Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PROKR2 128674 broad.mit.edu 37 20 5294996 5294996 + Missense_Mutation SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:5294996T>C uc010zqw.2 - 0 28 c.20A>G c.(19-21)aAc>aGc p.N7S PROKR2_uc010zqx.2_Missense_Mutation_p.N7S|PROKR2_uc010zqy.2_Missense_Mutation_p.N7S|AX746654_uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 7 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GAAACTGGTGTTTCCATTCTG 0.512000 HNSCC(71;0.22) 92 9 0 0 0.000978159 0 0 PI4KA 5297 broad.mit.edu 37 22 21096604 21096604 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:21096604G>A uc002zsz.4 - 31 3740 c.3479C>T c.(3478-3480)cCc>cTc p.P1160L NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 1160 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding p.P1160P(1) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CATCCGGAGGGGACCCCAGCA 0.587000 OREG0026324 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 155 10 0 0 0.000978159 0 0 CTCFL 140690 broad.mit.edu 37 20 56093858 56093858 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:56093858C>T uc010giw.1 - 4 1126 c.1015G>A c.(1015-1017)Gag>Aag p.E339K CTCFL_uc010gix.1_Missense_Mutation_p.E339K|CTCFL_uc002xym.2_Missense_Mutation_p.E339K|CTCFL_uc010gjb.1_Missense_Mutation_p.E339K|CTCFL_uc010gja.1_Missense_Mutation_p.E339K|CTCFL_uc010gjc.1_Missense_Mutation_p.E339K|CTCFL_uc010gjd.1_Missense_Mutation_p.E339K|CTCFL_uc010gje.3_Missense_Mutation_p.E339K|CTCFL_uc010gjg.3_Missense_Mutation_p.E71K|CTCFL_uc010gjf.3_Missense_Mutation_p.E134K|CTCFL_uc010gjh.2_Missense_Mutation_p.E339K|CTCFL_uc010gji.2_Missense_Mutation_p.E134K|CTCFL_uc010gjj.2_Missense_Mutation_p.E339K|CTCFL_uc021wfe.1_Missense_Mutation_p.E339K|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.E71K|CTCFL_uc010gjk.1_Missense_Mutation_p.E339K|CTCFL_uc010gjl.1_Missense_Mutation_p.E339K NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. 339 DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) AAGGGTTTCTCATGAGTATGT 0.458000 131 16 0 0 0.000566183 0 0 OR2T2 401992 broad.mit.edu 37 1 248616729 248616729 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248616729C>T uc001iek.1 + 0 631 c.631C>T c.(631-633)Cct>Tct p.P211S NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) GCTGCTTATCCCTCTATCTGT 0.532000 84 8 0 0 0.000442599 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64629877 64629877 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:64629877C>T uc003jtp.3 - 7 1923 c.1109G>A c.(1108-1110)gGa>gAa p.G370E ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 370 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) ACCCAGTGTTCCACAGGGCTT 0.259000 20 7 0 0 0.00198382 0 0 NOD2 64127 broad.mit.edu 37 16 50733428 50733428 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:50733428C>T uc002egm.1 + 1 208 c.103C>T c.(103-105)Cag>Tag p.Q35* NOD2_uc010cbj.1_Nonsense_Mutation_p.Q8*|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Nonsense_Mutation_p.Q8*|NOD2_uc002egl.1_5'UTR NM_022162 NP_071445 Q9HC29 NOD2_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA. 35 CARD 1. JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GGAGGCTTTTCAGGCACAGAG 0.612000 228 19 0 0 0.00278032 0 0 TMC5 79838 broad.mit.edu 37 16 19455440 19455440 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:19455440C>T uc002dgc.4 + 3 1575 c.826C>T c.(826-828)Cgt>Tgt p.R276C TMC5_uc010vaq.2_Missense_Mutation_p.R276C|TMC5_uc002dgb.4_Missense_Mutation_p.R276C|TMC5_uc010var.2_Missense_Mutation_p.R276C NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 276 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCCCTCATTTCGTCACAGGAG 0.463000 80 7 0 0 0.00198382 0 0 HHLA2 11148 broad.mit.edu 37 3 108076794 108076794 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:108076794G>A uc003dwz.3 + 5 1203 c.789G>A c.(787-789)atG>atA p.M263I HHLA2_uc011bhl.2_Missense_Mutation_p.M199I|HHLA2_uc010hpu.3_Missense_Mutation_p.M263I|HHLA2_uc003dwy.4_Missense_Mutation_p.M263I NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 263 Ig-like V-type 2. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 GGTCCAGAATGAAAAGTGGGA 0.383000 153 44 0 0 0.00321405 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52002461 52002461 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:52002461C>T uc002pwx.1 - 3 1154 c.1098G>A c.(1096-1098)caG>caA p.Q366Q SIGLEC12_uc002pww.1_Silent_p.Q248Q|SIGLEC12_uc010eoy.1_Silent_p.Q93Q NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA. 366 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGGTCAAGTTCTGAGGAGGAT 0.567000 71 5 0 0 0.000602214 0 0 OR51A7 119687 broad.mit.edu 37 11 4929511 4929511 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:4929511G>A uc010qyq.2 + 0 912 c.912G>A c.(910-912)ggG>ggA p.G304G NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA. 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGATCTTGGGGAAGTTGCTTA 0.393000 64 6 0 0 0.00307968 0 0 CASR 846 broad.mit.edu 37 3 121980881 121980881 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:121980881C>T uc003eew.4 + 3 1437 c.999C>T c.