0 0 BCL2L14 79370 broad.mit.edu 37 12 12291889 12291889 + Nonstop_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:12291889G>C ENST00000396369.1 + 6 1026 c.831G>C c.(829-831)taG>taC p.*277Y LRP6_ENST00000543091.1_Intron|LRP6_ENST00000261349.4_Intron Q9BZR8 B2L14_HUMAN BCL2-like 14 (apoptosis facilitator) 0 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) AACACAATTAGAAAAAATGAC 0.453000 11 17 0 0 0.361761 0 0 AMDHD1 144193 broad.mit.edu 37 12 96348697 96348697 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:96348697G>A ENST00000266736.2 + 3 359 c.253G>A c.(253-255)Gat>Aat p.D85N NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 85 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 AGGTTTGGTGGATGCACACAC 0.393000 28 78 0 0 0.717897 0 0 DCAF6 55827 broad.mit.edu 37 1 168014243 168014243 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:168014243C>G ENST00000367840.3 + 16 2130 c.2036C>G c.(2035-2037)tCt>tGt p.S679C DCAF6_ENST00000367843.3_Missense_Mutation_p.S622C|DCAF6_ENST00000312263.6_Missense_Mutation_p.S602C|DCAF6_ENST00000432587.2_Missense_Mutation_p.S648C NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 603 IQ. positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TCTGCTTCATCTGAAAAAGCC 0.443000 24 168 0 0 0.624587 0 0 ABCA13 154664 broad.mit.edu 37 7 48315502 48315502 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:48315502C>G ENST00000435803.1 + 17 6263 c.6239C>G c.(6238-6240)tCt>tGt p.S2080C NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2080 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CACCTGCTTTCTGAAATGAAC 0.363000 15 52 0 0 0.479597 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564298 176564298 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:176564298C>T ENST00000367662.3 + 3 2722 c.1558C>T c.(1558-1560)Cgg>Tgg p.R520W PAPPA2_ENST00000367661.3_Missense_Mutation_p.R520W NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 520 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.R520G(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 CTGGCCCCTTCGGGGAGAGAA 0.537000 32 50 0 0 0.760397 0 0 ZNF282 8427 broad.mit.edu 37 7 148895519 148895519 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:148895519G>A ENST00000262085.3 + 2 365 c.260G>A c.(259-261)cGa>cAa p.R87Q ZNF282_ENST00000479907.1_Missense_Mutation_p.R87Q NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 87 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CGCATGATGCGAGAGCCCCAG 0.602000 24 84 0 0 0.639603 0 0 COL11A2 1302 broad.mit.edu 37 6 33135224 33135224 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:33135224C>G ENST00000341947.2 - 56 4328 c.4101G>C c.(4099-4101)ctG>ctC p.L1367L COL11A2_ENST00000395197.1_Silent_p.L1307L|COL11A2_ENST00000374708.4_Silent_p.L1281L|COL11A2_ENST00000357486.1_Silent_p.L1346L|COL11A2_ENST00000374712.1_Silent_p.L1286L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Silent_p.L1320L|COL11A2_ENST00000374714.1_Silent_p.L1341L|COL11A2_ENST00000361917.1_Silent_p.L1260L NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1367 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GGAGCCCCCTCAGACCATCAG 0.667000 30 32 0 0 0.740014 0 0 NEB 4703 broad.mit.edu 37 2 152548584 152548584 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:152548584G>C ENST00000427231.2 - 22 2297 c.2095C>G c.(2095-2097)Caa>Gaa p.Q699E NEB_ENST00000397345.3_Missense_Mutation_p.Q699E|NEB_ENST00000604864.1_Missense_Mutation_p.Q699E|NEB_ENST00000172853.10_Missense_Mutation_p.Q699E|NEB_ENST00000409198.1_Missense_Mutation_p.Q699E|NEB_ENST00000603639.1_Missense_Mutation_p.Q699E NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 699 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) TCACTGTTTTGAGCTGCAACT 0.373000 49 170 0 0 0.870114 0 0 KCNB1 3745 broad.mit.edu 37 20 47990509 47990509 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:47990509C>T ENST00000371741.4 - 2 1754 c.1588G>A c.(1588-1590)Gaa>Aaa p.E530K NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 530 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TACATGTCTTCCAACTGCTGA 0.468000 98 295 0 0 0.870114 0 0 ESYT3 83850 broad.mit.edu 37 3 138178802 138178802 + Missense_Mutation SNP C C T rs62282904 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:138178802C>T ENST00000389567.4 + 6 850 c.664C>T c.(664-666)Cgg>Tgg p.R222W ESYT3_ENST00000289135.4_Missense_Mutation_p.R222W NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 222 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 GGGCACCCTGCGGGTCATCCT 0.632000 53 148 0 0 0.870114 0 0 ZNF836 162962 broad.mit.edu 37 19 52659726 52659726 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:52659726G>A ENST00000322146.8 - 5 1731 c.1210C>T c.(1210-1212)Cat>Tat p.H404Y CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.H404Y NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 ACTGTCTGATGAGTTGCCAGG 0.403000 5 105 0 0 0.217242 0 0 UBXN1 51035 broad.mit.edu 37 11 62444320 62444320 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:62444320G>C ENST00000294119.2 - 8 940 c.809C>G c.(808-810)tCa>tGa p.S270* UBXN1_ENST00000301935.5_Nonsense_Mutation_p.S270*|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Nonsense_Mutation_p.S266* NM_015853.3 NP_056937.2 Q04323 UBXN1_HUMAN UBX domain protein 1 270 Interaction with BRCA1.|UBX. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 GTCAGCTTCTGAGAAGGCCCG 0.592000 62 187 0 0 0.870114 0 0 GLG1 2734 broad.mit.edu 37 16 74516954 74516954 + Missense_Mutation SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:74516954A>G ENST00000422840.2 - 10 1639 c.1640T>C c.(1639-1641)tTa>tCa p.L547S GLG1_ENST00000447066.2_Missense_Mutation_p.L536S|GLG1_ENST00000205061.5_Missense_Mutation_p.L547S NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 547 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CTGCAGCTCTAAGAGACGGTG 0.403000 35 96 0 0 0.819951 0 0 ANKRD20A4 728747 broad.mit.edu 37 9 69423576 69423576 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:69423576G>C ENST00000357336.3 + 15 2153 c.1872G>C c.(1870-1872)gtG>gtC p.V624V NM_001098805.1 NP_001092275.1 Q4UJ75 A20A4_HUMAN ankyrin repeat domain 20 family, member A4 624 breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2) 16 GTGAAAGTGTGAAAACAGAAA 0.358000 25 72 0 0 0.693898 0 0 BCORL1 63035 broad.mit.edu 37 X 129147430 129147430 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:129147430C>T ENST00000540052.1 + 3 726 c.682C>T c.(682-684)Cct>Tct p.P228S BCORL1_ENST00000359304.2_Missense_Mutation_p.P228S|BCORL1_ENST00000218147.7_Missense_Mutation_p.P228S|BCORL1_ENST00000303743.5_Missense_Mutation_p.P228S NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 228 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CCTCTCCGTCCCTGCCCCAGT 0.622000 5 178 0 0 0.184627 0 0 CCDC53 51019 broad.mit.edu 37 12 102439861 102439861 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:102439861C>G ENST00000240079.6 - 3 348 c.187G>C c.(187-189)Gaa>Caa p.E63Q CCDC53_ENST00000545679.1_Missense_Mutation_p.E63Q|CCDC53_ENST00000539515.1_5'UTR NM_016053.2 NP_057137.1 Q9Y3C0 CCD53_HUMAN coiled-coil domain containing 53 63 WASH complex protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 AGAGTTGTTTCAATTTGTTGG 0.284000 3 13 0 0 0.115264 0 0 SHB 6461 broad.mit.edu 37 9 37974647 37974647 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:37974647C>G ENST00000377707.3 - 3 1591 c.1026G>C c.(1024-1026)tgG>tgC p.W342C RP11-613M10.9_ENST00000540557.1_3'UTR NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 342 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TGACCCGGTTCCACTCCCAAG 0.657000 34 71 0 0 0.847076 0 0 GPR161 23432 broad.mit.edu 37 1 168065809 168065809 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:168065809G>A ENST00000367838.1 - 5 1349 c.1036C>T c.(1036-1038)Cgg>Tgg p.R346W GPR161_ENST00000539777.1_Missense_Mutation_p.R268W|GPR161_ENST00000271357.5_Missense_Mutation_p.R346W|GPR161_ENST00000367836.1_Missense_Mutation_p.R214W|GPR161_ENST00000537209.1_Missense_Mutation_p.R366W|GPR161_ENST00000546300.1_Missense_Mutation_p.R232W|GPR161_ENST00000361697.2_Missense_Mutation_p.R346W|GPR161_ENST00000367835.1_Missense_Mutation_p.R346W NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 346 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) AATGGTTCCCGATAATACCGG 0.527000 44 66 0 0 0.840704 0 0 HOXC4 3221 broad.mit.edu 37 12 54448756 54448756 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:54448756G>A ENST00000430889.2 + 2 608 c.562G>A c.(562-564)Gag>Aag p.E188K HOXC4_ENST00000303406.4_Missense_Mutation_p.E188K NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 188 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 GAGAAGGATCGAGATCGCCCA 0.532000 19 41 0 0 0.539581 0 0 PIK3IP1 113791 broad.mit.edu 37 22 31685563 31685563 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:31685563C>A ENST00000215912.5 - 4 613 c.430G>T c.(430-432)Gca>Tca p.A144S PIK3IP1_ENST00000441972.1_Missense_Mutation_p.A144S|PIK3IP1_ENST00000487265.2_Missense_Mutation_p.A65S|PIK3IP1_ENST00000402249.3_Missense_Mutation_p.A144S NM_052880.4 NP_443112.2 Q96FE7 P3IP1_HUMAN phosphoinositide-3-kinase interacting protein 1 144 integral to membrane large_intestine(2)|lung(1)|ovary(1) 4 TGCACAGCTGCCGCCTCACTC 0.617000 4 6 0.000602214 0.000615197 0.184627 1 0 XIRP2 129446 broad.mit.edu 37 2 168106418 168106418 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:168106418G>T ENST00000409195.1 + 9 8605 c.8516G>T c.(8515-8517)aGa>aTa p.R2839I XIRP2_ENST00000295237.9_Missense_Mutation_p.R2839I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2617I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2664 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATAACTGAAAGAAAACACGAA 0.383000 4 119 0.00909568 0.00921536 0.150653 1 0 CELA3A 10136 broad.mit.edu 37 1 22329569 22329569 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:22329569C>T ENST00000290122.3 + 2 136 c.117C>T c.(115-117)agC>agT p.S39S CELA3A_ENST00000374663.1_Silent_p.S39S NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCCCTACAGCTGGCCCTGGC 0.597000 22 121 0 0 0.608945 0 0 ACAD10 80724 broad.mit.edu 37 12 112140045 112140045 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:112140045G>A ENST00000455480.2 + 3 444 c.267G>A c.(265-267)atG>atA p.M89I ACAD10_ENST00000549590.1_Missense_Mutation_p.M89I|ACAD10_ENST00000313698.4_Missense_Mutation_p.M89I|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 89 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GGCCCTGGATGAGATTTATGA 0.403000 70 162 0 0 0.870114 0 0 MIDN 90007 broad.mit.edu 37 19 1254429 1254429 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:1254429C>T ENST00000300952.2 + 5 1163 c.648C>T c.(646-648)atC>atT p.I216I MIDN_ENST00000591446.2_Silent_p.I216I NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 216 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) CCTCGCCCATCACAGCCGGCT 0.711000 3 4 0 0 0.115264 0 0 STON1 11037 broad.mit.edu 37 2 48809196 48809196 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:48809196C>G ENST00000309835.3 + 1 1434 c.1424C>G c.(1423-1425)tCa>tGa p.S475* STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.S475*|STON1_ENST00000406226.1_Nonsense_Mutation_p.S475*|STON1_ENST00000404752.1_Nonsense_Mutation_p.S475* stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GAGAAGGACTCAGAAAAAAAG 0.368000 41 142 0 0 0.827153 0 0 TSC22D1 8848 broad.mit.edu 37 13 45008797 45008797 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:45008797G>T ENST00000458659.2 - 3 3677 c.3187C>A c.(3187-3189)Cag>Aag p.Q1063K TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Missense_Mutation_p.Q134K NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 1063 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) GATGCTGGCTGGGCGGGGGGC 0.652000 6 33 0.00307968 0.0031305 0.278610 1 0 APBA1 320 broad.mit.edu 37 9 72132030 72132030 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:72132030C>T ENST00000265381.4 - 2 319 c.97G>A c.(97-99)Gag>Aag p.E33K NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 33 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TCTTCCACCTCGGGGTGCTCC 0.701000 7 3 0 0 0.248553 0 0 ZNF551 90233 broad.mit.edu 37 19 58199369 58199369 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:58199369C>G ENST00000282296.5 + 3 1911 c.1726C>G c.(1726-1728)Caa>Gaa p.Q576E AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.Q560E NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TAGCCTCATTCAACACCAGAG 0.468000 42 116 0 0 0.840704 0 0 KLHL12 59349 broad.mit.edu 37 1 202861736 202861736 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:202861736G>A ENST00000367261.3 - 12 1850 c.1632C>T c.(1630-1632)atC>atT p.I544I KLHL12_ENST00000367259.1_3'UTR|KLHL12_ENST00000435533.3_Silent_p.I582I NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 544 Interaction with DVL3. Wnt receptor signaling pathway protein binding NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) CCCAGCTGTCGATGATAGGGT 0.488000 12 105 0 0 0.387290 0 0 SRCAP 10847 broad.mit.edu 37 16 30712176 30712176 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:30712176C>T ENST00000262518.4 + 3 416 c.31C>T c.(31-33)Cag>Tag p.Q11* SRCAP_ENST00000395059.2_Nonsense_Mutation_p.Q11*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.Q11* NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 11 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TGCTCACCCTCAGCTCCCAGT 0.552000 23 90 0 0 0.667858 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43650991 43650991 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:43650991G>C ENST00000374466.3 + 2 729 c.394G>C c.(394-396)Gaa>Caa p.E132Q CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.E132Q NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 132 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGACAAAGCTGAAGTTAGCAT 0.413000 44 63 0 0 0.870114 0 0 HLA-B 3106 broad.mit.edu 37 6 31324214 31324214 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:31324214G>C ENST00000412585.2 - 3 377 c.349C>G c.(349-351)Cac>Gac p.H117D NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 TGGAGGGTGTGAGACCCTGGC 0.697000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 7 17 0 0 0.248553 0 0 ATP1A2 477 broad.mit.edu 37 1 160106385 160106385 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:160106385C>G ENST00000361216.3 + 19 2678 c.2589C>G c.(2587-2589)ttC>ttG p.F863L ATP1A2_ENST00000392233.3_Missense_Mutation_p.F863L|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 863 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGGGTGGCTTCTTCACCTACT 0.602000 25 111 0 0 0.693898 0 0 DPF3 8110 broad.mit.edu 37 14 73137905 73137905 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:73137905G>A ENST00000541685.1 - 9 1025 c.1013C>T c.(1012-1014)tCc>tTc p.S338F DPF3_ENST00000556509.1_Intron|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.S348F NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 169 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TCCTCGACAGGAGCGAGGCTC 0.572000 51 31 0 0 0.870114 0 0 MED13 9969 broad.mit.edu 37 17 60088194 60088194 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:60088194G>A ENST00000397786.2 - 9 1760 c.1684C>T c.(1684-1686)Caa>Taa p.Q562* NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 562 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GTTGGCATTTGATAAAAATGT 0.438000 46 112 0 0 0.864702 0 0 BTNL8 79908 broad.mit.edu 37 5 180377003 180377003 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:180377003C>G ENST00000340184.4 + 8 1168 c.962C>G c.(961-963)tCt>tGt p.S321C BTNL8_ENST00000511704.1_Missense_Mutation_p.S205C|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.S196C|BTNL8_ENST00000533815.2_Missense_Mutation_p.S137C|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.S114C NM_001040462.2 NP_001035552.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 321 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGCCTCACTCTGAGAAGAGA 0.517000 35 92 0 0 0.864702 0 0 MNDA 4332 broad.mit.edu 37 1 158812162 158812162 + Silent SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:158812162A>G ENST00000368141.4 + 2 480 c.219A>G c.(217-219)ccA>ccG p.P73P MNDA_ENST00000491210.1_3'UTR NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 73 DAPIN. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AAGATATGCCATCACTTAAAA 0.373000 50 112 0 0 0.870114 0 0 ZNF607 84775 broad.mit.edu 37 19 38189234 38189234 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:38189234G>T ENST00000355202.4 - 5 2393 c.1798C>A c.(1798-1800)Cat>Aat p.H600N CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H599N NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) TGTGAAGCATGACTAAAAGTT 0.398000 23 78 5.45024e-15 5.75381e-15 0.654019 1 0 STEAP2-AS1 100874100 broad.mit.edu 37 7 89749178 89749178 + RNA SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:89749178C>T ENST00000478318.2 - 0 424 RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA CTTTGGACTTCGGTAAGGAGA 0.572000 11 22 0 0 0.361761 0 0 CKAP5 9793 broad.mit.edu 37 11 46801864 46801864 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:46801864C>G ENST00000529230.1 - 20 2359 c.2313G>C c.(2311-2313)gtG>gtC p.V771V CKAP5_ENST00000354558.3_Silent_p.V771V|CKAP5_ENST00000312055.5_Silent_p.V771V|CKAP5_ENST00000415402.1_Silent_p.V771V Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 771 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 CAGCAGTCCTCACAGCCTGCC 0.418000 12 42 0 0 0.387290 0 0 HVCN1 84329 broad.mit.edu 37 12 111099112 111099112 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:111099112C>T ENST00000356742.5 - 3 916 c.163G>A c.(163-165)Gag>Aag p.E55K HVCN1_ENST00000439744.2_Missense_Mutation_p.E35K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E55K|HVCN1_ENST00000242607.8_Missense_Mutation_p.E55K Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 55 Poly-Glu. response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 GGTGGCTGctcctcctcctcc 0.607000 19 50 0 0 0.575678 0 0 TRIM5 85363 broad.mit.edu 37 11 5701231 5701231 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:5701231C>G ENST00000305836.5 - 2 479 c.177G>C c.(175-177)cgG>cgC p.R59R TRIM5_ENST00000396853.4_Silent_p.R59R|TRIM5_ENST00000380034.3_Silent_p.R59R|TRIM5_ENST00000380027.1_Silent_p.R59R|TRIM5_ENST00000396847.3_Silent_p.R59R|TRIM5_ENST00000396855.3_Silent_p.R59R Q9C035 TRIM5_HUMAN tripartite motif containing 5 59 interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) GGTAACTGATCCGGCACACAG 0.547000 6 234 0 0 0.217242 0 0 C1orf168 199920 broad.mit.edu 37 1 57257831 57257831 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:57257831G>C ENST00000343433.6 - 2 735 c.655C>G c.(655-657)Caa>Gaa p.Q219E C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 219 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CTGATATGTTGAGAAATTACA 0.522000 50 279 0 0 0.870114 0 0 PARD3 56288 broad.mit.edu 37 10 34649066 34649066 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:34649066G>C ENST00000374789.3 - 13 2154 c.1829C>G c.(1828-1830)tCa>tGa p.S610* PARD3_ENST00000374768.1_Nonsense_Mutation_p.S48*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.S597*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.S610*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.S610*|PARD3_ENST00000544292.1_Nonsense_Mutation_p.S327*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.S597*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.S610*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.S553*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.S553*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.S553*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.S597*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.S610* NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 610 PDZ 3. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) GTTCTCTTTTGACCGGTTACC 0.433000 37 107 0 0 0.819951 0 0 AP1M2 10053 broad.mit.edu 37 19 10689577 10689577 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:10689577G>A ENST00000590923.1 - 8 968 c.885C>T c.(883-885)atC>atT p.I295I AP1M2_ENST00000250244.6_Silent_p.I293I Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 293 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CCTTGACCATGATCTCCACGC 0.547000 6 15 0 0 0.248553 0 0 KXD1 79036 broad.mit.edu 37 19 18679247 18679247 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:18679247G>A ENST00000602094.1 + 5 1797 c.337G>A c.(337-339)Gaa>Aaa p.E113K KXD1_ENST00000599319.1_Missense_Mutation_p.E113K|KXD1_ENST00000222307.4_Missense_Mutation_p.E113K|KXD1_ENST00000595073.1_Missense_Mutation_p.E113K|KXD1_ENST00000601630.1_Missense_Mutation_p.E132K|KXD1_ENST00000540691.1_Missense_Mutation_p.E113K|KXD1_ENST00000539106.1_Missense_Mutation_p.E113K Q9BQD3 CS050_HUMAN KxDL motif containing 1 113 protein binding GGAAGAGGATGAAGACCCCAT 0.577000 106 424 0 0 0.870114 0 0 ITFG1 81533 broad.mit.edu 37 16 47488014 47488014 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:47488014G>A ENST00000320640.6 - 3 565 c.337C>T c.(337-339)Caa>Taa p.Q113* ITFG1_ENST00000544001.2_5'UTR NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 113 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) ACATCCATTTGAGAATCTCCA 0.363000 44 179 0 0 0.870114 0 0 DDN 23109 broad.mit.edu 37 12 49391866 49391866 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:49391866C>T ENST00000421952.2 - 2 814 c.793G>A c.(793-795)Gac>Aac p.D265N NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 265 dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 CGCCCTCCGTCTGTCCTGGCT 0.637000 32 97 0 0 0.847076 0 0 MUC17 140453 broad.mit.edu 37 7 100677779 100677779 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:100677779G>A ENST00000306151.4 + 3 3146 c.3082G>A c.(3082-3084)Gaa>Aaa p.E1028K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1028 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) TCCCACTGCTGAAGGTACCAG 0.517000 152 419 0 0 0.870114 0 0 SNX30 401548 broad.mit.edu 37 9 115567235 115567235 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:115567235G>A ENST00000374232.3 + 2 500 c.336G>A c.(334-336)agG>agA p.R112R NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 112 PX. cell communication|protein transport cytoplasm phosphatidylinositol binding large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TCACCTATAGGATCACCACCA 0.453000 4 234 0 0 0.150653 0 0 LRPPRC 10128 broad.mit.edu 37 2 44161341 44161341 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:44161341C>T ENST00000260665.7 - 25 2781 c.2724G>A c.(2722-2724)aaG>aaA p.K908K NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 908 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CAATGATCTTCTTGGCCTCTT 0.338000 12 62 0 0 0.411799 0 0 TATDN2 9797 broad.mit.edu 37 3 10291085 10291085 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:10291085G>A ENST00000287652.4 + 2 1252 c.201G>A c.(199-201)cgG>cgA p.R67R RP11-438J1.1_ENST00000450534.1_Silent_p.R10R|TATDN2_ENST00000448281.2_Silent_p.R67R NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 67 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 CTTGCTCGCGGAGGTTATCCT 0.652000 61 70 0 0 0.870114 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069472 6069472 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:6069472C>T ENST00000381095.3 - 2 663 c.36G>A c.(34-36)ttG>ttA p.L12L NLGN4X_ENST00000381092.1_Silent_p.L12L|NLGN4X_ENST00000381093.2_Silent_p.L12L|NLGN4X_ENST00000538097.1_Silent_p.L12L|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Silent_p.L12L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 12 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 GGGTGAACAACAAAGGAAGCC 0.522000 19 26 0 0 0.575678 0 0 SKA3 221150 broad.mit.edu 37 13 21729931 21729931 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:21729931G>C ENST00000314759.5 - 8 1263 c.1139C>G c.(1138-1140)tCa>tGa p.S380* SKA3_ENST00000400018.3_Intron NM_145061.5 NP_659498.4 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 380 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 AGCTAGGTTTGAGTTGTATTT 0.333000 29 118 0 0 0.706142 0 0 MFSD8 256471 broad.mit.edu 37 4 128863250 128863250 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:128863250G>C ENST00000296468.3 - 6 630 c.503C>G c.(502-504)tCc>tGc p.S168C MFSD8_ENST00000541133.1_Missense_Mutation_p.S123C|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.S123C NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 168 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 GTTTGCCATGGAACTTGTTCT 0.353000 35 189 0 0 0.847076 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142422 5142422 + RNA SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:5142422C>T ENST00000498233.1 - 0 976 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GATAACAGATCGCTACACAGC 0.463000 21 44 0 0 0.608945 0 0 PDXDC1 23042 broad.mit.edu 37 16 15100328 15100328 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:15100328C>T ENST00000396410.4 + 6 564 c.467C>T c.(466-468)tCt>tTt p.S156F PDXDC1_ENST00000447912.2_Missense_Mutation_p.S65F|PDXDC1_ENST00000569715.1_Missense_Mutation_p.S129F|PDXDC1_ENST00000563679.1_Missense_Mutation_p.S174F|PDXDC1_ENST00000325823.7_Missense_Mutation_p.S141F|PDXDC1_ENST00000535621.2_Missense_Mutation_p.S156F|PDXDC1_ENST00000455313.2_Missense_Mutation_p.S156F|PDXDC1_ENST00000450288.2_Missense_Mutation_p.S128F NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 156 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GCCATTCATTCTCGATATGAA 0.398000 46 293 0 0 0.870114 0 0 ATP13A4 84239 broad.mit.edu 37 3 193220359 193220359 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:193220359C>T ENST00000342695.4 - 3 626 c.304G>A c.(304-306)Ggt>Agt p.G102S ATP13A4_ENST00000295548.3_Missense_Mutation_p.G102S|ATP13A4_ENST00000392443.3_Missense_Mutation_p.G102S NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 102 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GGAGTGAGACCAAATGCGCTG 0.408000 139 88 0 0 0.870114 0 0 PDE6C 5146 broad.mit.edu 37 10 95372755 95372755 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:95372755C>G ENST00000371447.3 + 1 411 c.273C>G c.(271-273)ctC>ctG p.L91L NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 91 GAF 1. 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) CCCACCTGCTCCAGGCTGACC 0.657000 21 32 0 0 0.693898 0 0 COL1A2 1278 broad.mit.edu 37 7 94049587 94049587 + Missense_Mutation SNP C C T rs139199272 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:94049587C>T ENST00000297268.6 + 35 2593 c.2122C>T c.(2122-2124)Cgg>Tgg p.R708W NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 708 Missing (in OI2A).|R -> Q (in Marfan syndrome). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) tgctggtcctCGGGGAAGCCC 0.448000 HNSCC(75;0.22) 45 126 0 0 0.859065 0 0 MYH9 4627 broad.mit.edu 37 22 36708220 36708220 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:36708220G>A ENST00000216181.5 - 14 1832 c.1602C>T c.(1600-1602)ttC>ttT p.F534F NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 534 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TGGCTTTGGGGAACCAGCACT 0.632000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 36 111 0 0 0.788014 0 0 ZNF250 58500 broad.mit.edu 37 8 146108151 146108151 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:146108151C>T ENST00000292579.7 - 6 548 c.432G>A c.(430-432)gtG>gtA p.V144V ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Silent_p.V139V NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TCCCCAGAATCACTGTTTGCT 0.398000 7 417 0 0 0.248553 0 0 PPP1R21 129285 broad.mit.edu 37 2 48698496 48698496 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:48698496C>T ENST00000294952.8 + 11 1235 c.1078C>T c.(1078-1080)Cag>Tag p.Q360* PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.Q360*|PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.Q360* NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 360 endometrium(2)|kidney(4)|lung(9) 15 TCTTCCCTATCAGTTAAAAAG 0.388000 32 113 0 0 0.729181 0 0 CCDC106 29903 broad.mit.edu 37 19 56162717 56162717 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:56162717G>A ENST00000586790.1 + 4 1286 c.382G>A c.(382-384)Gag>Aag p.E128K CCDC106_ENST00000591578.1_Missense_Mutation_p.E128K|CCDC106_ENST00000588740.1_Missense_Mutation_p.E128K|CCDC106_ENST00000591241.1_Missense_Mutation_p.E93K|CCDC106_ENST00000308964.3_Missense_Mutation_p.E128K Q9BWC9 CC106_HUMAN coiled-coil domain containing 106 128 nucleus endometrium(2)|large_intestine(3)|lung(5)|skin(1) 11 Colorectal(82;0.00403)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GGCTGGGGGCGAGGCCTCGGA 0.667000 18 30 0 0 0.557998 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12884942 12884942 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:12884942C>G ENST00000535591.1 - 4 1364 c.1169G>C c.(1168-1170)aGa>aCa p.R390T NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 390 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TTGAGCAAATCTGCTCCAGCA 0.498000 106 306 0 0 0.870114 0 0 MYH2 4620 broad.mit.edu 37 17 10441071 10441071 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:10441071C>G ENST00000245503.5 - 15 1882 c.1498G>C c.(1498-1500)Gag>Cag p.E500Q CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E500Q|MYH2_ENST00000532183.1_Missense_Mutation_p.E500Q NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 500 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCCTCCTGCTCCAGCACGAAC 0.483000 82 196 0 0 0.870114 0 0 ERAP2 64167 broad.mit.edu 37 5 96219594 96219594 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:96219594G>A ENST00000437043.3 + 3 1385 c.674G>A c.(673-675)cGa>cAa p.R225Q ERAP2_ENST00000510309.1_Missense_Mutation_p.R225Q|ERAP2_ENST00000379904.4_Missense_Mutation_p.R225Q|CTD-2260A17.2_ENST00000501338.1_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 225 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) ATCAAGATACGAAGAGAGAGC 0.418000 20 84 0 0 0.575678 0 0 ADCK3 56997 broad.mit.edu 37 1 227171832 227171832 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:227171832G>C ENST00000366779.1 + 16 4065 c.1294G>C c.(1294-1296)Gag>Cag p.E432Q ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366775.1_Missense_Mutation_p.E277Q|ADCK3_ENST00000433743.2_Missense_Mutation_p.E106Q|ADCK3_ENST00000366778.1_Missense_Mutation_p.E380Q|ADCK3_ENST00000366776.1_Missense_Mutation_p.E357Q|ADCK3_ENST00000458507.2_Missense_Mutation_p.E153Q|ADCK3_ENST00000366777.3_Missense_Mutation_p.E432Q Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 432 Protein kinase. cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CTATGTGCCTGAGATTGTGGA 0.642000 4 41 0 0 0.150653 0 0 SENP5 205564 broad.mit.edu 37 3 196656542 196656542 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:196656542C>G ENST00000323460.5 + 9 2394 c.2145C>G c.(2143-2145)gtC>gtG p.V715V SENP5_ENST00000445299.2_Silent_p.V669V|SENP5_ENST00000419026.1_Silent_p.V205V NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 715 Protease. cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) ACTGTGGAGTCTTTGTGCTCC 0.393000 42 116 0 0 0.870114 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111102 7111102 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:7111102G>A ENST00000306904.5 + 1 938 c.751G>A c.(751-753)Gac>Aac p.D251N NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 251 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGTCCGGGACGACTGTCCCTT 0.642000 13 28 0 0 0.500413 0 0 APC 324 broad.mit.edu 37 5 112179224 112179224 + Missense_Mutation SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:112179224T>C ENST00000457016.1 + 16 8313 c.7933T>C c.(7933-7935)Tat>Cat p.Y2645H APC_ENST00000257430.4_Missense_Mutation_p.Y2645H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Y2645H P25054 APC_HUMAN adenomatous polyposis coli 2645 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GACTCTAATTTATCAAATGGC 0.388000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 92 165 0 0 0.870114 0 0 STYK1 55359 broad.mit.edu 37 12 10783759 10783759 + Silent SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:10783759T>C ENST00000075503.3 - 5 856 c.336A>G c.(334-336)caA>caG p.Q112Q NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 112 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CTTCAGAGAGTTGCTCCCGCG 0.527000 HNSCC(73;0.22) 31 96 0 0 0.779181 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52981631 52981631 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:52981631C>G ENST00000371544.3 - 3 1076 c.814G>C c.(814-816)Gag>Cag p.E272Q ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E272Q|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.E272Q NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 272 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AGCCTCTGCTCAGGTGTCAAT 0.368000 40 159 0 0 0.827153 0 0 RPS3 6188 broad.mit.edu 37 11 75111786 75111786 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:75111786C>T ENST00000531188.1 + 2 141 c.79C>T c.(79-81)Cgg>Tgg p.R27W RPS3_ENST00000278572.6_Missense_Mutation_p.R27W|RPS3_ENST00000534440.1_Missense_Mutation_p.R27W|RPS3_ENST00000524851.1_Missense_Mutation_p.R27W|RPS3_ENST00000527446.1_Missense_Mutation_p.R27W|RPS3_ENST00000530164.1_Missense_Mutation_p.R27W|RPS3_ENST00000526608.1_Missense_Mutation_p.R27W|RPS3_ENST00000529285.1_3'UTR NM_001005.4|NM_001260506.1|NM_001260507.1 NP_000996.2|NP_001247435.1|NP_001247436.1 P23396 RS3_HUMAN ribosomal protein S3 27 KH type-2. activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus|ruffle membrane damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 GTTTCTTACTCGGGAGCTGGC 0.438000 5 195 0 0 0.184627 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959018 10959018 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:10959018G>T ENST00000240615.2 - 1 874 c.562C>A c.(562-564)Ctg>Atg p.L188M NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 188 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ATTGCAAACAGGTTAAAGAGA 0.333000 22 87 1.28384e-07 1.32692e-07 0.608945 1 0 LMNB2 84823 broad.mit.edu 37 19 2438470 2438470 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:2438470G>A ENST00000325327.3 - 3 523 c.461C>T c.(460-462)tCc>tTc p.S154F LMNB2_ENST00000582871.1_Missense_Mutation_p.S134F Q03252 LMNB2_HUMAN lamin B2 134 Coil 1B.|Rod. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) GTGGAACAGGGACTCCAGGTC 0.662000 13 26 0 0 0.411799 0 0 TRIM24 8805 broad.mit.edu 37 7 138235861 138235861 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:138235861G>A ENST00000343526.4 + 8 1412 c.1197G>A c.(1195-1197)gtG>gtA p.V399V TRIM24_ENST00000415680.2_Silent_p.V399V|TRIM24_ENST00000497516.1_3'UTR O15164 TIF1A_HUMAN tripartite motif containing 24 399 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 CATCCCCAGTGACCAACAACA 0.403000 42 154 0 0 0.840704 0 0 YIPF5 81555 broad.mit.edu 37 5 143544999 143544999 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:143544999C>T ENST00000274496.5 - 3 414 c.280G>A c.(280-282)Gaa>Aaa p.E94K YIPF5_ENST00000448443.2_Missense_Mutation_p.E94K|YIPF5_ENST00000513112.1_Missense_Mutation_p.E40K NM_001271732.1|NM_030799.7 NP_001258661.1|NP_110426.4 Q969M3 YIPF5_HUMAN Yip1 domain family, member 5 94 Interaction with Sec23. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane large_intestine(2)|lung(5)|ovary(1)|skin(1) 9 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) ATCTTACCTTCTAATAAAGGT 0.378000 18 105 0 0 0.539581 0 0 CENPE 1062 broad.mit.edu 37 4 104054926 104054926 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:104054926G>A ENST00000265148.3 - 41 6735 c.6646C>T c.(6646-6648)Caa>Taa p.Q2216* CENPE_ENST00000380026.3_Nonsense_Mutation_p.Q2095* NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2216 Kinetochore-binding domain. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CAATCTTGTTGAAGGTGCTGT 0.289000 13 32 0 0 0.411799 0 0 TNIP1 10318 broad.mit.edu 37 5 150415257 150415257 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:150415257G>A ENST00000389378.2 - 14 1995 c.1407C>T c.(1405-1407)ttC>ttT p.F469F TNIP1_ENST00000518977.1_Silent_p.F469F|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000520931.1_Silent_p.F416F|TNIP1_ENST00000523200.1_Silent_p.F469F|TNIP1_ENST00000524280.1_Silent_p.F469F|TNIP1_ENST00000521591.1_Silent_p.F469F|TNIP1_ENST00000522226.1_Silent_p.F469F|TNIP1_ENST00000315050.7_Silent_p.F469F|TNIP1_ENST00000523338.1_Silent_p.F469F NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 469 defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTCCTCCTCGAAGATCTTCA 0.597000 4 132 0 0 0.150653 0 0 USP49 25862 broad.mit.edu 37 6 41767599 41767599 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:41767599G>A ENST00000394253.3 - 5 1968 c.1639C>T c.(1639-1641)Cag>Tag p.Q547* USP49_ENST00000373006.1_Nonsense_Mutation_p.Q547*|USP49_ENST00000373010.1_Nonsense_Mutation_p.Q547*|USP49_ENST00000373009.3_Nonsense_Mutation_p.Q547*|USP49_ENST00000297229.2_Nonsense_Mutation_p.Q547* Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 547 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CGGAGAACCTGAGGTAGTCTG 0.488000 6 425 0 0 0.248553 0 0 SHOX2 6474 broad.mit.edu 37 3 157820574 157820574 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:157820574C>T ENST00000490689.2 - 2 1594 c.61G>A c.(61-63)Gaa>Aaa p.E21K SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.E150K|SHOX2_ENST00000441443.2_Missense_Mutation_p.E21K|SHOX2_ENST00000425436.3_Missense_Mutation_p.E150K|SHOX2_ENST00000389589.4_Missense_Mutation_p.E174K O60902 SHOX2_HUMAN short stature homeobox 2 150 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E21*(1)|p.E174*(1) NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTGAGTTGTTCCAGGGTGAAA 0.572000 40 236 0 0 0.827153 0 0 EPPK1 83481 broad.mit.edu 37 8 144940991 144940991 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:144940991C>T ENST00000525985.1 - 2 6502 c.6431G>A c.(6430-6432)aGa>aAa p.R2144K P58107 EPIPL_HUMAN epiplakin 1 2144 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTGTGTGTTCTATACATCCT 0.507000 74 387 0 0 0.870114 0 0 RPE65 6121 broad.mit.edu 37 1 68897200 68897200 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:68897200C>T ENST00000262340.5 - 11 1250 c.1197G>A c.(1195-1197)gaG>gaA p.E399E NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 399 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 GCCAGATAGTCTCGTCACTGC 0.463000 25 42 0 0 0.717897 0 0 ECT2 1894 broad.mit.edu 37 3 172486838 172486838 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:172486838C>G ENST00000417960.1 + 13 1714 c.1237C>G c.(1237-1239)Cca>Gca p.P413A ECT2_ENST00000392692.3_Missense_Mutation_p.P445A|ECT2_ENST00000540509.1_Missense_Mutation_p.P445A|ECT2_ENST00000441497.2_Missense_Mutation_p.P414A|ECT2_ENST00000427830.1_Missense_Mutation_p.P414A|ECT2_ENST00000232458.5_Missense_Mutation_p.P414A NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 414 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) AAGCTCCACTCCAGTTCCTTC 0.348000 4 233 0 0 0.184627 0 0 DDX11 1663 broad.mit.edu 37 12 31237969 31237969 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:31237969G>A ENST00000251758.5 + 5 798 c.547G>A c.(547-549)Gag>Aag p.E183K DDX11_ENST00000407793.2_Missense_Mutation_p.E183K|DDX11_ENST00000350437.4_Missense_Mutation_p.E183K|DDX11_ENST00000228264.6_Missense_Mutation_p.E157K|DDX11_ENST00000545668.1_Missense_Mutation_p.E183K|DDX11_ENST00000542838.1_Missense_Mutation_p.E183K Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 183 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GACAGGCCCGGAGGCTGAGCG 0.597000 Multiple Myeloma(12;0.14) 7 18 0 0 0.307466 0 0 RP1L1 94137 broad.mit.edu 37 8 10468185 10468185 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:10468185G>C ENST00000382483.3 - 4 3646 c.3423C>G c.(3421-3423)ttC>ttG p.F1141L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1141 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) GGGAGTCTTTGAACCTCACTT 0.592000 20 85 0 0 0.592651 0 0 ALDH7A1 501 broad.mit.edu 37 5 125928409 125928409 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:125928409C>G ENST00000409134.3 - 3 478 c.259G>C c.(259-261)Gac>Cac p.D87H ALDH7A1_ENST00000447989.2_Missense_Mutation_p.D114H|ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.D87H NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 87 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) TCTTCATAGTCTGCCACACTG 0.368000 10 41 0 0 0.361761 0 0 GLB1L3 112937 broad.mit.edu 37 11 134182365 134182365 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:134182365C>T ENST00000431683.2 + 14 1410 c.1410C>T c.(1408-1410)caC>caT p.H470H NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 470 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) TCCGTGCCCACGCTCATGACG 0.587000 18 56 0 0 0.520397 0 0 SMAD4 4089 broad.mit.edu 37 18 48575103 48575103 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:48575103G>C ENST00000342988.3 + 3 835 c.297G>C c.(295-297)tgG>tgC p.W99C RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.W99C|SMAD4_ENST00000452201.2_Missense_Mutation_p.W99C|SMAD4_ENST00000588745.1_Missense_Mutation_p.W99C NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 99 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(4) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CCCGTCTCTGGAGGTGGCCTG 0.378000 37 59 0 0 0.840704 0 0 MPP6 51678 broad.mit.edu 37 7 24703280 24703280 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:24703280G>A ENST00000396475.2 + 7 1022 c.723G>A c.(721-723)ttG>ttA p.L241L MPP6_ENST00000222644.4_Silent_p.L241L|MPP6_ENST00000409761.1_Silent_p.L129L NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 241 SH3. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 AAGCAGGATTGAAGTTTTCCA 0.338000 41 114 0 0 0.840704 0 0 DNAH3 55567 broad.mit.edu 37 16 20975168 20975168 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:20975168G>C ENST00000261383.3 - 53 10037 c.10038C>G c.(10036-10038)atC>atG p.I3346M DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3346 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) TGATGTACTTGATGCGCAGAT 0.483000 40 135 0 0 0.834066 0 0 ACACA 31 broad.mit.edu 37 17 35600327 35600327 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:35600327C>T ENST00000353139.5 - 22 3372 c.2891G>A c.(2890-2892)aGc>aAc p.S964N ACACA_ENST00000360679.3_Missense_Mutation_p.S869N|ACACA_ENST00000394406.2_Missense_Mutation_p.S927N|ACACA_ENST00000335166.5_Missense_Mutation_p.S849N NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 927 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGTGATGTTGCTAGCATACTG 0.438000 88 188 0 0 0.870114 0 0 TBX5 6910 broad.mit.edu 37 12 114837439 114837439 + Splice_Site SNP T T G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:114837439T>G ENST00000310346.4 - 4 909 c.e4-2 TBX5_ENST00000552726.1_Splice_Site|TBX5_ENST00000349716.5_Splice_Site|TBX5_ENST00000405440.2_Splice_Site|TBX5_ENST00000526441.1_Splice_Site NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) AACATCCGCCTAAGAGAGAGG 0.478000 45 125 0 0 0.847076 0 0 CYLD 1540 broad.mit.edu 37 16 50783939 50783939 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:50783939C>A ENST00000540145.1 + 4 745 c.330C>A c.(328-330)ttC>ttA p.F110L CYLD_ENST00000398568.2_Missense_Mutation_p.F110L|CYLD_ENST00000427738.3_Missense_Mutation_p.F110L|CYLD_ENST00000311559.9_Missense_Mutation_p.F110L|CYLD_ENST00000569418.1_Missense_Mutation_p.F110L|CYLD_ENST00000568704.2_Missense_Mutation_p.F110L|CYLD_ENST00000564326.1_Missense_Mutation_p.F110L|CYLD_ENST00000566206.1_Missense_Mutation_p.F110L Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 110 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) AGGAGAGGTTCAGCCTGTTTA 0.398000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 34 95 5.90632e-09 6.14058e-09 0.760397 1 0 CDHR3 222256 broad.mit.edu 37 7 105624678 105624678 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:105624678C>T ENST00000542731.1 + 4 564 c.456C>T c.(454-456)ttC>ttT p.F152F CDHR3_ENST00000317716.9_Silent_p.F152F|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000478080.1_Silent_p.F64F|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000541203.1_Intron Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 152 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 ACCCTGGATTCATTTACCAGG 0.438000 8 45 0 0 0.307466 0 0 ROCK1 6093 broad.mit.edu 37 18 18629114 18629114 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:18629114G>A ENST00000399799.1 - 4 1293 c.353C>T c.(352-354)tCt>tTt p.S118F NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 118 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) GAAAAAAGCAGAATCAGATCT 0.368000 29 186 0 0 0.693898 0 0 PRKACG 5568 broad.mit.edu 37 9 71628520 71628520 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:71628520G>A ENST00000377276.2 - 1 519 c.489C>T c.(487-489)ctC>ctT p.L163L NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 163 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 CGCGGTGGATGAGGTCGAGCG 0.627000 8 23 0 0 0.278610 0 0 PDE8B 8622 broad.mit.edu 37 5 76700610 76700610 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:76700610C>T ENST00000264917.5 + 12 1321 c.1276C>T c.(1276-1278)Cga>Tga p.R426* PDE8B_ENST00000346042.3_Nonsense_Mutation_p.R329*|PDE8B_ENST00000333194.4_Nonsense_Mutation_p.R426*|PDE8B_ENST00000340978.3_Nonsense_Mutation_p.R379*|PDE8B_ENST00000342343.4_Nonsense_Mutation_p.R406* NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 426 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GATATCATCTCGAGGCAGTGA 0.353000 18 76 0 0 0.557998 0 0 MAP3K5 4217 broad.mit.edu 37 6 136960771 136960771 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:136960771G>C ENST00000359015.4 - 13 2204 c.1844C>G c.(1843-1845)tCt>tGt p.S615C RP3-325F22.3_ENST00000432477.1_RNA|MAP3K5_ENST00000355845.4_5'UTR NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 615 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TTCAAATTTAGAAATACTGAA 0.289000 13 37 0 0 0.457914 0 0 GBX1 2636 broad.mit.edu 37 7 150845891 150845891 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:150845891G>C ENST00000297537.4 - 2 876 c.877C>G c.(877-879)Cag>Gag p.Q293E NM_001098834.1 NP_001092304.1 Q14549 GBX1_HUMAN gastrulation brain homeobox 1 293 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGGCGATCTGAGAGCGCTCT 0.532000 38 91 0 0 0.812448 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855732 12855732 + Missense_Mutation SNP G G A rs139798913 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:12855732G>A ENST00000332296.7 + 4 1115 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K PRAMEF1_ENST00000400814.3_Missense_Mutation_p.E93K NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 338 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CATCAGTCTTGAACCCCTCGG 0.522000 81 267 0 0 0.870114 0 0 FCHSD2 9873 broad.mit.edu 37 11 72712082 72712082 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:72712082C>G ENST00000409314.1 - 5 508 c.340G>C c.(340-342)Gag>Cag p.E114Q FCHSD2_ENST00000409418.4_Missense_Mutation_p.E114Q|FCHSD2_ENST00000311172.7_Missense_Mutation_p.E58Q|FCHSD2_ENST00000409853.1_Missense_Mutation_p.E58Q|FCHSD2_ENST00000458644.2_Intron O94868 FCSD2_HUMAN FCH and double SH3 domains 2 114 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) CTTGCAGGCTCAGAAATGAAG 0.368000 6 21 0 0 0.217242 0 0 BICD2 23299 broad.mit.edu 37 9 95482755 95482755 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:95482755C>T ENST00000356884.6 - 4 956 c.889G>A c.(889-891)Gag>Aag p.E297K BICD2_ENST00000375512.3_Missense_Mutation_p.E297K NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 297 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 ACCAGGGCCTCGGCATCGTTG 0.612000 44 89 0 0 0.847076 0 0 DTWD2 285605 broad.mit.edu 37 5 118176651 118176651 + Silent SNP G G C rs138333410 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:118176651G>C ENST00000304058.4 - 6 730 c.660C>G c.(658-660)ctC>ctG p.L220L DTWD2_ENST00000515439.3_Silent_p.L190L|DTWD2_ENST00000510708.1_Silent_p.L286L Q8NBA8 DTWD2_HUMAN DTW domain containing 2 286 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4) 13 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) CCATTTTCCTGAGTTTGCGTT 0.348000 8 65 0 0 0.335167 0 0 VCPIP1 80124 broad.mit.edu 37 8 67547415 67547415 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:67547415G>C ENST00000310421.4 - 3 3248 c.2990C>G c.(2989-2991)tCa>tGa p.S997* NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 997 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TGAGGGACTTGATTCCCTACT 0.438000 76 280 0 0 0.870114 0 0 PHACTR4 65979 broad.mit.edu 37 1 28806962 28806962 + Splice_Site SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:28806962G>A ENST00000373839.3 + 9 1867 c.e9-1 PHACTR4_ENST00000373836.3_Splice_Site|PHACTR4_ENST00000493669.1_Splice_Site NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) CGTGTGCAAAGGTGCTCTCGC 0.428000 20 88 0 0 0.557998 0 0 LGALS9C 654346 broad.mit.edu 37 17 18396112 18396112 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:18396112G>T ENST00000328114.6 + 10 944 c.863G>T c.(862-864)tGg>tTg p.W288L LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.W255L|LGALS9C_ENST00000412421.2_Missense_Mutation_p.W200L NM_001040078.2 NP_001035167.2 Q6DKI2 LEG9C_HUMAN lectin, galactoside-binding, soluble, 9C 288 Beta-galactoside binding 2 (By similarity).|Galectin 2. sugar binding NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 7 AACAACTCTTGGGGGTCTGAG 0.572000 3 63 0.00010058 0.00010309 0.411799 1 0 PTGER4 5734 broad.mit.edu 37 5 40681095 40681095 + Translation_Start_Site SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:40681095C>A ENST00000302472.3 + 0 1024 PTGER4_ENST00000514343.1_3'UTR NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 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 CAGCCACTATCATGTCCACTC 0.602000 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 111 6.3237e-29 6.80419e-29 0.870114 1 0 FLG 2312 broad.mit.edu 37 1 152281579 152281579 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:152281579G>A ENST00000368799.1 - 3 5818 c.5783C>T c.(5782-5784)tCa>tTa p.S1928L FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1928 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGAGTCTTCTGAGTGTCCCTG 0.567000 Ichthyosis 197 355 0 0 0.870114 0 0 WDR81 124997 broad.mit.edu 37 17 1635682 1635682 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:1635682C>T ENST00000409644.1 + 5 4221 c.4221C>T c.(4219-4221)ctC>ctT p.L1407L WDR81_ENST00000437219.2_Silent_p.L204L|WDR81_ENST00000419248.1_Silent_p.L180L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Silent_p.L46L|WDR81_ENST00000309182.5_Silent_p.L356L|WDR81_ENST00000545662.1_Silent_p.L38L NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 180 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCATCGCCCTCATCTGCCTGC 0.597000 52 113 0 0 0.870114 0 0 DUOX1 53905 broad.mit.edu 37 15 45426095 45426095 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:45426095G>A ENST00000321429.4 + 4 499 c.92G>A c.(91-93)cGa>cAa p.R31Q DUOX1_ENST00000389037.3_Missense_Mutation_p.R31Q NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 31 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GAGGTGCAGCGATTTGATGGG 0.592000 38 115 0 0 0.840704 0 0 CACNA1D 776 broad.mit.edu 37 3 53757550 53757550 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:53757550C>G ENST00000288139.3 + 14 1934 c.1816C>G c.(1816-1818)Ctt>Gtt p.L606V CACNA1D_ENST00000350061.5_Missense_Mutation_p.L586V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L586V NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 586 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTTCGTCTCTCTTTTCAACCG 0.478000 12 273 0 0 0.387290 0 0 LRRC66 339977 broad.mit.edu 37 4 52860790 52860790 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:52860790C>T ENST00000343457.3 - 4 2404 c.2398G>A c.(2398-2400)Gag>Aag p.E800K NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 800 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GACAGGCCCTCAGATCTATCA 0.473000 18 49 0 0 0.520397 0 0 ZNF534 147658 broad.mit.edu 37 19 52941053 52941053 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:52941053C>T ENST00000332323.6 + 4 440 c.379C>T c.(379-381)Cag>Tag p.Q127* ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Nonsense_Mutation_p.Q114* NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 ATTAACTCTTCAGTTACATCT 0.348000 19 43 0 0 0.557998 0 0 KLC1 3831 broad.mit.edu 37 14 104129088 104129088 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:104129088C>T ENST00000389744.4 + 5 890 c.621C>T c.(619-621)taC>taT p.Y207Y KLC1_ENST00000452929.2_Silent_p.Y207Y|KLC1_ENST00000445352.4_Silent_p.Y207Y|KLC1_ENST00000380038.3_Silent_p.Y207Y|KLC1_ENST00000246489.7_Silent_p.Y207Y|RP11-73M18.2_ENST00000472726.2_Silent_p.Y379Y|KLC1_ENST00000334553.6_Silent_p.Y207Y|KLC1_ENST00000347839.6_Silent_p.Y207Y|KLC1_ENST00000553286.1_Silent_p.Y207Y|KLC1_ENST00000554280.1_Silent_p.Y207Y|KLC1_ENST00000557450.1_Silent_p.Y207Y|KLC1_ENST00000557575.1_Silent_p.Y207Y|KLC1_ENST00000555836.1_Silent_p.Y207Y|KLC1_ENST00000348520.6_Silent_p.Y207Y Q07866 KLC1_HUMAN kinesin light chain 1 207 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) AGGGCGGCTACGAGATCCCCG 0.622000 4 123 0 0 0.150653 0 0 B4GALT5 9334 broad.mit.edu 37 20 48330154 48330154 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:48330154G>A ENST00000371711.4 - 1 261 c.74C>T c.(73-75)tCg>tTg p.S25L NM_004776.3 NP_004767.1 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 25 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) CAGCGAGGACGAGAGAGAAAA 0.706000 3 5 0 0 0.115264 0 0 INPP5D 3635 broad.mit.edu 37 2 234094512 234094512 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:234094512G>C ENST00000359570.5 + 23 2263 c.2263G>C c.(2263-2265)Gaa>Caa p.E755Q INPP5D_ENST00000455936.2_Missense_Mutation_p.E519Q|INPP5D_ENST00000450745.1_Missense_Mutation_p.E519Q Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 767 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TCAGGAAGGAGAAAATGAAGA 0.478000 9 25 0 0 0.387290 0 0 MCAM 4162 broad.mit.edu 37 11 119185721 119185721 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:119185721G>A ENST00000264036.4 - 3 236 c.222C>T c.(220-222)ttC>ttT p.F74F MCAM_ENST00000530144.2_5'UTR NM_006500.2 NP_006491.2 P43121 MUC18_HUMAN melanoma cell adhesion molecule 74 Ig-like V-type 1. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) GGCGCACACGGAAGATGAGCG 0.647000 56 156 0 0 0.870114 0 0 PLXNA2 5362 broad.mit.edu 37 1 208218433 208218433 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:208218433G>A ENST00000367033.3 - 19 4375 c.3618C>T c.(3616-3618)ctC>ctT p.L1206L NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1206 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GCTGCCCGGTGAGGTTGGGAG 0.577000 5 104 0 0 0.217242 0 0 COL3A1 1281 broad.mit.edu 37 2 189864098 189864098 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:189864098G>A ENST00000304636.3 + 30 2280 c.2110G>A c.(2110-2112)Gaa>Aaa p.E704K COL3A1_ENST00000317840.5_Missense_Mutation_p.E704K NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 704 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCCTGGTCCCGAAGGAGGAAA 0.483000 10 35 0 0 0.361761 0 0 MPRIP 23164 broad.mit.edu 37 17 17062051 17062051 + Missense_Mutation SNP A A T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:17062051A>T ENST00000395811.5 + 14 1870 c.1781A>T c.(1780-1782)aAg>aTg p.K594M MPRIP_ENST00000444976.1_Missense_Mutation_p.K556M|MPRIP_ENST00000395804.3_Missense_Mutation_p.K594M|MPRIP_ENST00000341712.4_Missense_Mutation_p.K594M NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 594 Interaction with RHOA. cytoplasm|cytoskeleton actin binding p.R587_G597delRRREERRKRFG(1) biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 GAGCGCCGCAAGCGCTTCGGG 0.731000 18 41 0 0 0.557998 0 0 KIAA1217 56243 broad.mit.edu 37 10 24835129 24835129 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:24835129C>T ENST00000376454.3 + 21 5738 c.5708C>T c.(5707-5709)tCc>tTc p.S1903F KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1309F|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1224F|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1334F NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 1903 Ser-rich. embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 cctgcctcctccgtctcACTG 0.542000 30 49 0 0 0.706142 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52724383 52724383 + Silent SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:52724383C>A ENST00000322088.6 + 12 1573 c.1515C>A c.(1513-1515)atC>atA p.I505I PPP2R1A_ENST00000444322.2_Silent_p.I450I|PPP2R1A_ENST00000462990.1_Silent_p.I326I NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 505 PP2A subunit C binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TCTTCTGCATCAATGTGAGCC 0.597000 Mis clear cell ovarian carcinoma 38 129 4.32679e-17 4.59139e-17 0.827153 1 0 PHACTR4 65979 broad.mit.edu 37 1 28807096 28807096 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:28807096G>C ENST00000373839.3 + 9 2001 c.1740G>C c.(1738-1740)caG>caC p.Q580H PHACTR4_ENST00000373836.3_Missense_Mutation_p.Q590H|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 580 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TACGGCACCAGATTGGAAACA 0.418000 47 211 0 0 0.870114 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28338537 28338537 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:28338537G>A ENST00000284987.5 - 1 295 c.174C>T c.(172-174)ccC>ccT p.P58P NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 58 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GCGGGTGGCCGGGAGGCTCGG 0.726000 6 39 0 0 0.248553 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745719 135745719 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:135745719G>C ENST00000375845.3 - 7 753 c.723C>G c.(721-723)ctC>ctG p.L241L MAP3K19_ENST00000392915.1_Silent_p.L258L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.L128L|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CAAAAGATGTGAGACTTGGAA 0.473000 34 168 0 0 0.760397 0 0 STK36 27148 broad.mit.edu 37 2 219538430 219538430 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:219538430G>A ENST00000295709.3 + 3 446 c.167G>A c.(166-168)cGg>cAg p.R56Q STK36_ENST00000440309.1_Missense_Mutation_p.R56Q|STK36_ENST00000392105.3_Missense_Mutation_p.R56Q|STK36_ENST00000392106.2_Missense_Mutation_p.R56Q NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 56 Protein kinase. cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GAAATAATGCGGGGTCTGCGG 0.498000 14 61 0 0 0.435327 0 0 AADACL4 343066 broad.mit.edu 37 1 12726745 12726745 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:12726745G>A ENST00000376221.1 + 4 1223 c.1223G>A c.(1222-1224)tGa>tAa p.*408* NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 0 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) AAGGGCATATGATAGTAACCC 0.438000 39 128 0 0 0.834066 0 0 MROH7 374977 broad.mit.edu 37 1 55130890 55130890 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:55130890G>C ENST00000414150.2 + 4 1560 c.1282G>C c.(1282-1284)Gaa>Caa p.E428Q MROH7_ENST00000421030.2_Missense_Mutation_p.E428Q|MROH7_ENST00000395690.2_Missense_Mutation_p.E428Q|MROH7_ENST00000409996.1_5'UTR|MROH7_ENST00000545244.1_5'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.E428Q|MROH7_ENST00000454855.2_5'UTR maestro heat-like repeat family member 7 AGAGAAGACAGAAGGTGGCAA 0.552000 9 82 0 0 0.435327 0 0 COL1A1 1277 broad.mit.edu 37 17 48267430 48267430 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:48267430C>T ENST00000225964.5 - 36 2609 c.2491G>A c.(2491-2493)Gat>Aat p.D831N NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 831 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCACCAGCATCACCAGGTTCG 0.662000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 33 100 0 0 0.796494 0 0 OR6C3 254786 broad.mit.edu 37 12 55726127 55726127 + Missense_Mutation SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:55726127T>C ENST00000379667.1 + 1 643 c.643T>C c.(643-645)Tac>Cac p.Y215H NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 GATTTTATCTTACATGTACAT 0.363000 76 193 0 0 0.870114 0 0 HMGA1 3159 broad.mit.edu 37 6 34208574 34208574 + Nonsense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:34208574C>A ENST00000447654.1 + 2 506 c.17C>A c.(16-18)tCg>tAg p.S6* HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000374116.3_Nonsense_Mutation_p.S6*|HMGA1_ENST00000347617.6_Nonsense_Mutation_p.S6*|HMGA1_ENST00000395004.3_Nonsense_Mutation_p.S6*|HMGA1_ENST00000311487.5_Nonsense_Mutation_p.S6*|HMGA1_ENST00000401473.3_Nonsense_Mutation_p.S6* NM_145901.2|NM_145902.2 NP_665908.1|NP_665909.1 P17096 HMGA1_HUMAN high mobility group AT-hook 1 6 DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration chromatin|cytosol|transcription factor complex AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity lung(1) 1 GAGTCGAGCTCGAAGTCCAGC 0.592000 T ? """microfollicular thyroid adenoma, various benign mesenchymal tumors,""" 3 69 0.115264 0.116589 0.115264 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140720878 140720878 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:140720878C>T ENST00000394576.2 + 1 2340 c.2340C>T c.(2338-2340)atC>atT p.I780I PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACGCTCATCAGCCAGGAGA 0.498000 47 133 0 0 0.870114 0 0 RASGRP3 25780 broad.mit.edu 37 2 33752314 33752314 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:33752314G>A ENST00000403687.3 + 10 1658 c.918G>A c.(916-918)ttG>ttA p.L306L RASGRP3_ENST00000402538.3_Silent_p.L306L|RASGRP3_ENST00000407811.1_Silent_p.L306L NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 306 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) GAGTACACTTGAAAGACTTGA 0.473000 10 58 0 0 0.335167 0 0 ZNF83 55769 broad.mit.edu 37 19 53117232 53117232 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:53117232G>A ENST00000597597.1 - 2 2839 c.586C>T c.(586-588)Caa>Taa p.Q196* ZNF83_ENST00000541777.2_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000301096.3_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000391789.4_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000544146.1_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000536937.1_Nonsense_Mutation_p.Q196* P51522 ZNF83_HUMAN zinc finger protein 83 196 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TGAATTCTTTGATGTTGTGCA 0.383000 42 141 0 0 0.819951 0 0 MUC17 140453 broad.mit.edu 37 7 100683466 100683466 + Silent SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:100683466T>C ENST00000306151.4 + 3 8833 c.8769T>C c.(8767-8769)ccT>ccC p.P2923P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2923 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) TCTCAACTCCTAGTGAAGTAA 0.483000 154 355 0 0 0.870114 0 0 MYO9A 4649 broad.mit.edu 37 15 72170385 72170385 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:72170385G>A ENST00000356056.5 - 31 6399 c.5927C>T c.(5926-5928)aCa>aTa p.T1976I MYO9A_ENST00000424560.1_Missense_Mutation_p.T2047I|MYO9A_ENST00000444904.1_Missense_Mutation_p.T1957I|MYO9A_ENST00000564571.1_Missense_Mutation_p.T1976I NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1976 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ATTTACCTTTGTGGCTGTGCA 0.308000 24 67 0 0 0.729181 0 0 FNDC1 84624 broad.mit.edu 37 6 159654085 159654085 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:159654085C>T ENST00000297267.9 + 11 2741 c.2541C>T c.(2539-2541)agC>agT p.S847S FNDC1_ENST00000340366.6_Silent_p.S784S NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 847 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AGCCCTCCAGCTCCCCACAGT 0.607000 7 16 0 0 0.248553 0 0 CSMD3 114788 broad.mit.edu 37 8 113301749 113301749 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:113301749G>A ENST00000297405.5 - 57 9237 c.8993C>T c.(8992-8994)cCt>cTt p.P2998L CSMD3_ENST00000343508.3_Missense_Mutation_p.P2958L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2829L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2928L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2998 Sushi 21. 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 AGGAACGCCAGGGTGTCCACA 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 47 0 0 0.667858 0 0 PNKP 11284 broad.mit.edu 37 19 50364730 50364730 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:50364730G>A ENST00000322344.3 - 16 1533 c.1424C>T c.(1423-1425)tCa>tTa p.S475L PNKP_ENST00000600573.1_Missense_Mutation_p.S444L|PNKP_ENST00000600910.1_Silent_p.V438V|PNKP_ENST00000596014.1_Missense_Mutation_p.S475L NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 475 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GACCATGTCTGACACGGGGAT 0.622000 Other BER factors 27 83 0 0 0.740014 0 0 RMDN2 151393 broad.mit.edu 37 2 38179071 38179071 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:38179071G>A ENST00000407257.1 + 2 860 c.713G>A c.(712-714)aGg>aAg p.R238K RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Missense_Mutation_p.R238K|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.R238K regulator of microtubule dynamics 2 ATTCAACAAAGGGGCCAATTA 0.398000 39 168 0 0 0.804634 0 0 ADAM15 8751 broad.mit.edu 37 1 155034448 155034448 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:155034448G>A ENST00000356955.2 + 21 2522 c.2421G>A c.(2419-2421)ccG>ccA p.P807P ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000359280.4_Silent_p.P782P|ADAM15_ENST00000449910.2_Silent_p.P806P|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000368412.3_Intron NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 807 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) TGAGAAGCCCGAAGGTAACGG 0.677000 OREG0013848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 97 141 0 0 0.870114 0 0 XKR4 114786 broad.mit.edu 37 8 56015534 56015534 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:56015534C>T ENST00000327381.5 + 1 586 c.486C>T c.(484-486)ttC>ttT p.F162F NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 162 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TGCAAGTGTTCAGCTTCCGCT 0.652000 24 63 0 0 0.639603 0 0 CYP2E1 1571 broad.mit.edu 37 10 135345198 135345198 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:135345198G>C ENST00000463117.2 + 5 719 c.447G>C c.(445-447)agG>agC p.R149S CYP2E1_ENST00000252945.3_Missense_Mutation_p.R149S|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000480558.1_3'UTR P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 149 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|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|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) GGATCCAGAGGGAGGCCCACT 0.597000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 59 72 0 0 0.870114 0 0 FRRS1 391059 broad.mit.edu 37 1 100203724 100203724 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:100203724C>G ENST00000414213.1 - 7 1278 c.677G>C c.(676-678)aGa>aCa p.R226T FRRS1_ENST00000287474.5_Missense_Mutation_p.R226T Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 226 DOMON. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) TTGGTCATCTCTTGTGAAGGA 0.458000 11 127 0 0 0.361761 0 0 OR3A4P 390756 broad.mit.edu 37 17 3213694 3213694 + RNA SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:3213694C>G ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA AGCCCATCCTCTTTGTCATCT 0.527000 32 95 0 0 0.760397 0 0 POTEA 340441 broad.mit.edu 37 8 43173738 43173738 + RNA SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:43173738C>T ENST00000522175.2 + 0 1024 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CAGCAATTTCCTAACACAGAG 0.393000 18 72 0 0 0.520397 0 0 MTA2 9219 broad.mit.edu 37 11 62364201 62364201 + Nonsense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:62364201C>A ENST00000278823.2 - 9 1179 c.790G>T c.(790-792)Gag>Tag p.E264* MTA2_ENST00000524902.1_Nonsense_Mutation_p.E91*|MTA2_ENST00000527204.1_Nonsense_Mutation_p.E91* NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 264 SANT. chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 TCCTCCATCTCATCCCGACAC 0.537000 54 110 9.55421e-19 1.0156e-18 0.870114 1 0 TMC6 11322 broad.mit.edu 37 17 76121048 76121048 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:76121048C>T ENST00000590602.1 - 7 714 c.555G>A c.(553-555)ccG>ccA p.P185P TMC6_ENST00000589553.1_Intron|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Silent_p.P185P|TMC6_ENST00000392467.3_Silent_p.P185P|TMC6_ENST00000306591.7_Silent_p.P185P Q7Z403 TMC6_HUMAN transmembrane channel-like 6 185 endoplasmic reticulum membrane|integral to membrane NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) ACTTCCCCCTCGGGGTCCTGC 0.682000 6 6 0 0 0.307466 0 0 IPO11 51194 broad.mit.edu 37 5 61779927 61779927 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:61779927C>G ENST00000325324.6 + 11 1281 c.1112C>G c.(1111-1113)tCt>tGt p.S371C KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.S411C NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 371 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) AGATTAGTCTCTCATTATTTC 0.343000 6 159 0 0 0.217242 0 0 OR1S1 219959 broad.mit.edu 37 11 57982933 57982933 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:57982933G>A ENST00000309433.6 + 1 717 c.717G>A c.(715-717)ctG>ctA p.L239L NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L239L(1) breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) GAGCTGTCCTGAGAGTATCTT 0.438000 42 75 0 0 0.853193 0 0 ACADVL 37 broad.mit.edu 37 17 7128359 7128359 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:7128359C>T ENST00000356839.5 + 20 2090 c.1911C>T c.(1909-1911)atC>atT p.I637I ACADVL_ENST00000350303.5_Silent_p.I615I|ACADVL_ENST00000543245.2_Silent_p.I660I NM_000018.3|NM_001270448.1 NP_000009.1|NP_001257377.1 P49748 ACADV_HUMAN acyl-CoA dehydrogenase, very long chain 637 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1) 21 TCAAAAGCATCTCCAAGGCCT 0.617000 38 142 0 0 0.859065 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913599 77913599 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:77913599C>T ENST00000321110.1 - 2 614 c.319G>A c.(319-321)Gag>Aag p.E107K NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 107 Pro-rich. nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GCTGGGGCCTCCTGGAGTTCC 0.637000 8 13 0 0 0.335167 0 0 CGN 57530 broad.mit.edu 37 1 151491282 151491282 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:151491282C>G ENST00000271636.7 + 2 420 c.287C>G c.(286-288)tCa>tGa p.S96* NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 90 Head. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GCTCTGAGCTCAGATTTGGAA 0.577000 26 53 0 0 0.681144 0 0 POU2F2 5452 broad.mit.edu 37 19 42600360 42600360 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:42600360G>C ENST00000342301.4 - 8 603 c.537C>G c.(535-537)ctC>ctG p.L179L POU2F2_ENST00000529952.1_Silent_p.L179L|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000526816.2_Silent_p.L179L|POU2F2_ENST00000389341.5_Intron|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000533720.1_Intron|POU2F2_ENST00000560398.1_Intron P09086 PO2F2_HUMAN POU class 2 homeobox 2 179 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GCGGGTGCGAGAGGTGCGGGT 0.687000 6 29 0 0 0.248553 0 0 ZNF547 284306 broad.mit.edu 37 19 57883219 57883219 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:57883219C>T ENST00000282282.3 + 3 244 c.94C>T c.(94-96)Cag>Tag p.Q32* AC003002.4_ENST00000597658.1_Nonsense_Mutation_p.Q32* NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CGATGAGGCTCAGAGATTGCT 0.512000 10 494 0 0 0.387290 0 0 FAM98A 25940 broad.mit.edu 37 2 33824236 33824236 + Splice_Site SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:33824236C>G ENST00000403368.1 - 1 122 c.53_splice c.e1+1 p.G18_splice FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Splice_Site_p.G18_splice NM_015475.3 NP_056290.3 Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 18 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) ACAATCTTACCCTAGATCTTC 0.597000 5 258 0 0 0.184627 0 0 SIGIRR 59307 broad.mit.edu 37 11 407115 407115 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:407115G>A ENST00000431843.2 - 7 981 c.675C>T c.(673-675)atC>atT p.I225I SIGIRR_ENST00000397632.3_Silent_p.I225I|SIGIRR_ENST00000531205.1_Silent_p.I225I|SIGIRR_ENST00000332725.3_Silent_p.I225I|SIGIRR_ENST00000382520.2_Silent_p.I225I NM_001135054.1 NP_001128526.1 Q6IA17 SIGIR_HUMAN single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 225 TIR. acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAAGCACCACGATGAGGCGTC 0.761000 5 14 0 0 0.217242 0 0 LRTM2 654429 broad.mit.edu 37 12 1943843 1943843 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:1943843G>T ENST00000543818.1 + 5 1911 c.1069G>T c.(1069-1071)Gag>Tag p.E357* LRTM2_ENST00000535041.1_Nonsense_Mutation_p.E357*|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000299194.1_Nonsense_Mutation_p.E357*|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 357 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) GGGGGACCCCGAGGGCGAGCA 0.652000 31 79 3.93418e-24 4.20739e-24 0.796494 1 0 HTR3D 200909 broad.mit.edu 37 3 183756393 183756393 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:183756393C>T ENST00000382489.3 + 7 1116 c.1116C>T c.(1114-1116)ctC>ctT p.L372L HTR3D_ENST00000453435.1_Silent_p.L151L|HTR3D_ENST00000428798.2_Silent_p.L322L|HTR3D_ENST00000334128.2_Silent_p.L197L NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 372 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCCCGGGTCTCACCCCCACCC 0.642000 5 77 0 0 0.217242 0 0 NOS2 4843 broad.mit.edu 37 17 26114705 26114705 + Splice_Site SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:26114705C>G ENST00000313735.6 - 5 699 c.467_splice c.e5+1 p.E156_splice NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 156 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) AAGCCTTACTCTTTGAAGGAG 0.517000 47 118 0 0 0.870114 0 0 KIF2B 84643 broad.mit.edu 37 17 51901140 51901140 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:51901140C>T ENST00000268919.4 + 1 902 c.746C>T c.(745-747)tCc>tTc p.S249F NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 249 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GTGCATGAGTCCAAGCAAAAG 0.537000 22 40 0 0 0.592651 0 0 CYP2C9 1559 broad.mit.edu 37 10 96701723 96701723 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:96701723G>A ENST00000260682.6 + 2 289 c.277G>A c.(277-279)Gag>Aag p.E93K CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 93 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TCTTGGAGAGGAGTTTTCTGG 0.493000 7 256 0 0 0.248553 0 0 SPG11 80208 broad.mit.edu 37 15 44878014 44878014 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:44878014C>G ENST00000261866.7 - 29 4957 c.4941G>C c.(4939-4941)caG>caC p.Q1647H SPG11_ENST00000427534.2_Missense_Mutation_p.Q1647H|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000558319.1_Missense_Mutation_p.Q1647H|SPG11_ENST00000535302.2_Missense_Mutation_p.Q1647H NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1647 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CCTTCAAAATCTGGCAAAGGA 0.358000 38 157 0 0 0.834066 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55340901 55340901 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:55340901C>G ENST00000391728.4 + 7 1119 c.1086C>G c.(1084-1086)ctC>ctG p.L362L KIR3DL1_ENST00000541392.1_Silent_p.L345L|KIR3DL1_ENST00000538269.1_Silent_p.L362L|KIR3DL1_ENST00000358178.4_Silent_p.L267L|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Silent_p.L345L NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) tccttcatctcTGGTGCTCCA 0.532000 52 80 0 0 0.870114 0 0 CLSPN 63967 broad.mit.edu 37 1 36230196 36230196 + Missense_Mutation SNP C C T rs139161179 byFrequency TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:36230196C>T ENST00000251195.5 - 3 349 c.253G>A c.(253-255)Gag>Aag p.E85K CLSPN_ENST00000520551.1_Missense_Mutation_p.E85K|CLSPN_ENST00000373220.3_Missense_Mutation_p.E85K|CLSPN_ENST00000318121.3_Missense_Mutation_p.E85K Q9HAW4 CLSPN_HUMAN claspin 85 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTTTCCTCCTCGGCACTGTCA 0.373000 23 160 0 0 0.624587 0 0 TMEM55A 55529 broad.mit.edu 37 8 92032432 92032432 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:92032432G>A ENST00000285419.3 - 3 629 c.315C>T c.(313-315)ctC>ctT p.L105L NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 105 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) CCTTACAAATGAGAAGACAAT 0.378000 30 151 0 0 0.769981 0 0 ACLY 47 broad.mit.edu 37 17 40040448 40040448 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:40040448C>G ENST00000352035.2 - 19 2282 c.2152G>C c.(2152-2154)Gag>Cag p.E718Q ACLY_ENST00000537919.1_Missense_Mutation_p.E447Q|ACLY_ENST00000353196.1_Missense_Mutation_p.E708Q|ACLY_ENST00000590151.1_Missense_Mutation_p.E718Q|ACLY_ENST00000393896.2_Missense_Mutation_p.E708Q NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 718 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) TAACTCACCTCTCCAAGAACC 0.358000 25 62 0 0 0.681144 0 0 IDS 3423 broad.mit.edu 37 X 148586602 148586602 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:148586602G>A ENST00000340855.6 - 1 275 c.66C>T c.(64-66)gtC>gtT p.V22V AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000428056.2_Silent_p.V22V|IDS_ENST00000370441.4_Silent_p.V22V|IDS_ENST00000370443.4_Silent_p.V22V|IDS_ENST00000541269.1_Intron NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 22 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) ATCCGAGGGCGACGCAGACGG 0.682000 17 24 0 0 0.575678 0 0 AP2M1 1173 broad.mit.edu 37 3 183896864 183896864 + Missense_Mutation SNP G G C rs71798037 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:183896864G>C ENST00000382456.3 + 3 608 c.294G>C c.(292-294)gaG>gaC p.E98D EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Missense_Mutation_p.E123D|AP2M1_ENST00000292807.5_Missense_Mutation_p.E98D|AP2M1_ENST00000439647.1_Missense_Mutation_p.E98D NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 98 axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGATCAGCGAGGAAAACATCA 0.522000 47 341 0 0 0.870114 0 0 ESRP1 54845 broad.mit.edu 37 8 95683700 95683700 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:95683700C>T ENST00000433389.2 + 11 1443 c.1253C>T c.(1252-1254)tCg>tTg p.S418L ESRP1_ENST00000358397.5_Missense_Mutation_p.S418L|ESRP1_ENST00000454170.2_Missense_Mutation_p.S418L|ESRP1_ENST00000423620.2_Missense_Mutation_p.S418L NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 418 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 CGATTCTCCTCGGCCCCTCTC 0.483000 30 73 0 0 0.729181 0 0 RIMKLB 57494 broad.mit.edu 37 12 8906664 8906664 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:8906664G>C ENST00000357529.3 + 6 1934 c.672G>C c.(670-672)ggG>ggC p.G224G RIMKLB_ENST00000535829.1_Silent_p.G224G|RIMKLB_ENST00000538135.1_Silent_p.G224G|RIMKLB_ENST00000299673.5_3'UTR NM_020734.2 NP_065785.2 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family member B 224 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CAACAGATGGGAGAATGCAAA 0.383000 37 110 0 0 0.840704 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128268677 128268677 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:128268677C>T ENST00000265960.3 - 8 1310 c.978G>A c.(976-978)gaG>gaA p.E326E MAPKAP1_ENST00000373503.3_Silent_p.E134E|MAPKAP1_ENST00000373498.1_Silent_p.E326E|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000394063.1_Silent_p.E134E|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373511.2_Silent_p.E326E NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 326 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 CGCTCTGCTTCTCCAGGCGGT 0.552000 35 107 0 0 0.788014 0 0 GPD2 2820 broad.mit.edu 37 2 157425415 157425415 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:157425415C>G ENST00000310454.6 + 10 1616 c.1244C>G c.(1243-1245)tCt>tGt p.S415C GPD2_ENST00000409674.1_Missense_Mutation_p.S415C|GPD2_ENST00000438166.2_Missense_Mutation_p.S415C|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.S188C NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 415 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 GATACTCAGTCTATCTCCCGA 0.413000 61 241 0 0 0.870114 0 0 MYH1 4619 broad.mit.edu 37 17 10415430 10415430 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:10415430G>A ENST00000226207.5 - 13 1321 c.1227C>T c.(1225-1227)gtC>gtT p.V409V CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 409 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ACTCATTGCCGACCTTGACCC 0.458000 133 321 0 0 0.870114 0 0 LRBA 987 broad.mit.edu 37 4 151509251 151509251 + Silent SNP G G C rs4613549 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:151509251G>C ENST00000535741.1 - 40 6752 c.6279C>G c.(6277-6279)ctC>ctG p.L2093L LRBA_ENST00000357115.3_Silent_p.L2104L|LRBA_ENST00000507224.1_Silent_p.L2093L|LRBA_ENST00000510413.1_Silent_p.L2093L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2104 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) CCTCAAAATAGAGTTCGGAGG 0.473000 5 289 0 0 0.184627 0 0 NFIC 4782 broad.mit.edu 37 19 3435121 3435121 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:3435121G>C ENST00000589123.1 + 6 967 c.847G>C c.(847-849)Gac>Cac p.D283H NFIC_ENST00000395111.3_Missense_Mutation_p.D283H|NFIC_ENST00000346156.5_Missense_Mutation_p.D259H|NFIC_ENST00000341919.3_Missense_Mutation_p.D292H|NFIC_ENST00000590282.1_Missense_Mutation_p.D292H|NFIC_ENST00000586919.1_Missense_Mutation_p.D259H|NFIC_ENST00000443272.2_Missense_Mutation_p.D292H NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 292 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) GGAAGACGTGGACACGAGCCC 0.662000 4 4 0 0 0.150653 0 0 ERBB4 2066 broad.mit.edu 37 2 212530143 212530143 + Silent SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:212530143T>C ENST00000342788.4 - 15 2086 c.1776A>G c.(1774-1776)aaA>aaG p.K592K ERBB4_ENST00000436443.1_Silent_p.K592K|ERBB4_ENST00000402597.1_Silent_p.K592K NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 592 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CATCTGGACATTTTTCCACAC 0.433000 TSP Lung(8;0.080) 28 85 0 0 0.717897 0 0 VPS41 27072 broad.mit.edu 37 7 38785180 38785180 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:38785180C>G ENST00000310301.4 - 23 2014 c.1960G>C c.(1960-1962)Gaa>Caa p.E654Q VPS41_ENST00000395969.2_Missense_Mutation_p.E629Q NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 654 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 ACTGTCTCTTCTACAAAGTTT 0.338000 62 167 0 0 0.870114 0 0 TRPM2 7226 broad.mit.edu 37 21 45826645 45826645 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:45826645G>T ENST00000397928.1 + 19 3404 c.2959G>T c.(2959-2961)Gac>Tac p.D987Y TRPM2_ENST00000300482.5_Missense_Mutation_p.D987Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.D987Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.D967Y NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 987 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GGGCTACATCGACGGTAGGAG 0.667000 6 12 0.00116845 0.00119166 0.217242 1 0 RBM45 129831 broad.mit.edu 37 2 178977396 178977396 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:178977396G>C ENST00000286070.5 + 1 215 c.123G>C c.(121-123)ctG>ctC p.L41L NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 41 RRM 1. cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) AGTCGGTGCTGAGGGAGCGCT 0.627000 OREG0015102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 91 0 0 0.624587 0 0 MYO16 23026 broad.mit.edu 37 13 109496836 109496836 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:109496836G>A ENST00000356711.2 + 10 1303 c.1177G>A c.(1177-1179)Gag>Aag p.E393K MYO16_ENST00000357550.2_Missense_Mutation_p.E393K|MYO16_ENST00000251041.5_Missense_Mutation_p.E393K NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 393 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CACCAAACCCGAGCAGGTAAT 0.388000 18 63 0 0 0.592651 0 0 OSGIN2 734 broad.mit.edu 37 8 90926409 90926409 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:90926409G>C ENST00000451899.2 + 3 564 c.304G>C c.(304-306)Gaa>Caa p.E102Q OSGIN2_ENST00000297438.2_Missense_Mutation_p.E58Q|OSGIN2_ENST00000520659.1_Missense_Mutation_p.E102Q NM_001126111.1 NP_001119583.1 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family member 2 58 germ cell development|meiosis breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(11;0.0344) TAGTAAATTAGAAGAAGCAAG 0.289000 38 157 0 0 0.804634 0 0 ME3 10873 broad.mit.edu 37 11 86160950 86160950 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:86160950G>C ENST00000543262.1 - 10 1438 c.1112C>G c.