(997-999)ttC>ttT p.F333F CASR_uc003eev.4_Silent_p.F333F NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 333 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCCGGGAATTCCTGAAGAAGG 0.537000 57 5 0 0 0.000602214 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67221661 67221661 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:67221661C>T uc002erx.1 - 4 748 c.507G>A c.(505-507)ctG>ctA p.L169L EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Intron|EXOC3L1_uc010vje.1_Silent_p.L108L|EXOC3L1_uc002ery.1_Silent_p.L113L NM_178516 NP_848611 Q86VI1 EX3L1_HUMAN Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA. 169 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GCAGCTGCTCCAGCTCCCGAA 0.597000 100 14 0 0 0.00244969 0 0 PHLDB2 90102 broad.mit.edu 37 3 111685508 111685508 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:111685508G>A uc010hqa.3 + 13 3537 c.3126G>A c.(3124-3126)ttG>ttA p.L1042L PHLDB2_uc003dyc.3_Silent_p.L1026L|PHLDB2_uc003dyd.3_Silent_p.L999L|PHLDB2_uc003dyg.3_Silent_p.L1042L|PHLDB2_uc003dyh.3_Silent_p.L999L|PHLDB2_uc003dyi.3_Silent_p.L533L|PHLDB2_uc003dyj.3_Silent_p.L97L NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 1042 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AGAGACTTTTGAAGCAGGCTC 0.463000 59 11 0 0 0.00136819 0 0 MYH8 4626 broad.mit.edu 37 17 10307677 10307677 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10307677C>T uc002gmm.2 - 21 2753 c.2658G>A c.(2656-2658)gaG>gaA p.E886E AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 886 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GGTCATTTTTCTCTTTTAAGA 0.398000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 47 8 0 0 0.00307968 0 0 FLII 2314 broad.mit.edu 37 17 18155806 18155806 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:18155806G>A uc002gsr.1 - 9 1129 c.1078C>T c.(1078-1080)Cat>Tat p.H360Y FLII_uc002gsq.1_Missense_Mutation_p.H232Y|FLII_uc010vxn.1_Missense_Mutation_p.H329Y|FLII_uc010vxo.1_Missense_Mutation_p.H306Y|FLII_uc002gss.1_Missense_Mutation_p.H360Y NM_002018 NP_002009 Q13045 FLII_HUMAN Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA. 360 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GTCAGGAAATGGATGGCTTCT 0.597000 101 9 0 0 0.000442599 0 0 PREX2 80243 broad.mit.edu 37 8 68999972 68999972 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:68999972C>T uc003xxv.1 + 18 2068 c.2041C>T c.(2041-2043)Cca>Tca p.P681S PREX2_uc003xxu.1_Missense_Mutation_p.P681S|PREX2_uc011lez.1_Missense_Mutation_p.P616S NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 681 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGTGAAAATTCCAGATTCAGC 0.428000 112 17 0 0 0.00121646 0 0 GALNT12 79695 broad.mit.edu 37 9 101597623 101597623 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:101597623G>A uc004ayz.3 + 4 1010 c.1010G>A c.(1009-1011)gGa>gAa p.G337E NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA. 337 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) GTTTGGGGAGGAGAAAACCTC 0.398000 123 13 0 0 0.00316338 0 0 TBX18 9096 broad.mit.edu 37 6 85466495 85466495 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:85466495G>A uc003pkl.1 - 3 692 c.692C>T c.(691-693)tCg>tTg p.S231L TBX18_uc010kbq.2_Missense_Mutation_p.S73L NM_001080508 NP_001073977 O95935 TBX18_HUMAN Homo sapiens T-box 18 (TBX18), mRNA. 231 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) AGTCTCCCCCGAGGCAGGCGA 0.512000 60 7 0 0 0.00198382 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947792 57947792 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:57947792G>A uc021qjm.1 + 0 876 c.876G>A c.(874-876)agG>agA p.R292R OR9Q1_uc001nmj.3_Silent_p.R292R NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA. 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) ACAGCCTGAGGAACAAGGAAG 0.468000 53 8 0 0 0.000442599 0 0 MUC16 94025 broad.mit.edu 37 19 9087495 9087495 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9087495C>T uc002mkp.3 - 0 4524 c.4320G>A c.(4318-4320)ggG>ggA p.G1440G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1440 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 CCAGGGGTTCCCCTGGGACAT 0.522000 74 10 0 0 0.000442599 0 0 FGD2 221472 broad.mit.edu 37 6 36978769 36978769 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:36978769C>T uc010jwp.1 + 2 492 c.321C>T c.(319-321)gtC>gtT p.V107V FGD2_uc011dtu.1_Silent_p.V107V|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 107 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 AGAAGATCGTCCAGGAGCTGC 0.612000 65 5 0 0 0.00116845 0 0 USP42 84132 broad.mit.edu 37 7 6196551 6196551 + Missense_Mutation SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:6196551T>C uc011jwo.1 + 15 3931 c.3808T>C c.