(1111-1113)tCt>tGt p.S371C RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.S371C|ME3_ENST00000359636.2_Missense_Mutation_p.S371C NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 371 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) GAGCCCTTTAGAGTCCACCAT 0.522000 75 160 0 0 0.870114 0 0 SLC25A41 284427 broad.mit.edu 37 19 6427441 6427441 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:6427441G>A ENST00000321510.6 - 5 764 c.696C>T c.(694-696)atC>atT p.I232I NM_173637.3 NP_775908.2 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 232 transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 CTCGCTGCAAGATCTGCCTGG 0.627000 5 12 0 0 0.217242 0 0 MACF1 23499 broad.mit.edu 37 1 39792905 39792905 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:39792905G>A ENST00000564288.1 + 36 5271 c.4494G>A c.(4492-4494)gaG>gaA p.E1498E MACF1_ENST00000372915.3_Silent_p.E1503E|MACF1_ENST00000317713.7_Silent_p.E1503E|MACF1_ENST00000539005.1_Silent_p.E1503E|MACF1_ENST00000567887.1_Silent_p.E1535E|MACF1_ENST00000361689.2_Silent_p.E1503E|MACF1_ENST00000545844.1_Silent_p.E1503E|MACF1_ENST00000476350.1_3'UTR Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1503 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGAAAAAGAGAAGAAACAAA 0.388000 13 74 0 0 0.435327 0 0 RFX6 222546 broad.mit.edu 37 6 117232167 117232167 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:117232167C>T ENST00000332958.2 + 7 758 c.742C>T c.(742-744)Caa>Taa p.Q248* RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 248 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 CCCCAGCGCTCAACACCTTGT 0.363000 40 169 0 0 0.859065 0 0 SNHG14 104472715 broad.mit.edu 37 15 25304817 25304817 + RNA SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:25304817G>A ENST00000549804.2 + 0 210 TGGAGTGAGGGAGAGCTTCCA 0.522000 14 67 0 0 0.500413 0 0 CSRNP1 64651 broad.mit.edu 37 3 39184825 39184825 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:39184825G>C ENST00000273153.5 - 5 1668 c.1491C>G c.(1489-1491)ctC>ctG p.L497L CSRNP1_ENST00000514182.1_Silent_p.L497L NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 497 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 AAGACAAGCTGAGATCCACTG 0.552000 28 33 0 0 0.693898 0 0 MUC3A 4584 broad.mit.edu 37 7 100552961 100552961 + Nonsense_Mutation SNP C C T rs148590091 by1000genomes TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:100552961C>T ENST00000319509.7 + 2 1606 c.1606C>T c.(1606-1608)Cag>Tag p.Q536* mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CTGTCAGCTCCAGACCAGATG 0.557000 7 131 0 0 0.479597 0 0 CHRM5 1133 broad.mit.edu 37 15 34356124 34356124 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:34356124C>G ENST00000383263.5 + 3 1876 c.1206C>G c.(1204-1206)atC>atG p.I402M CHRM5_ENST00000557872.1_Missense_Mutation_p.I402M NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 402 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) AGGTGAAAATCATGCCCTGCC 0.502000 3 135 0 0 0.115264 0 0 AGO3 192669 broad.mit.edu 37 1 36521242 36521242 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:36521242G>A ENST00000373191.4 + 19 2828 c.2479G>A c.(2479-2481)Gaa>Aaa p.E827K AGO3_ENST00000246314.6_Missense_Mutation_p.E593K NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 TTACAGTGCTGAAGGAAGTCA 0.378000 10 212 0 0 0.361761 0 0 POGZ 23126 broad.mit.edu 37 1 151377284 151377284 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:151377284C>G ENST00000271715.2 - 19 4541 c.4227G>C c.(4225-4227)gaG>gaC p.E1409D POGZ_ENST00000491586.1_Missense_Mutation_p.E1365D|POGZ_ENST00000540984.1_Missense_Mutation_p.E771D|POGZ_ENST00000531094.1_Missense_Mutation_p.E1347D|POGZ_ENST00000368863.2_Missense_Mutation_p.E1314D|POGZ_ENST00000392723.1_Missense_Mutation_p.E1356D|POGZ_ENST00000409503.1_Missense_Mutation_p.E1400D|POGZ_ENST00000361398.3_Missense_Mutation_p.E1356D NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1409 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACACTCAAATCTCCATCAGAT 0.507000 OREG0003905 type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 34 73 0 0 0.870114 0 0 GRHL1 29841 broad.mit.edu 37 2 10098934 10098934 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:10098934C>T ENST00000324907.9 + 3 363 c.227C>T c.(226-228)tCa>tTa p.S76L GRHL1_ENST00000405379.2_Missense_Mutation_p.S76L|GRHL1_ENST00000324883.5_5'UTR NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 76 Transcription activation. cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) GAGAGAAGGTCATCAACAGCA 0.443000 15 46 0 0 0.500413 0 0 CCDC67 159989 broad.mit.edu 37 11 93127665 93127665 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:93127665C>G ENST00000298050.3 + 10 1182 c.1082C>G c.(1081-1083)tCt>tGt p.S361C CCDC67_ENST00000525646.1_Missense_Mutation_p.S103C NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 361 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TACCATAACTCTGAGCAGGAA 0.393000 9 13 0 0 0.387290 0 0 CTBP2 1488 broad.mit.edu 37 10 126681775 126681775 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:126681775G>A ENST00000309035.6 - 7 2785 c.2655C>T c.(2653-2655)atC>atT p.I885I CTBP2_ENST00000531469.1_Silent_p.I345I|CTBP2_ENST00000411419.2_Silent_p.I345I|CTBP2_ENST00000337195.5_Silent_p.I345I|CTBP2_ENST00000494626.2_Silent_p.I345I|CTBP2_ENST00000334808.6_Silent_p.I413I NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 345 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) GCTCACCTGTGATGGCTCGGC 0.642000 9 14 0 0 0.539581 0 0 RNH1 6050 broad.mit.edu 37 11 500607 500607 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:500607G>C ENST00000534797.1 - 2 1556 c.149C>G c.(148-150)tCt>tGt p.S50C RNH1_ENST00000397614.1_Missense_Mutation_p.S50C|RNH1_ENST00000397604.3_Missense_Mutation_p.S50C|RNH1_ENST00000533410.1_Missense_Mutation_p.S50C|RNH1_ENST00000356187.5_Missense_Mutation_p.S50C|RNH1_ENST00000354420.2_Missense_Mutation_p.S50C|RNH1_ENST00000397615.2_Missense_Mutation_p.S50C|RNH1_ENST00000438658.2_Missense_Mutation_p.S50C P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 1 50 mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCGAAGTGCAGAGCTGATGTC 0.642000 20 60 0 0 0.592651 0 0 FAM81B 153643 broad.mit.edu 37 5 94784011 94784011 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:94784011G>C ENST00000283357.5 + 9 1114 c.1068G>C c.(1066-1068)caG>caC p.Q356H NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 356 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) AACTGCTGCAGCTTTCAAGCA 0.313000 9 52 0 0 0.335167 0 0 SSTR1 6751 broad.mit.edu 37 14 38678632 38678632 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:38678632C>G ENST00000267377.2 + 3 655 c.38C>G c.(37-39)tCt>tGt p.S13C NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 13 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CCTTCCTCCTCTCCTAGCCCC 0.746000 11 6 0 0 0.435327 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43636430 43636430 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:43636430C>T ENST00000431635.2 - 5 757 c.609G>A c.(607-609)caG>caA p.Q203Q EBNA1BP2_ENST00000236051.2_Silent_p.Q148Q NM_001159936.1 NP_001153408.1 Q99848 EBP2_HUMAN EBNA1 binding protein 2 148 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTCTTACCTTCTGCATCTGCA 0.453000 77 308 0 0 0.870114 0 0 TJP3 27134 broad.mit.edu 37 19 3734394 3734394 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:3734394C>T ENST00000541714.2 + 8 1409 c.947C>T c.(946-948)gCt>gTt p.A316V TJP3_ENST00000587686.1_Missense_Mutation_p.A335V|TJP3_ENST00000539908.2_Missense_Mutation_p.A280V|TJP3_ENST00000382008.3_Missense_Mutation_p.A330V|TJP3_ENST00000589378.1_Missense_Mutation_p.A325V|TJP3_ENST00000262968.9_Missense_Mutation_p.A349V NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 330 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCGGCATGCTCAGCGGAGC 0.637000 13 61 0 0 0.500413 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144882644 144882644 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:144882644C>G ENST00000369359.4 - 27 3824 c.3786G>C c.(3784-3786)ctG>ctC p.L1262L PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Silent_p.L1262L|PDE4DIP_ENST00000369354.3_Silent_p.L1125L|PDE4DIP_ENST00000369356.4_Silent_p.L1125L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1125 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCTTGCTACTCAGCACAAGTT 0.463000 T PDGFRB MPD 27 372 0 0 0.693898 0 0 DUSP10 11221 broad.mit.edu 37 1 221912637 221912637 + Missense_Mutation SNP G G C rs35391196 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:221912637G>C ENST00000366899.3 - 2 688 c.450C>G c.(448-450)atC>atG p.I150M DUSP10_ENST00000323825.3_Intron NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 150 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) CATTGGGGTAGATTATTTTGA 0.512000 5 123 0 0 0.184627 0 0 LATS2 26524 broad.mit.edu 37 13 21565498 21565498 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:21565498C>T ENST00000382592.4 - 3 793 c.388G>A c.(388-390)Gag>Aag p.E130K LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.E130K NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 130 UBA. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) AGGGCGGCCTCGATGCTCCTG 0.577000 15 65 0 0 0.457914 0 0 IMPG2 50939 broad.mit.edu 37 3 100976587 100976587 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:100976587G>T ENST00000193391.7 - 10 1126 c.939C>A c.(937-939)ttC>ttA p.F313L NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 313 SEA 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CCTCACCATTGAAGGTAACTG 0.468000 24 181 2.65835e-16 2.81606e-16 0.717897 1 0 MTMR4 9110 broad.mit.edu 37 17 56572322 56572322 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:56572322C>G ENST00000323456.5 - 16 3305 c.3181G>C c.(3181-3183)Gag>Cag p.E1061Q MTMR4_ENST00000579925.1_Missense_Mutation_p.E1004Q NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 1061 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATGGGGGGCTCTGCTGGAGGG 0.512000 18 69 0 0 0.520397 0 0 DNAH3 55567 broad.mit.edu 37 16 20944735 20944735 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:20944735G>A ENST00000261383.3 - 62 12091 c.12092C>T c.(12091-12093)aCg>aTg p.T4031M DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 4031 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) AATCTGCATCGTTTTCCTGTC 0.507000 52 133 0 0 0.870114 0 0 B3GALT4 8705 broad.mit.edu 37 6 33245746 33245746 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:33245746G>C ENST00000451237.1 + 1 830 c.550G>C c.(550-552)Gaa>Caa p.E184Q NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 184 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 CAACGTCCCTGAACTGGTATC 0.587000 93 82 0 0 0.870114 0 0 PARP14 54625 broad.mit.edu 37 3 122447299 122447299 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:122447299C>T ENST00000474629.2 + 17 5527 c.5261C>T c.(5260-5262)tCa>tTa p.S1754L NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1754 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GGAAATCATTCATTAATTGTG 0.388000 51 200 0 0 0.870114 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450043 85450043 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:85450043G>C ENST00000393217.2 + 8 1533 c.1472G>C c.(1471-1473)cGa>cCa p.R491P NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 491 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GCAAAAAAACGATGTTCAGAA 0.289000 16 62 0 0 0.479597 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21054307 21054307 + Missense_Mutation SNP T T G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:21054307T>G ENST00000381545.3 + 15 1990 c.1771T>G c.(1771-1773)Ttt>Gtt p.F591V SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F591V|LST3_ENST00000540229.1_Missense_Mutation_p.F591V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F591V NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 591 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TCCAATATATTTTGGGGCTCT 0.378000 71 169 0 0 0.870114 0 0 DNAH7 56171 broad.mit.edu 37 2 196661353 196661353 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:196661353G>A ENST00000312428.6 - 56 10562 c.10462C>T c.(10462-10464)Cag>Tag p.Q3488* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3488 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGACAATTCTGAAGAACAACC 0.418000 20 71 0 0 0.557998 0 0 HIST1H2AC 8334 broad.mit.edu 37 6 26124521 26124521 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:26124521C>T ENST00000602637.1 + 1 91 c.61C>T c.(61-63)Cgc>Tgc p.R21C HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R21C Q93077 H2A1C_HUMAN histone cluster 1, H2ac 21 nucleosome assembly nucleosome|nucleus DNA binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5) 12 CCGCTCTTCTCGCGCTGGTCT 0.612000 29 20 0 0 0.740014 0 0 CNTN5 53942 broad.mit.edu 37 11 99786823 99786823 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:99786823C>T ENST00000524871.1 + 7 905 c.615C>T c.(613-615)gtC>gtT p.V205V CNTN5_ENST00000527185.1_Silent_p.V205V|CNTN5_ENST00000418526.2_Silent_p.V131V|CNTN5_ENST00000279463.3_Silent_p.V205V|CNTN5_ENST00000528682.1_Silent_p.V205V NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 205 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GAAGTGCAGTCTCTGTGAGGG 0.453000 10 25 0 0 0.361761 0 0 PDHA2 5161 broad.mit.edu 37 4 96761615 96761615 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:96761615G>A ENST00000295266.4 + 1 377 c.314G>A c.(313-315)gGc>gAc p.G105D NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 105 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CTTGAGGCCGGCATAAACCCC 0.517000 5 194 0 0 0.184627 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604130 140604130 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:140604130G>A ENST00000239449.4 + 1 1053 c.1053G>A c.(1051-1053)tcG>tcA p.S351S PCDHB14_ENST00000515856.2_Silent_p.S198S NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 351 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.S351S(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCATATCGTCGATTACAAAGA 0.428000 37 82 0 0 0.812448 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77216299 77216299 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:77216299G>A ENST00000426126.2 + 8 1534 c.885G>A c.(883-885)ctG>ctA p.L295L ZDHHC17_ENST00000334822.5_Silent_p.L295L NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 295 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 TTAGAAAGCTGAAAGCTGATA 0.398000 7 21 0 0 0.248553 0 0 KIAA1109 84162 broad.mit.edu 37 4 123167863 123167863 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:123167863C>T ENST00000264501.4 + 34 5583 c.5210C>T c.(5209-5211)tCa>tTa p.S1737L KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1737L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1737L Q2LD37 K1109_HUMAN KIAA1109 1737 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TTACAAGCCTCAGTGGAAGAA 0.378000 30 124 0 0 0.750413 0 0 TTN 7273 broad.mit.edu 37 2 179463706 179463706 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:179463706C>T ENST00000589042.1 - 291 56955 c.56731G>A c.(56731-56733)Gat>Aat p.D18911N TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9846N|TTN_ENST00000591111.1_Missense_Mutation_p.D17270N|TTN_ENST00000342175.6_Missense_Mutation_p.D10038N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16343N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9971N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17270 Ig-like 107. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D9971N(1)|p.D16343N(1)|p.D10038N(1)|p.D16341N(1)|p.D9846N(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGCCTCCATCATATTCTGGC 0.463000 12 32 0 0 0.500413 0 0 DZIP3 9666 broad.mit.edu 37 3 108326985 108326985 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:108326985G>C ENST00000361582.3 + 3 312 c.82G>C c.(82-84)Gaa>Caa p.E28Q DZIP3_ENST00000463306.1_Missense_Mutation_p.E28Q NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 28 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 GAATAAGCTAGAAAAATCATC 0.313000 39 154 0 0 0.847076 0 0 KRT16P6 353194 broad.mit.edu 37 17 16722380 16722380 + RNA SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:16722380G>A ENST00000417510.1 - 0 1350 AGCTGGGCCAGCTGCTCCTCC 0.592000 27 135 0 0 0.681144 0 0 PGM5 5239 broad.mit.edu 37 9 71094415 71094415 + Missense_Mutation SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:71094415T>C ENST00000396396.1 + 8 1470 c.1241T>C c.(1240-1242)gTg>gCg p.V414A NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 414 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 AAGCAGAGTGTGGAGGAAATT 0.522000 44 115 0 0 0.834066 0 0 MAPK9 5601 broad.mit.edu 37 5 179696288 179696288 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:179696288G>A ENST00000452135.2 - 3 542 c.244C>T c.(244-246)Cat>Tat p.H82Y MAPK9_ENST00000539014.1_Missense_Mutation_p.H82Y|MAPK9_ENST00000425491.2_Missense_Mutation_p.H82Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.H82Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.H82Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.H82Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.H82Y|MAPK9_ENST00000397072.3_3'UTR P45984 MK09_HUMAN mitogen-activated protein kinase 9 82 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACATTTTTATGATTGACACAT 0.363000 6 124 0 0 0.248553 0 0 BAZ2B 29994 broad.mit.edu 37 2 160295712 160295712 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:160295712C>G ENST00000392783.2 - 7 1203 c.708G>C c.(706-708)aaG>aaC p.K236N BAZ2B_ENST00000343439.5_Missense_Mutation_p.K234N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.K236N|BAZ2B_ENST00000392782.1_Missense_Mutation_p.K234N NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 236 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CCATTGCTTTCTTCCTTGGTT 0.363000 71 162 0 0 0.870114 0 0 CDON 50937 broad.mit.edu 37 11 125830980 125830980 + Nonsense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:125830980C>A ENST00000392693.3 - 20 3848 c.3721G>T c.(3721-3723)Gaa>Taa p.E1241* CDON_ENST00000263577.7_Nonsense_Mutation_p.E1218*|CDON_ENST00000531738.1_Nonsense_Mutation_p.E595* NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 1241 cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) ATCTCTGTTTCTGAATGGGCA 0.443000 18 49 2.94398e-08 3.04789e-08 0.557998 1 0 L3MBTL3 84456 broad.mit.edu 37 6 130425591 130425591 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:130425591C>G ENST00000529410.1 + 21 2236 c.1757C>G c.(1756-1758)tCa>tGa p.S586* L3MBTL3_ENST00000368139.2_Nonsense_Mutation_p.S561*|L3MBTL3_ENST00000368136.2_Nonsense_Mutation_p.S586*|L3MBTL3_ENST00000526019.1_Nonsense_Mutation_p.S561*|L3MBTL3_ENST00000533560.1_Nonsense_Mutation_p.S561*|L3MBTL3_ENST00000361794.2_Nonsense_Mutation_p.S586* Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 586 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TGTCCCTATTCAGAAATCAAT 0.368000 78 158 0 0 0.870114 0 0 MST1R 4486 broad.mit.edu 37 3 49927430 49927430 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:49927430C>G ENST00000296474.3 - 19 3901 c.3874G>C c.(3874-3876)Gac>Cac p.D1292H MST1R_ENST00000344206.4_Missense_Mutation_p.D1243H NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1292 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TCAAAAGGGTCAATGTGGCGG 0.597000 3 91 0 0 0.115264 0 0 BRWD1 54014 broad.mit.edu 37 21 40574319 40574319 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:40574319G>C ENST00000342449.3 - 38 4595 c.4517C>G c.(4516-4518)tCa>tGa p.S1506* BRWD1_ENST00000380800.3_Nonsense_Mutation_p.S1506*|BRWD1_ENST00000333229.2_Nonsense_Mutation_p.S1506* NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1506 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TGCTGAATCTGAAGAGTCACC 0.403000 31 85 0 0 0.769981 0 0 SEMA5A 9037 broad.mit.edu 37 5 9044561 9044561 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:9044561G>T ENST00000382496.5 - 22 3694 c.3029C>A c.(3028-3030)tCa>tAa p.S1010* CTD-2215L10.1_ENST00000506519.1_RNA NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 1010 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GGGGGCAGGTGAGACGGGGTG 0.527000 68 228 4.60868e-44 5.00255e-44 0.870114 1 0 PRKAB1 5564 broad.mit.edu 37 12 120111803 120111803 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:120111803G>C ENST00000229328.5 + 3 850 c.358G>C c.(358-360)Gaa>Caa p.E120Q PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Missense_Mutation_p.E120Q NM_006253.4 NP_006244.2 Q9Y478 AAKB1_HUMAN protein kinase, AMP-activated, beta 1 non-catalytic subunit 120 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol endometrium(2)|large_intestine(3)|lung(5) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) GGATCTGCCGGAAGGAGAGCA 0.567000 27 139 0 0 0.750413 0 0 OTOGL 283310 broad.mit.edu 37 12 80717543 80717543 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:80717543G>C ENST00000458043.2 + 34 4101 c.4095G>C c.(4093-4095)tgG>tgC p.W1365C OTOGL_ENST00000547103.1_Missense_Mutation_p.W1365C NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGTGTGAATGGAGATATGAAC 0.368000 21 65 0 0 0.592651 0 0 KIF6 221458 broad.mit.edu 37 6 39554121 39554121 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:39554121C>G ENST00000287152.7 - 8 1000 c.906G>C c.(904-906)atG>atC p.M302I KIF6_ENST00000373215.3_Missense_Mutation_p.M302I|KIF6_ENST00000373213.4_Missense_Mutation_p.M141I|KIF6_ENST00000538893.1_Missense_Mutation_p.M302I|KIF6_ENST00000373216.3_Missense_Mutation_p.M302I NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 302 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 GGACACTGGTCATCATGGAGT 0.413000 4 194 0 0 0.150653 0 0 OLAH 55301 broad.mit.edu 37 10 15115168 15115168 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:15115168G>A ENST00000378217.3 + 9 1084 c.897G>A c.(895-897)gaG>gaA p.E299E OLAH_ENST00000485251.1_3'UTR|OLAH_ENST00000378228.3_Silent_p.E246E NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 246 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 CTGCGAACGAGAAATTAATCA 0.328000 33 61 0 0 0.769981 0 0 TBCD 6904 broad.mit.edu 37 17 80885853 80885853 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:80885853C>G ENST00000355528.4 + 30 2812 c.2682C>G c.(2680-2682)atC>atG p.I894M TBCD_ENST00000539345.2_Missense_Mutation_p.I894M NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 894 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CTGAGCTGATCGAGGCCCATA 0.642000 19 50 0 0 0.575678 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150131448 150131448 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:150131448G>A ENST00000369124.4 + 6 1238 c.960G>A c.(958-960)caG>caA p.Q320Q PLEKHO1_ENST00000025469.6_Silent_p.Q286Q|PLEKHO1_ENST00000369126.1_Silent_p.Q137Q NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 320 Negative regulator of AP-1 activity. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AGGAGACTCAGGAGCTTCTGG 0.647000 4 117 0 0 0.150653 0 0 ITGAM 3684 broad.mit.edu 37 16 31342510 31342510 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:31342510G>T ENST00000544665.3 + 29 3375 c.3304G>T c.(3304-3306)Gag>Tag p.E1102* ITGAM_ENST00000287497.8_Nonsense_Mutation_p.E1101* NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 1101 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GGAGCCGTTCGAGGTCCCCAA 0.667000 13 34 1.05317e-09 1.09679e-09 0.457914 1 0 HYDIN 54768 broad.mit.edu 37 16 71054110 71054110 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:71054110C>T ENST00000393567.2 - 22 3447 c.3297G>A c.(3295-3297)gaG>gaA p.E1099E HYDIN_ENST00000448089.2_Silent_p.E1051E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1099 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATTTATCAGTCTCACATATAA 0.502000 9 25 0 0 0.387290 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669410 234669410 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:234669410C>T ENST00000360418.3 + 1 477 c.477C>T c.(475-477)atC>atT p.I159I UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000305208.5_Silent_p.I159I|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron P22309 UD11_HUMAN 159 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GCAGCCCCATCGTGGCCCAGT 0.557000 75 156 0 0 0.870114 0 0 GNB4 59345 broad.mit.edu 37 3 179123134 179123134 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:179123134C>G ENST00000232564.3 - 9 1046 c.760G>C c.(760-762)Gac>Cac p.D254H GNB4_ENST00000468623.1_Missense_Mutation_p.D254H NM_021629.3 NP_067642.1 Q9HAV0 GBB4_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 4 254 cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 16 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) GCACGAAGGTCAAAGAGCCGG 0.418000 47 106 0 0 0.864702 0 0 COL10A1 1300 broad.mit.edu 37 6 116442593 116442593 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:116442593C>G ENST00000327673.4 - 2 1093 c.686G>C c.(685-687)gGa>gCa p.G229A COL10A1_ENST00000243222.4_Missense_Mutation_p.G229A|NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron Q03692 COAA1_HUMAN collagen, type X, alpha 1 229 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) GCCTGGCTGTCCTGGAACCCC 0.607000 24 111 0 0 0.654019 0 0 SZT2 23334 broad.mit.edu 37 1 43908875 43908875 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:43908875G>A ENST00000562955.1 + 59 8265 c.8265G>A c.(8263-8265)atG>atA p.M2755I SZT2_ENST00000372442.1_Missense_Mutation_p.M1913I NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2812 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 AGCGCCAGATGAAGATGGAAA 0.552000 27 88 0 0 0.667858 0 0 CAPN10 11132 broad.mit.edu 37 2 241534074 241534074 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:241534074C>G ENST00000391984.2 + 6 1141 c.945C>G c.(943-945)ctC>ctG p.L315L CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.L315L|CAPN10_ENST00000391982.2_Silent_p.L315L|CAPN10_ENST00000354082.4_Silent_p.L315L|CAPN10_ENST00000352879.4_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 315 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TTGACGAGCTCACCGTTGGCT 0.642000 20 115 0 0 0.575678 0 0 GDPD3 79153 broad.mit.edu 37 16 30123849 30123849 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:30123849G>C ENST00000406256.3 - 4 736 c.359C>G c.(358-360)tCt>tGt p.S120C NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 120 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 CTCACCTGGAGAGAAGTAAAC 0.612000 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 87 0 0 0.750413 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 113000008 113000008 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:113000008G>C ENST00000271277.6 + 6 2119 c.1894G>C c.(1894-1896)Gag>Cag p.E632Q CTTNBP2NL_ENST00000607039.1_Intron|RP4-671G15.3_ENST00000508462.1_RNA NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 632 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TAAGGATGTTGAGTTACTTTT 0.478000 47 61 0 0 0.870114 0 0 FAM151A 338094 broad.mit.edu 37 1 55089033 55089033 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:55089033G>C ENST00000302250.2 - 1 196 c.36C>G c.(34-36)gtC>gtG p.V12V FAM151A_ENST00000371304.2_Silent_p.V12V|ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 12 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 ACACCCACTTGACCTGATTCT 0.612000 53 233 0 0 0.870114 0 0 THBS4 7060 broad.mit.edu 37 5 79366996 79366996 + Missense_Mutation SNP T T A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:79366996T>A ENST00000350881.2 + 13 1903 c.1713T>A c.(1711-1713)gaT>gaA p.D571E THBS4_ENST00000511733.1_Missense_Mutation_p.D480E|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 571 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) ATGACATGGATGGAGATGGTA 0.423000 62 223 0 0 0.870114 0 0 OGT 8473 broad.mit.edu 37 X 70776821 70776821 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:70776821G>A ENST00000373719.3 + 10 1403 c.1186G>A c.(1186-1188)Gat>Aat p.D396N OGT_ENST00000373701.3_Missense_Mutation_p.D386N NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 396 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TACCTTTGCTGATGCCTACTC 0.393000 35 24 0 0 0.834066 0 0 MYBPC1 4604 broad.mit.edu 37 12 102036216 102036216 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:102036216G>A ENST00000549145.1 + 10 749 c.649G>A c.(649-651)Gaa>Aaa p.E217K MYBPC1_ENST00000541119.1_Missense_Mutation_p.E192K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E204K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E204K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E185K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E178K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E190K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E105K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E204K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E204K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E204K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E229K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E204K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E191K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E229K Q00872 MYPC1_HUMAN myosin binding protein C, slow type 204 A -> T (in Ref. 1; CAA46987). cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GCAGCAGGAGGAAGAACCCCA 0.532000 9 29 0 0 0.361761 0 0 UCKL1 54963 broad.mit.edu 37 20 62587639 62587639 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:62587639C>G ENST00000358711.3 - 1 130 c.87G>C c.(85-87)gaG>gaC p.E29D UCKL1_ENST00000354216.6_Missense_Mutation_p.E29D|UCKL1_ENST00000369892.3_Missense_Mutation_p.E29D Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 29 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TCTCGCTTTTCTCAGCCTGCC 0.741000 4 17 0 0 0.150653 0 0 TCEAL2 140597 broad.mit.edu 37 X 101382452 101382452 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:101382452C>T ENST00000372780.1 + 3 869 c.650C>T c.(649-651)cCa>cTa p.P217L TCEAL2_ENST00000329035.2_Missense_Mutation_p.P217L NM_080390.3 NP_525129.1 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 TGCAGGGCCCCACGAAGGGAC 0.473000 46 73 0 0 0.870114 0 0 KIF14 9928 broad.mit.edu 37 1 200534687 200534687 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:200534687C>G ENST00000367350.4 - 24 4210 c.3772G>C c.(3772-3774)Gat>Cat p.D1258H NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1258 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CTTTCTTCATCATAACTCTGT 0.333000 6 116 0 0 0.217242 0 0 TCP10 6953 broad.mit.edu 37 6 167787923 167787923 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:167787923G>C ENST00000366827.2 - 7 916 c.705C>G c.(703-705)gtC>gtG p.V235V TCP10_ENST00000397829.4_Silent_p.V235V Q12799 TCP10_HUMAN t-complex 10 262 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) AACTCCCTAAGACTGATGAGC 0.463000 3 44 0 0 0.307466 0 0 CD300LB 124599 broad.mit.edu 37 17 72522048 72522048 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:72522048C>G ENST00000392621.1 - 2 324 c.320G>C c.(319-321)gGa>gCa p.G107A CD300LB_ENST00000314401.3_Missense_Mutation_p.G107A NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 70 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 ACTCTTCTCTCCTTGCTCCGA 0.532000 82 238 0 0 0.870114 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133930805 133930805 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:133930805C>G ENST00000298622.4 + 2 498 c.360C>G c.(358-360)ctC>ctG p.L120L NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGGCACTGCTCAGTGCCCTGC 0.612000 24 29 0 0 0.750413 0 0 TRPM2 7226 broad.mit.edu 37 21 45838391 45838391 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:45838391C>T ENST00000397928.1 + 22 3859 c.3414C>T c.(3412-3414)ttC>ttT p.F1138F TRPM2_ENST00000300482.5_Silent_p.F1138F|TRPM2_ENST00000397932.2_Silent_p.F1138F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.F1118F NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1138 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ACCGACAGTTCCAGCAAAAGC 0.612000 37 140 0 0 0.819951 0 0 NNT 23530 broad.mit.edu 37 5 43659377 43659377 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:43659377C>T ENST00000264663.5 + 17 2780 c.2559C>T c.(2557-2559)ctC>ctT p.L853L NNT_ENST00000344920.4_Silent_p.L853L|NNT_ENST00000512996.2_Silent_p.L722L NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 853 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GCTTCCTGCTCAACAACAATC 0.512000 34 113 0 0 0.779181 0 0 HAND2 9464 broad.mit.edu 37 4 174449901 174449901 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:174449901C>T ENST00000359562.4 - 1 1479 c.540G>A c.(538-540)aaG>aaA p.K180K 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 2 180 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) CCTTCTTCCTCTTCTCCTCTT 0.602000 6 28 0 0 0.217242 0 0 KRTCAP3 200634 broad.mit.edu 37 2 27665754 27665754 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:27665754C>T ENST00000543753.1 + 3 306 c.259C>T c.(259-261)Ctt>Ttt p.L87F KRTCAP3_ENST00000407293.1_Missense_Mutation_p.L69F|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.L87F NM_001168364.1 NP_001161836.1 Q53RY4 KCP3_HUMAN keratinocyte associated protein 3 87 integral to membrane large_intestine(1)|lung(2) 3 Acute lymphoblastic leukemia(172;0.155) CAGGAACCTTCTTCGCCCTCC 0.592000 32 47 0 0 0.812448 0 0 GPAT2 150763 broad.mit.edu 37 2 96690536 96690536 + Silent SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:96690536G>T ENST00000434632.1 - 15 1872 c.1413C>A c.(1411-1413)ctC>ctA p.L471L GPAT2_ENST00000453542.1_Silent_p.L400L|GPAT2_ENST00000359548.4_Silent_p.L471L|GPAT2_ENST00000377137.3_Silent_p.L471L Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 471 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 GATGCTTGAAGAGCAGCAGCG 0.657000 81 246 5.01443e-46 5.44777e-46 0.870114 1 0 HEATR1 55127 broad.mit.edu 37 1 236719107 236719107 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:236719107C>T ENST00000366582.3 - 39 5761 c.5647G>A c.(5647-5649)Gag>Aag p.E1883K HEATR1_ENST00000366581.2_Missense_Mutation_p.E1802K NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1883 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GAGCTTACCTCAGAGTGCTGG 0.493000 11 217 0 0 0.435327 0 0 WARS2 10352 broad.mit.edu 37 1 119619152 119619152 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:119619152C>G ENST00000369426.5 - 2 172 c.169G>C c.(169-171)Gag>Cag p.E57Q WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000235521.4_Missense_Mutation_p.E57Q Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 57 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) ACCCAGCTCTCAATGGCTCCC 0.483000 64 145 0 0 0.870114 0 0 RHNO1 83695 broad.mit.edu 37 12 2997289 2997289 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:2997289C>G ENST00000489288.2 + 3 533 c.381C>G c.(379-381)ccC>ccG p.P127P RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Silent_p.P113P NM_001252499.2|NM_001257097.1|NM_001257098.1 NP_001239428.1|NP_001244026.1|NP_001244027.1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 CCAGAAGACCCTTAGTTCCAG 0.488000 29 104 0 0 0.717897 0 0 PRDM11 56981 broad.mit.edu 37 11 45241142 45241142 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:45241142G>C ENST00000263765.4 + 7 927 c.678G>C c.(676-678)gaG>gaC p.E226D PRDM11_ENST00000424263.2_Missense_Mutation_p.E192D|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000530656.1_Missense_Mutation_p.E226D Q9NQV5 PRD11_HUMAN PR domain containing 11 226 SET. endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 TCTCCCGGGAGGAGAGGGAGC 0.662000 20 45 0 0 0.608945 0 0 SRBD1 55133 broad.mit.edu 37 2 45807146 45807146 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:45807146G>C ENST00000263736.4 - 7 1002 c.940C>G c.(940-942)Cca>Gca p.P314A NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 314 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GTTTTATATGGAGCAGACTAG 0.398000 4 196 0 0 0.150653 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243504340 243504340 + Splice_Site SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:243504340G>A ENST00000366541.3 + 11 1339 c.e11-1 SDCCAG8_ENST00000355875.4_Splice_Site|SDCCAG8_ENST00000343783.6_Splice_Site NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TTCCCTTACAGATGTTGATCT 0.358000 9 101 0 0 0.335167 0 0 NAP1L5 266812 broad.mit.edu 37 4 89618627 89618627 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:89618627C>G ENST00000323061.5 - 1 759 c.279G>C c.(277-279)aaG>aaC p.K93N HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 93 nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TGGCTTCTATCTTATCGCATC 0.458000 68 138 0 0 0.870114 0 0 ITGA2 3673 broad.mit.edu 37 5 52367846 52367846 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:52367846G>A ENST00000296585.5 + 18 2457 c.2314G>A c.(2314-2316)Gaa>Aaa p.E772K NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 772 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CCCTGCCCTTGAAGCCTATTC 0.468000 18 49 0 0 0.557998 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267305 103267305 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:103267305G>A ENST00000217926.5 - 2 533 c.507C>T c.(505-507)gcC>gcT p.A169A NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 169 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 gttgctgtatggcatacagtg 0.398000 23 85 0 0 0.681144 0 0 OSBP2 23762 broad.mit.edu 37 22 31091253 31091253 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:31091253C>T ENST00000332585.6 + 1 461 c.357C>T c.(355-357)ttC>ttT p.F119F OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Silent_p.F119F|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Silent_p.F119F NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 119 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CTGGGCCCTTCACTAAGGCCG 0.682000 22 55 0 0 0.624587 0 0 HTR2A 3356 broad.mit.edu 37 13 47409577 47409577 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:47409577C>G ENST00000378688.4 - 3 942 c.811G>C c.(811-813)Gat>Cat p.D271H HTR2A_ENST00000542664.1_Missense_Mutation_p.D271H|HTR2A_ENST00000543956.1_Missense_Mutation_p.D187H P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 271 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GTGCCAAGATCACTTACACAC 0.453000 26 66 0 0 0.693898 0 0 MGAM 8972 broad.mit.edu 37 7 141752582 141752582 + Splice_Site SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:141752582A>G ENST00000475668.2 + 26 3012 c.e26-1 MGAM_ENST00000549489.2_Splice_Site O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTTACTTTTCAGGCATCCAAT 0.398000 3 173 0 0 0.150653 0 0 ITPR3 3710 broad.mit.edu 37 6 33662853 33662853 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:33662853C>G ENST00000374316.5 + 58 8998 c.7938C>G c.(7936-7938)ctC>ctG p.L2646L ITPR3_ENST00000605930.1_Silent_p.L2646L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2646 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TCAACGAGCTCAAGGAGCAGG 0.612000 19 31 0 0 0.608945 0 0 SLC46A3 283537 broad.mit.edu 37 13 29287679 29287679 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:29287679C>G ENST00000266943.6 - 3 567 c.198G>C c.(196-198)caG>caC p.Q66H SLC46A3_ENST00000380814.4_Missense_Mutation_p.Q66H NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 66 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) ACACTTTTTTCTGAACTTCCT 0.353000 14 35 0 0 0.435327 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481673 140481673 + Silent SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:140481673A>G ENST00000231130.2 + 1 1440 c.1440A>G c.(1438-1440)tcA>tcG p.S480S AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 480 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGAGACTCAGGCACCAACG 0.647000 44 128 0 0 0.870114 0 0 NCOA1 8648 broad.mit.edu 37 2 24985573 24985573 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:24985573G>A ENST00000405141.1 + 23 4794 c.4083G>A c.(4081-4083)ctG>ctA p.L1361L NCOA1_ENST00000395856.3_Silent_p.L1361L|NCOA1_ENST00000288599.5_Silent_p.L1361L|NCOA1_ENST00000407230.1_Silent_p.L1210L|NCOA1_ENST00000538539.1_Silent_p.L1361L|NCOA1_ENST00000406961.1_Silent_p.L1361L|NCOA1_ENST00000348332.3_Silent_p.L1361L Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1361 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCCCGCACTGAGACACACAG 0.398000 T PAX3 alveolar rhadomyosarcoma 19 358 0 0 0.592651 0 0 SYNE1 23345 broad.mit.edu 37 6 152686096 152686096 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:152686096C>G ENST00000367255.5 - 63 10632 c.10031G>C c.(10030-10032)gGa>gCa p.G3344A SYNE1_ENST00000448038.1_Missense_Mutation_p.G3351A|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3351A|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3344A|SYNE1_ENST00000341594.5_Missense_Mutation_p.G3383A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3344 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) GACAGATTCTCCCCTGGTCAC 0.428000 HNSCC(10;0.0054) 36 110 0 0 0.779181 0 0 KDM2A 22992 broad.mit.edu 37 11 66985207 66985207 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:66985207C>T ENST00000529006.2 + 9 1139 c.693C>T c.(691-693)ttC>ttT p.F231F KDM2A_ENST00000526258.1_Intron|KDM2A_ENST00000398645.2_Silent_p.F231F NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 231 JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 CACAGGTCTTCTGGCTCATCC 0.483000 7 33 0 0 0.307466 0 0 DNAH9 1770 broad.mit.edu 37 17 11631206 11631206 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:11631206C>T ENST00000262442.3 + 28 5849 c.5781C>T c.(5779-5781)atC>atT p.I1927I DNAH9_ENST00000454412.2_Silent_p.I1927I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1927 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTAATCGAATCTCCGTGGAGG 0.478000 23 69 0 0 0.624587 0 0 OR10A5 144124 broad.mit.edu 37 11 6867662 6867662 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:6867662C>G ENST00000299454.4 + 1 780 c.749C>G c.(748-750)tCt>tGt p.S250C OR10A5_ENST00000379831.2_Missense_Mutation_p.S254C Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTTGTTGTCTCTCTTTTCTAT 0.423000 102 310 0 0 0.870114 0 0 MYO7B 4648 broad.mit.edu 37 2 128366312 128366312 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:128366312G>A ENST00000389524.4 + 22 2726 c.2673G>A c.(2671-2673)caG>caA p.Q891Q MYO7B_ENST00000409816.2_Silent_p.Q891Q|MYO7B_ENST00000428314.1_Silent_p.Q891Q Q6PIF6 MYO7B_HUMAN myosin VIIB 891 apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CCGAGGGGCAGAAAAGCCAAG 0.657000 6 35 0 0 0.248553 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999220 27999220 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:27999220C>G ENST00000441525.1 - 1 346 c.232G>C c.(232-234)Gac>Cac p.D78H NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 78 Glu-rich. NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 AGTTCGACGTCTTCACTTGAA 0.488000 46 62 0 0 0.864702 0 0 PLEKHN1 84069 broad.mit.edu 37 1 909868 909868 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:909868C>T ENST00000379409.2 + 15 1935 c.1905C>T c.(1903-1905)ctC>ctT p.L635L PLEKHN1_ENST00000379407.2_Silent_p.L548L|PLEKHN1_ENST00000379410.3_Silent_p.L583L Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 635 central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) ACGACCACCTCTGGGACGAGA 0.647000 12 50 0 0 0.387290 0 0 ZNF746 155061 broad.mit.edu 37 7 149171704 149171704 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:149171704G>A ENST00000340622.3 - 7 1986 c.1706C>T c.(1705-1707)aCc>aTc p.T569I ZNF746_ENST00000458143.2_Missense_Mutation_p.T570I Q6NUN9 ZN746_HUMAN zinc finger protein 746 569 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GCCGCAGACGGTGCAGGTGAA 0.672000 5 20 0 0 0.217242 0 0 C1orf94 84970 broad.mit.edu 37 1 34667794 34667794 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:34667794C>G ENST00000488417.1 + 4 1500 c.1380C>G c.(1378-1380)ctC>ctG p.L460L C1orf94_ENST00000373374.3_Silent_p.L270L NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 270 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) ACCAGCCACTCTGGCTCAACC 0.522000 19 55 0 0 0.639603 0 0 CYP20A1 57404 broad.mit.edu 37 2 204143351 204143351 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:204143351G>T ENST00000356079.4 + 7 858 c.735G>T c.(733-735)agG>agT p.R245S CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R253S NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 245 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 GAAAAGGAAGGAACTTCAGTC 0.318000 6 41 1.6384e-10 1.7106e-10 0.248553 1 0 GPR98 84059 broad.mit.edu 37 5 89981767 89981767 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:89981767G>C ENST00000405460.2 + 29 6541 c.6445G>C c.(6445-6447)Gat>Cat p.D2149H NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2149 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGCATTTGCAGATGTCTCTGT 0.428000 6 29 0 0 0.217242 0 0 TRPA1 8989 broad.mit.edu 37 8 72942205 72942205 + Splice_Site SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:72942205C>G ENST00000262209.4 - 24 3076 c.e24-1 RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 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) CCAAACCAATCTGAAGTATGA 0.413000 22 75 0 0 0.624587 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105420410 105420410 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:105420410C>T ENST00000258494.9 - 22 2769 c.2629G>A c.(2629-2631)Gga>Aga p.G877R C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 877 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 AAAACAGTTCCTGCTTCCAGT 0.413000 6 288 0 0 0.217242 0 0 SPEG 10290 broad.mit.edu 37 2 220309772 220309772 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:220309772G>C ENST00000312358.7 + 3 836 c.704G>C c.(703-705)cGa>cCa p.R235P SPEG_ENST00000396698.1_Missense_Mutation_p.R131P|SPEG_ENST00000396695.2_Intron NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 235 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGGGCATCTCGAGCTAATCTG 0.701000 4 8 0 0 0.217242 0 0 SORBS2 8470 broad.mit.edu 37 4 186556511 186556511 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:186556511C>T ENST00000448662.2 - 11 1132 c.946G>A c.(946-948)Gag>Aag p.E316K SORBS2_ENST00000319471.9_Missense_Mutation_p.E386K|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000284776.7_Intron|SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000393528.3_Missense_Mutation_p.E321K|SORBS2_ENST00000437304.2_Missense_Mutation_p.E479K|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000418609.1_Intron|SORBS2_ENST00000498125.1_5'UTR NM_001145672.1 NP_001139144.1 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 228 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GTTTTTACCTCATTGAAAACA 0.418000 14 38 0 0 0.435327 0 0 SRRM1 10250 broad.mit.edu 37 1 24995948 24995948 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:24995948C>G ENST00000323848.9 + 14 2389 c.2074C>G c.(2074-2076)Cag>Gag p.Q692E SRRM1_ENST00000447431.2_Missense_Mutation_p.Q704E|SRRM1_ENST00000374389.4_Missense_Mutation_p.Q701E|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 692 Arg-rich.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TCGAGCTCCTCAGACCTCCTC 0.592000 11 34 0 0 0.361761 0 0 PRPF8 10594 broad.mit.edu 37 17 1586884 1586884 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:1586884C>T ENST00000572621.1 - 2 477 c.212G>A c.(211-213)cGa>cAa p.R71Q PRPF8_ENST00000304992.6_Missense_Mutation_p.R71Q Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 71 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TCCATGGTCTCGAATGATCTT 0.473000 59 160 0 0 0.870114 0 0 TFAP2B 7021 broad.mit.edu 37 6 50807940 50807940 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:50807940G>C ENST00000263046.4 + 7 1205 c.1039G>C c.(1039-1041)Gag>Cag p.E347Q TFAP2B_ENST00000393655.3_Missense_Mutation_p.E338Q Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 338 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AGCCGTCTCTGAGTATTTGAA 0.478000 98 174 0 0 0.870114 0 0 RNF17 56163 broad.mit.edu 37 13 25448363 25448363 + Nonsense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:25448363C>A ENST00000255324.5 + 33 4611 c.4559C>A c.(4558-4560)tCa>tAa p.S1520* RNF17_ENST00000381921.1_Nonsense_Mutation_p.S1478*|RNF17_ENST00000339524.3_Nonsense_Mutation_p.S530* NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1520 Tudor 4. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GATTATGGATCAACTGCAAAG 0.294000 18 86 3.52763e-06 3.63078e-06 0.520397 1 0 SUN1 23353 broad.mit.edu 37 7 912962 912962 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:912962C>G ENST00000456758.2 + 25 2919 c.2919C>G c.(2917-2919)gtC>gtG p.V973V SUN1_ENST00000413514.2_Silent_p.V582V|SUN1_ENST00000389574.3_Silent_p.V701V|SUN1_ENST00000425407.2_Silent_p.V701V|SUN1_ENST00000401592.1_Silent_p.V784V|SUN1_ENST00000405266.1_Silent_p.V821V|SUN1_ENST00000452783.2_Silent_p.V681V O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 811 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCGAACCTGTCAAGTGAAGAC 0.428000 OREG0017816 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 158 0 0 0.870114 0 0 HELZ 9931 broad.mit.edu 37 17 65156472 65156472 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:65156472G>A ENST00000358691.5 - 17 2248 c.2082C>T c.(2080-2082)ctC>ctT p.L694L HELZ_ENST00000580168.1_Silent_p.L695L NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GGGTGCAAATGAGAATCCTGC 0.358000 30 87 0 0 0.729181 0 0 LRBA 987 broad.mit.edu 37 4 151186875 151186875 + Nonstop_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:151186875C>A ENST00000535741.1 - 57 9031 c.8558G>T c.(8557-8559)tGa>tTa p.*2853L LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Nonstop_Mutation_p.*2864L|LRBA_ENST00000510413.1_Nonstop_Mutation_p.*2852L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 0 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) CTGTCACCATCAGTAGCGGGT 0.448000 13 25 4.3838e-07 4.52332e-07 0.435327 1 0 FAM115A 9747 broad.mit.edu 37 7 143573509 143573509 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:143573509C>T ENST00000479870.1 - 2 401 c.193G>A c.(193-195)Gag>Aag p.E65K FAM115A_ENST00000355951.2_Missense_Mutation_p.E65K|FAM115A_ENST00000392900.3_Intron NM_001206938.1|NM_001206941.1|NM_014719.2 NP_001193867.1|NP_001193870.1|NP_055534.1 Q9Y4C2 F115A_HUMAN family with sequence similarity 115, member A 65 NS(1)|endometrium(1)|lung(5) 7 Melanoma(164;0.0903) AAGTAGTCCTCATGGGACACG 0.587000 16 58 0 0 0.479597 0 0 FGF5 2250 broad.mit.edu 37 4 81188026 81188026 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:81188026C>T ENST00000456523.3 + 1 234 c.48C>T c.(46-48)ctC>ctT p.L16L FGF5_ENST00000312465.7_Silent_p.L16L NM_033143.2 NP_149134.1 P12034 FGF5_HUMAN fibroblast growth factor 5 16 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 fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 ACCTGATCCTCAGCGCCTGGG 0.612000 26 93 0 0 0.693898 0 0 TP53BP1 7158 broad.mit.edu 37 15 43699588 43699588 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:43699588G>A ENST00000263801.3 - 28 6164 c.5912C>T c.(5911-5913)tCt>tTt p.S1971F TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1926F|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1974F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1976F NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1971 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TCTTTAGTGAGAAACATAATC 0.413000 Other conserved DNA damage response genes 39 100 0 0 0.804634 0 0 HMHA1 23526 broad.mit.edu 37 19 1080711 1080711 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:1080711C>A ENST00000313093.2 + 16 2174 c.1943C>A c.(1942-1944)tCc>tAc p.S648Y HMHA1_ENST00000586866.1_Missense_Mutation_p.S652Y|HMHA1_ENST00000590577.1_Missense_Mutation_p.S283Y|HMHA1_ENST00000590214.1_Missense_Mutation_p.S675Y|HMHA1_ENST00000543365.1_Missense_Mutation_p.S531Y|HMHA1_ENST00000539243.2_Missense_Mutation_p.S664Y|HMHA1_ENST00000536472.1_Missense_Mutation_p.S516Y NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 648 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) CGGACGTCATCCAGTGGTACC 0.652000 18 64 8.28177e-16 8.75806e-16 0.557998 1 0 C9 735 broad.mit.edu 37 5 39364534 39364534 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:39364534G>C ENST00000263408.4 - 1 128 c.33C>G c.(31-33)atC>atG p.I11M C9_ENST00000509186.1_Intron NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 11 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CTAAAATGCAGATTGCAACTG 0.502000 26 116 0 0 0.706142 0 0 GRM4 2914 broad.mit.edu 37 6 33995958 33995958 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:33995958C>T ENST00000374181.3 - 9 2797 c.2628G>A c.(2626-2628)aaG>aaA p.K876K GRM4_ENST00000535756.1_Silent_p.K743K|GRM4_ENST00000544773.1_Silent_p.K707K|GRM4_ENST00000455714.2_Silent_p.K736K|GRM4_ENST00000374177.3_Silent_p.K760K|GRM4_ENST00000545715.1_Silent_p.K568K|GRM4_ENST00000538487.1_Silent_p.K876K NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 876 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GGAAGTTGCCCTTCTGCGTGA 0.637000 31 27 0 0 0.779181 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348753 140348753 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:140348753C>G ENST00000289269.5 + 1 2934 c.2402C>G c.(2401-2403)tCa>tGa p.S801* PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 801 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGCAGGCTCAGGGAGTGAC 0.552000 16 109 0 0 0.520397 0 0 TPTE 7179 broad.mit.edu 37 21 11014937 11014937 + Splice_Site SNP C C T rs76467559 by1000genomes TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:11014937C>T ENST00000415664.2 - 6 808 c.e6+1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAGCACAATACCTATCACATT 0.328000 3 54 0 0 0.150653 0 0 XRN1 54464 broad.mit.edu 37 3 142151555 142151555 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:142151555C>G ENST00000264951.4 - 2 373 c.256G>C c.(256-258)Gat>Cat p.D86H XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.D86H|XRN1_ENST00000463916.1_Missense_Mutation_p.D86H NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 86 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 GCCACACCATCTACAGCCATA 0.348000 25 47 0 0 0.667858 0 0 RPL10L 140801 broad.mit.edu 37 14 47120418 47120418 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:47120418C>T ENST00000298283.3 - 1 610 c.522G>A c.(520-522)acG>acA p.T174T NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 174 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 CATTAAACTTCGTGAAGCCCC 0.507000 106 77 0 0 0.870114 0 0 RNF6 6049 broad.mit.edu 37 13 26793630 26793630 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:26793630G>C ENST00000381588.4 - 3 909 c.157C>G c.(157-159)Cgg>Ggg p.R53G RNF6_ENST00000381570.3_Missense_Mutation_p.R53G|RNF6_ENST00000399762.2_De_novo_Start_InFrame|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.R53G NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 53 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) CTCATAAGCCGATAATCTTCA 0.383000 4 141 0 0 0.150653 0 0 DLX4 1748 broad.mit.edu 37 17 48050615 48050615 + Silent SNP C C T rs150742579 byFrequency TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:48050615C>T ENST00000240306.3 + 2 757 c.462C>T c.(460-462)ctC>ctT p.L154L DLX4_ENST00000411890.2_Silent_p.L82L NM_138281.2 NP_612138.1 Q92988 DLX4_HUMAN distal-less homeobox 4 154 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 CAGCGCAGCTCGGCCTCACCC 0.642000 16 33 0 0 0.539581 0 0 HNRNPR 10236 broad.mit.edu 37 1 23637048 23637048 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:23637048G>C ENST00000478691.1 - 10 1778 c.1507C>G c.(1507-1509)Cag>Gag p.Q503E HNRNPR_ENST00000302271.6_Missense_Mutation_p.Q601E|HNRNPR_ENST00000374612.1_Missense_Mutation_p.Q601E|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374616.3_Missense_Mutation_p.Q604E|HNRNPR_ENST00000427764.2_Missense_Mutation_p.Q563E|HNRNPR_ENST00000426846.2_Missense_Mutation_p.Q441E|HNRNPR_ENST00000606561.1_Missense_Mutation_p.Q462E NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 601 RNA-binding RGG-box. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) AGCGGCTGCTGAGCGATGGGT 0.478000 71 247 0 0 0.870114 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481696 27481696 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:27481696C>G ENST00000233535.4 - 2 554 c.202G>C c.(202-204)Gag>Cag p.E68Q SLC30A3_ENST00000447008.2_Missense_Mutation_p.E63Q NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 68 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCAGCCTCTCAGGGGTAAGG 0.622000 16 45 0 0 0.520397 0 0 SPDL1 54908 broad.mit.edu 37 5 169020507 169020507 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:169020507G>C ENST00000265295.4 + 4 765 c.486G>C c.(484-486)gaG>gaC p.E162D SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 p.E162D(1) TGTCTTCAGAGATGCTGGCTC 0.413000 26 108 0 0 0.681144 0 0 BRPF1 7862 broad.mit.edu 37 3 9783766 9783766 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:9783766C>T ENST00000383829.2 + 6 2316 c.1912C>T c.(1912-1914)Cgc>Tgc p.R638C BRPF1_ENST00000433861.2_Missense_Mutation_p.R638C|BRPF1_ENST00000302054.3_Missense_Mutation_p.R638C|BRPF1_ENST00000457855.1_Missense_Mutation_p.R638C|BRPF1_ENST00000424362.1_Missense_Mutation_p.R638C NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 638 Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CATCCTCCTTCGCAAAACCTT 0.522000 38 48 0 0 0.796494 0 0 UBR2 23304 broad.mit.edu 37 6 42626426 42626426 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:42626426G>C ENST00000372899.1 + 29 3364 c.3106G>C c.(3106-3108)Gag>Cag p.E1036Q UBR2_ENST00000372883.3_Missense_Mutation_p.Q543H|UBR2_ENST00000372901.1_Missense_Mutation_p.E1036Q NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1036 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GAGAAAAGCAGAGATTGCCAG 0.388000 37 83 0 0 0.812448 0 0 POLK 51426 broad.mit.edu 37 5 74892778 74892778 + Missense_Mutation SNP G G A rs143539365 byFrequency TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:74892778G>A ENST00000241436.4 + 13 2432 c.2260G>A c.(2260-2262)Gaa>Aaa p.E754K POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.E556K|POLK_ENST00000352007.5_Missense_Mutation_p.E556K|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.E664K NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 754 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) ATTGGAAAACGAAGATGTTGG 0.368000 DNA polymerases (catalytic subunits) 13 204 0 0 0.411799 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 R -> Q (in dbSNP:rs36204273). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 6 0 0 0.307466 0 0 ZNF560 147741 broad.mit.edu 37 19 9578057 9578057 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:9578057C>T ENST00000301480.4 - 10 1779 c.1566G>A c.(1564-1566)ggG>ggA p.G522G NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G522G(1) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TAAATGGTTTCCCACATTTGT 0.398000 47 156 0 0 0.853193 0 0 WNK4 65266 broad.mit.edu 37 17 40947774 40947774 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:40947774G>A ENST00000246914.5 + 16 3175 c.3154G>A c.(3154-3156)Gag>Aag p.E1052K NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1052 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GCTCACTTCAGAGAGCTCAGA 0.587000 31 66 0 0 0.788014 0 0 LVRN 206338 broad.mit.edu 37 5 115361749 115361749 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:115361749G>A ENST00000357872.4 + 20 3031 c.2907G>A c.(2905-2907)aaG>aaA p.K969K CTD-2287O16.3_ENST00000600981.3_Intron NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 969 proteolysis integral to membrane metallopeptidase activity|zinc ion binding AGACAATAAAGAATGAAAATC 0.433000 4 91 0 0 0.150653 0 0 WDR19 57728 broad.mit.edu 37 4 39233560 39233560 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:39233560C>T ENST00000399820.3 + 18 2280 c.2126C>T c.(2125-2127)tCc>tTc p.S709F WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Missense_Mutation_p.S549F NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 709 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 ATAGTGATGTCCTTGGAACAA 0.348000 29 78 0 0 0.750413 0 0 BRWD3 254065 broad.mit.edu 37 X 79999617 79999617 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:79999617C>T ENST00000373275.4 - 8 943 c.727G>A c.(727-729)Gat>Aat p.D243N NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 243 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 ACTACCTTATCACAGCTGCCT 0.443000 52 42 0 0 0.870114 0 0 DLC1 10395 broad.mit.edu 37 8 13356866 13356866 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:13356866C>T ENST00000276297.4 - 2 1124 c.715G>A c.(715-717)Gac>Aac p.D239N DLC1_ENST00000316609.5_Missense_Mutation_p.D239N|DLC1_ENST00000511869.1_Missense_Mutation_p.D239N NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 239 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TTAGGGGGGTCAGGTTTCCTT 0.398000 84 283 0 0 0.870114 0 0 IGHA1 3493 broad.mit.edu 37 14 106173649 106173649 + RNA SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:106173649C>T ENST00000390547.2 - 0 917 TGTCCCCCTTCTTCCAGTCCT 0.642000 56 98 0 0 0.870114 0 0 HAS3 3038 broad.mit.edu 37 16 69148601 69148601 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:69148601G>A ENST00000306560.1 + 4 1250 c.1094G>A c.(1093-1095)tGg>tAg p.W365* HAS3_ENST00000569188.1_Nonsense_Mutation_p.W365*|HAS3_ENST00000219322.3_Intron NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 365 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) TTCCGGGAGTGGCTCTACAAC 0.547000 4 183 0 0 0.150653 0 0 ZNF483 158399 broad.mit.edu 37 9 114304423 114304423 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:114304423C>G ENST00000309235.5 + 6 1366 c.1208C>G c.(1207-1209)tCa>tGa p.S403* ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 403 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 ATTAGAAGATCAACTCTTTCT 0.393000 71 156 0 0 0.870114 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098944 178098944 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:178098944C>G ENST00000397062.3 - 2 655 c.101G>C c.(100-102)cGa>cCa p.R34P NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18P|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18P|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18P NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 34 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R34Q(10)|p.R34P(2) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AAATACTTCTCGACTTACTCC 0.373000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 34 70 0 0 0.750413 0 0 ZNF22 7570 broad.mit.edu 37 10 45498928 45498928 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:45498928C>T ENST00000298299.3 + 2 705 c.112C>T c.(112-114)Cga>Tga p.R38* CEP164P1_ENST00000456938.2_RNA NM_006963.4 NP_008894.2 P17026 ZNF22_HUMAN zinc finger protein 22 38 odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|plasma membrane DNA binding|zinc ion binding p.R38*(1) NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2) 8 Prostate(175;0.0352)|all_neural(218;0.202) CATGACTATTCGATTTGACTC 0.453000 54 65 0 0 0.870114 0 0 C5orf38 153571 broad.mit.edu 37 5 2755246 2755246 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:2755246C>T ENST00000397835.4 + 3 437 c.437C>T c.(436-438)tCg>tTg p.S146L C5orf38_ENST00000334000.3_3'UTR Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 54 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) GGCTCGGGCTCGGGGTCTCCC 0.716000 9 38 0 0 0.387290 0 0 ABCB7 22 broad.mit.edu 37 X 74288934 74288934 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:74288934C>T ENST00000253577.3 - 12 1594 c.1570G>A c.(1570-1572)Gag>Aag p.E524K ABCB7_ENST00000339447.4_Missense_Mutation_p.E483K|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Missense_Mutation_p.E523K NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 523 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 TTTTGAGGCTCATAGAAGCGA 0.403000 70 61 0 0 0.870114 0 0 MYH7 4625 broad.mit.edu 37 14 23882971 23882971 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:23882971C>G ENST00000355349.3 - 39 5949 c.5787G>C c.(5785-5787)acG>acC p.T1929T NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1929 T -> M (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GACCCACCTTCGTGCCAATGT 0.592000 48 36 0 0 0.870114 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329668 88329668 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:88329668C>G ENST00000325089.6 + 2 2244 c.2025C>G c.(2023-2025)atC>atG p.I675M SLITRK5_ENST00000400028.3_Missense_Mutation_p.I434M NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 675 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGGTTTTCATCATGTCCGTCT 0.617000 14 61 0 0 0.435327 0 0 DARS2 55157 broad.mit.edu 37 1 173795878 173795878 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:173795878C>T ENST00000361951.4 + 2 908 c.181C>T c.(181-183)Cac>Tac p.H61Y DARS2_ENST00000239457.5_5'UTR NM_018122.4 NP_060592.2 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 61 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) GCGTTCGTCTCACTTAGGCCA 0.388000 18 134 0 0 0.575678 0 0 DGKK 139189 broad.mit.edu 37 X 50167295 50167295 + RNA SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:50167295C>G ENST00000376025.2 - 0 766 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CAGAAAATATCTAAGCTTCCA 0.403000 12 26 0 0 0.457914 0 0 CLEC18C 283971 broad.mit.edu 37 16 70211291 70211291 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:70211291G>C ENST00000569347.2 + 3 618 c.364G>C c.(364-366)Gaa>Caa p.E122Q CLEC18C_ENST00000536907.2_Missense_Mutation_p.E122Q|CLEC18C_ENST00000314151.8_Missense_Mutation_p.E122Q|CLEC18C_ENST00000541793.2_Missense_Mutation_p.E122Q|CLEC18C_ENST00000561612.1_Intron NM_173619.2 NP_775890.2 C-type lectin domain family 18, member C endometrium(3)|large_intestine(6)|lung(1) 10 GTCCTTTGTTGAAGTGGTCAG 0.647000 21 79 0 0 0.608945 0 0 BAG3 9531 broad.mit.edu 37 10 121436717 121436717 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:121436717C>T ENST00000369085.3 + 4 1957 c.1651C>T c.(1651-1653)Cag>Tag p.Q551* NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 551 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) AGAAACCCAGCAGCCAGAAGC 0.552000 31 52 0 0 0.740014 0 0 NDUFA2 4695 broad.mit.edu 37 5 140026901 140026901 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:140026901C>T ENST00000252102.4 - 2 349 c.148G>A c.(148-150)Gac>Aac p.D50N NDUFA2_ENST00000512088.1_Missense_Mutation_p.D50N NM_001185012.1|NM_002488.4 NP_001171941.1|NP_002479.1 O43678 NDUA2_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa 50 D -> N (in a breast cancer sample; somatic mutation). mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.D50N(1) breast(1)|endometrium(3)|large_intestine(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) NADH(DB00157) ATGGGTAGGTCGGGATTCGCC 0.662000 6 81 0 0 0.278610 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361538 70361538 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:70361538C>T ENST00000305107.6 - 1 88 c.42G>A c.(40-42)ctG>ctA p.L14L UGT2B4_ENST00000512583.1_Silent_p.L14L|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 14 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AGTAACAGCTCAGCTGTATCA 0.453000 83 228 0 0 0.870114 0 0 TBX20 57057 broad.mit.edu 37 7 35242187 35242187 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:35242187G>T ENST00000408931.3 - 8 1725 c.1199C>A c.(1198-1200)tCg>tAg p.S400* NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 400 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 GGCAATGGCCGATGGTGTCAG 0.562000 16 51 9.7654e-05 0.000100175 0.557998 1 0 PRSS12 8492 broad.mit.edu 37 4 119256647 119256647 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:119256647G>C ENST00000296498.3 - 3 1083 c.801C>G c.(799-801)gtC>gtG p.V267V NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 267 SRCR 1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 AGCTACACGTGACAGCAGCTG 0.403000 32 134 0 0 0.760397 0 0 PRDM4 11108 broad.mit.edu 37 12 108134781 108134781 + Silent SNP G G A rs145990889 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:108134781G>A ENST00000228437.5 - 10 2325 c.1866C>T c.(1864-1866)ttC>ttT p.F622F RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 622 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 CCTTGCTACAGAAATCACACT 0.458000 79 187 0 0 0.870114 0 0 TMED7 51014 broad.mit.edu 37 5 114961327 114961327 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:114961327G>C ENST00000456936.3 - 1 543 c.163C>G c.(163-165)Cag>Gag p.Q55E TMED7_ENST00000503010.1_Intron|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.Q55E|TICAM2_ENST00000408996.4_Missense_Mutation_p.Q55E|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.Q55E NM_181836.5 NP_861974.1 transmembrane emp24 protein transport domain containing 7 breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1) 6 all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05) TTGGTGCCCTGAGCGATGTCC 0.627000 11 31 0 0 0.411799 0 0 CEP170 9859 broad.mit.edu 37 1 243319598 243319598 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:243319598G>C ENST00000366542.1 - 14 3887 c.3836C>G c.(3835-3837)tCt>tGt p.S1279C CEP170_ENST00000481987.1_Missense_Mutation_p.S5C|CEP170_ENST00000366543.1_Missense_Mutation_p.S1145C|CEP170_ENST00000366544.1_Missense_Mutation_p.S1181C|CEP170_ENST00000490813.1_Missense_Mutation_p.S5C NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 1279 Targeting to centrosomes.|Targeting to microtubules. centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TTTGAATGAAGAACTAGTAGG 0.463000 3 20 0 0 0.150653 0 0 HSPB7 27129 broad.mit.edu 37 1 16344280 16344280 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:16344280G>A ENST00000311890.9 - 1 1005 c.179C>T c.(178-180)tCg>tTg p.S60L HSPB7_ENST00000487046.1_Missense_Mutation_p.S60L|HSPB7_ENST00000375718.4_Missense_Mutation_p.S135L|HSPB7_ENST00000411503.1_Missense_Mutation_p.S60L|HSPB7_ENST00000406363.2_Missense_Mutation_p.S60L|HSPB7_ENST00000545268.1_Missense_Mutation_p.S60L NM_014424.4 NP_055239.1 Q9UBY9 HSPB7_HUMAN heat shock 27kDa protein family, member 7 (cardiovascular) 60 Required for localization to SC35 splicing speckles. regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) CAGGGGCTCCGAGTGGGGCCG 0.687000 11 19 0 0 0.361761 0 0 ZNF683 257101 broad.mit.edu 37 1 26688267 26688267 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:26688267C>G ENST00000436292.1 - 7 1570 c.1450G>C c.(1450-1452)Gag>Cag p.E484Q ZNF683_ENST00000374204.1_Missense_Mutation_p.E464Q|ZNF683_ENST00000349618.3_Missense_Mutation_p.E464Q|ZNF683_ENST00000403843.1_Missense_Mutation_p.E484Q Q8IZ20 ZN683_HUMAN zinc finger protein 683 484 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) ATGTGTTTCTCAGATGCCACC 0.602000 35 127 0 0 0.804634 0 0 RNF17 56163 broad.mit.edu 37 13 25374667 25374667 + Missense_Mutation SNP A A C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:25374667A>C ENST00000255324.5 + 13 1805 c.1753A>C c.(1753-1755)Aat>Cat p.N585H RNF17_ENST00000381921.1_Missense_Mutation_p.N585H|RNF17_ENST00000255325.5_Missense_Mutation_p.N586H NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 585 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TGTTCCACAGAATTCAGTAAG 0.373000 4 84 0 0 0.184627 0 0 SLC5A9 200010 broad.mit.edu 37 1 48697260 48697260 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:48697260G>A ENST00000236495.5 + 7 779 c.729G>A c.(727-729)gtG>gtA p.V243V SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.V239V|SLC5A9_ENST00000438567.2_Silent_p.V218V NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 218 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 TGCAGACGGTGATCATGGTAG 0.542000 13 81 0 0 0.520397 0 0 TCEAL5 340543 broad.mit.edu 37 X 102528931 102528931 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:102528931C>G ENST00000372680.1 - 3 855 c.561G>C c.(559-561)gtG>gtC p.V187V NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TCACTCCCCTCACACCCCGTT 0.483000 49 63 0 0 0.870114 0 0 NLRP13 126204 broad.mit.edu 37 19 56423803 56423803 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:56423803G>A ENST00000588751.1 - 5 1404 c.1380C>T c.(1378-1380)ttC>ttT p.F460F NLRP13_ENST00000342929.3_Silent_p.F460F Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 460 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ACAAGTTGGAGAAAAAATAGG 0.507000 42 106 0 0 0.840704 0 0 FSTL1 11167 broad.mit.edu 37 3 120118774 120118774 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:120118774C>T ENST00000295633.3 - 10 1194 c.838G>A c.(838-840)Gag>Aag p.E280K FSTL1_ENST00000424703.2_Missense_Mutation_p.E245K NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 280 VWFC. BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) ATCTCCTCCTCTGTCTGGGTC 0.542000 11 20 0 0 0.457914 0 0 KCTD7 154881 broad.mit.edu 37 7 66248715 66248715 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:66248715G>A ENST00000380828.2 + 6 674 c.520G>A c.(520-522)Gaa>Aaa p.E174K RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E134K|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E147K|KCTD7_ENST00000510829.2_Missense_Mutation_p.E134K|KCTD7_ENST00000451741.2_Missense_Mutation_p.E134K|RABGEF1_ENST00000284957.5_Missense_Mutation_p.E134K|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E148K Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 0 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 AACCAGCATTGAAACGGATAG 0.393000 23 50 0 0 0.667858 0 0 APAF1 317 broad.mit.edu 37 12 99077046 99077046 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:99077046C>A ENST00000357310.1 + 15 2749 c.2172C>A c.(2170-2172)ttC>ttA p.F724L APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.F724L|APAF1_ENST00000550527.1_Missense_Mutation_p.F713L|APAF1_ENST00000549007.1_Missense_Mutation_p.F724L|APAF1_ENST00000547045.1_Missense_Mutation_p.F724L|APAF1_ENST00000359972.2_Missense_Mutation_p.F713L|APAF1_ENST00000339433.3_Missense_Mutation_p.F724L|APAF1_ENST00000333991.1_Intron NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 724 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) GTGACTGCTTCCTCAAAGTAA 0.378000 64 184 1.35869e-18 1.44302e-18 0.870114 1 0 NBN 4683 broad.mit.edu 37 8 90965508 90965508 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:90965508G>A ENST00000265433.3 - 11 1963 c.1809C>T c.(1807-1809)ttC>ttT p.F603F NBN_ENST00000409330.1_Silent_p.F521F NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 603 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) CTTCATCACTGAAAGTGTCAT 0.343000 Homologous recombination 67 262 0 0 0.870114 0 0 MIR519A1 574496 broad.mit.edu 37 19 54255684 54255684 + RNA SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:54255684C>G ENST00000385257.1 + 0 34 NR_030218.1 GAAGCGCTTTCTGTTGTCTGA 0.418000 63 171 0 0 0.870114 0 0 ST13 6767 broad.mit.edu 37 22 41226906 41226906 + Missense_Mutation SNP C C T rs148186652 byFrequency TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:41226906C>T ENST00000216218.3 - 9 1217 c.736G>A c.(736-738)Gag>Aag p.E246K NM_003932.3 NP_003923.2 P50502 F10A1_HUMAN suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 246 protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 TCTTTGATCTCTCGCTCTTCA 0.413000 32 130 0 0 0.740014 0 0 GPATCH2 55105 broad.mit.edu 37 1 217783737 217783737 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:217783737G>A ENST00000366935.3 - 5 1134 c.1024C>T c.(1024-1026)Caa>Taa p.Q342* GPATCH2_ENST00000366934.3_Nonsense_Mutation_p.Q342* NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 342 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) AGTCTAGCTTGGAAACCTGTA 0.348000 20 130 0 0 0.592651 0 0 GSK3B 2932 broad.mit.edu 37 3 119624670 119624670 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:119624670C>T ENST00000264235.8 - 7 1727 c.745G>A c.(745-747)Gag>Aag p.E249K GSK3B_ENST00000316626.5_Missense_Mutation_p.E249K NM_001146156.1|NM_002093.3 NP_001139628.1|NP_002084.2 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta 249 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) AGTAACAGCTCAGCCAACACA 0.388000 301 428 0 0 0.870114 0 0 RLF 6018 broad.mit.edu 37 1 40703619 40703619 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:40703619C>G ENST00000372771.4 + 8 3272 c.3245C>G c.(3244-3246)tCa>tGa p.S1082* NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1082 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) GGATCTTTCTCAGGGTCATTG 0.408000 47 186 0 0 0.864702 0 0 NFX1 4799 broad.mit.edu 37 9 33366762 33366762 + Missense_Mutation SNP A A T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:33366762A>T ENST00000379540.3 + 22 3237 c.3175A>T c.(3175-3177)Act>Tct p.T1059S NFX1_ENST00000463421.1_3'UTR NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 1059 R3H. inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) TGTGGTGGTCACTGCCATCAG 0.527000 14 20 0 0 0.520397 0 0 UGT1A7 54577 broad.mit.edu 37 2 234591192 234591192 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:234591192C>T ENST00000373426.3 + 1 609 c.609C>T c.(607-609)ttC>ttT p.F203F UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCATGACTTTCAAGGAGAGAG 0.428000 105 251 0 0 0.870114 0 0 KIAA0226 9711 broad.mit.edu 37 3 197420604 197420604 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:197420604C>T ENST00000273582.5 - 12 2178 c.1633G>A c.(1633-1635)Gat>Aat p.D545N KIAA0226_ENST00000389665.5_Missense_Mutation_p.D590N|KIAA0226_ENST00000296343.5_Missense_Mutation_p.D590N NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 590 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TCAAATTCATCAACCTCATCA 0.428000 25 108 0 0 0.667858 0 0 ADAM23 8745 broad.mit.edu 37 2 207413038 207413038 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:207413038C>T ENST00000264377.3 + 8 1155 c.827C>T c.(826-828)tCt>tTt p.S276F ADAM23_ENST00000374416.1_Missense_Mutation_p.S276F|ADAM23_ENST00000374415.3_Missense_Mutation_p.S276F NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 276 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) CCCTTTCTCTCTGAATTACAG 0.388000 32 86 0 0 0.788014 0 0 DEAF1 10522 broad.mit.edu 37 11 691546 691546 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:691546G>A ENST00000382409.3 - 2 826 c.342C>T c.(340-342)ttC>ttT p.F114F DEAF1_ENST00000338675.6_Silent_p.F114F NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 114 Ala-rich. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) CAGACGTGGTGAAGACATTGT 0.592000 15 42 0 0 0.500413 0 0 TMEM260 54916 broad.mit.edu 37 14 57052606 57052606 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:57052606C>G ENST00000261556.6 + 3 442 c.320C>G c.(319-321)tCa>tGa p.S107* TMEM260_ENST00000538838.1_Nonsense_Mutation_p.S107*|TMEM260_ENST00000536419.1_5'UTR NM_017799.3 NP_060269.3 transmembrane protein 260 GTAGCTGCATCATTACTTTTT 0.378000 141 129 0 0 0.870114 0 0 MYO15A 51168 broad.mit.edu 37 17 18077224 18077224 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:18077224C>A ENST00000205890.5 + 65 10818 c.10480C>A c.(10480-10482)Cag>Aag p.Q3494K MYO15A_ENST00000418233.3_Missense_Mutation_p.Q758K|MYO15A_ENST00000451725.2_Intron|RP11-258F1.1_ENST00000577847.1_RNA NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3494 FERM.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTTGCAGCTGCAGCTGGAGCA 0.662000 17 35 9.7654e-05 0.000100175 0.557998 1 0 DNAH10 196385 broad.mit.edu 37 12 124325980 124325980 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:124325980C>T ENST00000409039.3 + 29 4919 c.4894C>T c.(4894-4896)Cgg>Tgg p.R1632W NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1632 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.R224W(1)|p.R1632W(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GAAGATCTTGCGGGCTGAAGG 0.453000 5 247 0 0 0.217242 0 0 SSTR3 6753 broad.mit.edu 37 22 37603432 37603432 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:37603432C>G ENST00000328544.3 - 2 944 c.411G>C c.(409-411)atG>atC p.M137I SSTR3_ENST00000402501.1_Missense_Mutation_p.M137I NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 137 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 GGTCCACGCTCATGACAGTCA 0.667000 34 94 0 0 0.812448 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178771042 178771042 + Missense_Mutation SNP C C T rs150047440 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:178771042C>T ENST00000251582.7 - 2 361 c.260G>A c.(259-261)cGc>cAc p.R87H ADAMTS2_ENST00000274609.5_Missense_Mutation_p.R87H NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 87 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) GGCGGCCCTGCGGGCTCGTAC 0.697000 18 39 0 0 0.575678 0 0 ZSWIM1 90204 broad.mit.edu 37 20 44512005 44512005 + Silent SNP C C G rs116789871 by1000genomes TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:44512005C>G ENST00000372523.1 + 2 869 c.774C>G c.(772-774)ctC>ctG p.L258L ZSWIM1_ENST00000372520.1_Silent_p.L258L NM_080603.4 NP_542170.3 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 258 zinc ion binding breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 Myeloproliferative disorder(115;0.028) TCCAGAGCCTCGAGGTCACCA 0.572000 3 149 0 0 0.150653 0 0 DIP2B 57609 broad.mit.edu 37 12 51116990 51116990 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:51116990G>C ENST00000301180.5 + 27 3206 c.3172G>C c.(3172-3174)Gag>Cag p.E1058Q NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1058 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TGCAGGCATTGAGTTAATCGC 0.498000 48 171 0 0 0.870114 0 0 CALHM2 51063 broad.mit.edu 37 10 105209672 105209672 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:105209672G>A ENST00000393235.1 - 3 1224 c.27C>T c.(25-27)ttC>ttT p.F9F CALHM2_ENST00000369788.3_Silent_p.F9F|CALHM2_ENST00000260743.5_Silent_p.F9F|CALHM2_ENST00000494180.1_5'UTR Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 9 integral to membrane NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1) 11 ACAGGAAGCGGAAGTTCTCTG 0.577000 68 79 0 0 0.870114 0 0 ARID1A 8289 broad.mit.edu 37 1 27101074 27101074 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:27101074G>C ENST00000324856.7 + 18 4727 c.4356G>C c.(4354-4356)caG>caC p.Q1452H ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q1069H NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1452 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCGGCCCCCAGAACCAATTTC 0.587000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 4 159 0 0 0.248553 0 0 A2M 2 broad.mit.edu 37 12 9251338 9251338 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:9251338G>C ENST00000318602.7 - 15 2023 c.1716C>G c.(1714-1716)ttC>ttG p.F572L NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 572 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GTGATGGGCTGAAGCTCAAAT 0.532000 3 16 0 0 0.150653 0 0 OR10A5 144124 broad.mit.edu 37 11 6866955 6866955 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:6866955C>T ENST00000299454.4 + 1 73 c.42C>T c.(40-42)ctC>ctT p.L14L OR10A5_ENST00000379831.2_Silent_p.L18L Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AATTTATCCTCATGAGCTTCT 0.413000 7 484 0 0 0.248553 0 0 DNHD1 144132 broad.mit.edu 37 11 6587845 6587845 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:6587845G>C ENST00000254579.6 + 35 11799 c.11235G>C c.(11233-11235)ctG>ctC p.L3745L DNHD1_ENST00000527990.2_Silent_p.L3745L NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 3745 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TAAAGGGGCTGAATGTGTTGG 0.512000 9 28 0 0 0.361761 0 0 RXFP1 59350 broad.mit.edu 37 4 159568311 159568311 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:159568311G>A ENST00000307765.5 + 16 1965 c.1714G>A c.(1714-1716)Gaa>Aaa p.E572K RXFP1_ENST00000460056.2_Missense_Mutation_p.E491K|RXFP1_ENST00000448688.2_Missense_Mutation_p.E467K|RXFP1_ENST00000470033.1_Missense_Mutation_p.E539K|RXFP1_ENST00000343542.5_Missense_Mutation_p.E524K NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 572 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AGAAGATACAGAAAGTATTGG 0.333000 30 89 0 0 0.750413 0 0 FRAS1 80144 broad.mit.edu 37 4 79321968 79321968 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:79321968C>T ENST00000264895.6 + 30 4496 c.4056C>T c.(4054-4056)atC>atT p.I1352I FRAS1_ENST00000325942.6_Silent_p.I1352I NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1351 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCAACAGAATCTTACAGGCCG 0.458000 18 47 0 0 0.520397 0 0 LIMK1 3984 broad.mit.edu 37 7 73523309 73523309 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:73523309C>G ENST00000418310.1 + 10 1419 c.1317C>G c.