(3808-3810)Ttc>Ctc p.F1270L USP42_uc011jwp.2_Missense_Mutation_p.F1270L|USP42_uc011jwq.2_Missense_Mutation_p.F1077L NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA. 1270 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TGTCGCCCAGTTCCGGAGAGC 0.512000 29 6 0 0 0.00198382 0 0 NRG3 10718 broad.mit.edu 37 10 84718705 84718705 + Splice_Site SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:84718705G>A uc021pvc.1 + 6 1185 c.1158_splice c.e6-1 p.K386_splice NRG3_uc010qlz.1_Splice_Site_p.K385_splice|NRG3_uc021pvb.1_Intron|NRG3_uc001kco.2_Splice_Site_p.K386_splice|NRG3_uc001kcp.2_Splice_Site_p.K165_splice|NRG3_uc001kcq.2_Splice_Site_p.K36_splice|NRG3_uc021pvd.1_Splice_Site_p.K165_splice|NRG3_uc021pve.1_Splice_Site_p.K190_splice|NRG3_uc021pvf.1_Splice_Site_p.K36_splice|NRG3_uc021pvg.1_Splice_Site_p.K190_splice|NRG3_uc021pvh.1_Splice_Site|NRG3_uc021pvi.1_Splice_Site_p.K216_splice|NRG3_uc021pvk.1_Splice_Site|NRG3_uc001kcr.2_Splice_Site_p.K36_splice|NRG3_uc021pvl.1_Splice_Site_p.K36_splice NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 386 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) ATGCCTGCAGGAAACAAGCTA 0.388000 36 13 0 0 0.00185496 0 0 MYH4 4622 broad.mit.edu 37 17 10351220 10351220 + Missense_Mutation SNP T A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10351220T>A uc002gmn.3 - 33 4991 c.4880A>T c.(4879-4881)aAt>aTt p.N1627I AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1627 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin 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 TTCCATTTCATTAAGATCTCC 0.463000 155 19 0 0 0.00188189 0 0 TDRD1 56165 broad.mit.edu 37 10 115947891 115947891 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:115947891G>A uc001lbg.1 + 1 454 c.301G>A c.(301-303)Gga>Aga p.G101R TDRD1_uc001lbf.3_Missense_Mutation_p.G92R|TDRD1_uc001lbh.1_Missense_Mutation_p.G92R|TDRD1_uc001lbi.1_Missense_Mutation_p.G92R NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN Homo sapiens tudor domain containing 1 (TDRD1), mRNA. 101 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding p.G101R(2)|p.G101G(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGGCTCCAAAGGAGACAGGAA 0.413000 95 27 0 0 0.000878237 0 0 ZNF521 25925 broad.mit.edu 37 18 22804972 22804972 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:22804972G>A uc002kvk.2 - 3 3157 c.2910C>T c.(2908-2910)tcC>tcT p.S970S ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.S970S|ZNF521_uc002kvl.2_Silent_p.S750S NM_015461 NP_056276 Q96K83 ZN521_HUMAN Homo sapiens zinc finger protein 521 (ZNF521), mRNA. 970 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GAGTTAAAAGGGAGGGAAACC 0.483000 T PAX5 ALL 66 11 0 0 0.000673444 0 0 FAT3 120114 broad.mit.edu 37 11 92523277 92523277 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:92523277G>A uc001pdj.4 + 6 4521 c.4504G>A c.(4504-4506)Gac>Aac p.D1502N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1502 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TAGCAGCATCGACTCCATCAG 0.507000 TCGA Ovarian(4;0.039) 320 48 0 0 0.00361006 0 0 OR4N4 283694 broad.mit.edu 37 15 22382594 22382594 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:22382594G>A uc001yuc.1 + 6 1103 c.122G>A c.(121-123)gGa>gAa p.G41E abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCCTCCCTGGAAATTTTCTC 0.443000 233 19 0 0 0.00121646 0 0 TTN 7273 broad.mit.edu 37 2 179454489 179454489 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179454489C>T uc021vsy.1 - 252 54484 c.54259G>A c.(54259-54261)Gaa>Aaa p.E18087K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E11782K|TTN_uc021vta.1_Missense_Mutation_p.E11715K|TTN_uc021vtb.1_Missense_Mutation_p.E11590K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 19014 Fibronectin type-III 31. 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) GTTTTTGTTTCGATGGTTGGC 0.393000 127 13 0 0 0.00244969 0 0 NPR1 4881 broad.mit.edu 37 1 153657492 153657492 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:153657492G>A uc001fcs.4 + 7 1958 c.1537G>A c.(1537-1539)Gag>Aag p.E513K NPR1_uc010pdz.2_Missense_Mutation_p.E259K|NPR1_uc010pea.2_Missense_Mutation_p.E17K NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 513 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GGTGCGCTGGGAGGACGTTGA 0.637000 80 15 0 0 0.00244969 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64589737 64589737 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:64589737C>T uc003dmg.3 - 24 3640 c.3608G>A c.(3607-3609)cGg>cAg p.R1203Q ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1175Q|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1032Q|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R114Q NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 1203 TSP type-1 7. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GTATCTCATCCGGGTACCTTT 0.512000 396 29 0 0 0.00127121 0 0 OSBPL11 114885 broad.mit.edu 37 3 125279359 125279359 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:125279359G>A uc003eic.3 - 7 1756 c.1019C>T c.(1018-1020)cCt>cTt p.P340L NM_022776 NP_073613 Q9BXB4 OSB11_HUMAN Homo sapiens oxysterol binding protein-like 11 (OSBPL11), mRNA. 340 lipid transport lipid binding NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 27 TATTTCTTCAGGCTCCTTGAT 0.363000 142 8 0 0 0.000274275 0 0 LILRA1 11024 broad.mit.edu 37 19 55107271 55107271 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:55107271C>T uc002qgh.1 + 5 1011 c.829C>T c.