(1315-1317)ctC>ctG p.L439L LIMK1_ENST00000538333.3_Silent_p.L375L|LIMK1_ENST00000336180.2_Silent_p.L409L P53667 LIMK1_HUMAN LIM domain kinase 1 409 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) ACAAGAGGCTCAACTTCATCA 0.622000 19 31 0 0 0.592651 0 0 DUSP18 150290 broad.mit.edu 37 22 31059444 31059444 + Missense_Mutation SNP G G A rs142285924 by1000genomes TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:31059444G>A ENST00000334679.3 - 2 1052 c.547C>T c.(547-549)Cgt>Tgt p.R183C DUSP18_ENST00000404885.1_Missense_Mutation_p.R183C|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.R183C|DUSP18_ENST00000403268.1_3'UTR NM_152511.3 NP_689724.3 Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 183 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.R183C(1) large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 ATCATCAAACGGACTTCCTTC 0.468000 16 79 0 0 0.479597 0 0 RINT1 60561 broad.mit.edu 37 7 105189098 105189098 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:105189098C>G ENST00000257700.2 + 7 1168 c.937C>G c.(937-939)Ctt>Gtt p.L313V NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 313 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GCTGACTCCTCTTCAGAAGAG 0.463000 5 349 0 0 0.184627 0 0 UBR5 51366 broad.mit.edu 37 8 103323529 103323529 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:103323529C>G ENST00000520539.1 - 20 3220 c.2614G>C c.(2614-2616)Gag>Cag p.E872Q UBR5_ENST00000521922.1_Missense_Mutation_p.E866Q|UBR5_ENST00000220959.4_Missense_Mutation_p.E872Q NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 872 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CAAATTACCTCTACAGCCATG 0.333000 36 154 0 0 0.819951 0 0 ZNF490 57474 broad.mit.edu 37 19 12721450 12721450 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:12721450G>C ENST00000311437.6 - 1 167 c.45C>G c.(43-45)ctC>ctG p.L15L ZNF490_ENST00000465656.1_Intron NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 CTTGCTCCTCGAGGGGTCGCT 0.567000 39 104 0 0 0.827153 0 0 GPBAR1 151306 broad.mit.edu 37 2 219127711 219127711 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:219127711C>G ENST00000522678.1 + 2 1132 c.264C>G c.(262-264)gtC>gtG p.V88V GPBAR1_ENST00000521462.1_Silent_p.V88V|GPBAR1_ENST00000519574.1_Silent_p.V88V|GPBAR1_ENST00000479077.1_Silent_p.V88V NM_001077191.1 NP_001070659.1 Q8TDU6 GPBAR_HUMAN G protein-coupled bile acid receptor 1 88 integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCTCCTCGTCTACTTGGCTC 0.632000 16 56 0 0 0.520397 0 0 DDI1 414301 broad.mit.edu 37 11 103908514 103908514 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:103908514G>A ENST00000302259.3 + 1 1207 c.964G>A c.(964-966)Gag>Aag p.E322K PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 322 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CTCCATACTTGAGGATCAACC 0.448000 47 156 0 0 0.853193 0 0 MUC17 140453 broad.mit.edu 37 7 100684033 100684033 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:100684033C>G ENST00000306151.4 + 3 9400 c.9336C>G c.(9334-9336)gtC>gtG p.V3112V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3112 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) GTGTGCCTGTCAGCACCACAC 0.493000 157 397 0 0 0.870114 0 0 SYNE1 23345 broad.mit.edu 37 6 152686067 152686067 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:152686067C>G ENST00000367255.5 - 63 10661 c.10060G>C c.(10060-10062)Gaa>Caa p.E3354Q SYNE1_ENST00000448038.1_Missense_Mutation_p.E3361Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3361Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3354Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3393Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3354 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) GGAATGCCTTCTGGAGAAGTA 0.438000 HNSCC(10;0.0054) 36 123 0 0 0.779181 0 0 DAPK1 1612 broad.mit.edu 37 9 90321338 90321338 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:90321338G>A ENST00000469640.2 + 27 3802 c.3427G>A c.(3427-3429)Gat>Aat p.D1143N DAPK1_ENST00000408954.3_Missense_Mutation_p.D1118N|DAPK1_ENST00000358077.5_Missense_Mutation_p.D1118N|DAPK1_ENST00000491893.1_Missense_Mutation_p.D1052N|DAPK1_ENST00000472284.1_Missense_Mutation_p.D1118N P53355 DAPK1_HUMAN death-associated protein kinase 1 1118 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CTCCTGGGCTGATGAGGAGGA 0.617000 Chronic Lymphocytic Leukemia, Familial Clustering of 10 33 0 0 0.387290 0 0 ERO1LB 56605 broad.mit.edu 37 1 236416724 236416724 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:236416724C>G ENST00000354619.5 - 3 505 c.304G>C c.(304-306)Gag>Cag p.E102Q ERO1LB_ENST00000327333.8_Missense_Mutation_p.E102Q NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) 102 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding p.E102K(1) NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TATTATACCTCTGGACAGGGC 0.383000 22 34 0 0 0.639603 0 0 MAP3K13 9175 broad.mit.edu 37 3 185200197 185200197 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:185200197G>C ENST00000265026.3 + 14 3188 c.2854G>C c.(2854-2856)Gat>Cat p.D952H MAP3K13_ENST00000443863.1_Missense_Mutation_p.D808H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D808H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D952H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D745H|TMEM41A_ENST00000475480.1_Intron NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 952 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GGAGTGTTCTGATGCCACAGT 0.433000 6 582 0 0 0.248553 0 0 ZSCAN16 80345 broad.mit.edu 37 6 28097416 28097416 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:28097416C>T ENST00000340487.4 + 4 884 c.735C>T c.(733-735)ttC>ttT p.F245F RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA NM_025231.1 NP_079507.1 Q9H4T2 ZSC16_HUMAN zinc finger and SCAN domain containing 16 245 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 GGAAAAGTTTCAGTCATAGCT 0.418000 44 52 0 0 0.840704 0 0 MPP5 64398 broad.mit.edu 37 14 67784156 67784156 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:67784156G>C ENST00000261681.4 + 11 1990 c.1329G>C c.(1327-1329)aaG>aaC p.K443N MPP5_ENST00000555925.1_Missense_Mutation_p.K409N|ATP6V1D_ENST00000553974.1_Intron NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) 443 tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) AGAATAAAAAGAAGAGGAAAA 0.338000 42 34 0 0 0.870114 0 0 EPG5 57724 broad.mit.edu 37 18 43534974 43534974 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:43534974C>T ENST00000282041.5 - 2 428 c.394G>A c.(394-396)Gta>Ata p.V132I NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 132 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GGGGTTTCTACTTTAGTTCCA 0.493000 46 89 0 0 0.870114 0 0 UBE3C 9690 broad.mit.edu 37 7 156931979 156931979 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:156931979G>A ENST00000348165.5 + 1 373 c.13G>A c.(13-15)Gaa>Aaa p.E5K UBE3C_ENST00000389103.4_Missense_Mutation_p.E5K NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 5 Cis-determinant of acceptor ubiquitin- binding. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) GTTCAGCTTCGAAGGCGACTT 0.766000 4 23 0 0 0.217242 0 0 DOCK9 23348 broad.mit.edu 37 13 99549807 99549807 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:99549807G>C ENST00000376460.1 - 15 1724 c.1644C>G c.(1642-1644)atC>atG p.I548M DOCK9_ENST00000442173.1_Missense_Mutation_p.I548M|DOCK9_ENST00000448493.2_Missense_Mutation_p.I560M|DOCK9_ENST00000339416.2_Missense_Mutation_p.I549M NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 549 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTTGCCTGTAGATGGCAGAAA 0.388000 57 275 0 0 0.870114 0 0 HSPA1B 3304 broad.mit.edu 37 6 31797593 31797593 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:31797593C>T ENST00000375650.3 + 1 2082 c.1866C>T c.(1864-1866)ttC>ttT p.F622F HSPA1B_ENST00000545241.1_Silent_p.F531F NM_005346.4 NP_005337.2 P08107 HSP71_HUMAN heat shock 70kDa protein 1B 622 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding breast(1)|large_intestine(1)|prostate(1) 3 CTGGCGGCTTCGGGGCTCAGG 0.587000 94 89 0 0 0.870114 0 0 PDE5A 8654 broad.mit.edu 37 4 120419875 120419875 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:120419875C>G ENST00000354960.3 - 21 2828 c.2509G>C c.(2509-2511)Gag>Cag p.E837Q PDE5A_ENST00000264805.5_Missense_Mutation_p.E795Q|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.E785Q NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 837 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding p.E837K(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AAACAGTCCTCTGACACGTGG 0.502000 50 138 0 0 0.870114 0 0 LRRC8D 55144 broad.mit.edu 37 1 90401042 90401042 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:90401042G>A ENST00000337338.5 + 3 2822 c.2415G>A c.(2413-2415)ctG>ctA p.L805L LRRC8D_ENST00000394593.3_Silent_p.L805L NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 805 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) AGCTGGAGCTGAAGGGGAACT 0.527000 37 64 0 0 0.812448 0 0 NBEAL2 23218 broad.mit.edu 37 3 47045664 47045664 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:47045664C>T ENST00000450053.3 + 37 6158 c.5979C>T c.(5977-5979)atC>atT p.I1993I NBEAL2_ENST00000292309.5_Silent_p.I1809I|NBEAL2_ENST00000383740.2_Silent_p.I272I NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1993 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TCTTCTTTATCGATCAGGCCA 0.602000 209 187 0 0 0.870114 0 0 STAR 6770 broad.mit.edu 37 8 38005783 38005783 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:38005783C>T ENST00000276449.4 - 3 687 c.241G>A c.(241-243)Gag>Aag p.E81K NM_000349.2 NP_000340.2 P49675 STAR_HUMAN steroidogenic acute regulatory protein 81 START. C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) TGCATGGCCTCCTCCCCCTGC 0.567000 23 39 0 0 0.639603 0 0 MST1 4485 broad.mit.edu 37 3 49723345 49723345 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:49723345G>A ENST00000449682.2 - 10 1559 c.1198C>T c.(1198-1200)Cgc>Tgc p.R400C MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 386 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACACCCTTGCGGGTCTTGCTG 0.731000 3 81 0 0 0.150653 0 0 PEX5L 51555 broad.mit.edu 37 3 179533749 179533749 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:179533749C>G ENST00000467460.1 - 10 1313 c.983G>C c.(982-984)gGa>gCa p.G328A PEX5L_ENST00000468741.1_Missense_Mutation_p.G136A|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.G304A|PEX5L_ENST00000464614.1_Missense_Mutation_p.G220A|PEX5L_ENST00000392649.3_Missense_Mutation_p.G220A|PEX5L_ENST00000263962.8_Missense_Mutation_p.G326A|PEX5L_ENST00000485199.1_Missense_Mutation_p.G293A|PEX5L_ENST00000476138.1_Missense_Mutation_p.G285A|PEX5L_ENST00000472994.1_Missense_Mutation_p.G269A NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 328 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TTCAAATGCTCCAGGCCAGTC 0.473000 24 213 0 0 0.639603 0 0 MUC16 94025 broad.mit.edu 37 19 9065271 9065271 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:9065271G>A ENST00000397910.4 - 3 22378 c.22175C>T c.(22174-22176)cCa>cTa p.P7392L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7394 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 CTGGGAAGATGGAGGGCTTGT 0.507000 27 52 0 0 0.693898 0 0 CILP 8483 broad.mit.edu 37 15 65499133 65499133 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:65499133G>A ENST00000261883.4 - 4 577 c.411C>T c.(409-411)ttC>ttT p.F137F NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 137 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GTGGGCAGAGGAAGCGTACGG 0.627000 67 160 0 0 0.870114 0 0 ZNF407 55628 broad.mit.edu 37 18 72343890 72343890 + Silent SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:72343890A>G ENST00000299687.5 + 1 915 c.915A>G c.(913-915)ccA>ccG p.P305P ZNF407_ENST00000577538.1_Silent_p.P305P|ZNF407_ENST00000309902.6_Silent_p.P305P|ZNF407_ENST00000582337.1_Silent_p.P305P NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 305 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) ACTCAAAACCAAGAACTTCTA 0.343000 46 67 0 0 0.859065 0 0 RSF1 51773 broad.mit.edu 37 11 77378293 77378293 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:77378293G>C ENST00000308488.6 - 16 4297 c.3995C>G c.(3994-3996)tCa>tGa p.S1332* RSF1_ENST00000360355.2_Nonsense_Mutation_p.S1301*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.S1080* Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1332 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CTCTTGTTCTGAGGGCAGGAC 0.522000 61 153 0 0 0.870114 0 0 CDK13 8621 broad.mit.edu 37 7 40134276 40134276 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:40134276C>T ENST00000181839.4 + 14 4841 c.4236C>T c.(4234-4236)ctC>ctT p.L1412L CDK13_ENST00000340829.5_Silent_p.L1352L NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 1412 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 ACATTTACCTCAATGCTGGTC 0.473000 82 235 0 0 0.870114 0 0 R3HDM4 91300 broad.mit.edu 37 19 900136 900136 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:900136G>C ENST00000361574.5 - 5 559 c.486C>G c.(484-486)gcC>gcG p.A162A R3HDM4_ENST00000587975.1_Silent_p.A141A NM_138774.3 NP_620129.2 Q96D70 CS022_HUMAN R3H domain containing 4 162 Arg-rich. nucleus nucleic acid binding GGGGTGTATAGGCGGGGTCCT 0.692000 25 42 0 0 0.654019 0 0 SDHA 6389 broad.mit.edu 37 5 228396 228396 + Missense_Mutation SNP G G C rs1041946 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:228396G>C ENST00000264932.6 + 6 833 c.718G>C c.(718-720)Gag>Cag p.E240Q SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 240 E -> Q (in dbSNP:rs1041946). nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity p.E240Q(2) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) ACTGTGCATAGAGGACGGGTC 0.418000 Familial Paragangliomas 4 134 0 0 0.217242 0 0 CHRNA6 8973 broad.mit.edu 37 8 42611623 42611623 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:42611623G>A ENST00000276410.2 - 5 1074 c.719C>T c.(718-720)cCg>cTg p.P240L CHRNA6_ENST00000534622.1_Missense_Mutation_p.P225L NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 240 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GTAAAACATCGGCAATCTTCT 0.368000 28 56 0 0 0.693898 0 0 DNAH9 1770 broad.mit.edu 37 17 11835355 11835355 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:11835355G>T ENST00000262442.3 + 64 12198 c.12130G>T c.(12130-12132)Gag>Tag p.E4044* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E3968*|DNAH9_ENST00000396001.2_Nonsense_Mutation_p.E356* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4044 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTGTTCTCGGGAGACGGAGTT 0.498000 119 385 1.74062e-63 1.89438e-63 0.870114 1 0 CYP20A1 57404 broad.mit.edu 37 2 204143376 204143376 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:204143376G>C ENST00000356079.4 + 7 883 c.760G>C c.(760-762)Gac>Cac p.D254H CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.D262H NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 254 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 TATTTTCATTGACTCCTTAGT 0.358000 6 40 0 0 0.248553 0 0 ODF2 4957 broad.mit.edu 37 9 131231605 131231605 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:131231605G>A ENST00000303890.5 + 7 906 c.321G>A c.(319-321)atG>atA p.M107I ODF2_ENST00000448249.3_Intron|ODF2_ENST00000434106.2_Missense_Mutation_p.M131I|ODF2_ENST00000372791.3_Missense_Mutation_p.M112I|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000444119.2_Missense_Mutation_p.M107I|ODF2_ENST00000546203.1_Missense_Mutation_p.M112I|ODF2_ENST00000372807.5_Missense_Mutation_p.M126I|ODF2_ENST00000351030.3_Missense_Mutation_p.M126I|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372796.4_Missense_Mutation_p.M131I|ODF2_ENST00000393533.2_Missense_Mutation_p.M131I|ODF2_ENST00000372814.3_Missense_Mutation_p.M175I NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 131 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 ATAGTCTAATGAATGCGGTTG 0.488000 51 205 0 0 0.870114 0 0 MYO16 23026 broad.mit.edu 37 13 109438029 109438029 + Missense_Mutation SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:109438029T>C ENST00000356711.2 + 5 614 c.488T>C c.(487-489)tTa>tCa p.L163S MYO16_ENST00000357550.2_Missense_Mutation_p.L163S|MYO16_ENST00000251041.5_Missense_Mutation_p.L163S|MYO16_ENST00000467639.1_3'UTR NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 163 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AATATCCCATTAGATTATGCT 0.333000 13 119 0 0 0.539581 0 0 CFLAR 8837 broad.mit.edu 37 2 202025277 202025277 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:202025277G>A ENST00000309955.2 + 9 1431 c.916G>A c.(916-918)Gac>Aac p.D306N CFLAR_ENST00000423241.2_Missense_Mutation_p.D306N|CFLAR_ENST00000443227.1_Missense_Mutation_p.D210N|CFLAR_ENST00000457277.1_Missense_Mutation_p.D306N|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000341582.6_Missense_Mutation_p.D271N|CFLAR_ENST00000479953.2_Missense_Mutation_p.D210N|CFLAR_ENST00000340870.5_Missense_Mutation_p.D306N NM_003879.5 NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 306 Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 CCGAGACTACGACAGCTTTGT 0.527000 61 219 0 0 0.870114 0 0 ADCY1 107 broad.mit.edu 37 7 45662289 45662289 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:45662289G>C ENST00000297323.7 + 4 989 c.967G>C c.(967-969)Gag>Cag p.E323Q ADCY1_ENST00000432715.1_Missense_Mutation_p.E98Q NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 323 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CACAGCCCAGGAGCTGGTGAA 0.507000 10 65 0 0 0.335167 0 0 HPS5 11234 broad.mit.edu 37 11 18318449 18318449 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:18318449G>C ENST00000396253.3 - 11 1526 c.1064C>G c.(1063-1065)tCc>tGc p.S355C HPS5_ENST00000438420.2_Missense_Mutation_p.S355C|HPS5_ENST00000531848.1_Missense_Mutation_p.S355C|HPS5_ENST00000349215.3_Missense_Mutation_p.S469C NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 469 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GCTGTGAAGGGAGCAAGAGTC 0.418000 Hermansky-Pudlak syndrome 64 181 0 0 0.870114 0 0 SKIV2L 6499 broad.mit.edu 37 6 31933627 31933627 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:31933627C>G ENST00000375394.2 + 18 2152 c.2039C>G c.(2038-2040)tCc>tGc p.S680C SKIV2L_ENST00000544581.1_Missense_Mutation_p.S487C NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 680 Helicase C-terminal. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GTGTTTGACTCCATGCGCAAA 0.587000 58 50 0 0 0.870114 0 0 SMTNL2 342527 broad.mit.edu 37 17 4498466 4498466 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:4498466C>T ENST00000389313.4 + 5 900 c.833C>T c.(832-834)tCg>tTg p.S278L SMTNL2_ENST00000338859.4_Missense_Mutation_p.S134L NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 278 breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) CCACCCCAGTCGCCCGTGTCC 0.677000 15 47 0 0 0.479597 0 0 C5orf66 100996485 broad.mit.edu 37 5 134678905 134678905 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:134678905G>A ENST00000432382.3 + 6 1009 c.187G>A c.(187-189)Gag>Aag p.E63K H2AFY_ENST00000312469.4_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000511689.1_Intron|CTC-203F4.1_ENST00000555438.1_Intron|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000512507.1_Intron|H2AFY_ENST00000423969.2_Intron NM_001277348.1 NP_001264277.1 TGTGTGCGCAGAGAGACACAC 0.532000 18 59 0 0 0.520397 0 0 SPRYD7 57213 broad.mit.edu 37 13 50489231 50489231 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:50489231C>G ENST00000378195.2 - 4 696 c.442G>C c.(442-444)Gaa>Caa p.E148Q SPRYD7_ENST00000361840.3_Missense_Mutation_p.E187Q NM_001127482.1 NP_001120954.1 Q5W111 SPRY7_HUMAN SPRY domain containing 7 187 B30.2/SPRY. haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2) 6 AATATTTTTTCAAAACCAGGT 0.279000 14 79 0 0 0.520397 0 0 MED17 9440 broad.mit.edu 37 11 93523943 93523943 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:93523943G>A ENST00000251871.3 + 3 908 c.621G>A c.(619-621)ctG>ctA p.L207L NM_004268.4 NP_004259.3 Q9NVC6 MED17_HUMAN mediator complex subunit 17 207 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCGGAGATCTGAGCTACAGAA 0.418000 16 69 0 0 0.500413 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24958901 24958901 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:24958901G>T ENST00000289968.6 - 14 1212 c.1143C>A c.(1141-1143)ttC>ttA p.F381L ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.F381L NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 381 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GCTTTGCAAGGAACTTGATCA 0.468000 20 98 1.40151e-16 1.48594e-16 0.592651 1 0 NSUN2 54888 broad.mit.edu 37 5 6632078 6632078 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:6632078C>G ENST00000264670.6 - 3 578 c.267G>C c.(265-267)gaG>gaC p.E89D NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Intron NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 89 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 AATGGAGAATCTCTTTTGCGT 0.353000 58 244 0 0 0.870114 0 0 LHFP 10186 broad.mit.edu 37 13 40174981 40174981 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:40174981G>C ENST00000379589.3 - 2 835 c.373C>G c.(373-375)Cag>Gag p.Q125E NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 125 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) CCAAGAAACTGAATTCCTCCA 0.483000 T HMGA2 lipoma 30 76 0 0 0.717897 0 0 WWC1 23286 broad.mit.edu 37 5 167812224 167812224 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:167812224C>G ENST00000265293.4 + 3 740 c.238C>G c.(238-240)Cag>Gag p.Q80E WWC1_ENST00000521089.1_Missense_Mutation_p.Q80E NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 80 WW 2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AGAAACCACTCAGATTGAGGA 0.507000 19 40 0 0 0.667858 0 0 RBM5 10181 broad.mit.edu 37 3 50145726 50145726 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:50145726C>G ENST00000347869.3 + 14 1356 c.1181C>G c.(1180-1182)tCa>tGa p.S394* RBM5_ENST00000441812.2_3'UTR NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 394 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTGATGCATCATCTGCATCA 0.373000 61 85 0 0 0.870114 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111927983 111927983 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:111927983C>T ENST00000375741.2 + 13 1690 c.1440C>T c.(1438-1440)gtC>gtT p.V480V ARHGEF7_ENST00000375723.1_Silent_p.V302V|ARHGEF7_ENST00000317133.5_Silent_p.V459V|ARHGEF7_ENST00000478679.1_Silent_p.V224V|ARHGEF7_ENST00000375736.4_Silent_p.V302V|ARHGEF7_ENST00000375739.2_Silent_p.V430V|ARHGEF7_ENST00000375737.5_Silent_p.V377V|ARHGEF7_ENST00000544132.1_Silent_p.V136V|ARHGEF7_ENST00000370623.3_Silent_p.V387V|ARHGEF7_ENST00000218789.5_Silent_p.V302V|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000426073.2_Silent_p.V302V NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 480 PH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TGGGCAACGTCACTTACATGT 0.537000 4 216 0 0 0.184627 0 0 RAD23A 5886 broad.mit.edu 37 19 13060211 13060211 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:13060211C>G ENST00000586534.1 + 7 863 c.802C>G c.(802-804)Cag>Gag p.Q268E RAD23A_ENST00000541222.1_Missense_Mutation_p.Q103E|RAD23A_ENST00000316856.3_Missense_Mutation_p.Q267E|RAD23A_ENST00000592268.1_Missense_Mutation_p.Q268E|RAD23A_ENST00000588826.2_3'UTR P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 268 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 GGAGAACCCTCAGCTTTTACA 0.612000 Nucleotide excision repair (NER) 35 128 0 0 0.769981 0 0 TENM2 57451 broad.mit.edu 37 5 167627019 167627019 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:167627019G>T ENST00000519204.1 + 16 3068 c.2950G>T c.(2950-2952)Gtc>Ttc p.V984F TENM2_ENST00000518659.1_Missense_Mutation_p.V1105F|TENM2_ENST00000520394.1_Missense_Mutation_p.V873F|TENM2_ENST00000545108.1_Missense_Mutation_p.V1105F|TENM2_ENST00000403607.2_Missense_Mutation_p.V929F teneurin transmembrane protein 2 GATGGTGGCTGTCGAGGGGCA 0.537000 18 64 1.02788e-11 1.07409e-11 0.520397 1 0 COBL 23242 broad.mit.edu 37 7 51095705 51095705 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:51095705G>C ENST00000395542.2 - 12 3518 c.3334C>G c.(3334-3336)Cag>Gag p.Q1112E COBL_ENST00000265136.7_Missense_Mutation_p.Q1030E O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1030 WH2 1. NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTGCAGGCCTGAGTGTCAGAT 0.622000 29 80 0 0 0.750413 0 0 SNW1 22938 broad.mit.edu 37 14 78184606 78184606 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:78184606G>C ENST00000261531.7 - 14 1498 c.1436C>G c.(1435-1437)tCt>tGt p.S479C SLIRP_ENST00000557623.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.S317C|SNW1_ENST00000555761.1_Missense_Mutation_p.L506V NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 479 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GTCTGAACCAGAAAACTCCTT 0.428000 9 445 0 0 0.335167 0 0 ZBTB48 3104 broad.mit.edu 37 1 6648384 6648384 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:6648384C>T ENST00000377674.4 + 9 1721 c.1563C>T c.(1561-1563)ttC>ttT p.F521F NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 521 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) AAAGGCCCTTCAGTTGCGAGT 0.642000 26 58 0 0 0.740014 0 0 ZNF536 9745 broad.mit.edu 37 19 30936498 30936498 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:30936498G>A ENST00000355537.3 + 2 2176 c.2029G>A c.(2029-2031)Gac>Aac p.D677N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 677 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTCGGGCAGTGACCAGGAGTC 0.706000 15 34 0 0 0.457914 0 0 KLRB1 3820 broad.mit.edu 37 12 9751250 9751250 + Splice_Site SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:9751250C>G ENST00000229402.3 - 4 306 c.e4-1 NM_002258.2 NP_002249.1 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, member 1 cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|large_intestine(6)|lung(4) 12 CCCGGTCTCTCTAAAGTAAAA 0.378000 50 112 0 0 0.870114 0 0 MUC16 94025 broad.mit.edu 37 19 9057827 9057827 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:9057827G>C ENST00000397910.4 - 3 29822 c.29619C>G c.(29617-29619)ttC>ttG p.F9873L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9875 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 GAGTCAATGAGAATGTTGGCT 0.483000 3 164 0 0 0.115264 0 0 DHX57 90957 broad.mit.edu 37 2 39053158 39053158 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:39053158C>G ENST00000295373.6 - 16 2971 c.2845G>C c.(2845-2847)Gag>Cag p.E949Q NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 949 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) AAGGTGTCCTCTAGACTTTCC 0.408000 21 77 0 0 0.624587 0 0 ABCA1 19 broad.mit.edu 37 9 107578492 107578492 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:107578492C>T ENST00000374736.3 - 25 4064 c.3670G>A c.(3670-3672)Gag>Aag p.E1224K NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1224 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCATCAATCTCATGAAAGAGT 0.493000 100 252 0 0 0.870114 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542513 133542513 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:133542513C>G ENST00000409261.1 - 14 2244 c.1871G>C c.(1870-1872)gGa>gCa p.G624A NCKAP5_ENST00000317721.6_Missense_Mutation_p.G624A|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 624 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TAGAGATTTTCCAAACCCCAC 0.473000 18 76 0 0 0.539581 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221527 10221527 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:10221527G>A ENST00000428358.1 + 11 1358 c.1186G>A c.(1186-1188)Gag>Aag p.E396K PPAN_ENST00000253107.7_Missense_Mutation_p.E396K|PPAN_ENST00000556468.1_Missense_Mutation_p.E396K|PPAN_ENST00000393793.1_Missense_Mutation_p.E343K|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E396K NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 396 RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GGCGGTGGGCGAGGCGCCCAG 0.612000 57 210 0 0 0.870114 0 0 PPL 5493 broad.mit.edu 37 16 4940880 4940880 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:4940880C>T ENST00000345988.2 - 17 2100 c.2011G>A c.(2011-2013)Gag>Aag p.E671K PPL_ENST00000590782.2_Missense_Mutation_p.E669K NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 671 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGCTCCACCTCACCCAGGAGG 0.677000 4 6 0 0 0.150653 0 0 FAM184A 79632 broad.mit.edu 37 6 119345573 119345573 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:119345573C>G ENST00000338891.7 - 2 1008 c.565G>C c.(565-567)Gac>Cac p.D189H FAM184A_ENST00000368475.4_Missense_Mutation_p.D69H|FAM184A_ENST00000352896.5_Missense_Mutation_p.D69H|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.D69H|FAM184A_ENST00000521531.1_Missense_Mutation_p.D189H NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 189 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 GCTTGCAAGTCTTCCAATGCC 0.418000 46 198 0 0 0.870114 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498777 73498777 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:73498777C>T ENST00000321617.3 - 18 2964 c.2378G>A c.(2377-2379)cGa>cAa p.R793Q CASKIN2_ENST00000433559.2_Missense_Mutation_p.R711Q NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 793 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCGCTTAGGTCGAGGCGGGTC 0.716000 5 17 0 0 0.217242 0 0 DDX58 23586 broad.mit.edu 37 9 32500912 32500912 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:32500912C>A ENST00000379883.2 - 2 289 c.132G>T c.(130-132)gaG>gaT p.E44D DDX58_ENST00000379882.1_Intron|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000542096.1_5'UTR|DDX58_ENST00000379868.1_5'UTR NM_014314.3 NP_055129.2 O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 44 CARD 1. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) TGTTGTTTTTCTCAGCCTGAA 0.438000 8 95 0.00307968 0.0031305 0.278610 1 0 PPM1E 22843 broad.mit.edu 37 17 57058095 57058095 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:57058095C>G ENST00000308249.2 + 7 2100 c.1971C>G c.(1969-1971)ttC>ttG p.F657L NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 666 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ATGAACAGTTCAAATCCCCGG 0.423000 92 283 0 0 0.870114 0 0 CNGB3 54714 broad.mit.edu 37 8 87616352 87616352 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:87616352G>C ENST00000320005.5 - 15 1797 c.1750C>G c.(1750-1752)Ctg>Gtg p.L584V NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 584 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CCAGCTTTCAGAGTAACCAGA 0.368000 24 101 0 0 0.681144 0 0 WNK2 65268 broad.mit.edu 37 9 96055302 96055302 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:96055302C>T ENST00000297954.4 + 23 5666 c.5666C>T c.(5665-5667)tCg>tTg p.S1889L WNK2_ENST00000427277.2_Missense_Mutation_p.S1464L|WNK2_ENST00000356055.3_Splice_Site_p.S214_splice|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.S1852L|WNK2_ENST00000349097.3_Missense_Mutation_p.S1501L Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1889 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CGGGCCGGCTCGCTGGGCCCC 0.652000 19 28 0 0 0.592651 0 0 TLE4 7091 broad.mit.edu 37 9 82323642 82323642 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:82323642C>G ENST00000376520.4 + 14 2128 c.1300C>G c.(1300-1302)Cag>Gag p.Q434E TLE4_ENST00000376544.3_Missense_Mutation_p.Q333E|TLE4_ENST00000376552.2_Missense_Mutation_p.Q402E|TLE4_ENST00000265284.6_Missense_Mutation_p.Q377E|TLE4_ENST00000376534.4_Missense_Mutation_p.Q39E|TLE4_ENST00000376537.4_Missense_Mutation_p.Q434E O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CATCTCCCCTCAGATGAGCGC 0.572000 19 41 0 0 0.557998 0 0 PLP1 5354 broad.mit.edu 37 X 103041593 103041593 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:103041593C>G ENST00000418604.1 + 4 671 c.391C>G c.(391-393)Caa>Gaa p.Q131E PLP1_ENST00000303958.2_Missense_Mutation_p.Q131E|PLP1_ENST00000361621.2_Intron NM_001128834.1 NP_001122306.1 P60201 MYPR_HUMAN proteolipid protein 1 131 Missing (in HLD1). cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 AGGCCAACATCAAGCTCATTC 0.542000 89 87 0 0 0.870114 0 0 MYH10 4628 broad.mit.edu 37 17 8457276 8457276 + Missense_Mutation SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:8457276T>C ENST00000360416.3 - 8 955 c.817A>G c.(817-819)Aca>Gca p.T273A MYH10_ENST00000269243.4_Missense_Mutation_p.T263A|MYH10_ENST00000396239.1_Missense_Mutation_p.T263A|MYH10_ENST00000379980.4_Missense_Mutation_p.T279A NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 263 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 AGGATACATGTTTCAATGTTG 0.338000 105 96 0 0 0.870114 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803537 142803537 + RNA SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:142803537G>T ENST00000423385.1 - 0 1428 AATAGATGTTGGAATTCCTGA 0.274000 4 214 0.00024832 0.000254306 0.150653 1 0 LRP1 4035 broad.mit.edu 37 12 57601825 57601825 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:57601825C>T ENST00000243077.3 + 77 12330 c.11864C>T c.(11863-11865)tCa>tTa p.S3955L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3955 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ATTCAGATTTCAGGGCTGAAG 0.602000 13 27 0 0 0.411799 0 0 UGT2A1 10941 broad.mit.edu 37 4 70512724 70512724 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:70512724G>C ENST00000503640.1 - 1 694 c.639C>G c.(637-639)ttC>ttG p.F213L UGT2A1_ENST00000514019.1_Missense_Mutation_p.F213L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.F213L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.F213L NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 213 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 GGTAGGAGATGAAATTTCTTA 0.368000 35 124 0 0 0.804634 0 0 SCN11A 11280 broad.mit.edu 37 3 38888746 38888746 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:38888746C>A ENST00000450244.1 - 26 5013 c.4815G>T c.(4813-4815)gaG>gaT p.E1605D SCN11A_ENST00000456224.3_Missense_Mutation_p.E1567D|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1605D Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1605 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TATTGAAGTTCTCTAAAATCA 0.408000 5 164 0.184627 0.186291 0.184627 1 0 PEG10 23089 broad.mit.edu 37 7 94293385 94293385 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:94293385C>T ENST00000482108.1 + 2 996 c.517C>T c.(517-519)Cgc>Tgc p.R173C PEG10_ENST00000488574.1_Missense_Mutation_p.R173C NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 173 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.R173C(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CAAGATCAGACGCCTGCGCCA 0.527000 61 229 0 0 0.870114 0 0 CILP 8483 broad.mit.edu 37 15 65489713 65489713 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:65489713G>A ENST00000261883.4 - 9 3077 c.2911C>T c.(2911-2913)Cgc>Tgc p.R971C NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 971 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CCCATGTTGCGGGATCGCACA 0.562000 31 122 0 0 0.729181 0 0 CFTR 1080 broad.mit.edu 37 7 117243763 117243763 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:117243763G>A ENST00000003084.6 + 17 2967 c.2835G>A c.(2833-2835)tcG>tcA p.S945S CFTR_ENST00000454343.1_Silent_p.S884S NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 945 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding p.S945S(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TCACAGTGTCGAAAATTTTAC 0.398000 Cystic Fibrosis 49 118 0 0 0.870114 0 0 SIK3 23387 broad.mit.edu 37 11 116730264 116730264 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:116730264G>A ENST00000375300.1 - 19 2343 c.2338C>T c.(2338-2340)Cag>Tag p.Q780* SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q621*|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q722*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.Q117*|SIK3_ENST00000292055.4_Nonsense_Mutation_p.Q722*|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q780* Q9Y2K2 SIK3_HUMAN SIK family kinase 3 722 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 TCAGGTTGCTGCTGAAAGATT 0.552000 OREG0003491 type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 29 104 0 0 0.740014 0 0 TBC1D3B 414059 broad.mit.edu 37 17 34499237 34499237 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:34499237G>A ENST00000454519.3 - 7 623 c.474C>T c.(472-474)ttC>ttT p.F158F TBC1D3B_ENST00000398801.3_Silent_p.F158F|CTB-91J4.1_ENST00000592460.1_RNA NM_001001417.5 NP_001001417.5 A6NDS4 TBC3B_HUMAN TBC1 domain family, member 3B 158 Rab-GAP TBC. intracellular Rab GTPase activator activity endometrium(2)|lung(3)|pancreas(1) 6 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GATCCCTGAAGAACATATGCT 0.567000 55 734 0 0 0.870114 0 0 CTTN 2017 broad.mit.edu 37 11 70253636 70253636 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:70253636G>A ENST00000301843.8 + 4 306 c.100G>A c.(100-102)Gag>Aag p.E34K CTTN_ENST00000376561.3_Missense_Mutation_p.E34K|CTTN_ENST00000527622.1_3'UTR|CTTN_ENST00000346329.3_Missense_Mutation_p.E34K NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 34 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) TGATGTGAGTGAGAAGGAGCA 0.552000 34 135 0 0 0.812448 0 0 MRAP 56246 broad.mit.edu 37 21 33671366 33671366 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:33671366G>A ENST00000399784.2 + 3 271 c.84G>A c.(82-84)gaG>gaA p.E28E MRAP_ENST00000399786.3_Silent_p.E28E|MRAP_ENST00000303645.5_Silent_p.E28E|MRAP_ENST00000339944.4_Silent_p.E28E|MRAP_ENST00000497833.1_Intron NM_178817.3 NP_848932.1 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 28 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding endometrium(1)|large_intestine(2)|lung(3) 6 CCGTGGACGAGAAGAAGCTGA 0.577000 16 26 0 0 0.539581 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119236098 119236098 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:119236098G>C ENST00000494664.1 + 6 845 c.643G>C c.(643-645)Gag>Cag p.E215Q TIMMDC1_ENST00000493694.1_Missense_Mutation_p.E81Q NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 215 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 GTACTCTGGTGAGACTGTTCA 0.468000 6 188 0 0 0.248553 0 0 HIPK1 204851 broad.mit.edu 37 1 114483834 114483834 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:114483834G>C ENST00000369558.1 + 2 1061 c.829G>C c.(829-831)Gat>Cat p.D277H HIPK1_ENST00000369559.4_Missense_Mutation_p.D277H|HIPK1_ENST00000369561.4_Missense_Mutation_p.D277H|HIPK1_ENST00000426820.2_Missense_Mutation_p.D277H|HIPK1_ENST00000369554.2_Missense_Mutation_p.D277H|HIPK1_ENST00000369555.2_Missense_Mutation_p.D277H Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 277 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAACTTATATGATTTTCTAAA 0.408000 33 61 0 0 0.760397 0 0 VPS13B 157680 broad.mit.edu 37 8 100654191 100654191 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:100654191G>T ENST00000358544.2 + 34 5559 c.5448G>T c.(5446-5448)caG>caT p.Q1816H VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q1791H NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1816 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GTGCCAGTCAGCATCGCATTG 0.413000 25 152 1.68575e-08 1.74819e-08 0.717897 1 0 CD180 4064 broad.mit.edu 37 5 66479408 66479408 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:66479408C>G ENST00000256447.4 - 3 1420 c.1263G>C c.(1261-1263)caG>caC p.Q421H NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 421 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) GGAGTTCTAGCTGAGGACATT 0.458000 78 221 0 0 0.870114 0 0 ATP2C1 27032 broad.mit.edu 37 3 130686024 130686024 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:130686024G>C ENST00000510168.1 + 15 1708 c.1158G>C c.(1156-1158)gtG>gtC p.V386V ATP2C1_ENST00000359644.3_Silent_p.V386V|ATP2C1_ENST00000507488.2_Silent_p.V370V|ATP2C1_ENST00000428331.2_Silent_p.V386V|ATP2C1_ENST00000504948.1_Silent_p.V370V|ATP2C1_ENST00000504381.1_Silent_p.V331V|ATP2C1_ENST00000505330.1_Silent_p.V370V|ATP2C1_ENST00000422190.2_Silent_p.V386V|ATP2C1_ENST00000328560.8_Silent_p.V386V|ATP2C1_ENST00000508532.1_Silent_p.V386V|ATP2C1_ENST00000393221.4_Silent_p.V420V|ATP2C1_ENST00000513801.1_Silent_p.V370V|ATP2C1_ENST00000533801.2_Silent_p.V381V P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 386 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TTGGGGAAGTGATTGTTGATG 0.358000 Hailey-Hailey disease 99 495 0 0 0.870114 0 0 KRT33A 3883 broad.mit.edu 37 17 39503388 39503388 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:39503388C>G ENST00000007735.3 - 4 719 c.675G>C c.(673-675)ctG>ctC p.L225L NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 225 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) TGGTCTCATTCAGGACCTGGT 0.597000 32 75 0 0 0.740014 0 0 PKHD1 5314 broad.mit.edu 37 6 51938280 51938280 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:51938280C>T ENST00000371117.3 - 7 783 c.508G>A c.(508-510)Gat>Aat p.D170N PKHD1_ENST00000340994.4_Missense_Mutation_p.D170N NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 170 IPT/TIG 2. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TACTCAGCATCAAAATCAAAA 0.358000 83 144 0 0 0.870114 0 0 AP2B1 163 broad.mit.edu 37 17 33951593 33951593 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:33951593C>T ENST00000262325.7 + 6 1256 c.703C>T c.(703-705)Cgg>Tgg p.R235W AP2B1_ENST00000312678.8_Missense_Mutation_p.R235W|AP2B1_ENST00000537622.2_Missense_Mutation_p.R235W|AP2B1_ENST00000589344.1_Missense_Mutation_p.R235W|AP2B1_ENST00000592545.1_Missense_Mutation_p.R197W|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Missense_Mutation_p.R178W NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 235 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TAAAGATGATCGGGAGGCTCA 0.448000 28 99 0 0 0.769981 0 0 FER1L6 654463 broad.mit.edu 37 8 125131944 125131944 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:125131944C>G ENST00000522917.1 + 41 5693 c.5487C>G c.(5485-5487)ttC>ttG p.F1829L FER1L6_ENST00000399018.1_Missense_Mutation_p.F1829L|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1829 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) tcattgctttcattctcatca 0.478000 62 270 0 0 0.870114 0 0 CES5A 221223 broad.mit.edu 37 16 55899899 55899899 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:55899899C>T ENST00000521992.1 - 6 913 c.768G>A c.