(829-831)Ctc>Ttc p.L277F LILRA1_uc010yfg.1_Missense_Mutation_p.L275F|LILRA1_uc010yfh.2_Missense_Mutation_p.L277F NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 277 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCAGGCTGGGCTCTCCCAGGC 0.612000 56 9 0 0 0.000274275 0 0 CLCN3 1182 broad.mit.edu 37 4 170618716 170618716 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:170618716C>T uc003ish.3 + 8 1953 c.1394C>T c.(1393-1395)cCc>cTc p.P465L CLCN3_uc003isi.3_Missense_Mutation_p.P465L|CLCN3_uc011cka.2_Missense_Mutation_p.P438L|CLCN3_uc011cjz.2_Missense_Mutation_p.P448L|CLCN3_uc003isj.2_Missense_Mutation_p.P438L NM_173872 NP_776297 P51790 CLCN3_HUMAN Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA. 465 endosomal lumen acidification Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GACTGTGGTCCCCTGGAATCC 0.423000 80 11 0 0 0.00136819 0 0 CDH9 1007 broad.mit.edu 37 5 26988489 26988489 + Splice_Site SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:26988489C>T uc003jgs.1 - 2 121 c.-48_splice c.e2-1 CDH9_uc010iug.3_Splice_Site NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GTTTGTTTTTCCTAAAGAGTA 0.313000 12 4 0 0 0.00024832 0 0 DNAH3 55567 broad.mit.edu 37 16 21136651 21136652 + Missense_Mutation DNP CC TT TT TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:21136651_21136652CC>TT uc010vbe.2 - 8 1248_1249 c.1248_1249GG>AA c.(1246-1251)aaggag>aaAAag p.E417K DNAH3_uc002die.2_Missense_Mutation_p.E388K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 417 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATCCAGTGCTCCTTCCGTGAGG 0.500000 91 7 0 0 6.4e-05 0 0 AGTR1 185 broad.mit.edu 37 3 148459402 148459402 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:148459402G>A uc003ewg.3 + 3 1026 c.580G>A c.(580-582)Ggg>Agg p.G194R AGTR1_uc003ewh.3_Missense_Mutation_p.G194R|AGTR1_uc003ewi.3_Missense_Mutation_p.G194R|AGTR1_uc003ewj.3_Missense_Mutation_p.G194R|AGTR1_uc003ewk.3_Missense_Mutation_p.G194R|AGTR1_uc021xfj.1_Missense_Mutation_p.G194R NM_031850 NP_114438 P30556 AGTR1_HUMAN Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA. 194 Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) CCTCCCGATAGGGCTGGGCCT 0.383000 44 15 0 0 0.00400662 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401359 11401359 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:11401359C>T uc003gmq.3 - 1 594 c.271G>A c.(271-273)Gac>Aac p.D91N HS3ST1_uc021xmg.1_Missense_Mutation_p.D91N NM_005114 NP_005105 O14792 HS3S1_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA. 91 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 TCCTCCCAGTCGAAGAAGTGG 0.642000 99 11 0 0 0.00136819 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2399192 2399192 + Splice_Site SNP G C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:2399192G>C uc010xgx.2 + 3 412 c.412_splice c.e3+1 p.G138_splice TMPRSS9_uc002lvv.1_Splice_Site_p.G172_splice NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA. 138 proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) GAGCTCACAGGTGAGTGGGCA 0.582000 37 3 0 0 6.4e-05 0 0 ACOT12 134526 broad.mit.edu 37 5 80631636 80631636 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:80631636G>A uc003khl.4 - 11 1268 c.1213C>T c.(1213-1215)Cgt>Tgt p.R405C RNU5E-1_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA. 405 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity p.R405H(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) GACAAGAGACGATAAGCCAAA 0.348000 81 12 0 0 0.00316338 0 0 POTEF 728378 broad.mit.edu 37 2 130831874 130831874 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:130831874G>A uc010fmh.2 - 16 3571 c.3171C>T c.(3169-3171)atC>atT p.I1057I NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 1057 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CCTGCTTGCTGATCCACATCT 0.532000 94 11 0 0 0.00244969 0 0 SPACA3 124912 broad.mit.edu 37 17 31323938 31323938 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:31323938G>A uc002hhs.1 + 2 496 c.421G>A c.(421-423)Ggg>Agg p.G141R SPACA3_uc010cte.1_Non-coding_Transcript NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA. 141 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) CACCAACAACGGGATCTTCCA 0.592000 86 6 0 0 0.00198382 0 0 CLK2 1196 broad.mit.edu 37 1 155234037 155234037 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:155234037G>A uc001fjy.3 - 10 1491 c.1201C>T c.(1201-1203)Cct>Tct p.P401S SCAMP3_uc001fjs.3_5'Flank|SCAMP3_uc001fjt.3_5'Flank|CLK2_uc001fjw.3_Missense_Mutation_p.P400S|CLK2_uc001fjx.3_Missense_Mutation_p.P173S|CLK2_uc009wqm.3_Missense_Mutation_p.P401S NM_003993 NP_003984 P49760 CLK2_HUMAN Homo sapiens CDC-like kinase 2 (CLK2), mRNA. 401 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ATCCGGGAAGGGATAGGACCC 0.458000 Other conserved DNA damage response genes 110 10 0 0 0.00185496 0 0 TLE4 7091 broad.mit.edu 37 9 82267551 82267551 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:82267551C>T uc004ald.3 + 6 1262 c.413C>T c.