(766-768)gcG>gcA p.A256A CES5A_ENST00000319165.9_Silent_p.A227A|CES5A_ENST00000290567.9_Silent_p.A227A|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Silent_p.A197A|CES5A_ENST00000518005.1_Silent_p.A121A NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 227 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TTATGGCTCCCGCGGACTCGC 0.512000 12 38 0 0 0.435327 0 0 ZNF829 374899 broad.mit.edu 37 19 37383092 37383092 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:37383092G>A ENST00000520965.1 - 6 910 c.844C>T c.(844-846)Cga>Tga p.R282* ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Nonsense_Mutation_p.R201* NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTCTGATGTCGAGTAACGAGT 0.373000 23 101 0 0 0.624587 0 0 CDC27 996 broad.mit.edu 37 17 45214545 45214545 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:45214545C>T ENST00000066544.3 - 14 1979 c.1886G>A c.(1885-1887)aGa>aAa p.R629K CDC27_ENST00000527547.1_Missense_Mutation_p.R628K|CDC27_ENST00000531206.1_Missense_Mutation_p.R635K|CDC27_ENST00000446365.2_Missense_Mutation_p.R568K NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 629 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 AGGATTGACTCTGATAGCATT 0.348000 11 50 0 0 0.387290 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456015 5456015 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:5456015G>A ENST00000222033.4 + 1 590 c.513G>A c.(511-513)aaG>aaA p.K171K NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 171 PA. integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) TCGACCTCAAGGTGCTGAACG 0.667000 19 62 0 0 0.706142 0 0 SRRM2 23524 broad.mit.edu 37 16 2814163 2814163 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:2814163G>C ENST00000301740.8 + 11 4183 c.3634G>C c.(3634-3636)Gaa>Caa p.E1212Q NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1212 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 CCCGCCAAGGGAAAGAAGTGG 0.453000 68 150 0 0 0.870114 0 0 HTR3C 170572 broad.mit.edu 37 3 183777427 183777427 + Splice_Site SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:183777427C>T ENST00000318351.1 + 7 958 c.925_splice c.e7+1 p.I308_splice NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 308 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CCCCCCTCATCAGTATGGCTC 0.587000 47 353 0 0 0.870114 0 0 BTNL8 79908 broad.mit.edu 37 5 180338384 180338384 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:180338384G>C ENST00000231229.4 + 3 677 c.443G>C c.(442-444)aGa>aCa p.R148T BTNL8_ENST00000400707.3_Missense_Mutation_p.R23T|BTNL8_ENST00000340184.4_Missense_Mutation_p.R148T|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.R32T|BTNL8_ENST00000508408.1_Missense_Mutation_p.R148T|BTNL8_ENST00000505126.1_5'UTR NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 148 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TATGTTGATAGAGACATCCAG 0.537000 144 412 0 0 0.870114 0 0 USP44 84101 broad.mit.edu 37 12 95927813 95927813 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:95927813C>T ENST00000258499.3 - 2 508 c.220G>A c.(220-222)Gag>Aag p.E74K USP44_ENST00000537435.2_Missense_Mutation_p.E74K|USP44_ENST00000552440.1_Missense_Mutation_p.E74K|USP44_ENST00000393091.2_Missense_Mutation_p.E74K NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 74 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 ACGTACATCTCATTCACCTCC 0.408000 OREG0022039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 82 0 0 0.750413 0 0 ERCC5 2073 broad.mit.edu 37 13 103514472 103514472 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:103514472C>G ENST00000355739.4 + 8 2396 c.973C>G c.(973-975)Cca>Gca p.P325A BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S750C NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GAAGTCATCTCCATGTGAAAA 0.453000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 4 291 0 0 0.150653 0 0 PCNX 22990 broad.mit.edu 37 14 71428976 71428976 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:71428976C>A ENST00000304743.2 + 3 842 c.396C>A c.(394-396)ttC>ttA p.F132L PCNX_ENST00000238570.5_Missense_Mutation_p.F132L|PCNX_ENST00000439984.3_Missense_Mutation_p.F132L NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 132 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGTCTGAGTTCATCCGAGAGG 0.443000 6 469 0.00307968 0.0031305 0.278610 1 0 CASC1 55259 broad.mit.edu 37 12 25267694 25267694 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:25267694G>C ENST00000354189.5 - 13 1716 c.1681C>G c.(1681-1683)Cat>Gat p.H561D CASC1_ENST00000545133.1_Missense_Mutation_p.H438D|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.H503D|CASC1_ENST00000395990.2_Missense_Mutation_p.H457D|CASC1_ENST00000320267.9_Missense_Mutation_p.H497D|CASC1_ENST00000537577.1_Missense_Mutation_p.H385D NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 497 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) ATGTTAATATGAGCATCTTGA 0.378000 41 112 0 0 0.834066 0 0 SLC22A10 387775 broad.mit.edu 37 11 63072312 63072312 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:63072312G>C ENST00000332793.6 + 9 1551 c.1549G>C c.(1549-1551)Gaa>Caa p.E517Q SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 517 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCTCCTACCAGAAACCAAGAA 0.433000 51 208 0 0 0.870114 0 0 C19orf12 83636 broad.mit.edu 37 19 30193787 30193787 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:30193787C>G ENST00000323670.9 - 3 397 c.258G>C c.(256-258)caG>caC p.Q86H C19orf12_ENST00000392276.1_Missense_Mutation_p.Q22H|C19orf12_ENST00000592153.1_Missense_Mutation_p.Q86H|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Missense_Mutation_p.Q97H NM_001256047.1|NM_031448.4 NP_001242976.1|NP_113636.2 Q9NSK7 CS012_HUMAN chromosome 19 open reading frame 12 86 integral to membrane Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183) TAAAGAGCCTCTGTTGCTCGG 0.632000 6 144 0 0 0.278610 0 0 ZNF594 84622 broad.mit.edu 37 17 5087056 5087056 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:5087056G>C ENST00000399604.4 - 1 636 c.496C>G c.(496-498)Caa>Gaa p.Q166E ZNF594_ENST00000575779.1_Missense_Mutation_p.Q166E Q96JF6 ZN594_HUMAN zinc finger protein 594 166 Q -> H (in dbSNP:rs59197486). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTTGAACTTTGATTAGAGTCT 0.338000 29 131 0 0 0.729181 0 0 FBXO16 157574 broad.mit.edu 37 8 28321304 28321304 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:28321304C>G ENST00000380254.2 - 4 315 c.167G>C c.(166-168)aGa>aCa p.R56T FBXO16_ENST00000518734.1_Missense_Mutation_p.R44T|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Missense_Mutation_p.R44T NM_001258211.1|NM_172366.3 NP_001245140.1|NP_758954.1 Q8IX29 FBX16_HUMAN F-box protein 16 56 large_intestine(2)|ovary(1) 3 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) TGTGAGGATTCTTCTTCTTTG 0.438000 20 69 0 0 0.575678 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110397821 110397821 + Silent SNP T T A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:110397821T>A ENST00000378402.5 + 6 635 c.531T>A c.(529-531)atT>atA p.I177I NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 177 IPT/TIG 2. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAAGTAATATTGCACTAAGCT 0.294000 HNSCC(38;0.096) 12 81 0 0 0.457914 0 0 KCNH3 23416 broad.mit.edu 37 12 49942877 49942877 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:49942877C>T ENST00000257981.6 + 8 1649 c.1389C>T c.(1387-1389)ctC>ctT p.L463L NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 463 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 TCAGCAGCCTCACCAGCGTGG 0.682000 19 43 0 0 0.608945 0 0 CSNK1E 1454 broad.mit.edu 37 22 38696026 38696026 + Missense_Mutation SNP T T G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:38696026T>G ENST00000396832.1 - 6 870 c.610A>C c.(610-612)Atg>Ctg p.M204L CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000413574.2_Missense_Mutation_p.M204L|CSNK1E_ENST00000405675.3_Missense_Mutation_p.M204L|CSNK1E_ENST00000400206.2_Missense_Mutation_p.M204L|CSNK1E_ENST00000359867.3_Missense_Mutation_p.M204L|CSNK1E_ENST00000403904.1_Missense_Mutation_p.M204L NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 204 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) TTGAAGTACATGAGCACGTAG 0.577000 27 87 0 0 0.706142 0 0 GPAT2 150763 broad.mit.edu 37 2 96690561 96690561 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:96690561G>T ENST00000434632.1 - 15 1847 c.1388C>A c.(1387-1389)aCg>aAg p.T463K GPAT2_ENST00000453542.1_Missense_Mutation_p.T392K|GPAT2_ENST00000359548.4_Missense_Mutation_p.T463K|GPAT2_ENST00000377137.3_Missense_Mutation_p.T463K Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 463 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CATAATGGCCGTGCTCATCAC 0.642000 63 209 1.72039e-30 1.85435e-30 0.870114 1 0 TTC7B 145567 broad.mit.edu 37 14 91123528 91123528 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:91123528G>A ENST00000357056.2 - 11 1452 c.1331C>T c.(1330-1332)tCc>tTc p.S444F TTC7B_ENST00000328459.6_Missense_Mutation_p.S444F Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 444 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) CCAGTGCAGGGAGCCCATGCA 0.622000 97 65 0 0 0.870114 0 0 PLSCR2 57047 broad.mit.edu 37 3 146173093 146173093 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:146173093C>T ENST00000497985.1 - 6 912 c.473G>A c.(472-474)cGa>cAa p.R158Q PLSCR2_ENST00000336685.2_Missense_Mutation_p.R85Q NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 85 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 TATGACTTCTCGACCCACATT 0.418000 47 242 0 0 0.870114 0 0 RRM1 6240 broad.mit.edu 37 11 4132854 4132854 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:4132854G>T ENST00000300738.5 + 6 675 c.471G>T c.(469-471)ttG>ttT p.L157F RRM1_ENST00000423050.2_Missense_Mutation_p.L60F NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 157 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) CTTATTTGTTGAAGATCAATG 0.328000 29 77 4.3181e-19 4.59404e-19 0.769981 1 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080763 57080763 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:57080763C>G ENST00000532437.1 - 4 1710 c.1399G>C c.(1399-1401)Gag>Cag p.E467Q TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E467Q Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 467 Acidic.|Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CAGTTGGACTCTGCCCCAAAG 0.672000 21 42 0 0 0.608945 0 0 ZNF471 57573 broad.mit.edu 37 19 57037129 57037129 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:57037129C>T ENST00000308031.5 + 5 1826 c.1693C>T c.(1693-1695)Cat>Tat p.H565Y ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) TCAAAGAATTCATACTGGAGA 0.423000 30 86 0 0 0.717897 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959148 10959148 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:10959148G>C ENST00000240615.2 - 1 744 c.432C>G c.(430-432)gtC>gtG p.V144V NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 144 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CTATAAGGCTGACCAACAAGG 0.403000 21 87 0 0 0.575678 0 0 OR2J3 442186 broad.mit.edu 37 6 29080281 29080281 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:29080281C>G ENST00000377169.1 + 1 614 c.614C>G c.(613-615)aCa>aGa p.T205R NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 CTCATGATCACAAGCTCCATA 0.468000 60 38 0 0 0.870114 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541612 133541612 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:133541612C>T ENST00000409261.1 - 14 3145 c.2772G>A c.(2770-2772)gtG>gtA p.V924V NCKAP5_ENST00000317721.6_Silent_p.V924V|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 924 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AAGGGGATTTCACCCCTGCCT 0.622000 21 38 0 0 0.592651 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71509489 71509489 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:71509489G>A ENST00000265382.3 + 8 1011 c.706G>A c.(706-708)Gaa>Aaa p.E236K PIP5K1B_ENST00000541509.1_Missense_Mutation_p.E236K NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 236 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding p.E236K(1) breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) AGACATGCACGAAGGGTTGTA 0.423000 44 135 0 0 0.870114 0 0 PRKDC 5591 broad.mit.edu 37 8 48776002 48776002 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:48776002G>A ENST00000314191.2 - 43 5761 c.5705C>T c.(5704-5706)tCg>tTg p.S1902L PRKDC_ENST00000338368.3_Missense_Mutation_p.S1902L|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1903 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTAATACACGAGCCATGGAA 0.313000 Non-homologous end-joining 44 170 0 0 0.870114 0 0 TMPO 7112 broad.mit.edu 37 12 98926775 98926775 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:98926775C>G ENST00000266732.4 + 4 978 c.740C>G c.(739-741)tCt>tGt p.S247C TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron NM_003276.2 NP_003267.1 P42167 LAP2B_HUMAN thymopoietin 0 Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GTACATACTTCTAAGGGAGAC 0.468000 4 174 0 0 0.184627 0 0 FRMD6 122786 broad.mit.edu 37 14 52182162 52182162 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:52182162C>G ENST00000395718.2 + 10 1230 c.945C>G c.(943-945)ctC>ctG p.L315L FRMD6_ENST00000554167.1_Silent_p.L246L|FRMD6_ENST00000344768.5_Silent_p.L323L|FRMD6_ENST00000356218.4_Silent_p.L315L NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 323 FERM. cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) GCCACCGCCTCTATATGAATC 0.557000 52 29 0 0 0.870114 0 0 SLC26A5 375611 broad.mit.edu 37 7 103014907 103014907 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:103014907G>A ENST00000306312.3 - 20 2435 c.2174C>T c.(2173-2175)tCg>tTg p.S725L SLC26A5_ENST00000393723.1_Missense_Mutation_p.S695L|SLC26A5_ENST00000432958.2_Missense_Mutation_p.S693L|SLC26A5_ENST00000354356.4_Missense_Mutation_p.S158L|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.S693L|SLC26A5_ENST00000393729.1_Missense_Mutation_p.S688L|SLC26A5_ENST00000393727.1_Missense_Mutation_p.S727L|SLC26A5_ENST00000393735.2_Intron NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 725 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 AGGGGGAGCCGAGGCTTCCTG 0.532000 26 68 0 0 0.654019 0 0 TRIT1 54802 broad.mit.edu 37 1 40313713 40313713 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:40313713C>T ENST00000316891.5 - 6 774 c.760G>A c.(760-762)Gag>Aag p.E254K TRIT1_ENST00000441669.2_Missense_Mutation_p.E172K|TRIT1_ENST00000372818.1_Missense_Mutation_p.E254K|TRIT1_ENST00000545233.1_Missense_Mutation_p.E8K|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_5'UTR|TRIT1_ENST00000491865.1_Intron NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 254 Interaction with isopentenylpyrophosphate transferase (By similarity). tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTTAGTTCCTCCAAGAGCCCA 0.428000 35 137 0 0 0.804634 0 0 FAT4 79633 broad.mit.edu 37 4 126411784 126411784 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:126411784G>C ENST00000394329.3 + 17 13820 c.13807G>C c.(13807-13809)Gaa>Caa p.E4603Q FAT4_ENST00000335110.5_Missense_Mutation_p.E2844Q NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4603 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 TCACAACTCAGAAACCATCCC 0.493000 23 74 0 0 0.608945 0 0 FGF20 26281 broad.mit.edu 37 8 16850803 16850803 + Silent SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:16850803G>T ENST00000180166.5 - 3 562 c.414C>A c.(412-414)atC>atA p.I138I NM_019851.2 NP_062825.1 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 138 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 11 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GCTCCCTAAAGATGCATTCGG 0.333000 45 215 2.77807e-22 2.96584e-22 0.864702 1 0 ESCO1 114799 broad.mit.edu 37 18 19153502 19153502 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:19153502G>C ENST00000269214.5 - 4 2240 c.1303C>G c.(1303-1305)Caa>Gaa p.Q435E NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 435 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 AACGTACTTTGAGTCACTGGA 0.348000 39 159 0 0 0.819951 0 0 OR5L1 219437 broad.mit.edu 37 11 55579557 55579557 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:55579557G>A ENST00000333973.2 + 1 704 c.615G>A c.(613-615)ttG>ttA p.L205L NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGGCCACTTTGAATGAGAGTG 0.468000 71 229 0 0 0.870114 0 0 AKAP6 9472 broad.mit.edu 37 14 33290655 33290655 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:33290655G>A ENST00000280979.4 + 13 3806 c.3636G>A c.(3634-3636)atG>atA p.M1212I AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1212 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TAAATGGGATGAGTGAGGATG 0.393000 107 88 0 0 0.870114 0 0 AGXT2 64902 broad.mit.edu 37 5 35010167 35010167 + Nonsense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:35010167C>A ENST00000231420.6 - 12 1476 c.1276G>T c.(1276-1278)Gaa>Taa p.E426* NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 426 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CCAACAATTTCAAATTCATCC 0.428000 43 184 8.20599e-20 8.74548e-20 0.859065 1 0 PDZRN4 29951 broad.mit.edu 37 12 41966788 41966788 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:41966788C>T ENST00000298919.7 + 10 1815 c.1427C>T c.(1426-1428)tCt>tTt p.S476F PDZRN4_ENST00000402685.2_Missense_Mutation_p.S736F|PDZRN4_ENST00000539469.2_Missense_Mutation_p.S478F Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 736 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AAGGACAGTTCTAGTGCTTAC 0.473000 35 115 0 0 0.812448 0 0 AKAP3 10566 broad.mit.edu 37 12 4737844 4737844 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:4737844C>G ENST00000545990.2 - 5 748 c.224G>C c.(223-225)gGa>gCa p.G75A AKAP3_ENST00000228850.1_Missense_Mutation_p.G75A NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 75 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 GTGTGGGTCTCCTGAGTTGGA 0.488000 46 92 0 0 0.859065 0 0 NUP155 9631 broad.mit.edu 37 5 37302930 37302930 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:37302930G>C ENST00000231498.3 - 29 3601 c.3398C>G c.(3397-3399)tCa>tGa p.S1133* NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Nonsense_Mutation_p.S1074*|NUP155_ENST00000513532.1_Nonsense_Mutation_p.S1069* NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1133 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCAGCTATTGATGAAATGGC 0.408000 51 212 0 0 0.870114 0 0 PRR16 51334 broad.mit.edu 37 5 120021840 120021840 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:120021840G>A ENST00000379551.2 + 3 639 c.282G>A c.(280-282)ctG>ctA p.L94L PRR16_ENST00000505123.1_Silent_p.L47L|PRR16_ENST00000446965.1_Silent_p.L47L|PRR16_ENST00000407149.2_Silent_p.L117L NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 117 endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TCACGGTCCTGAGAAAGCCAA 0.522000 45 91 0 0 0.864702 0 0 CELF6 60677 broad.mit.edu 37 15 72582346 72582346 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:72582346C>T ENST00000287202.5 - 5 791 c.537G>A c.(535-537)gtG>gtA p.V179V CELF6_ENST00000539635.1_Silent_p.V40V|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Silent_p.V179V|CELF6_ENST00000543764.2_Silent_p.V64V|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000395258.2_Silent_p.V66V NM_052840.4 NP_443072.3 Q96J87 CELF6_HUMAN CUGBP, Elav-like family member 6 179 RRM 2. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2) 13 TCCCGAACTTCACAAAGGCAC 0.657000 5 17 0 0 0.184627 0 0 SLC4A8 9498 broad.mit.edu 37 12 51890879 51890879 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:51890879G>A ENST00000453097.2 + 22 3269 c.3052G>A c.(3052-3054)Gat>Aat p.D1018N SLC4A8_ENST00000358657.3_Missense_Mutation_p.D1045N NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 1018 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) GAAGTTGGATGATGCCAAAAA 0.453000 32 118 0 0 0.769981 0 0 PGM2L1 283209 broad.mit.edu 37 11 74053568 74053568 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:74053568C>G ENST00000298198.4 - 12 1881 c.1570G>C c.(1570-1572)Gct>Cct p.A524P NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 524 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) TGCAATATAGCAAATGTTCCA 0.323000 4 199 0 0 0.150653 0 0 PDE4B 5142 broad.mit.edu 37 1 66838008 66838008 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:66838008G>A ENST00000423207.2 + 15 2298 c.1813G>A c.(1813-1815)Gac>Aac p.D605N PDE4B_ENST00000329654.4_Missense_Mutation_p.D620N|PDE4B_ENST00000371045.5_Missense_Mutation_p.D448N|PDE4B_ENST00000480109.2_Missense_Mutation_p.D387N|PDE4B_ENST00000371049.3_Missense_Mutation_p.D620N NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 620 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TGGTTTCATCGACTACATTGT 0.413000 56 164 0 0 0.870114 0 0 MED23 9439 broad.mit.edu 37 6 131931197 131931197 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:131931197G>A ENST00000403834.3 - 11 1257 c.1084C>T c.(1084-1086)Ctt>Ttt p.L362F MED23_ENST00000368068.3_Missense_Mutation_p.L356F|MED23_ENST00000368060.3_Missense_Mutation_p.L356F|MED23_ENST00000354577.4_Missense_Mutation_p.L362F|MED23_ENST00000368058.1_Missense_Mutation_p.L362F|MED23_ENST00000545957.1_Missense_Mutation_p.L45F|MED23_ENST00000368053.4_Missense_Mutation_p.L362F|MED23_ENST00000540546.1_Missense_Mutation_p.L362F|MED23_ENST00000539158.1_Missense_Mutation_p.L356F Q9ULK4 MED23_HUMAN mediator complex subunit 23 356 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TTCTGATGAAGAGAAAGCACC 0.428000 30 79 0 0 0.729181 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17961342 17961342 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:17961342G>C ENST00000361221.3 + 18 1917 c.1758G>C c.(1756-1758)gaG>gaC p.E586D ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E359D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E581D|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E344D|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E547D|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E547D|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E289D NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 586 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GCCAGCTGGAGATCAGCAGCC 0.672000 11 21 0 0 0.361761 0 0 SFMBT2 57713 broad.mit.edu 37 10 7262467 7262467 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:7262467C>T ENST00000361972.4 - 11 1326 c.1236G>A c.(1234-1236)atG>atA p.M412I SFMBT2_ENST00000397167.1_Missense_Mutation_p.M412I NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 412 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CTTCAAGTTTCATGTTCTTTG 0.517000 62 116 0 0 0.870114 0 0 CD1C 911 broad.mit.edu 37 1 158262651 158262651 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:158262651C>T ENST00000368170.3 + 4 1155 c.876C>T c.(874-876)atC>atT p.I292I NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 292 Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GCCAGGACATCATCCTCTACT 0.527000 12 45 0 0 0.435327 0 0 SLC30A8 169026 broad.mit.edu 37 8 118184876 118184876 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:118184876G>C ENST00000427715.2 + 11 1353 c.919G>C c.(919-921)Gac>Cac p.D307H SLC30A8_ENST00000519688.1_Missense_Mutation_p.D307H|SLC30A8_ENST00000456015.2_Missense_Mutation_p.D356H|SLC30A8_ENST00000521243.1_Missense_Mutation_p.D307H NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 356 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ATCTCCAGTTGACCAGGACCC 0.507000 37 232 0 0 0.812448 0 0 FLG 2312 broad.mit.edu 37 1 152281432 152281432 + Nonsense_Mutation SNP G G C rs140980397 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:152281432G>C ENST00000368799.1 - 3 5965 c.5930C>G c.(5929-5931)tCa>tGa p.S1977* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1977 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACGAGTGCCTGATTGTCTGGA 0.572000 Ichthyosis 278 517 0 0 0.870114 0 0 LGALS9B 284194 broad.mit.edu 37 17 20354855 20354855 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:20354855C>A ENST00000423676.3 - 10 926 c.863G>T c.(862-864)tGg>tTg p.W288L LGALS9B_ENST00000324290.5_Missense_Mutation_p.W287L Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B 288 Beta-galactoside binding 2 (By similarity).|Galectin 2. sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 CTCAGACCCCCAAGAGTTGTT 0.572000 20 53 4.3181e-19 4.59404e-19 0.769981 1 0 CSMD3 114788 broad.mit.edu 37 8 113421233 113421233 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:113421233C>T ENST00000297405.5 - 33 5668 c.5424G>A c.(5422-5424)caG>caA p.Q1808Q CSMD3_ENST00000343508.3_Silent_p.Q1768Q|CSMD3_ENST00000455883.2_Silent_p.Q1704Q|CSMD3_ENST00000352409.3_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1808 CUB 10. 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 GGAGTGATGTCTGGAAAAATA 0.408000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 70 180 0 0 0.870114 0 0 C1orf51 148523 broad.mit.edu 37 1 150259239 150259239 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:150259239C>T ENST00000290363.5 + 5 1480 c.1031C>T c.(1030-1032)tCa>tTa p.S344L C1orf51_ENST00000369094.1_Missense_Mutation_p.S256L|C1orf51_ENST00000369095.1_Missense_Mutation_p.S344L NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 344 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ACTCTGCCATCAGACTGGAGC 0.542000 56 117 0 0 0.870114 0 0 IFNGR1 3459 broad.mit.edu 37 6 137525504 137525504 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:137525504C>T ENST00000367739.4 - 4 632 c.511G>A c.(511-513)Gtg>Atg p.V171M IFNGR1_ENST00000543628.1_Missense_Mutation_p.V143M|IFNGR1_ENST00000367735.2_Missense_Mutation_p.V161M NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 171 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) ACATTGTACACCCTAATGTAA 0.378000 49 191 0 0 0.870114 0 0 KCNJ15 3772 broad.mit.edu 37 21 39672179 39672179 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:39672179G>C ENST00000398930.1 + 4 1350 c.996G>C c.(994-996)caG>caC p.Q332H KCNJ15_ENST00000398938.2_Missense_Mutation_p.Q332H|KCNJ15_ENST00000398934.1_Missense_Mutation_p.Q332H|KCNJ15_ENST00000398932.1_Missense_Mutation_p.Q332H|KCNJ15_ENST00000328656.3_Missense_Mutation_p.Q332H Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 332 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 AGTTTGAACAGATTCGGAAAA 0.433000 31 105 0 0 0.750413 0 0 N4BP1 9683 broad.mit.edu 37 16 48596001 48596001 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:48596001C>G ENST00000262384.3 - 2 789 c.553G>C c.(553-555)Gaa>Caa p.E185Q RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 185 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) GTCAAAAGTTCTTTTTTCAAG 0.368000 19 74 0 0 0.539581 0 0 TMCC2 9911 broad.mit.edu 37 1 205210816 205210816 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:205210816C>T ENST00000358024.3 + 2 780 c.391C>T c.(391-393)Cgc>Tgc p.R131C TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.R53C NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 131 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GGAGATGCATCGCGTCTCCTA 0.657000 25 27 0 0 0.706142 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68043190 68043190 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:68043190G>T ENST00000329153.5 + 17 2563 c.2431G>T c.(2431-2433)Gga>Tga p.G811* NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 811 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) GCAGCTCATTGGAAAACTGAT 0.562000 49 39 3.7052e-28 3.97631e-28 0.864702 1 0 UBR5 51366 broad.mit.edu 37 8 103289202 103289202 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:103289202G>A ENST00000520539.1 - 45 7113 c.6507C>T c.(6505-6507)ttC>ttT p.F2169F UBR5_ENST00000521922.1_Silent_p.F2163F|UBR5_ENST00000220959.4_Silent_p.F2169F NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2169 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GCAAATACCTGAAAGATGTGA 0.383000 36 129 0 0 0.779181 0 0 CLDN23 137075 broad.mit.edu 37 8 8560295 8560295 + Silent SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:8560295C>A ENST00000519106.1 + 1 848 c.387C>A c.(385-387)ctC>ctA p.L129L NM_194284.2 NP_919260.2 Q96B33 CLD23_HUMAN claudin 23 129 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2) 2 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238) TCCTCGGCCTCATCCCGGTGT 0.701000 12 18 4.3838e-07 4.52332e-07 0.435327 1 0 MUC16 94025 broad.mit.edu 37 19 9062946 9062946 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:9062946G>C ENST00000397910.4 - 3 24703 c.24500C>G c.(24499-24501)tCa>tGa p.S8167* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8169 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 AGCAAAGCCTGAGATGGATGT 0.507000 37 89 0 0 0.804634 0 0 SEMA5B 54437 broad.mit.edu 37 3 122631079 122631079 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:122631079C>G ENST00000195173.4 - 19 3136 c.2833G>C c.(2833-2835)Gag>Cag p.E945Q SEMA5B_ENST00000357599.3_Missense_Mutation_p.E946Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.E1000Q Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 946 TSP type-1 4. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CAGATGTCCTCACCTGGGGAG 0.632000 24 22 0 0 0.654019 0 0 ZNF250 58500 broad.mit.edu 37 8 146107829 146107829 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:146107829C>G ENST00000292579.7 - 6 870 c.754G>C c.(754-756)Gag>Cag p.E252Q ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E247Q NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TAGGGCTTCTCACCTGTGTGA 0.483000 12 76 0 0 0.435327 0 0 LRP2 4036 broad.mit.edu 37 2 169989122 169989122 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:169989122C>G ENST00000263816.3 - 77 13975 c.13690G>C c.(13690-13692)Gag>Cag p.E4564Q NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4564 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGGTTTGTCTCTGGAACTATC 0.418000 4 240 0 0 0.150653 0 0 STAM 8027 broad.mit.edu 37 10 17747604 17747604 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:17747604C>G ENST00000377524.3 + 12 1288 c.1073C>G c.(1072-1074)tCa>tGa p.S358* STAM_ENST00000540523.1_Nonsense_Mutation_p.S247* NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 358 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 TCAGAACTCTCAGAACTTAAT 0.323000 4 89 0 0 0.150653 0 0 PLOD2 5352 broad.mit.edu 37 3 145804659 145804659 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:145804659C>T ENST00000282903.5 - 10 1219 c.1042G>A c.(1042-1044)Gat>Aat p.D348N PLOD2_ENST00000360060.3_Missense_Mutation_p.D348N|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.D293N NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 348 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TTAGCTTTATCAAAAAATACC 0.284000 13 28 0 0 0.435327 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69420191 69420191 + Silent SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:69420191C>A ENST00000333026.3 + 4 454 c.354C>A c.(352-354)atC>atA p.I118I NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 118 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 GTGTCTTCATCAACTTTGCCA 0.463000 37 39 3.66082e-28 3.93211e-28 0.812448 1 0 PXDN 7837 broad.mit.edu 37 2 1647338 1647338 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:1647338C>G ENST00000252804.4 - 19 3804 c.3754G>C c.(3754-3756)Gag>Cag p.E1252Q NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1252 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCAGGGTTCTCATACCACAAC 0.557000 29 74 0 0 0.740014 0 0 AQP9 366 broad.mit.edu 37 15 58465363 58465363 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:58465363G>C ENST00000219919.4 + 3 705 c.335G>C c.(334-336)gGa>gCa p.G112A AQP9_ENST00000558772.1_Missense_Mutation_p.G47A|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.G112A NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 112 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) CAGTTCTTGGGAGCCTTTGTG 0.473000 74 271 0 0 0.870114 0 0 STAT4 6775 broad.mit.edu 37 2 191929550 191929550 + Silent SNP G G A rs138111228 by1000genomes TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:191929550G>A ENST00000392320.2 - 8 1079 c.765C>T c.(763-765)ctC>ctT p.L255L STAT4_ENST00000358470.4_Silent_p.L255L NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 255 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GAAGCTGGTCGAGCCCATTGT 0.502000 73 262 0 0 0.870114 0 0 PCSK7 9159 broad.mit.edu 37 11 117098989 117098989 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:117098989C>T ENST00000320934.3 - 4 1176 c.546G>A c.(544-546)acG>acA p.T182T NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 182 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) CTACCACCACCGTCACCCCTC 0.582000 T IGH@ MLCLS 12 24 0 0 0.520397 0 0 SLC46A3 283537 broad.mit.edu 37 13 29286950 29286950 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:29286950C>G ENST00000266943.6 - 3 1296 c.927G>C c.(925-927)ttG>ttC p.L309F SLC46A3_ENST00000380814.4_Missense_Mutation_p.L309F NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 309 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) GGAAACTAGTCAAAAAAGAGG 0.383000 30 81 0 0 0.717897 0 0 HS6ST3 266722 broad.mit.edu 37 13 96743704 96743704 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:96743704C>G ENST00000376705.2 + 1 612 c.588C>G c.(586-588)ctC>ctG p.L196L NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 196 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) AGACGTGGCTCTTCTCCCGCT 0.637000 3 18 0 0 0.217242 0 0 KRT10 3858 broad.mit.edu 37 17 38975820 38975820 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:38975820C>T ENST00000269576.5 - 6 1331 c.1322G>A c.(1321-1323)cGa>cAa p.R441Q TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 441 Coil 2.|Gly-rich.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ATTCTCCAGTCGGATCTTAAT 0.418000 61 184 0 0 0.870114 0 0 WDFY3 23001 broad.mit.edu 37 4 85617224 85617224 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:85617224G>C ENST00000322366.6 - 57 9156 c.8749C>G c.(8749-8751)Ctt>Gtt p.L2917V WDFY3_ENST00000295888.4_Missense_Mutation_p.L2934V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2934 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCATAAAAAAGATGATGGAAG 0.413000 49 139 0 0 0.870114 0 0 ANK2 287 broad.mit.edu 37 4 114280341 114280341 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:114280341G>C ENST00000357077.4 + 38 10620 c.10567G>C c.(10567-10569)Gag>Cag p.E3523Q ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E3490Q|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3490 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCCACCTGTTGAGACCGAGCA 0.468000 56 152 0 0 0.870114 0 0 HSCB 150274 broad.mit.edu 37 22 29141879 29141879 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:29141879G>A ENST00000216027.3 + 4 516 c.451G>A c.(451-453)Gaa>Aaa p.E151K HSCB_ENST00000398941.2_Intron|HSCB_ENST00000495977.1_3'UTR NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone 151 iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1)|lung(2)|skin(1) 4 AGAGATTCCTGAAAGGACAGA 0.378000 32 100 0 0 0.788014 0 0 SIN3A 25942 broad.mit.edu 37 15 75668138 75668138 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:75668138C>T ENST00000394947.3 - 20 3773 c.3459G>A c.(3457-3459)aaG>aaA p.K1153K SIN3A_ENST00000394949.4_Silent_p.K1153K|SIN3A_ENST00000360439.4_Silent_p.K1153K NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 1153 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CCATGGTCTTCTTGCTGTTTC 0.468000 65 222 0 0 0.870114 0 0 FASTKD5 60493 broad.mit.edu 37 20 3128246 3128246 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:3128246C>T ENST00000380266.3 - 2 1792 c.1471G>A c.(1471-1473)Gat>Aat p.D491N UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 491 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 AGAGCGAAATCAATTAACTCT 0.468000 41 78 0 0 0.819951 0 0 MAP3K15 389840 broad.mit.edu 37 X 19380883 19380883 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:19380883G>T ENST00000338883.4 - 26 3651 c.3652C>A c.(3652-3654)Cac>Aac p.H1218N MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.H653N|MAP3K15_ENST00000469203.2_Missense_Mutation_p.H1050N NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1218 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) AACTGAAGGTGATACAATTCT 0.323000 8 150 0.307466 0.309729 0.307466 1 0 ALDOB 229 broad.mit.edu 37 9 104192167 104192167 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:104192167G>A ENST00000374855.4 - 3 318 c.194C>T c.(193-195)tCt>tTt p.S65F ALDOB_ENST00000468981.2_Intron NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 65 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) ACTGTCCACAGAGAAGAGGAT 0.547000 73 196 0 0 0.870114 0 0 SHROOM2 357 broad.mit.edu 37 X 9900879 9900879 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:9900879C>G ENST00000380913.3 + 6 3646 c.3556C>G c.(3556-3558)Ccc>Gcc p.P1186A SHROOM2_ENST00000418909.2_Missense_Mutation_p.P21A|SHROOM2_ENST00000493668.1_3'UTR NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1186 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GGACAAACCTCCCCTGCTCAT 0.637000 18 15 0 0 0.539581 0 0 ARID1A 8289 broad.mit.edu 37 1 27101465 27101465 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:27101465C>T ENST00000324856.7 + 18 5118 c.4747C>T c.(4747-4749)Cct>Tct p.P1583S ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1200S NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1583 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GAATCACATTCCTCAGGTATC 0.602000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 40 75 0 0 0.840704 0 0 N4BP1 9683 broad.mit.edu 37 16 48596101 48596101 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:48596101C>T ENST00000262384.3 - 2 689 c.453G>A c.(451-453)caG>caA p.Q151Q RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 151 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) CTGATTCTTTCTGACTACTGG 0.398000 27 117 0 0 0.750413 0 0 APC 324 broad.mit.edu 37 5 112177508 112177508 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:112177508G>A ENST00000457016.1 + 16 6597 c.6217G>A c.(6217-6219)Ggt>Agt p.G2073S APC_ENST00000257430.4_Missense_Mutation_p.G2073S|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.G2073S P25054 APC_HUMAN adenomatous polyposis coli 2073 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TGGCATATTAGGTGAAGATCT 0.383000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 49 114 0 0 0.870114 0 0 PLA1A 51365 broad.mit.edu 37 3 119325723 119325723 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:119325723C>T ENST00000273371.4 + 2 248 c.176C>T c.(175-177)tCg>tTg p.S59L PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.S43L|PLA1A_ENST00000495992.1_Missense_Mutation_p.S59L NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 59 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TTTGTCCCTTCGAATCCTAGC 0.507000 68 364 0 0 0.870114 0 0 SVEP1 79987 broad.mit.edu 37 9 113168843 113168843 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:113168843C>G ENST00000401783.2 - 38 9373 c.9037G>C c.(9037-9039)Gaa>Caa p.E3013Q SVEP1_ENST00000374469.1_Missense_Mutation_p.E2990Q|SVEP1_ENST00000297826.5_Missense_Mutation_p.E939Q NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3013 Sushi 27. 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 GTTCCATATTCAATTACTGGT 0.488000 11 40 0 0 0.361761 0 0 PSG5 5673 broad.mit.edu 37 19 43689186 43689186 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:43689186G>C ENST00000404580.1 - 2 266 c.178C>G c.(178-180)Cag>Gag p.Q60E PSG5_ENST00000407356.1_Missense_Mutation_p.Q60E|PSG5_ENST00000599812.1_Missense_Mutation_p.Q60E|PSG5_ENST00000407568.1_Missense_Mutation_p.Q60E|PSG5_ENST00000366175.3_Missense_Mutation_p.Q60E|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Missense_Mutation_p.Q60E Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 60 Ig-like V-type. 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) GCAAGATTCTGAGGCAAATTG 0.448000 105 356 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179616570 179616570 + Silent SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:179616570T>C ENST00000360870.5 - 46 10779 c.10557A>G c.(10555-10557)gaA>gaG p.E3519E TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3518 Ig-like 21. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAACAACCGGTTCACCCTCTA 0.373000 48 174 0 0 0.870114 0 0 NRG3 10718 broad.mit.edu 37 10 83635424 83635424 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:83635424C>A ENST00000404547.1 + 1 328 c.328C>A c.(328-330)Cag>Aag p.Q110K NRG3_ENST00000372141.2_Missense_Mutation_p.Q110K P56975 NRG3_HUMAN neuregulin 3 110 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GGGGATGGGCCAGGACCCCTT 0.642000 24 40 1.85244e-09 1.92754e-09 0.654019 1 0 ARHGAP10 79658 broad.mit.edu 37 4 148944413 148944413 + Splice_Site SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:148944413G>C ENST00000336498.3 + 19 1955 c.e19-1 ARHGAP10_ENST00000414545.2_Splice_Site NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TTTGTTGGAAGATTTTTCGGA 0.483000 3 102 0 0 0.115264 0 0 TIPRL 261726 broad.mit.edu 37 1 168160697 168160697 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:168160697G>A ENST00000367833.2 + 4 620 c.475G>A c.(475-477)Gaa>Aaa p.E159K TIPRL_ENST00000367830.3_Missense_Mutation_p.E159K NM_152902.3 NP_690866.1 O75663 TIPRL_HUMAN TIP41, TOR signaling pathway regulator-like (S. cerevisiae) 159 DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1) 6 all_hematologic(923;0.215) TTTTGAGGATGAACTTCATGA 0.299000 22 170 0 0 0.717897 0 0 CCDC73 493860 broad.mit.edu 37 11 32676499 32676499 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:32676499G>C ENST00000335185.5 - 10 708 c.665C>G c.(664-666)tCa>tGa p.S222* CCDC73_ENST00000534415.1_5'UTR NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 222 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TATCAAGTCTGAGGCTGCTTT 0.299000 17 48 0 0 0.557998 0 0 SFI1 9814 broad.mit.edu 37 22 32014301 32014301 + Splice_Site SNP T T A rs111513493 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:32014301T>A ENST00000432498.1 + 32 3926 c.3531_splice c.e32-1 p.V1178_splice SFI1_ENST00000443011.1_Splice_Site_p.V1056_splice|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000443326.1_Splice_Site_p.V1127_splice|SFI1_ENST00000540643.1_Splice_Site_p.V1154_splice|SFI1_ENST00000400288.2_Splice_Site_p.V1209_splice|SFI1_ENST00000400289.1_Splice_Site_p.V1127_splice NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 1209 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 TGGCCCCAGGTGGAAATGCAG 0.701000 10 26 0 0 0.387290 0 0 PDZD2 23037 broad.mit.edu 37 5 32037440 32037440 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:32037440G>A ENST00000438447.1 + 7 1899 c.1511G>A c.(1510-1512)cGc>cAc p.R504H PDZD2_ENST00000282493.3_Missense_Mutation_p.R504H O15018 PDZD2_HUMAN PDZ domain containing 2 504 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTCAAGAGTCGCCTTTCAGGT 0.547000 9 39 0 0 0.307466 0 0 FER1L6 654463 broad.mit.edu 37 8 125022951 125022951 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:125022951C>A ENST00000522917.1 + 14 2024 c.1818C>A c.(1816-1818)ttC>ttA p.F606L FER1L6_ENST00000399018.1_Missense_Mutation_p.F606L|FER1L6-AS1_ENST00000518567.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 606 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGGCAGACTTCCTGGTAGGTG 0.488000 9 407 0.000442599 0.000452892 0.335167 1 0 CASKIN1 57524 broad.mit.edu 37 16 2239055 2239055 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:2239055G>T ENST00000343516.6 - 6 682 c.590C>A c.(589-591)gCt>gAt p.A197D NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 197 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 GCCGTTTTTAGCTGCGAGGTG 0.657000 17 79 1.02788e-11 1.07409e-11 0.520397 1 0 AKAP11 11215 broad.mit.edu 37 13 42872840 42872840 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:42872840G>A ENST00000025301.2 + 7 698 c.523G>A c.(523-525)Gat>Aat p.D175N NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 175 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AGATGATGATGATACTAACCA 0.403000 37 106 0 0 0.812448 0 0 SPATS1 221409 broad.mit.edu 37 6 44329585 44329585 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:44329585G>A ENST00000288390.2 + 4 777 c.430G>A c.(430-432)Gag>Aag p.E144K SPATS1_ENST00000323108.8_Missense_Mutation_p.E144K Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 144 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCATCGTCCTGAGTGGACATT 0.473000 43 175 0 0 0.870114 0 0 TSC22D1 8848 broad.mit.edu 37 13 45008999 45008999 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:45008999C>T ENST00000458659.2 - 3 3475 c.2985G>A c.(2983-2985)ttG>ttA p.L995L TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Silent_p.L66L NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 995 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CCGCATACATCAAATGGCTTT 0.378000 57 191 0 0 0.870114 0 0 PDE6B 5158 broad.mit.edu 37 4 651154 651154 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:651154C>T ENST00000255622.6 + 10 1315 c.1272C>T c.(1270-1272)ttC>ttT p.F424F PDE6B_ENST00000496514.1_Silent_p.F424F|PDE6B_ENST00000429163.2_Silent_p.F145F NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 424 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 TGACACAGTTCCTGGGCTGGT 0.622000 16 26 0 0 0.479597 0 0 ZNF777 27153 broad.mit.edu 37 7 149152780 149152780 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:149152780C>G ENST00000247930.4 - 2 657 c.334G>C c.(334-336)Gaa>Caa p.E112Q NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) ACTTCTTGTTCAGCAGCAGCT 0.612000 8 225 0 0 0.278610 0 0 CETP 1071 broad.mit.edu 37 16 56996944 56996944 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:56996944G>C ENST00000200676.3 + 2 271 c.141G>C c.(139-141)gtG>gtC p.V47V CETP_ENST00000566128.1_5'UTR|CETP_ENST00000379780.2_Silent_p.V47V|CETP_ENST00000569082.1_3'UTR NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 47 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 CTGCCAAGGTGATCCAGACCG 0.617000 19 86 0 0 0.592651 0 0 WNK3 65267 broad.mit.edu 37 X 54324818 54324818 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:54324818G>C ENST00000354646.2 - 7 1626 c.1188C>G c.(1186-1188)atC>atG p.I396M WNK3_ENST00000375159.2_Missense_Mutation_p.I396M|WNK3_ENST00000375169.3_Missense_Mutation_p.I396M NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 396 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 ATAGGTCCCTGATAGACAACC 0.333000 46 26 0 0 0.859065 0 0 PUF60 22827 broad.mit.edu 37 8 144899226 144899226 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:144899226G>C ENST00000526683.1 - 11 1789 c.1234C>G c.(1234-1236)Ctc>Gtc p.L412V PUF60_ENST00000453551.2_Missense_Mutation_p.L369V|PUF60_ENST00000456095.2_Missense_Mutation_p.L383V|PUF60_ENST00000313352.7_Missense_Mutation_p.L352V|PUF60_ENST00000527197.1_Missense_Mutation_p.L366V|PUF60_ENST00000349157.6_Missense_Mutation_p.L395V|PUF60_ENST00000524570.1_5'UTR NM_001271098.1|NM_078480.1 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 412 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGCTCCAGGAGACCCAGCGTT 0.622000 7 35 0 0 0.248553 0 0 MUC17 140453 broad.mit.edu 37 7 100683350 100683350 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:100683350G>A ENST00000306151.4 + 3 8717 c.8653G>A c.(8653-8655)Gag>Aag p.E2885K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2885 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) GGCCAGTTCTGAGGCTAGCAC 0.483000 145 425 0 0 0.870114 0 0 GDPD1 284161 broad.mit.edu 37 17 57322854 57322854 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:57322854G>C ENST00000284116.4 + 3 402 c.265G>C c.(265-267)Gag>Cag p.E89Q GDPD1_ENST00000581276.1_Missense_Mutation_p.E89Q|GDPD1_ENST00000581140.1_Missense_Mutation_p.E89Q NM_182569.3 NP_872375.2 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain containing 1 89 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) GTCACATGATGAGAATCTAAA 0.348000 4 127 0 0 0.150653 0 0 SLC36A3 285641 broad.mit.edu 37 5 150664219 150664219 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:150664219C>T ENST00000335230.3 - 7 1173 c.762G>A c.(760-762)ttG>ttA p.L254L SLC36A3_ENST00000377713.3_Silent_p.L295L NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 254 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 21 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAAGAACAGCAAGAAGGTCT 0.493000 30 109 0 0 0.750413 0 0 ATXN7 6314 broad.mit.edu 37 3 63982084 63982084 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:63982084G>A ENST00000398590.3 + 12 3139 c.2586G>A c.(2584-2586)gtG>gtA p.V862V ATXN7_ENST00000295900.6_Silent_p.V862V|ATXN7_ENST00000538065.1_Silent_p.V862V|ATXN7_ENST00000487717.1_Silent_p.V862V|ATXN7_ENST00000484332.1_Silent_p.V717V NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 862 V -> M (in dbSNP:rs3774729). cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) TGCCAGCCGTGAACAATGTCC 0.502000 21 48 0 0 0.693898 0 0 SRD5A3 79644 broad.mit.edu 37 4 56225583 56225583 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:56225583C>T ENST00000264228.4 + 2 520 c.292C>T c.(292-294)Ctg>Ttg p.L98L SRD5A3_ENST00000514398.1_3'UTR NM_024592.4 NP_078868.1 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 98 androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) TACTCAATCTCTGTTCCTGGG 0.478000 104 289 0 0 0.870114 0 0 ZNF566 84924 broad.mit.edu 37 19 36940594 36940594 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:36940594C>G ENST00000454319.1 - 5 679 c.545G>C c.(544-546)aGa>aCa p.R182T ZNF566_ENST00000424129.2_Missense_Mutation_p.R181T|ZNF566_ENST00000392170.2_Missense_Mutation_p.R182T|ZNF566_ENST00000493391.1_Missense_Mutation_p.R77T|ZNF566_ENST00000434377.2_Missense_Mutation_p.R181T NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TGAGCCATGTCTAAAGGTTTT 0.378000 51 137 0 0 0.870114 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182869253 182869253 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:182869253G>C ENST00000367547.3 - 10 2063 c.1827C>G c.(1825-1827)ctC>ctG p.L609L SHCBP1L_ENST00000423786.1_Silent_p.L490L|SHCBP1L_ENST00000488956.1_5'UTR NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 681 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 CCCTTTTGTTGAGAGCTTCTT 0.313000 9 62 0 0 0.307466 0 0 LAMA4 3910 broad.mit.edu 37 6 112508744 112508744 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:112508744C>T ENST00000230538.7 - 8 1271 c.874G>A c.(874-876)Gag>Aag p.E292K LAMA4_ENST00000389463.4_Missense_Mutation_p.E285K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E285K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E285K NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 292 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTGCCTTCCTCGATGGAGAGC 0.537000 10 35 0 0 0.592651 0 0 MESDC1 59274 broad.mit.edu 37 15 81295691 81295691 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:81295691C>G ENST00000267984.2 + 1 2397 c.1079C>G c.(1078-1080)tCt>tGt p.S360C NM_022566.2 NP_072088.1 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 360 endometrium(1)|lung(2) 3 AATTCCAATTCTGTGAATTAG 0.517000 3 19 0 0 0.115264 0 0 KIAA1109 84162 broad.mit.edu 37 4 123245661 123245661 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:123245661G>A ENST00000264501.4 + 64 11247 c.10874G>A c.(10873-10875)aGa>aAa p.R3625K KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3625K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3625K Q2LD37 K1109_HUMAN KIAA1109 3625 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GCTTCTGGAAGACCACCTCTT 0.378000 18 78 0 0 0.539581 0 0 FRY 10129 broad.mit.edu 37 13 32776558 32776558 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:32776558C>G ENST00000380250.3 + 31 4408 c.3912C>G c.(3910-3912)ctC>ctG p.L1304L NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1304 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GAAGTATTCTCTATGGAACAC 0.478000 10 126 0 0 0.411799 0 0 UBR2 23304 broad.mit.edu 37 6 42626464 42626464 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:42626464G>C ENST00000372899.1 + 29 3402 c.3144G>C c.(3142-3144)caG>caC p.Q1048H UBR2_ENST00000372883.3_Missense_Mutation_p.R556T|UBR2_ENST00000372901.1_Missense_Mutation_p.Q1048H NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1048 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TCATGGCTCAGATGTCTGAAA 0.423000 61 102 0 0 0.870114 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12908067 12908067 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:12908067G>C ENST00000317869.6 - 2 301 c.76C>G c.(76-78)Ctt>Gtt p.L26V NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TTGACAACAAGAGTGTTGAGA 0.443000 32 303 0 0 0.729181 0 0 MAGEA11 4110 broad.mit.edu 37 X 148798247 148798247 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:148798247G>C ENST00000355220.5 + 5 1203 c.1101G>C c.(1099-1101)aaG>aaC p.K367N MAGEA11_ENST00000333104.4_Missense_Mutation_p.K338N NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 367 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TGCAGGAAAAGTACCTGGTGT 0.557000 92 96 0 0 0.870114 0 0 VSIG2 23584 broad.mit.edu 37 11 124621364 124621364 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:124621364C>G ENST00000403470.1 - 2 229 c.174G>C c.(172-174)gaG>gaC p.E58D VSIG2_ENST00000326621.5_Missense_Mutation_p.E58D Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 58 Ig-like V-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) CAAAGCTCCACTCCAGGGCGA 0.627000 34 112 0 0 0.779181 0 0 DHRS7 51635 broad.mit.edu 37 14 60619717 60619717 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:60619717G>A ENST00000216500.5 - 5 1028 c.573C>T c.(571-573)atC>atT p.I191I DHRS7_ENST00000557185.1_Silent_p.I191I|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000536410.2_Silent_p.I141I|DHRS7_ENST00000553986.1_5'UTR Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 191 binding|oxidoreductase activity endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) TGATACCCAGGATGCTATTCA 0.433000 109 94 0 0 0.870114 0 0 ATRX 546 broad.mit.edu 37 X 76891448 76891448 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:76891448G>C ENST00000373344.5 - 16 4871 c.4657C>G c.(4657-4659)Cat>Gat p.H1553D ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.H1515D NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1553 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ATATTTCTATGAACCTGCACT 0.323000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 27 14 0 0 0.681144 0 0 MYH4 4622 broad.mit.edu 37 17 10358497 10358497 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:10358497G>C ENST00000255381.2 - 20 2400 c.2290C>G c.(2290-2292)Cat>Gat p.H764D CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 764 Actin-binding (By similarity).|Myosin head-like. 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 ACCTTGGTATGACCGAATTTG 0.383000 3 151 0 0 0.115264 0 0 TTN 7273 broad.mit.edu 37 2 179487426 179487426 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:179487426C>T ENST00000589042.1 - 243 45108 c.44884G>A c.(44884-44886)Gag>Aag p.E14962K TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5897K|TTN_ENST00000591111.1_Missense_Mutation_p.E13321K|TTN_ENST00000342175.6_Missense_Mutation_p.E6089K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12394K|TTN_ENST00000359218.5_Missense_Mutation_p.E6022K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13321 Fibronectin type-III 8. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTCACACTCAAATCGAGCC 0.373000 13 12 0 0 0.457914 0 0 PDGFRA 5156 broad.mit.edu 37 4 55136804 55136804 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:55136804C>T ENST00000257290.5 + 8 1457 c.1126C>T c.(1126-1128)Cga>Tga p.R376* FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 376 Ig-like C2-type 4. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TAAAAGGTATCGAAGCAAATT 0.318000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 26 91 0 0 0.693898 0 0 IDS 3423 broad.mit.edu 37 X 148577955 148577955 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:148577955C>G ENST00000340855.6 - 6 1010 c.801G>C c.(799-801)tgG>tgC p.W267C AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.W267C|IDS_ENST00000370443.4_Missense_Mutation_p.W267C|IDS_ENST00000541269.1_Missense_Mutation_p.W56C NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 267 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TGATGTCCATCCAGGGGTTGT 0.542000 6 187 0 0 0.217242 0 0 IL6R 3570 broad.mit.edu 37 1 154427027 154427027 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:154427027G>C ENST00000368485.3 + 9 1567 c.1130G>C c.(1129-1131)gGa>gCa p.G377A IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Intron NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 377 acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTGGCCTTCGGAACGCTCCTC 0.483000 17 44 0 0 0.557998 0 0 SH2B3 10019 broad.mit.edu 37 12 111885521 111885521 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:111885521C>T ENST00000341259.2 + 7 1655 c.1298C>T c.(1297-1299)tCg>tTg p.S433L SH2B3_ENST00000538307.1_Missense_Mutation_p.S231L NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 433 SH2. blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 CACTTTCCCTCGGTCGTGGAC 0.667000 31 71 0 0 0.717897 0 0 ZFPL1 7542 broad.mit.edu 37 11 64853913 64853913 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:64853913G>A ENST00000294258.3 + 4 393 c.241G>A c.(241-243)Gaa>Aaa p.E81K NM_006782.3 NP_006773.2 O95159 ZFPL1_HUMAN zinc finger protein-like 1 81 regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 CTGCCTCAATGAACGTGCTGC 0.592000 115 303 0 0 0.870114 0 0 BAZ2B 29994 broad.mit.edu 37 2 160295624 160295624 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:160295624C>G ENST00000392783.2 - 7 1291 c.796G>C c.(796-798)Gat>Cat p.D266H BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264H|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266H|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264H NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 tctAGATCATCTGAATCACTG 0.373000 71 184 0 0 0.870114 0 0 SRGAP3 9901 broad.mit.edu 37 3 9074387 9074387 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:9074387G>A ENST00000383836.3 - 12 1913 c.1486C>T c.(1486-1488)Ctc>Ttc p.L496F SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Intron NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 496 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TACACTGAGAGAGGCCTAGGT 0.468000 T RAF1 pilocytic astrocytoma 45 40 0 0 0.870114 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106829777 106829777 + RNA SNP C C G rs11546807 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:106829777C>G ENST00000390616.2 - 0 216 GCTGGCGGATCCAGCTCCAGT 0.572000 43 36 0 0 0.870114 0 0 NPR3 4883 broad.mit.edu 37 5 32789775 32789775 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:32789775C>T ENST00000326958.1 + 1 831 c.268C>T c.(268-270)Ctt>Ttt p.L90F NPR3_ENST00000265074.8_3'UTR CATGTGCCTTCTTTGCCCCAA 0.403000 51 195 0 0 0.870114 0 0 BTN2A2 10385 broad.mit.edu 37 6 26385375 26385375 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:26385375C>T ENST00000356709.4 + 3 338 c.227C>T c.(226-228)tCc>tTc p.S76F BTN2A2_ENST00000469230.1_Missense_Mutation_p.S76F|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.S76F|BTN2A2_ENST00000416795.2_Missense_Mutation_p.S76F NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 76 Ig-like V-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TCTCAGTTCTCCCCCGCAGTG 0.527000 31 40 0 0 0.779181 0 0 NICN1 84276 broad.mit.edu 37 3 49466543 49466543 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:49466543C>T ENST00000273598.3 - 1 216 c.130G>A c.(130-132)Gag>Aag p.E44K NICN1_ENST00000436744.2_Missense_Mutation_p.E44K|NICN1_ENST00000422593.1_5'UTR NM_032316.3 NP_115692.1 Q9BSH3 NICN1_HUMAN nicolin 1 44 microtubule|nucleus kidney(1)|large_intestine(3)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TTGCTCACCTCGAAGGGAGCG 0.647000 24 35 0 0 0.740014 0 0 C11orf35 256329 broad.mit.edu 37 11 558713 558713 + Missense_Mutation SNP C C T rs148047813 byFrequency TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:558713C>T ENST00000329451.3 - 3 274 c.212G>A c.(211-213)cGa>cAa p.R71Q RP11-496I9.1_ENST00000527620.1_RNA NM_173573.2 NP_775844.2 Q8IXW0 CK035_HUMAN chromosome 11 open reading frame 35 71 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTCCAGTTCTCGCTGTCTCCA 0.672000 10 8 0 0 0.335167 0 0 HAND2 9464 broad.mit.edu 37 4 174449906 174449906 + Nonsense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:174449906C>A ENST00000359562.4 - 1 1474 c.535G>T c.(535-537)Gag>Tag p.E179* 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 2 179 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) TTCCTCTTCTCCTCTTTCACG 0.612000 6 27 0.00116845 0.00119166 0.217242 1 0 CTSD 1509 broad.mit.edu 37 11 1774754 1774754 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:1774754G>A ENST00000236671.2 - 9 1350 c.1218C>T c.(1216-1218)ttC>ttT p.F406F RP11-295K3.1_ENST00000427721.1_Intron NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 406 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGCCTCGGCGAAGCCCACCC 0.667000 19 64 0 0 0.654019 0 0 WSB2 55884 broad.mit.edu 37 12 118473077 118473077 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:118473077G>T ENST00000315436.3 - 7 1027 c.886C>A c.(886-888)Ctg>Atg p.L296M WSB2_ENST00000441406.2_Missense_Mutation_p.L313M|WSB2_ENST00000535496.1_Missense_Mutation_p.L298M|WSB2_ENST00000544233.1_Missense_Mutation_p.L86M|WSB2_ENST00000542304.1_Missense_Mutation_p.L71M NM_001278557.1|NM_018639.3 NP_001265486.1|NP_061109.1 Q9NYS7 WSB2_HUMAN WD repeat and SOCS box containing 2 296 intracellular signal transduction breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACAGATCTCAGTGAGCTAATG 0.537000 OREG0022175 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 68 9.65021e-13 1.0127e-12 0.750413 1 0 ZNF329 79673 broad.mit.edu 37 19 58639517 58639517 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:58639517C>T ENST00000598312.1 - 4 1587 c.1354G>A c.(1354-1356)Gag>Aag p.E452K ZNF329_ENST00000358067.4_Missense_Mutation_p.E452K NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TAGGGCTTCTCACCAGTATGA 0.502000 34 87 0 0 0.769981 0 0 UTRN 7402 broad.mit.edu 37 6 144808819 144808819 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:144808819G>C ENST00000367545.3 + 28 3958 c.3958G>C c.(3958-3960)Gat>Cat p.D1320H NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1320 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCGATATGAAGATCTAAGTCA 0.458000 34 92 0 0 0.870114 0 0 CDC27 996 broad.mit.edu 37 17 45216151 45216151 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:45216151G>A ENST00000066544.3 - 13 1751 c.1658C>T c.(1657-1659)tCa>tTa p.S553L CDC27_ENST00000527547.1_Missense_Mutation_p.S552L|CDC27_ENST00000531206.1_Missense_Mutation_p.S559L|CDC27_ENST00000446365.2_Missense_Mutation_p.S492L NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 553 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGACAGAACTGAAAGAGCAAC 0.353000 30 118 0 0 0.729181 0 0 ZNF296 162979 broad.mit.edu 37 19 45579002 45579002 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:45579002G>C ENST00000303809.2 - 2 631 c.417C>G c.(415-417)ctC>ctG p.L139L NM_145288.1 NP_660331.1 Q8WUU4 ZN296_HUMAN zinc finger protein 296 139 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|lung(3)|prostate(1)|urinary_tract(2) 7 GGCCTCTGAAGAGCTGACAGC 0.632000 36 106 0 0 0.812448 0 0 RNF213 57674 broad.mit.edu 37 17 78345702 78345702 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:78345702G>A ENST00000582970.1 + 47 12597 c.12454G>A c.(12454-12456)Gaa>Aaa p.E4152K RNF213_ENST00000508628.2_Missense_Mutation_p.E4201K|RNF213_ENST00000336301.6_Missense_Mutation_p.E2225K|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TTATATTCAGGAATATTTGAC 0.348000 15 51 0 0 0.479597 0 0 ATP13A3 79572 broad.mit.edu 37 3 194140610 194140610 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:194140610G>A ENST00000439040.1 - 31 4191 c.3400C>T c.(3400-3402)Cag>Tag p.Q1134* ATP13A3_ENST00000256031.4_Nonsense_Mutation_p.Q1134* Q9H7F0 AT133_HUMAN ATPase type 13A3 1134 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AGTCTTACCTGAAGAACCTGG 0.318000 43 168 0 0 0.870114 0 0 CSMD1 64478 broad.mit.edu 37 8 3226815 3226815 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:3226815G>C ENST00000520002.1 - 20 3418 c.2863C>G c.(2863-2865)Cta>Gta p.L955V CSMD1_ENST00000539096.1_Missense_Mutation_p.L954V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L954V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L955V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L955V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L954V|CSMD1_ENST00000602723.1_Missense_Mutation_p.L955V Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 955 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTGCAGTTTAGAGAGTTTGGA 0.398000 5 32 0 0 0.217242 0 0 OR8H2 390151 broad.mit.edu 37 11 55872928 55872928 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:55872928C>T ENST00000313503.1 + 1 410 c.410C>T c.(409-411)tCc>tTc p.S137F NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) GTTATTATGTCCAAAAGGCTC 0.468000 HNSCC(53;0.14) 116 280 0 0 0.870114 0 0 STOX1 219736 broad.mit.edu 37 10 70646010 70646010 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:70646010G>A ENST00000298596.6 + 3 2541 c.2458G>A c.(2458-2460)Gaa>Aaa p.E820K STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.E710K|STOX1_ENST00000399169.4_Missense_Mutation_p.E820K NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 820 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 CCTCTCTGCTGAAAGTTGTGG 0.483000 56 65 0 0 0.870114 0 0 SULF1 23213 broad.mit.edu 37 8 70550802 70550802 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:70550802G>A ENST00000260128.4 + 20 3067 c.2350G>A c.(2350-2352)Gag>Aag p.E784K SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.E784K|SULF1_ENST00000419716.3_Missense_Mutation_p.E784K|SULF1_ENST00000402687.4_Missense_Mutation_p.E784K NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 784 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TACAGTTAATGAGACGCATAA 0.343000 40 171 0 0 0.804634 0 0 MYH10 4628 broad.mit.edu 37 17 8413181 8413181 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:8413181C>G ENST00000360416.3 - 25 3177 c.3039G>C c.(3037-3039)aaG>aaC p.K1013N MYH10_ENST00000269243.4_Missense_Mutation_p.K982N|MYH10_ENST00000396239.1_Missense_Mutation_p.K1003N|MYH10_ENST00000379980.4_Missense_Mutation_p.K998N NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 982 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CCTCTTCCATCTTCTTGATCT 0.448000 53 164 0 0 0.870114 0 0 APP 351 broad.mit.edu 37 21 27284272 27284272 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:27284272C>T ENST00000358918.3 - 14 1889 c.1690G>A c.(1690-1692)Gag>Aag p.E564K APP_ENST00000439274.2_Missense_Mutation_p.E508K|APP_ENST00000348990.5_Missense_Mutation_p.E489K|APP_ENST00000448388.2_Missense_Mutation_p.E454K|APP_ENST00000440126.3_Missense_Mutation_p.E540K|APP_ENST00000359726.3_Missense_Mutation_p.E508K|APP_ENST00000346798.3_Missense_Mutation_p.E564K|APP_ENST00000357903.3_Missense_Mutation_p.E545K|APP_ENST00000354192.3_Missense_Mutation_p.E433K NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 564 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) TGAAGCAGCTCATCTAAACCA 0.438000 16 56 0 0 0.520397 0 0 CARD10 29775 broad.mit.edu 37 22 37888526 37888526 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:37888526G>A ENST00000403299.1 - 19 2883 c.2667C>T c.(2665-2667)tcC>tcT p.S889S CARD10_ENST00000406271.3_Silent_p.S603S|CARD10_ENST00000251973.5_Silent_p.S889S Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 889 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) CAGGCGCTGAGGATGGGCACA 0.667000 21 49 0 0 0.575678 0 0 SAP30L 79685 broad.mit.edu 37 5 153835558 153835558 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:153835558G>C ENST00000297109.6 + 4 1170 c.522G>C c.(520-522)caG>caC p.Q174H SAP30L_ENST00000440364.2_Missense_Mutation_p.Q133H|SAP30L_ENST00000426761.2_Missense_Mutation_p.Q128H NM_024632.5 NP_078908.1 Q9HAJ7 SP30L_HUMAN SAP30-like 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|metal ion binding breast(1)|lung(3) 4 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GACTGGACCAGAAATCGGAGG 0.438000 37 163 0 0 0.779181 0 0 EID2B 126272 broad.mit.edu 37 19 40023100 40023100 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:40023100C>G ENST00000326282.4 - 1 394 c.343G>C c.(343-345)Gag>Cag p.E115Q CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron NM_152361.1 NP_689574.1 Q96D98 EID2B_HUMAN EP300 interacting inhibitor of differentiation 2B 115 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(1)|lung(1)|urinary_tract(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGGCGTTCCTCGAAATCCCGT 0.557000 34 60 0 0 0.788014 0 0 CEP170 9859 broad.mit.edu 37 1 243362377 243362377 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:243362377C>T ENST00000366542.1 - 7 667 c.616G>A c.(616-618)Gaa>Aaa p.E206K CEP170_ENST00000366543.1_Missense_Mutation_p.E206K|CEP170_ENST00000366544.1_Missense_Mutation_p.E206K NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 206 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GTTCCAGCTTCATGGTTTTTT 0.403000 4 35 0 0 0.278610 0 0 GUCY2C 2984 broad.mit.edu 37 12 14769618 14769618 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:14769618C>G ENST00000261170.3 - 25 3055 c.2919G>C c.(2917-2919)aaG>aaC p.K973N RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 973 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ACTCAGTTCTCTTCAGGATGG 0.428000 67 208 0 0 0.870114 0 0 EPB41L3 23136 broad.mit.edu 37 18 5410589 5410589 + Silent SNP G G A rs140128908 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:5410589G>A ENST00000341928.2 - 14 2437 c.2097C>T c.(2095-2097)gcC>gcT p.A699A EPB41L3_ENST00000400111.3_Silent_p.A530A|EPB41L3_ENST00000342933.3_Silent_p.A699A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.A530A|EPB41L3_ENST00000540638.2_Silent_p.A530A NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 699 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TCTCCCCGTCGGCTGCGGTGT 0.532000 21 41 0 0 0.654019 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768392 140768392 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:140768392C>A ENST00000519479.1 + 1 941 c.941C>A c.(940-942)tCc>tAc p.S314Y PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_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) AAAGAATATTCCATAGTTTTG 0.408000 38 35 5.04308e-16 5.33769e-16 0.819951 1 0 SWT1 54823 broad.mit.edu 37 1 185143909 185143909 + Silent SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:185143909A>G ENST00000367500.4 + 5 795 c.630A>G c.(628-630)caA>caG p.Q210Q SWT1_ENST00000367501.3_Silent_p.Q210Q NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 210 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 AGAGAAATCAATTTTCTCAGG 0.348000 34 170 0 0 0.812448 0 0 RFC3 5983 broad.mit.edu 37 13 34395395 34395395 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:34395395C>G ENST00000380071.3 + 2 344 c.214C>G c.(214-216)Cag>Gag p.Q72E RFC3_ENST00000434425.1_Missense_Mutation_p.Q72E NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 72 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) AATTGAACATCAGACCATCAC 0.418000 4 127 0 0 0.184627 0 0 TRPA1 8989 broad.mit.edu 37 8 72981315 72981315 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:72981315G>A ENST00000262209.4 - 3 594 c.387C>T c.(385-387)ttC>ttT p.F129F NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 129 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) CCATCATGTTGAAGTTTCGGA 0.478000 22 434 0 0 0.870114 0 0 MPI 4351 broad.mit.edu 37 15 75189514 75189514 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:75189514C>G ENST00000352410.4 + 7 1074 c.1007C>G c.(1006-1008)tCa>tGa p.S336* MPI_ENST00000563786.1_Nonsense_Mutation_p.S316*|MPI_ENST00000323744.6_Nonsense_Mutation_p.S275*|MPI_ENST00000566377.1_Intron|MPI_ENST00000535694.1_Nonsense_Mutation_p.S286* P34949 MPI_HUMAN mannose phosphate isomerase 336 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 CCCTACCTCTCAATCTATGAC 0.517000 64 116 0 0 0.870114 0 0 ZNF343 79175 broad.mit.edu 37 20 2464518 2464518 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:2464518G>A ENST00000278772.4 - 6 1576 c.1089C>T c.(1087-1089)agC>agT p.S363S RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 ATGACTTCTCGCTAAAGCCTC 0.502000 14 62 0 0 0.435327 0 0 DDX24 57062 broad.mit.edu 37 14 94526564 94526564 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:94526564G>A ENST00000330836.5 - 5 1924 c.1793C>T c.(1792-1794)tCc>tTc p.S598F DDX24_ENST00000544005.1_Missense_Mutation_p.S348F|DDX24_ENST00000555054.1_Missense_Mutation_p.S555F NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 598 Helicase C-terminal. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TTTGATGCAGGAGATACTGTT 0.498000 67 42 0 0 0.870114 0 0 ABCA2 20 broad.mit.edu 37 9 139909403 139909403 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:139909403C>T ENST00000265662.5 - 25 3991 c.3844G>A c.(3844-3846)Gag>Aag p.E1282K ABCA2_ENST00000341511.6_Missense_Mutation_p.E1282K|ABCA2_ENST00000371605.3_Missense_Mutation_p.E1281K Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1281 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TTGGCGGCCTCGCTGGGCAGG 0.662000 11 23 0 0 0.411799 0 0 CD3D 915 broad.mit.edu 37 11 118210614 118210614 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:118210614C>G ENST00000300692.4 - 3 418 c.282G>C c.(280-282)caG>caC p.Q94H CD3D_ENST00000529594.1_Missense_Mutation_p.Q21H|CD3D_ENST00000392884.2_Intron NM_000732.4 NP_000723.1 P04234 CD3D_HUMAN CD3d molecule, delta (CD3-TCR complex) 94 positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway cytoplasm|integral to membrane protein heterodimerization activity large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 9 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CCACACAGCTCTGGCACACTG 0.547000 21 74 0 0 0.624587 0 0 IGSF10 285313 broad.mit.edu 37 3 151155740 151155740 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:151155740C>T ENST00000282466.3 - 6 6608 c.6609G>A c.(6607-6609)gtG>gtA p.V2203V IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2203 Ig-like C2-type 8. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CGAGCAGTTTCACTTTGTTGA 0.418000 128 215 0 0 0.870114 0 0 CUL7 9820 broad.mit.edu 37 6 43015985 43015985 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:43015985C>T ENST00000535468.1 - 9 2408 c.2322G>A c.(2320-2322)ctG>ctA p.L774L CUL7_ENST00000265348.3_Silent_p.L690L NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 690 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCAGCTGCTTCAGGATTCTGG 0.617000 47 187 0 0 0.859065 0 0 KCNH7 90134 broad.mit.edu 37 2 163393474 163393474 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:163393474C>G ENST00000332142.5 - 3 523 c.424G>C c.(424-426)Gag>Cag p.E142Q KCNH7_ENST00000328032.4_Missense_Mutation_p.E142Q NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 142 PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTTACCCTCTCTGGGGTGGCA 0.378000 63 184 0 0 0.870114 0 0 ETS2 2114 broad.mit.edu 37 21 40191474 40191474 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:40191474G>A ENST00000360214.3 + 9 1319 c.859G>A c.(859-861)Gag>Aag p.E287K ETS2_ENST00000360938.3_Missense_Mutation_p.E287K NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 287 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) GGACAGCTTCGAGAGCTCAGA 0.552000 16 54 0 0 0.500413 0 0 GH1 2688 broad.mit.edu 37 17 61994806 61994806 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:61994806C>T ENST00000323322.5 - 5 559 c.517G>A c.(517-519)Gac>Aac p.D173N GH1_ENST00000458650.2_Missense_Mutation_p.D158N|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.D78N|GH1_ENST00000351388.4_Missense_Mutation_p.D133N NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 173 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 GAGTTTGTGTCGAACTTGCTG 0.542000 49 128 0 0 0.870114 0 0 DGKQ 1609 broad.mit.edu 37 4 955487 955487 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:955487G>C ENST00000273814.3 - 20 2524 c.2451C>G c.(2449-2451)atC>atG p.I817M NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 817 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TGGGGATGTTGATGAAGATGA 0.652000 16 32 0 0 0.539581 0 0 CDCA7L 55536 broad.mit.edu 37 7 21947813 21947813 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:21947813C>T ENST00000406877.3 - 4 895 c.616G>A c.(616-618)Gag>Aag p.E206K CDCA7L_ENST00000356195.5_Missense_Mutation_p.E172K|CDCA7L_ENST00000373934.4_Missense_Mutation_p.E160K|CDCA7L_ENST00000465490.1_5'UTR NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 206 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 TCCTGGCTCTCATCCCGAGAG 0.463000 22 49 0 0 0.654019 0 0 UTP20 27340 broad.mit.edu 37 12 101767494 101767494 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:101767494G>C ENST00000261637.4 + 54 7254 c.7080G>C c.(7078-7080)gaG>gaC p.E2360D NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2360 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TCAGCCTCGAGAAAAAAGATT 0.423000 39 75 0 0 0.840704 0 0 PLB1 151056 broad.mit.edu 37 2 28741373 28741373 + Missense_Mutation SNP T T C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:28741373T>C ENST00000422425.2 + 3 202 c.158T>C c.(157-159)tTa>tCa p.L53S PLB1_ENST00000327757.5_Missense_Mutation_p.L53S NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 53 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CCAAATAAATTAGGAGTGAAT 0.443000 61 127 0 0 0.870114 0 0 SUCO 51430 broad.mit.edu 37 1 172539802 172539802 + Splice_Site SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:172539802G>C ENST00000367723.3 + 9 1582 c.e9-1 SUCO_ENST00000263688.3_Splice_Site NM_016227.2 NP_057311.2 SUN domain containing ossification factor TTTTAAAATAGAGCACATCTG 0.269000 17 41 0 0 0.520397 0 0 ERN2 10595 broad.mit.edu 37 16 23706664 23706664 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:23706664C>G ENST00000256797.4 - 15 1969 c.1801G>C c.(1801-1803)Gag>Cag p.E601Q ERN2_ENST00000457008.2_Missense_Mutation_p.E501Q NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 553 Protein kinase. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCAAAGCACTCGCGGAGGAGC 0.627000 5 12 0 0 0.248553 0 0 ZNF134 7693 broad.mit.edu 37 19 58132674 58132674 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:58132674G>A ENST00000396161.5 + 3 1497 c.1187G>A c.(1186-1188)gGa>gAa p.G396E NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 396 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GTTCACACTGGAGAAAGGCCA 0.498000 50 168 0 0 0.870114 0 0 UBAP2L 9898 broad.mit.edu 37 1 154223669 154223669 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:154223669C>T ENST00000428931.1 + 13 1533 c.1366C>T c.(1366-1368)Ctg>Ttg p.L456L UBAP2L_ENST00000343815.6_Silent_p.L456L|UBAP2L_ENST00000271877.7_Silent_p.L467L|UBAP2L_ENST00000361546.2_Silent_p.L456L NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 456 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GTCTTCTCCTCTGCCAAGCAA 0.547000 88 142 0 0 0.870114 0 0 TAOK1 57551 broad.mit.edu 37 17 27809270 27809270 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:27809270G>C ENST00000261716.3 + 8 1138 c.619G>C c.(619-621)Gat>Cat p.D207H TAOK1_ENST00000536202.1_Missense_Mutation_p.D207H NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 207 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) TGGCAAAGTAGATGTGTGGTC 0.313000 7 183 0 0 0.278610 0 0 HCN1 348980 broad.mit.edu 37 5 45396681 45396681 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:45396681G>C ENST00000303230.4 - 4 1200 c.1143C>G c.(1141-1143)gtC>gtG p.V381V NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 381 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGGTGGCCCCGACGATCATGC 0.507000 24 60 0 0 0.681144 0 0 BFAR 51283 broad.mit.edu 37 16 14755859 14755859 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:14755859C>T ENST00000261658.2 + 6 1171 c.894C>T c.(892-894)ttC>ttT p.F298F BFAR_ENST00000563971.1_Silent_p.F173F|BFAR_ENST00000426842.2_Silent_p.F170F NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 298 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 TCCTACCTTTCATCCACACCA 0.542000 76 212 0 0 0.870114 0 0 MORC1 27136 broad.mit.edu 37 3 108746617 108746617 + Missense_Mutation SNP A A T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:108746617A>T ENST00000232603.5 - 17 1767 c.1685T>A c.(1684-1686)cTg>cAg p.L562Q MORC1_ENST00000483760.1_Missense_Mutation_p.L562Q NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 562 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CTGTTCTGCCAGTCTATTTTG 0.408000 10 286 0 0 0.387290 0 0 A2M 2 broad.mit.edu 37 12 9227270 9227270 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:9227270G>C ENST00000318602.7 - 29 3949 c.3642C>G c.(3640-3642)ctC>ctG p.L1214L NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 1214 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TGAGATAAGCGAGGAGCACAT 0.587000 12 38 0 0 0.387290 0 0 FDXR 2232 broad.mit.edu 37 17 72858968 72858968 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:72858968G>C ENST00000442102.2 - 12 1662 c.1576C>G c.(1576-1578)Cag>Gag p.Q526E FDXR_ENST00000413947.2_Missense_Mutation_p.Q514E|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000583917.1_Missense_Mutation_p.Q455E|FDXR_ENST00000581530.1_Missense_Mutation_p.Q489E|FDXR_ENST00000420580.2_Missense_Mutation_p.Q443E|FDXR_ENST00000582944.1_Missense_Mutation_p.Q475E|FDXR_ENST00000544854.1_Missense_Mutation_p.Q431E|FDXR_ENST00000293195.5_Missense_Mutation_p.Q483E NM_001258012.1 NP_001244941.1 P22570 ADRO_HUMAN ferredoxin reductase 483 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) AGCATCTCCTGAGGATCCACC 0.687000 34 84 0 0 0.760397 0 0 PSME2 5721 broad.mit.edu 37 14 24614473 24614473 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:24614473C>G ENST00000216802.5 - 5 880 c.241G>C c.(241-243)Gat>Cat p.D81H PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.D70H NM_002818.2 NP_002809.2 Q9UL46 PSME2_HUMAN proteasome (prosome, macropain) activator subunit 2 (PA28 beta) 81 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome activator complex endometrium(1)|lung(3)|prostate(2) 6 GBM - Glioblastoma multiforme(265;0.00839) TCCTGCTTATCTGTTTCCATC 0.463000 6 151 0 0 0.217242 0 0 FAM135B 51059 broad.mit.edu 37 8 139190891 139190891 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:139190891C>G ENST00000395297.1 - 10 1086 c.916G>C c.(916-918)Gat>Cat p.D306H NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 306 p.D306N(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAGGCCAGATCCTTGCTTATC 0.512000 HNSCC(54;0.14) 21 72 0 0 0.608945 0 0 KCNMB1 3779 broad.mit.edu 37 5 169810677 169810677 + Silent SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:169810677C>A ENST00000521859.1 - 3 711 c.312G>T c.(310-312)ctG>ctT p.L104L KCNMB1_ENST00000274629.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 0 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) CCCTCCAGTTCAGTACCTGCT 0.587000 25 55 3.08376e-08 3.18992e-08 0.654019 1 0 DOCK11 139818 broad.mit.edu 37 X 117773418 117773418 + Nonsense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:117773418C>G ENST00000276204.6 + 38 4096 c.4022C>G c.(4021-4023)tCa>tGa p.S1341* DOCK11_ENST00000276202.7_Nonsense_Mutation_p.S1341* Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1341 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 GCCTGGCTGTCAAAACACTTC 0.393000 3 91 0 0 0.150653 0 0 ZNF415 55786 broad.mit.edu 37 19 53612605 53612605 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:53612605C>T ENST00000455735.2 - 7 1157 c.837G>A c.(835-837)atG>atA p.M279I ZNF415_ENST00000601493.1_Start_Codon_SNP_p.M1I|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.M279I|ZNF415_ENST00000440291.1_Missense_Mutation_p.M218I|ZNF415_ENST00000500065.4_Missense_Mutation_p.M231I|ZNF415_ENST00000421033.1_Missense_Mutation_p.M243I|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.M231I Q09FC8 ZN415_HUMAN zinc finger protein 415 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding p.M231I(1) breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) GACGTACAGTCATGTGTGAGC 0.403000 54 134 0 0 0.870114 0 0 PCLO 27445 broad.mit.edu 37 7 82545543 82545543 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:82545543G>A ENST00000423517.2 - 7 12096 c.11759C>T c.