(412-414)cCc>cTc p.P138L TLE4_uc004alc.3_Missense_Mutation_p.P145L|TLE4_uc010mpr.3_Missense_Mutation_p.P24L|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.P113L|TLE4_uc010mps.3_Missense_Mutation_p.P138L|TLE4_uc004alf.3_Missense_Mutation_p.P84L NM_007005 NP_008936 O60756 BCE1_HUMAN Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA. 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CATGGTCTCCCCGTACCTCTG 0.557000 184 23 0 0 0.00332997 0 0 ABCA3 21 broad.mit.edu 37 16 2373673 2373673 + Missense_Mutation SNP C A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:2373673C>A uc002cpy.1 - 6 1176 c.464G>T c.(463-465)cGg>cTg p.R155L ABCA3_uc010bsk.1_Missense_Mutation_p.R155L|ABCA3_uc010bsl.1_Missense_Mutation_p.R155L|ABCA3_uc002cpz.1_Missense_Mutation_p.R155L NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 155 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R155L(2) 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) GTAACTGAACCGTAGGTGATA 0.498000 435 13 0.00316338 0.00918461 0.00316338 1 0 ANKRD22 118932 broad.mit.edu 37 10 90582746 90582746 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:90582746C>T uc001kfj.4 - 5 896 c.528G>A c.(526-528)cgG>cgA p.R176R NM_144590 NP_653191 Q5VYY1 ANR22_HUMAN Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA. 176 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) ATTTTAATCTCCGTGCAATAT 0.403000 115 25 0 0 0.000720815 0 0 YTHDF1 54915 broad.mit.edu 37 20 61835042 61835042 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:61835042G>A uc002yeh.3 - 3 544 c.250C>T c.(250-252)Cca>Tca p.P84S YTHDF1_uc011aaq.2_Missense_Mutation_p.P34S NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA. 84 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 GTGAGGTATGGAATCGGAGGG 0.542000 80 9 0 0 0.000673444 0 0 PITPNM2 57605 broad.mit.edu 37 12 123482012 123482012 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:123482012G>A uc001uej.1 - 9 1531 c.1332C>T c.(1330-1332)tcC>tcT p.S444S PITPNM2_uc001uek.1_Silent_p.S444S NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA. 444 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CGCCCTTCTTGGAGCTGGGGT 0.667000 113 13 0 0 0.00185496 0 0 MORC1 27136 broad.mit.edu 37 3 108778661 108778661 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:108778661C>T uc003dxl.3 - 11 1110 c.1023G>A c.(1021-1023)gaG>gaA p.E341E MORC1_uc011bhn.2_Silent_p.E341E NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 341 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 ACCTTTGTTTCTCTTTAAGAT 0.373000 36 9 0 0 0.000673444 0 0 ITK 3702 broad.mit.edu 37 5 156679629 156679629 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:156679629C>T uc003lwo.1 + 16 1886 c.1804C>T c.(1804-1806)Cgg>Tgg p.R602W NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 602 Protein kinase. T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCAGAAGATCGGCCAGCCTT 0.463000 T SYK peripheral T-cell lymphoma 353 35 0 0 0.00111076 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935354 151935354 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:151935354G>A uc022chl.1 - 0 813 c.813C>T c.(811-813)ttC>ttT p.F271F MAGEA3_uc004fgp.3_Silent_p.F271F NM_005362 NP_005353 P43357 MAGA3_HUMAN Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA. 271 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) GACCCCACAGGAATTCATAAC 0.537000 72 28 0 0 0.001512 0 0 TTN 7273 broad.mit.edu 37 2 179596517 179596517 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179596517C>T uc021vsy.1 - 54 13578 c.13353G>A c.(13351-13353)caG>caA p.Q4451Q TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.Q1112Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5378 Ig-like 24. 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) ACTTGAGGATCTGCAGGCTAA 0.483000 101 7 0 0 0.00198382 0 0 OR2S2 56656 broad.mit.edu 37 9 35957487 35957487 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:35957487C>T uc011lpi.2 - 0 665 c.609G>A c.(607-609)acG>acA p.T203T NM_019897 NP_063950 Q9NQN1 OR2S1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA. 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T193T(1) central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) AGATCACATTCGTCACCTCCA 0.483000 99 15 0 0 0.00400662 0 0 SELENBP1 8991 broad.mit.edu 37 1 151340775 151340775 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:151340775G>A uc010pcy.2 - 4 637 c.507C>T c.(505-507)atC>atT p.I169I SELENBP1_uc001exx.3_Silent_p.I127I|SELENBP1_uc010pcz.2_Silent_p.I65I|SELENBP1_uc001eya.3_Silent_p.I63I NM_003944 NP_003935 Q13228 SBP1_HUMAN Homo sapiens selenium binding protein 1 (SELENBP1), mRNA. 127 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|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) ACTTGGCATGGATGTCCTTGG 0.562000 89 10 0 0 0.000442599 0 0 BMPER 168667 broad.mit.edu 37 7 34091556 34091556 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:34091556G>A uc011kap.2 + 8 1134 c.760G>A c.(760-762)Gat>Aat p.D254N NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 254 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 ATTTCTGTACGATAACTGCAC 0.473000 101 11 0 0 0.00136819 0 0 FREM1 158326 broad.mit.edu 37 9 14824883 14824883 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:14824883C>T uc003zlm.3 - 11 2805 c.1989G>A c.