(11758-11760)tCa>tTa p.S3920L PCLO_ENST00000333891.8_Missense_Mutation_p.S3920L|PCLO_ENST00000437081.1_Missense_Mutation_p.S640L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3851 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTGATAAGGTGAAACTTGCTG 0.463000 114 440 0 0 0.870114 0 0 SUCO 51430 broad.mit.edu 37 1 172558197 172558197 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:172558197G>C ENST00000367723.3 + 17 2536 c.2412G>C c.(2410-2412)ttG>ttC p.L804F SUCO_ENST00000263688.3_Missense_Mutation_p.L652F NM_016227.2 NP_057311.2 SUN domain containing ossification factor GAACTGCTTTGAGTAAAGGAA 0.393000 25 43 0 0 0.706142 0 0 JAG1 182 broad.mit.edu 37 20 10653358 10653358 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:10653358G>A ENST00000254958.5 - 2 893 c.378C>T c.(376-378)ttC>ttT p.F126F NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 126 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CCGGCCAGGCGAAACTGAAAG 0.652000 Alagille Syndrome 23 49 0 0 0.654019 0 0 OSBPL6 114880 broad.mit.edu 37 2 179201157 179201157 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:179201157G>A ENST00000190611.4 + 9 1163 c.787G>A c.(787-789)Gaa>Aaa p.E263K OSBPL6_ENST00000409045.3_Missense_Mutation_p.E263K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E263K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E263K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E263K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E242K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E263K NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 263 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CAGGTGTGCAGAAGGTTAGTT 0.493000 51 121 0 0 0.870114 0 0 PRKRIP1 79706 broad.mit.edu 37 7 102047920 102047920 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:102047920G>A ENST00000496391.1 + 9 1742 c.432G>A c.(430-432)atG>atA p.M144I PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.M87I|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.M144I|PRKRIP1_ENST00000354783.4_Intron Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 144 nucleolus endometrium(1)|lung(4)|ovary(1) 6 CAAAGAAGATGAAACTTGAAC 0.353000 19 36 0 0 0.624587 0 0 GEN1 348654 broad.mit.edu 37 2 17947933 17947933 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:17947933C>T ENST00000381254.2 + 5 827 c.613C>T c.(613-615)Ctt>Ttt p.L205F SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.L205F NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 205 I-domain. DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AGCAATACTTCTTGGCTGTGA 0.338000 Homologous recombination 23 95 0 0 0.639603 0 0 POM121L12 285877 broad.mit.edu 37 7 53103598 53103598 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:53103598C>G ENST00000408890.4 + 1 250 c.234C>G c.(232-234)atC>atG p.I78M NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 78 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCACCTCATCGAGGTGCGGC 0.716000 4 27 0 0 0.278610 0 0 AKAP6 9472 broad.mit.edu 37 14 33291388 33291388 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:33291388G>A ENST00000280979.4 + 13 4539 c.4369G>A c.(4369-4371)Gaa>Aaa p.E1457K AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1457 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TTTGGGAGAAGAATTACAAGG 0.363000 35 28 0 0 0.769981 0 0 TMC1 117531 broad.mit.edu 37 9 75435903 75435903 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:75435903C>T ENST00000297784.5 + 20 2449 c.1909C>T c.(1909-1911)Ctg>Ttg p.L637L TMC1_ENST00000396237.3_Silent_p.L637L|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Silent_p.L637L NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 637 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TAACTTCTACCTGGGCATGCT 0.493000 107 249 0 0 0.870114 0 0 DNHD1 144132 broad.mit.edu 37 11 6519765 6519765 + Missense_Mutation SNP T T G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:6519765T>G ENST00000254579.6 + 3 884 c.320T>G c.(319-321)tTc>tGc p.F107C DNHD1_ENST00000527990.2_Missense_Mutation_p.F107C|DNHD1_ENST00000354685.3_Missense_Mutation_p.F107C|DNHD1_ENST00000477562.1_3'UTR NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 107 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TTGCTGCCCTTCCTGGAGCAG 0.567000 6 306 0 0 0.217242 0 0 FOXC2 2303 broad.mit.edu 37 16 86601587 86601587 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:86601587G>A ENST00000320354.4 + 1 731 c.646G>A c.(646-648)Gag>Aag p.E216K NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 216 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 GATCAAGAGCGAGGCGGCGTC 0.756000 Late-onset Hereditary Lymphedema 4 2 0 0 0.150653 0 0 ADAM22 53616 broad.mit.edu 37 7 87564431 87564431 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:87564431C>T ENST00000398204.4 + 2 499 c.176C>T c.(175-177)tCg>tTg p.S59L ADAM22_ENST00000398209.3_Missense_Mutation_p.S59L|ADAM22_ENST00000439864.1_Missense_Mutation_p.S59L|ADAM22_ENST00000265727.7_Missense_Mutation_p.S59L|ADAM22_ENST00000398201.4_Missense_Mutation_p.S59L|ADAM22_ENST00000315984.7_Missense_Mutation_p.S59L NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 59 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ATCTACCGCTCGGGCGGCGAA 0.667000 15 52 0 0 0.479597 0 0 CSMD3 114788 broad.mit.edu 37 8 114290824 114290824 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:114290824C>T ENST00000297405.5 - 3 755 c.511G>A c.(511-513)Gaa>Aaa p.E171K CSMD3_ENST00000343508.3_Missense_Mutation_p.E131K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E171K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E171K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 171 CUB 1. 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 CACTTACCTTCGTAATATACC 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 95 0 0 0.608945 0 0 SLC25A6 293 broad.mit.edu 37 X 1508132 1508132 + Splice_Site SNP A A G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:1508132A>G ENST00000381401.5 - 2 1313 c.e2+1 SLC25A6_ENST00000475167.1_Splice_Site NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) agccACACGTACCCTTGGCCG 0.632000 9 108 0 0 0.335167 0 0 MEIS3 56917 broad.mit.edu 37 19 47912796 47912796 + Missense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:47912796C>A ENST00000331559.5 - 7 996 c.555G>T c.(553-555)atG>atT p.M185I MEIS3_ENST00000561096.1_Missense_Mutation_p.M290I|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000559524.1_Missense_Mutation_p.M202I|MEIS3_ENST00000441740.2_Missense_Mutation_p.M185I|MEIS3_ENST00000558555.1_Missense_Mutation_p.M202I|MEIS3_ENST00000561293.1_Missense_Mutation_p.M202I NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 202 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) CTCGAATCCACATATTATTCT 0.567000 44 124 2.26627e-22 2.42155e-22 0.834066 1 0 SEMG2 6407 broad.mit.edu 37 20 43850534 43850534 + Missense_Mutation SNP G G C rs147702753 byFrequency TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:43850534G>C ENST00000372769.3 + 2 351 c.261G>C c.(259-261)ttG>ttC p.L87F NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 87 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) AATATGATTTGAATGCCCTAC 0.363000 35 90 0 0 0.769981 0 0 JARID2 3720 broad.mit.edu 37 6 15496939 15496939 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:15496939G>C ENST00000341776.2 + 7 1727 c.1483G>C c.(1483-1485)Gag>Cag p.E495Q JARID2_ENST00000541660.1_Missense_Mutation_p.E457Q|JARID2_ENST00000397311.3_Missense_Mutation_p.E323Q NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 495 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GCGCAGTCTGGAGAGGAATCG 0.662000 26 26 0 0 0.729181 0 0 TPK1 27010 broad.mit.edu 37 7 144288620 144288620 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:144288620C>T ENST00000549981.1 - 9 769 c.46G>A c.(46-48)Gac>Aac p.D16N TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000360057.3_Missense_Mutation_p.D133N Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 133 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) ATAATCTGGTCAAAACGCCCA 0.428000 35 118 0 0 0.804634 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022334 51022334 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:51022334G>A ENST00000599957.1 - 3 833 c.636C>T c.(634-636)ctC>ctT p.L212L LRRC4B_ENST00000389201.3_Silent_p.L212L Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 212 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) TGCCCAGGTTGAGGTAGCGCA 0.677000 14 23 0 0 0.435327 0 0 TRIM23 373 broad.mit.edu 37 5 64910040 64910040 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:64910040G>C ENST00000231524.9 - 3 622 c.251C>G c.(250-252)tCa>tGa p.S84* TRIM23_ENST00000381018.3_Nonsense_Mutation_p.S84*|TRIM23_ENST00000274327.7_Nonsense_Mutation_p.S84* NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 84 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) CCAGACACCTGAATCACCTAG 0.328000 47 101 0 0 0.870114 0 0 VPS13A 23230 broad.mit.edu 37 9 79834959 79834959 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:79834959G>C ENST00000360280.3 + 11 1104 c.844G>C c.(844-846)Gag>Cag p.E282Q VPS13A_ENST00000376634.4_Missense_Mutation_p.E282Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.E282Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.E282Q NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 282 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTTGGAAATTGAGTTACATAA 0.294000 37 85 0 0 0.788014 0 0 CACNA1C 775 broad.mit.edu 37 12 2774834 2774834 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:2774834G>C ENST00000399655.1 + 36 4751 c.4486G>C c.(4486-4488)Gag>Cag p.E1496Q CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1521Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1485Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1516Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1518Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E1544Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1485Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1483Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1513Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1524Q NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1544 Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCACCTGGATGAGTTTAAAAG 0.493000 29 56 0 0 0.706142 0 0 WFIKKN1 117166 broad.mit.edu 37 16 682690 682690 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:682690G>A ENST00000319070.2 + 2 602 c.280G>A c.(280-282)Gag>Aag p.E94K NM_053284.2 NP_444514.1 Q96NZ8 WFKN1_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 94 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1) 4 Hepatocellular(780;0.00335) GGCCTCCTGCGAGGGCTTTGT 0.682000 5 14 0 0 0.217242 0 0 HIST2H2AB 317772 broad.mit.edu 37 1 149859411 149859411 + Nonsense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:149859411G>T ENST00000331128.3 - 1 55 c.56C>A c.(55-57)tCg>tAg p.S19* NM_175065.2 NP_778235.1 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 19 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) AGCGCGGGACGAGCGCGACTT 0.622000 58 125 3.30712e-30 3.56151e-30 0.870114 1 0 DOPEY1 23033 broad.mit.edu 37 6 83848789 83848789 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:83848789G>C ENST00000349129.2 + 21 5288 c.5028G>C c.(5026-5028)caG>caC p.Q1676H DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1667H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1657H NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1676 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AAGTTCTGCAGAGAGTGGTTG 0.403000 3 124 0 0 0.115264 0 0 HECTD4 283450 broad.mit.edu 37 12 112711540 112711540 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:112711540G>A ENST00000550722.1 - 11 1824 c.1429C>T c.(1429-1431)Cag>Tag p.Q477* HECTD4_ENST00000430131.2_Nonsense_Mutation_p.Q189*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q439* NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TTACACCACTGATCGATATAG 0.473000 51 136 0 0 0.870114 0 0 ZNF358 140467 broad.mit.edu 37 19 7585641 7585641 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:7585641G>A ENST00000597229.1 + 2 1683 c.1513G>A c.(1513-1515)Gac>Aac p.D505N ZNF358_ENST00000394341.2_Missense_Mutation_p.D505N NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 505 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 CGCTGGTCCCGACCTTGTGCC 0.652000 33 97 0 0 0.760397 0 0 METTL21A 151194 broad.mit.edu 37 2 208477997 208477997 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:208477997C>T ENST00000411432.1 - 4 646 c.430G>A c.(430-432)Gat>Aat p.D144N METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000426075.1_Missense_Mutation_p.D144N|METTL21A_ENST00000448007.2_Missense_Mutation_p.D144N|METTL21A_ENST00000442521.1_Missense_Mutation_p.D144N|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000406927.2_Missense_Mutation_p.D144N|METTL21A_ENST00000272839.3_Missense_Mutation_p.D162N NM_001127395.1 NP_001120867.1 Q8WXB1 MT21A_HUMAN methyltransferase like 21A 144 integral to membrane methyltransferase activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1) 10 TATATGATATCAGCACCAAGT 0.393000 56 122 0 0 0.870114 0 0 KEAP1 9817 broad.mit.edu 37 19 10610625 10610625 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:10610625C>G ENST00000171111.5 - 2 632 c.85G>C c.(85-87)Gac>Cac p.D29H KEAP1_ENST00000393623.2_Missense_Mutation_p.D29H NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ATCACCGCGTCCCCTGCCCCC 0.642000 38 124 0 0 0.796494 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86916572 86916572 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:86916572G>A ENST00000395184.1 + 9 2231 c.1765G>A c.(1765-1767)Gag>Aag p.E589K ARHGAP24_ENST00000264343.4_Missense_Mutation_p.E496K|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.E494K NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 589 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GGGGAACTTTGAGGACCCTGT 0.557000 51 130 0 0 0.870114 0 0 TMPRSS5 80975 broad.mit.edu 37 11 113563881 113563881 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:113563881C>G ENST00000299882.5 - 9 1024 c.876G>C c.(874-876)gaG>gaC p.E292D TMPRSS5_ENST00000544634.1_Missense_Mutation_p.E223D|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.E283D|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.E179D|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.E248D|TMPRSS5_ENST00000545265.1_5'UTR|TMPRSS5_ENST00000540540.1_Missense_Mutation_p.E33D|TMPRSS5_ENST00000536856.1_Missense_Mutation_p.E33D NM_030770.2 NP_110397.2 Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 292 Peptidase S1. proteolysis integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) GGATAATCCTCTCCACCAGAG 0.637000 6 9 0 0 0.217242 0 0 WDFY3 23001 broad.mit.edu 37 4 85617288 85617288 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:85617288G>C ENST00000322366.6 - 57 9092 c.8685C>G c.(8683-8685)gaC>gaG p.D2895E WDFY3_ENST00000295888.4_Missense_Mutation_p.D2912E Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2912 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CGAAGATTAAGTCAATCCACT 0.408000 51 169 0 0 0.870114 0 0 NAT16 375607 broad.mit.edu 37 7 100815677 100815677 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:100815677C>G ENST00000300303.2 - 4 1031 c.793G>C c.(793-795)Gag>Cag p.E265Q NAT16_ENST00000455377.1_Missense_Mutation_p.E265Q NM_198571.2 NP_940973.2 Q8N8M0 CG052_HUMAN N-acetyltransferase 16 (GCN5-related, putative) 265 N-acetyltransferase activity ACGCGCCACTCCAGGCCCTTG 0.711000 3 10 0 0 0.115264 0 0 CLEC1A 51267 broad.mit.edu 37 12 10251525 10251525 + Translation_Start_Site SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr12:10251525G>C ENST00000315330.4 - 0 59 CLEC1A_ENST00000457018.2_De_novo_Start_InFrame|CLEC1A_ENST00000420265.2_De_novo_Start_InFrame NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 CCTGCATCTGGATTCCTACAG 0.552000 14 14 0 0 0.457914 0 0 SIK1 150094 broad.mit.edu 37 21 44841567 44841567 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:44841567G>C ENST00000270162.6 - 5 582 c.450C>G c.(448-450)ctC>ctG p.L150L NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 150 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 TCTCGGTCTTGAGGTCCCGGT 0.617000 12 51 0 0 0.435327 0 0 DACT3 147906 broad.mit.edu 37 19 47151760 47151760 + Silent SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:47151760G>C ENST00000391916.2 - 4 1942 c.1869C>G c.(1867-1869)ctC>ctG p.L623L DACT3_ENST00000300875.4_Silent_p.L398L NM_145056.2 NP_659493.2 Q96B18 DACT3_HUMAN dishevelled-binding antagonist of beta-catenin 3 623 lung(1) 1 Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325) TCATGACCTTGAGAGAACCCG 0.562000 108 372 0 0 0.870114 0 0 GALNT10 55568 broad.mit.edu 37 5 153755896 153755896 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr5:153755896C>T ENST00000297107.6 + 5 765 c.628C>T c.(628-630)Cga>Tga p.R210* GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Nonsense_Mutation_p.R210* NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 210 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R210*(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GAGGATTCTTCGAACCAAGAA 0.502000 60 179 0 0 0.870114 0 0 VWA8 23078 broad.mit.edu 37 13 42393495 42393495 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:42393495G>A ENST00000379310.3 - 15 1796 c.1728C>T c.(1726-1728)ttC>ttT p.F576F VWA8_ENST00000281496.6_Silent_p.F576F NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 CAATGATTCTGAAGGAGGGAT 0.368000 22 66 0 0 0.639603 0 0 CLIC6 54102 broad.mit.edu 37 21 36079593 36079593 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr21:36079593G>C ENST00000360731.3 + 3 1444 c.1444G>C c.(1444-1446)Gag>Cag p.E482Q CLIC6_ENST00000349499.2_Missense_Mutation_p.E464Q Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 482 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 TTATGATGGTGAGAGTATCGG 0.423000 20 78 0 0 0.608945 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135106655 135106655 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr10:135106655C>T ENST00000368563.2 - 7 1268 c.912G>A c.(910-912)ctG>ctA p.L304L TUBGCP2_ENST00000543663.1_Silent_p.L332L|TUBGCP2_ENST00000252936.3_Silent_p.L304L|TUBGCP2_ENST00000417178.2_Silent_p.L174L NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 304 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) ACACCAGAATCAGGTGCTCCT 0.592000 53 43 0 0 0.870114 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499414 34499414 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:34499414G>A ENST00000538621.1 + 9 1320 c.1075G>A c.(1075-1077)Gag>Aag p.E359K PACSIN1_ENST00000374043.2_Missense_Mutation_p.E317K|PACSIN1_ENST00000244458.2_Missense_Mutation_p.E359K NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 359 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 CTACGCCACCGAGTGGTCAGA 0.647000 5 187 0 0 0.217242 0 0 BBX 56987 broad.mit.edu 37 3 107520042 107520042 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:107520042G>C ENST00000416476.2 + 16 1863 c.1643G>C c.(1642-1644)gGa>gCa p.G548A BBX_ENST00000402543.1_Silent_p.R834R|BBX_ENST00000406780.1_Silent_p.R854R|BBX_ENST00000415149.2_Silent_p.R854R|BBX_ENST00000325805.8_Silent_p.R884R Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) GGGAGACGCGGAGCAGTACTC 0.527000 41 46 0 0 0.812448 0 0 CPLX4 339302 broad.mit.edu 37 18 56964048 56964048 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:56964048G>C ENST00000299721.3 - 3 551 c.365C>G c.(364-366)tCt>tGt p.S122C CPLX4_ENST00000587244.1_Intron NM_181654.3 NP_857637.1 Q7Z7G2 CPLX4_HUMAN complexin 4 122 exocytosis|neurotransmitter transport cell junction|synapse syntaxin binding autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 16 Colorectal(73;0.175) CCCAAGAATAGAATCTTTATC 0.428000 19 57 0 0 0.557998 0 0 PDIA3 2923 broad.mit.edu 37 15 44058971 44058971 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:44058971C>G ENST00000300289.5 + 8 1039 c.891C>G c.(889-891)ctC>ctG p.L297L PDIA3_ENST00000538521.1_Silent_p.L277L NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 297 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) GGCACAAACTCAACTTTGCTG 0.458000 19 47 0 0 0.575678 0 0 ZNF331 55422 broad.mit.edu 37 19 54080889 54080889 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:54080889G>C ENST00000253144.9 + 7 2408 c.1075G>C c.(1075-1077)Gaa>Caa p.E359Q ZNF331_ENST00000449416.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000411977.2_Missense_Mutation_p.E359Q|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000511593.2_Missense_Mutation_p.E359Q|ZNF331_ENST00000513999.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000512387.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000511154.1_Missense_Mutation_p.E359Q NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) CAAGTGCACAGAATGTGGGAA 0.527000 T ? follicular thyroid adenoma 22 64 0 0 0.639603 0 0 CACNA1G 8913 broad.mit.edu 37 17 48649387 48649387 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:48649387G>A ENST00000352832.5 + 5 1107 c.735G>A c.(733-735)gaG>gaA p.E245E CACNA1G_ENST00000510115.1_Silent_p.E245E|CACNA1G_ENST00000513964.1_Silent_p.E245E|CACNA1G_ENST00000359106.5_Silent_p.E245E|CACNA1G_ENST00000512389.1_Silent_p.E245E|CACNA1G_ENST00000513689.2_Silent_p.E245E|CACNA1G_ENST00000514079.1_Silent_p.E245E|CACNA1G_ENST00000507510.2_Silent_p.E245E|CACNA1G_ENST00000507336.1_Silent_p.E245E|CACNA1G_ENST00000358244.5_Silent_p.E245E|CACNA1G_ENST00000360761.4_Silent_p.E245E|CACNA1G_ENST00000514181.1_Silent_p.E245E|CACNA1G_ENST00000354983.4_Silent_p.E245E|CACNA1G_ENST00000507609.1_Silent_p.E245E|CACNA1G_ENST00000503485.1_Silent_p.E245E|CACNA1G_ENST00000502264.1_Silent_p.E245E|CACNA1G_ENST00000507896.1_Silent_p.E245E|CACNA1G_ENST00000416767.4_Silent_p.E245E|CACNA1G_ENST00000505165.1_Silent_p.E245E|CACNA1G_ENST00000515765.1_Silent_p.E245E|CACNA1G_ENST00000429973.2_Silent_p.E245E|CACNA1G_ENST00000442258.2_Silent_p.E245E|CACNA1G_ENST00000515411.1_Silent_p.E245E|CACNA1G_ENST00000515165.1_Silent_p.E245E|CACNA1G_ENST00000514717.1_Silent_p.E245E|CACNA1G_ENST00000510366.1_Silent_p.E245E NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 245 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCCTACCTGAGAATTTCAGCC 0.597000 13 44 0 0 0.457914 0 0 POSTN 10631 broad.mit.edu 37 13 38153456 38153456 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr13:38153456C>T ENST00000379747.4 - 13 1818 c.1701G>A c.(1699-1701)ctG>ctA p.L567L POSTN_ENST00000379749.4_Silent_p.L567L|POSTN_ENST00000541481.1_Silent_p.L567L|POSTN_ENST00000379742.4_Silent_p.L567L|POSTN_ENST00000379743.4_Silent_p.L567L|POSTN_ENST00000541179.1_Silent_p.L567L NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 567 FAS1 4. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CTCCTGGTGTCAGGTGATAAA 0.323000 8 127 0 0 0.278610 0 0 WNK4 65266 broad.mit.edu 37 17 40948596 40948596 + Splice_Site SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:40948596G>A ENST00000246914.5 + 18 3750 c.3729_splice c.e18+1 p.1243_splice NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 0 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TTGGCAGGATGGTGAGGGCGG 0.607000 19 74 0 0 0.557998 0 0 DNAJC30 84277 broad.mit.edu 37 7 73097515 73097515 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:73097515C>T ENST00000395176.2 - 1 268 c.239G>A c.(238-240)cGc>cAc p.R80H WBSCR22_ENST00000464615.1_3'UTR NM_032317.2 NP_115693.2 Q96LL9 DJC30_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 30 80 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1) 4 CCCGGAGTTGCGGTCCGGGTG 0.667000 4 133 0 0 0.150653 0 0 IL17RA 23765 broad.mit.edu 37 22 17583169 17583169 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr22:17583169G>C ENST00000319363.6 + 7 872 c.739G>C c.(739-741)Gag>Cag p.E247Q NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 247 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CAGTTGCTTTGAGCACATGCA 0.547000 56 145 0 0 0.870114 0 0 EIF4G1 1981 broad.mit.edu 37 3 184033995 184033995 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:184033995C>T ENST00000342981.4 + 3 550 c.136C>T c.(136-138)Cag>Tag p.Q46* EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.Q6*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.Q46*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000427845.1_Intron|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.Q6*|EIF4G1_ENST00000392537.2_Intron|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.Q46* NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 46 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CACGCCTTCTCAGCCCCGCCA 0.617000 12 114 0 0 0.435327 0 0 PPP4R1 9989 broad.mit.edu 37 18 9570206 9570206 + Nonsense_Mutation SNP C C A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr18:9570206C>A ENST00000400556.3 - 11 1595 c.1522G>T c.(1522-1524)Gaa>Taa p.E508* PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.E491* NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 508 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 ATCATTTCTTCCAGTTCCTTT 0.428000 53 174 1.54043e-34 1.66914e-34 0.870114 1 0 FIGN 55137 broad.mit.edu 37 2 164466133 164466133 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:164466133G>A ENST00000333129.3 - 3 2523 c.2209C>T c.(2209-2211)Cag>Tag p.Q737* FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 737 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 ATGCTAGGCTGAATCTTGCAG 0.413000 27 113 0 0 0.681144 0 0 TRAF7 84231 broad.mit.edu 37 16 2222339 2222339 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:2222339G>A ENST00000326181.6 + 8 755 c.623G>A c.(622-624)cGa>cAa p.R208Q NM_032271.2 NP_115647.2 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7, E3 ubiquitin protein ligase 208 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 GTGGACCCCCGAGGGTGCCCC 0.687000 9 34 0 0 0.335167 0 0 C9orf131 138724 broad.mit.edu 37 9 35043827 35043827 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:35043827G>C ENST00000312292.5 + 2 1248 c.1201G>C c.(1201-1203)Gag>Cag p.E401Q C9orf131_ENST00000354479.5_Missense_Mutation_p.E328Q|C9orf131_ENST00000421362.2_Missense_Mutation_p.E353Q NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 401 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) ACTCCAGAGAGAGAGTTCCCT 0.532000 4 153 0 0 0.150653 0 0 DDHD1 80821 broad.mit.edu 37 14 53513591 53513591 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:53513591C>T ENST00000357758.3 - 12 2697 c.2514G>A c.(2512-2514)tcG>tcA p.S838S DDHD1_ENST00000323669.5_Silent_p.S866S|DDHD1_ENST00000395606.1_Silent_p.S845S NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 866 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) AGGCAGTATGCGACGTGACAG 0.408000 4 116 0 0 0.184627 0 0 KCNA4 3739 broad.mit.edu 37 11 30033388 30033388 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:30033388C>T ENST00000328224.6 - 2 2071 c.838G>A c.(838-840)Gaa>Aaa p.E280K NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 280 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GCCCTGTCTTCCTCTTCTCTC 0.507000 32 95 0 0 0.729181 0 0 PTK2 5747 broad.mit.edu 37 8 141828403 141828403 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:141828403G>C ENST00000522684.1 - 10 1069 c.840C>G c.(838-840)atC>atG p.I280M PTK2_ENST00000519419.1_Missense_Mutation_p.I324M|PTK2_ENST00000340930.3_Missense_Mutation_p.I280M|PTK2_ENST00000521059.1_Missense_Mutation_p.I280M|PTK2_ENST00000535192.1_Missense_Mutation_p.I280M|PTK2_ENST00000395218.2_Missense_Mutation_p.I280M|PTK2_ENST00000517887.1_Missense_Mutation_p.I324M NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 280 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TTAGGTAACTGATTCCTTCTT 0.438000 43 120 0 0 0.859065 0 0 PHLDB1 23187 broad.mit.edu 37 11 118499169 118499169 + Silent SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:118499169C>T ENST00000361417.2 + 7 2041 c.1630C>T c.(1630-1632)Ctg>Ttg p.L544L PHLDB1_ENST00000356063.5_Silent_p.L544L NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 544 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) AGCCTACAGTCTGGGCTCTCT 0.642000 11 24 0 0 0.361761 0 0 SCN1A 6323 broad.mit.edu 37 2 166848631 166848631 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr2:166848631G>C ENST00000423058.2 - 26 5171 c.5154C>G c.(5152-5154)ttC>ttG p.F1718L SCN1A_ENST00000409050.1_Missense_Mutation_p.F1690L|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.F1718L|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1707L|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1718 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTGTAATTTGGAATAGGCAGA 0.468000 48 239 0 0 0.870114 0 0 SNRNP70 6625 broad.mit.edu 37 19 49611111 49611111 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:49611111G>A ENST00000221448.5 + 10 894 c.698G>A c.(697-699)aGa>aAa p.R233K SNRNP70_ENST00000598441.1_Missense_Mutation_p.R242K NM_003089.4 NP_003080.2 P08621 RU17_HUMAN small nuclear ribonucleoprotein 70kDa (U1) 242 Arg/Glu-rich (mixed charge). nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 CGGGAGCGCAGAGAGCGGAGC 0.746000 4 9 0 0 0.150653 0 0 UBAP2L 9898 broad.mit.edu 37 1 154197669 154197669 + Nonsense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:154197669C>T ENST00000428931.1 + 2 237 c.70C>T c.(70-72)Cag>Tag p.Q24* UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.Q24*|UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.Q24*|UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.Q24* NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 24 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AAACCAGACACAGCACAAGCA 0.453000 6 66 0 0 0.307466 0 0 THAP5 168451 broad.mit.edu 37 7 108204874 108204874 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:108204874C>G ENST00000415914.3 - 3 1102 c.949G>C c.(949-951)Gtt>Ctt p.V317L THAP5_ENST00000313516.5_Missense_Mutation_p.V275L|THAP5_ENST00000493722.1_5'UTR NM_001130475.1 NP_001123947.1 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 317 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 ATTTGTAAAACTTCTGTCCCA 0.348000 54 191 0 0 0.870114 0 0 KCTD21 283219 broad.mit.edu 37 11 77884871 77884871 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:77884871G>A ENST00000340067.3 - 2 1008 c.730C>T c.(730-732)Cat>Tat p.H244Y KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000600795.1_RNA NM_001029859.1 NP_001025030.1 Q4G0X4 KCD21_HUMAN potassium channel tetramerization domain containing 21 244 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2) 11 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) TCCAGAGCATGTGGGTGAGAA 0.478000 66 241 0 0 0.870114 0 0 DPM1 8813 broad.mit.edu 37 20 49552791 49552791 + Missense_Mutation SNP C C T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr20:49552791C>T ENST00000371582.4 - 9 684 c.653G>A c.(652-654)cGa>cAa p.R218Q DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371588.5_Missense_Mutation_p.R191Q|DPM1_ENST00000371583.5_Missense_Mutation_p.R186Q|RP5-914P20.5_ENST00000558899.2_RNA O60762 DPM1_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 191 C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 7 AACTTCTTTTCGGTATAATCT 0.318000 21 54 0 0 0.575678 0 0 TLE1 7088 broad.mit.edu 37 9 84205745 84205745 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:84205745C>G ENST00000376499.3 - 16 2868 c.1804G>C c.(1804-1806)Gat>Cat p.D602H NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 602 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 TTGTGCAGATCCCACACAGCG 0.597000 46 130 0 0 0.864702 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123173693 123173693 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr9:123173693G>C ENST00000349780.4 - 29 4536 c.4357C>G c.(4357-4359)Cat>Gat p.H1453D CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1412D|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1421D|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.H1453D NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1453 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding p.H1453Y(1) breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CTCAAGAAATGAATTTCTGAT 0.398000 6 206 0 0 0.217242 0 0 WDYHV1 55093 broad.mit.edu 37 8 124449572 124449572 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:124449572G>C ENST00000523984.1 + 5 554 c.326G>C c.(325-327)gGa>gCa p.G109A WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.G169A|WDYHV1_ENST00000518125.1_Missense_Mutation_p.G21A|WDYHV1_ENST00000287387.2_Missense_Mutation_p.G169A Q96HA8 NTAQ1_HUMAN WDYHV motif containing 1 169 protein modification process cytosol|nucleus protein binding|protein N-terminal glutamine amidohydrolase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3) 17 ATTGAGACTGGAGGTGAGCCA 0.458000 7 69 0 0 0.520397 0 0 USH2A 7399 broad.mit.edu 37 1 216498758 216498758 + Frame_Shift_Del DEL A A - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr1:216498758delA ENST00000366943.2 - 6 1418 c.1032delT c.(1030-1032)ttfs p.F344fs USH2A_ENST00000366942.3_Frame_Shift_Del_p.F344fs|USH2A_ENST00000307340.3_Frame_Shift_Del_p.F344fs O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 344 Laminin N-terminal. 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) TATCATTGACAAAAGAGAGAG 0.408 HNSCC(13;0.011) 48 116 --- --- --- --- PLXNA1 5361 broad.mit.edu 37 3 126736358 126736358 + Frame_Shift_Del DEL C C - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr3:126736358delC ENST00000393409.2 + 17 3367 c.3367delC c.(3367-3369)cgfs p.P1123fs PLXNA1_ENST00000251772.4_Frame_Shift_Del_p.P1100fs NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1123 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GGGGGAGCGGCCGGATGAGCT 0.637 84 167 --- --- --- --- LOC152578 152578 broad.mit.edu 37 4 53661752 53661765 + RNA DEL AAGAAAGAGAGAGA AAGAAAGAGAGAGA - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:53661752_53661765delAAGAAAGAGAGAGA ENST00000514957.1 + 0 321 NR_040106.1 ggaaggaaggaagaaagagagagaaagaaagaga 0.407 3 4 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155155862 155155862 + Frame_Shift_Del DEL G G - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr4:155155862delG ENST00000357232.3 - 25 8576 c.8577delC c.(8575-8577)ccfs p.P2859fs NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2859 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CAAGATGGTAGGGGATGGGAG 0.542 47 189 --- --- --- --- FAM120B 84498 broad.mit.edu 37 6 170627660 170627695 + In_Frame_Del DEL CCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA CCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA - rs148592361 byFrequency TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr6:170627660_170627695delCCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA ENST00000476287.1 + 2 1290_1325 c.1182_1217delCCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGA c.(1180-1218)ggc>gg p.GPESRREVPMCSD394del FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_In_Frame_Del_p.GPESRREVPMCSD406del|FAM120B_ENST00000537664.1_In_Frame_Del_p.GPESRREVPMCSD417del NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 394 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.G394fs*81(1)|p.S397F(1) endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CGTGTACAGGCCCTGAATCCAGGCGAGAAGTTCCCATGTGTTCAGACCCTGAACCC 0.530 156 417 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 2 4 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 5 4 --- --- --- --- EPPK1 83481 broad.mit.edu 37 8 144942429 144942435 + Frame_Shift_Del DEL GGAAGAG GGAAGAG - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr8:144942429_144942435delGGAAGAG ENST00000525985.1 - 2 5058_5064 c.4987_4993delCTCTTCC c.(4987-4995)agfs p.LFQ1663fs P58107 EPIPL_HUMAN epiplakin 1 1663 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGCATGGCCTGGAAGAGGGAGATCTGC 0.647 22 161 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 12 80 --- --- --- --- DPAGT1 1798 broad.mit.edu 37 11 118971068 118971069 + Frame_Shift_Ins INS - - A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr11:118971068_118971069insA ENST00000409993.2 - 6 2097_2098 c.546_547insT c.(544-549)aaccatfs p.H183fs DPAGT1_ENST00000432443.2_Frame_Shift_Ins_p.H76fs|DPAGT1_ENST00000354202.4_Frame_Shift_Ins_p.H183fs Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 183 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) ATATTGATGGCATTGGTACAGA 0.500 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 124 --- --- --- --- TRAV12-3 28672 broad.mit.edu 37 14 22433684 22433684 + RNA DEL T T - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr14:22433684delT ENST00000390442.3 + 0 5 TTTGTTATTATTTTTTTTTCG 0.353 36 24 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25474009 25474009 + RNA DEL G G - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr15:25474009delG ENST00000453082.2 + 0 1321 NR_003343.1 CCTCTGGTGCGCTGAAACTCT 0.597 11 48 --- --- --- --- FUS 2521 broad.mit.edu 37 16 31193962 31193962 + Frame_Shift_Del DEL C C - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:31193962delC ENST00000254108.7 + 3 272 c.167delC c.(166-168)ttfs p.S57fs RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000380244.3_Frame_Shift_Del_p.S57fs|FUS_ENST00000568685.1_Frame_Shift_Del_p.S57fs NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 57 Gln/Gly/Ser/Tyr-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) AGCAGCTATTCTTCTTATGGC 0.493 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 7 213 --- --- --- --- FBXO31 79791 broad.mit.edu 37 16 87367559 87367560 + Frame_Shift_Ins INS - - C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr16:87367559_87367560insC ENST00000311635.7 - 8 1341_1342 c.1329_1330insG c.(1327-1332)ggagccfs p.A444fs RP11-178L8.4_ENST00000568879.1_Frame_Shift_Ins_p.E107fs NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 444 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) ACGAACGGCTGCCCCTGCCCAC 0.678 8 85 --- --- --- --- SMURF2P1 0 broad.mit.edu 37 17 28985813 28985814 + RNA INS - - A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:28985813_28985814insA ENST00000578265.1 + 0 377 aaggaaggaagggctgggcgca 0.535 4 7 --- --- --- --- TMEM132E 124842 broad.mit.edu 37 17 32962027 32962027 + Frame_Shift_Del DEL G G - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:32962027delG ENST00000321639.5 + 8 1956 c.1628delG c.(1627-1629)cgfs p.R543fs NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 543 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GACTTCATGCGGGTGGGCGAT 0.617 23 80 --- --- --- --- ACSF2 80221 broad.mit.edu 37 17 48551078 48551082 + Frame_Shift_Del DEL AAGGA AAGGA - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr17:48551078_48551082delAAGGA ENST00000427954.2 + 14 1646_1650 c.1603_1607delAAGGA c.(1603-1608)tfs p.KD535fs ACSF2_ENST00000300441.4_Frame_Shift_Del_p.KD510fs|ACSF2_ENST00000502667.1_Frame_Shift_Del_p.KD497fs|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000541920.1_Frame_Shift_Del_p.KD350fs|ACSF2_ENST00000504392.1_Frame_Shift_Del_p.KD467fs Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 510 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GGGCCGCTCTAAGGATATGATCATC 0.551 36 153 --- --- --- --- BCL3 602 broad.mit.edu 37 19 45262812 45262813 + Frame_Shift_Ins INS - - G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:45262812_45262813insG ENST00000164227.5 + 9 1549_1550 c.1305_1306insG c.(1303-1308)gcgggtfs p.AG435fs NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 435 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) TGCCCTTTGCTGGGGTCCTCCG 0.688 T IGH@ CLL 68 270 --- --- --- --- SIGLEC14 100049587 broad.mit.edu 37 19 52149128 52149129 + Frame_Shift_Ins INS - - G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chr19:52149128_52149129insG ENST00000360844.6 - 3 647_648 c.606_607insC c.(604-609)ccggccfs p.A203fs SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 203 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TCCTCGGGCCTGGGGGTGAGGG 0.634 10 49 --- --- --- --- DDX3X 1654 broad.mit.edu 37 X 41196718 41196719 + Splice_Site INS - - G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:41196718_41196719insG ENST00000399959.2 + 2 958 c.103_splice c.e2+1 p.K35_splice DDX3X_ENST00000542215.1_Splice_Site_p.K79_splice|DDX3X_ENST00000441189.2_Splice_Site_p.K35_splice|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Splice_Site_p.V35_splice NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 35 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 TACAGCCAGCAGTAAGTACAAC 0.371 HNSCC(61;0.18) 35 49 --- --- --- --- FAM120C 54954 broad.mit.edu 37 X 54209302 54209303 + In_Frame_Ins INS - - GGCGGC TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:54209302_54209303insGGCGGC ENST00000375180.2 - 1 385_386 c.329_330insGCCGCC c.(328-330)ccc>cGCCGCCcc p.109_110insRR FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 109 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCAGCTGAGGGGGCGGCGGCGG 0.748 4 3 --- --- --- --- VSIG4 11326 broad.mit.edu 37 X 65242121 65242121 + Frame_Shift_Del DEL C C - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:65242121delC ENST00000374737.4 - 8 1292 c.1184delG c.(1183-1185)gcfs p.G395fs VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Frame_Shift_Del_p.G301fs NM_001257403.1|NM_007268.2 NP_001244332.1|NP_009199.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 395 complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GACACTTTTGCCCTCAGTGGC 0.512 36 31 --- --- --- --- HEPH 9843 broad.mit.edu 37 X 65479995 65479995 + Frame_Shift_Del DEL G G - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:65479995delG ENST00000519389.1 + 19 3431 c.3252delG c.(3250-3252)gafs p.E1084fs HEPH_ENST00000343002.2_Frame_Shift_Del_p.E1030fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.E1033fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.E763fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.E841fs|HEPH_ENST00000441993.2_Frame_Shift_Del_p.E1033fs Q9BQS7 HEPH_HUMAN hephaestin 1030 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GGACTTTTGAGGTTGTGGAGA 0.517 38 43 --- --- --- --- XIST 7503 broad.mit.edu 37 X 73067240 73067240 + RNA DEL T T - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5d71c48-1a2d-4d7d-8f2c-e3a68352776b 6dbae798-f66d-4d95-9262-7408cf83ab15 g.chrX:73067240delT ENST00000429829.1 - 0 5348 NR_001564.2 ATTGTCTTACttttttttttt 0.478 3 4 --- --- --- ---