(1987-1989)aaG>aaA p.K663K FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 663 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GTAGCTGTTTCTTAGTTATAT 0.418000 37 10 0 0 0.000442599 0 0 CLCN1 1180 broad.mit.edu 37 7 143048844 143048844 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:143048844G>A uc003wcr.1 + 22 2840 c.2753G>A c.(2752-2754)gGa>gAa p.G918E CLCN1_uc011ktc.1_Missense_Mutation_p.G530E NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 918 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GGGGCCACTGGAACAGGGGAT 0.622000 50 8 0 0 0.00307968 0 0 MYH13 8735 broad.mit.edu 37 17 10209805 10209806 + Nonsense_Mutation DNP TC AT AT TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10209805_10209806TC>AT uc002gmk.1 - 36 5526_5527 c.5436_5437GA>AT c.(5434-5439)gggaag>ggATag p.K1813* NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1813 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ATCTGCTTCTTCCCGCCCTTCA 0.550000 231 16 0 0 6.4e-05 0 0 TP53BP1 7158 broad.mit.edu 37 15 43714221 43714221 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:43714221G>A uc001zrs.3 - 18 4065 c.3917C>T c.(3916-3918)tCc>tTc p.S1306F TP53BP1_uc010udp.2_Missense_Mutation_p.S1306F|TP53BP1_uc001zrq.4_Missense_Mutation_p.S1311F|TP53BP1_uc001zrr.4_Missense_Mutation_p.S1311F|TP53BP1_uc010udq.1_Missense_Mutation_p.S1311F NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 1306 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding 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) TGCCTTGGAGGAGAAGGAGCT 0.547000 Other conserved DNA damage response genes 92 9 0 0 0.000442599 0 0 SVEP1 79987 broad.mit.edu 37 9 113170069 113170069 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:113170069G>A uc010mtz.3 - 37 8148 c.7811C>T c.(7810-7812)tCc>tTc p.S2604F SVEP1_uc010mty.3_Missense_Mutation_p.S530F NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2604 Sushi 20. 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 TGTTGGGATGGAACTTGACCA 0.458000 164 26 0 0 0.000720815 0 0 ULK1 8408 broad.mit.edu 37 12 132399957 132399958 + Missense_Mutation DNP CC TT TT TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:132399957_132399958CC>TT uc001uje.3 + 17 1868_1869 c.1600_1601CC>TT c.(1600-1602)cct>TTt p.P534F NM_003565 NP_003556 O75385 ULK1_HUMAN Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA. 534 autophagy|protein localization|regulation of autophagy ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TGGCAGGTCCCCTCGTCCAGGT 0.639000 43 8 0 0 6.4e-05 0 0 MMP3 4314 broad.mit.edu 37 11 102710968 102710968 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:102710968G>A uc001phj.1 - 5 871 c.806C>T c.(805-807)tCc>tTc p.S269F NM_002422 NP_002413 P08254 MMP3_HUMAN Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA. 269 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.S269F(2) endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) GGTCTCAGGGGAGTCAGGGGG 0.517000 51 7 0 0 0.00307968 0 0 CIDEA 1149 broad.mit.edu 37 18 12264320 12264320 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:12264320C>T uc002kqt.4 + 2 263 c.198C>T c.(196-198)ctC>ctT p.L66L CIDEA_uc002kqu.4_Silent_p.L100L|CIDEA_uc010dlc.3_Non-coding_Transcript NM_001279 NP_001270 O60543 CIDEA_HUMAN Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA. 66 CIDE-N. DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 TGGATGCCCTCGTCATCGCTA 0.488000 51 12 0 0 0.00244969 0 0 CYP4F12 66002 broad.mit.edu 37 19 15806809 15806809 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:15806809C>T uc002nbl.3 + 9 1298 c.1179C>T c.(1177-1179)ccC>ccT p.P393P NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GGTTACATCCCCCAGCTCCCT 0.602000 68 18 0 0 0.00074312 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140187363 140187363 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140187363G>A uc003lhi.2 + 0 692 c.591G>A c.(589-591)cgG>cgA p.R197R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.R197R|PCDHAC2_uc011daa.2_Silent_p.R197R NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 212 Cadherin 2. 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) TTATATTACGGAAATCTTTAG 0.458000 90 9 0 0 0.000442599 0 0 NPIPL2 440348 broad.mit.edu 37 16 74425677 74425677 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:74425677C>T uc010vmt.1 + 5 849 c.848C>T c.(847-849)cCc>cTc p.P283L C9J9U8 C9J9U8_HUMAN RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor; 344 endometrium(5)|kidney(3)|lung(1)|prostate(8) 17 AAGACTCCTCCcttagctact 0.547000 80 9 0 0 0.000673444 0 0 ELAVL2 1993 broad.mit.edu 37 9 23762043 23762043 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:23762043C>T uc003zpu.3 - 1 465 c.190G>A c.(190-192)Gaa>Aaa p.E64K ELAVL2_uc003zps.3_Missense_Mutation_p.E64K|ELAVL2_uc003zpt.3_Missense_Mutation_p.E64K|ELAVL2_uc003zpv.3_Missense_Mutation_p.E64K|ELAVL2_uc003zpw.3_Missense_Mutation_p.E64K NM_004432 NP_004423 Q12926 ELAV2_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA. 64 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) GACTCTATTTCACCAATGCTC 0.388000 32 7 0 0 0.000274275 0 0 CACNA1E 777 broad.mit.edu 37 1 181727953 181727953 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:181727953C>T uc009wxt.3 + 31 4749 c.4554C>T c.(4552-4554)acC>acT p.T1518T CACNA1E_uc001gow.3_Silent_p.T1518T|CACNA1E_uc009wxs.3_Silent_p.T1499T|CACNA1E_uc001gox.1_Silent_p.T744T NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1518 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCGCCTTCACCATGGTGTTTT 0.468000 134 14 0 0 0.00074312 0 0 C11orf63 79864 broad.mit.edu 37 11 122774767 122774767 + Missense_Mutation SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:122774767T>C uc001pym.3 + 2 776 c.479T>C c.(478-480)tTg>tCg p.L160S C11orf63_uc001pyl.1_Missense_Mutation_p.L160S NM_024806 NP_079082 Q6NUN7 CK063_HUMAN Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA. 160 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) AATCTGCCTTTGGCTCCCCTC 0.542000 93 13 0 0 0.00185496 0 0 FPR2 2358 broad.mit.edu 37 19 52272426 52272426 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:52272426G>A uc002pxr.3 + 1 560 c.515G>A c.(514-516)gGg>gAg p.G172E FPR2_uc002pxs.4_Missense_Mutation_p.G172E|FPR2_uc010epf.3_Missense_Mutation_p.G172E|FPR2_uc021uyp.1_Missense_Mutation_p.G172E NM_001005738 NP_001453 P25090 FPR2_HUMAN Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA. 172 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity p.G172W(1) endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 ATTCCAAATGGGGACACATAC 0.502000 95 10 0 0 0.000673444 0 0 GUCA2A 2980 broad.mit.edu 37 1 42628607 42628607 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:42628607G>A uc001chd.1 - 2 330 c.318C>T c.(316-318)atC>atT p.I106I NM_033553 NP_291031 Q02747 GUC2A_HUMAN Homo sapiens guanylate cyclase activator 2A (guanylin) (GUCA2A), mRNA. 106 signal transduction extracellular region guanylate cyclase activator activity|hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1) 5 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CGTAGGCACAGATTTCACATG 0.627000 49 13 0 0 0.00316338 0 0 AGTR2 186 broad.mit.edu 37 X 115304508 115304508 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:115304508C>T uc022cdd.1 + 0 975 c.975C>T c.(973-975)ttC>ttT p.F325F AGTR2_uc004eqh.4_Silent_p.F325F NM_000686 NP_000677 P50052 AGTR2_HUMAN Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA. 325 G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 GAAACCGGTTCCAACAGAAGC 0.453000 34 13 0 0 0.00136819 0 0 SCN11A 11280 broad.mit.edu 37 3 38950508 38950508 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:38950508G>A uc021wvy.1 - 8 1478 c.1279C>T c.(1279-1281)Ctg>Ttg p.L427L NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 427 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) TCCTTTAACAGCTGCTGGGCT 0.522000 118 9 0 0 0.000978159 0 0 SCN11A 11280 broad.mit.edu 37 3 38945362 38945362 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:38945362C>T uc021wvy.1 - 11 2035 c.1836G>A c.(1834-1836)ggG>ggA p.G612G NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 612 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) TTACCAAATTCCCTATATTCA 0.343000 41 8 0 0 0.000274275 0 0 XPO5 57510 broad.mit.edu 37 6 43523660 43523660 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:43523660G>A uc003ovp.3 - 12 1565 c.1354C>T c.(1354-1356)Cgt>Tgt p.R452C NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN Homo sapiens exportin 5 (XPO5), mRNA. 452 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GGATCCAAACGACATGCCAAC 0.433000 103 14 0 0 0.00316338 0 0 APBB1IP 54518 broad.mit.edu 37 10 26792132 26792132 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:26792132G>A uc001iss.3 + 5 781 c.460G>A c.(460-462)Gaa>Aaa p.E154K APBB1IP_uc009xks.1_Missense_Mutation_p.E154K NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA. 154 Poly-Glu. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 CCAGGAAGAGGAAGAAGCCCA 0.433000 112 10 0 0 0.000442599 0 0 MYO5A 4644 broad.mit.edu 37 15 52605957 52605957 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:52605957G>A uc002aby.2 - 40 5748 c.5504C>T c.(5503-5505)tCc>tTc p.S1835F MYO5A_uc002abx.3_Missense_Mutation_p.S1808F|MYO5A_uc010ugd.1_Missense_Mutation_p.S557F NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA. 1835 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TAGTGCGAGGGAAGATGGGTT 0.473000 97 6 0 0 0.00198382 0 0 C20orf152 140894 broad.mit.edu 37 20 34583006 34583006 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:34583006C>T uc002xer.1 + 7 1058 c.902C>T c.(901-903)tCc>tTc p.S301F C20orf152_uc002xes.1_Missense_Mutation_p.S301F|C20orf152_uc010gfp.1_Non-coding_Transcript NM_080834 NP_543024 Q96M20 CT152_HUMAN Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA. 301 breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1) 18 Breast(12;0.00631) GCCTCCCCTTCCTACCGTAGA 0.582000 OREG0025897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 91 8 0 0 0.000274275 0 0 PSG4 5672 broad.mit.edu 37 19 43699294 43699294 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43699294G>A uc002ovy.3 - 3 943 c.841C>T c.(841-843)Cct>Tct p.P281S PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.P188S NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 281 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GGACTGACAGGGAGGCTCTGA 0.443000 310 42 0 0 0.00361006 0 0 ANO3 63982 broad.mit.edu 37 11 26569046 26569046 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:26569046G>A uc001mqt.4 + 11 1383 c.1238G>A c.(1237-1239)gGt>gAt p.G413D ANO3_uc010rdr.2_Missense_Mutation_p.G397D|ANO3_uc010rds.2_Missense_Mutation_p.G252D|ANO3_uc010rdt.2_Missense_Mutation_p.G267D NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN Homo sapiens anoctamin 3 (ANO3), mRNA. 413 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GCAATTGTTGGTTTGTGCGTT 0.363000 65 8 0 0 0.00307968 0 0 ODZ3 55714 broad.mit.edu 37 4 183603033 183603033 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:183603033C>T uc003ivd.1 + 9 1976 c.1901C>T c.(1900-1902)cCa>cTa p.P634L ODZ3_uc003ive.1_Missense_Mutation_p.P40L NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 634 EGF-like 4. signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CACTGCAGTCCAGGATGGGGA 0.473000 31 4 0 0 0.00024832 0 0 ATP11A 23250 broad.mit.edu 37 13 113513726 113513726 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:113513726C>T uc001vsj.4 + 22 2775 c.2687C>T c.(2686-2688)cCt>cTt p.P896L ATP11A_uc001vsi.4_Missense_Mutation_p.P896L|ATP11A_uc001vsm.1_Missense_Mutation_p.P772L|ATP11A_uc010ago.3_Non-coding_Transcript NM_032189 NP_115565 P98196 AT11A_HUMAN Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA. 896 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TTCATCTTCCCTCAGTTTTTA 0.547000 98 13 0 0 0.00316338 0 0 MAP9 79884 broad.mit.edu 37 4 156294382 156294382 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:156294382G>A uc003ios.3 - 3 651 c.387C>T c.(385-387)ttC>ttT p.F129F MAP9_uc011cin.2_Silent_p.F129F|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Silent_p.F129F|MAP9_uc010iqb.2_Silent_p.F57F NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN Homo sapiens microtubule-associated protein 9 (MAP9), mRNA. 129 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) GAGATTCAGAGAAAGATTTTA 0.338000 89 8 0 0 0.00307968 0 0 ENTPD3 956 broad.mit.edu 37 3 40456291 40456291 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:40456291G>A uc003ckd.4 + 5 649 c.557G>A c.(556-558)gGa>gAa p.G186E ENTPD3_uc010hhy.3_Missense_Mutation_p.G186E|ENTPD3-AS1_uc003cke.4_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA. 186 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GGGGTATATGGATGGATTACA 0.418000 186 18 0 0 0.00152264 0 0 PCSK5 5125 broad.mit.edu 37 9 78784740 78784740 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:78784740G>A uc004akc.2 + 12 2278 c.1740G>A c.(1738-1740)agG>agA p.R580R PCSK5_uc004ajy.2_Silent_p.R580R|PCSK5_uc004ajz.3_Silent_p.R580R|PCSK5_uc004aka.3_Non-coding_Transcript NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 580 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CTCAGCTAAGGAACTTTAAGA 0.423000 90 6 0 0 0.00198382 0 0 OR2G2 81470 broad.mit.edu 37 1 247751905 247751905 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:247751905C>T uc010pyy.2 + 0 244 c.244C>T c.(244-246)Ccc>Tcc p.P82S NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CAGTGTTATTCCCCAGCTCCT 0.498000 96 46 0 0 0.00321405 0 0 ELMOD2 255520 broad.mit.edu 37 4 141456968 141456968 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:141456968C>T uc003iik.3 + 3 385 c.253C>T c.(253-255)Cct>Tct p.P85S NM_153702 NP_714913 Q8IZ81 ELMD2_HUMAN Homo sapiens ELMO/CED-12 domain containing 2 (ELMOD2), mRNA. 85 phagocytosis|regulation of defense response to virus|response to virus cytoskeleton GTPase activator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 all_hematologic(180;0.162) GAATATTAACCCTGAGAAGGA 0.333000 35 4 0 0 0.00024832 0 0 SRRM2 23524 broad.mit.edu 37 16 2816169 2816169 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:2816169C>T uc002crk.3 + 10 6189 c.5640C>T c.(5638-5640)acC>acT p.T1880T SRRM2_uc002crj.1_Silent_p.T1784T|SRRM2_uc002crl.1_Silent_p.T1880T|SRRM2_uc010bsu.1_Silent_p.T1784T NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 1880 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus 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 GGTCCAGAACCCCCCTGATAA 0.597000 74 6 0 0 0.00116845 0 0 A2M 2 broad.mit.edu 37 12 9254095 9254095 + Missense_Mutation SNP A T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:9254095A>T uc001qvk.1 - 11 1555 c.1442T>A c.(1441-1443)aTt>aAt p.I481N A2M_uc009zgk.1_Missense_Mutation_p.I331N NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 481 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 GTPase activator activity|enzyme binding|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) TCCATTCAGAATATAATGTGC 0.493000 33 4 0 0 0.000602214 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748188 19748188 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:19748188G>A uc009zzj.3 - 4 1273 c.1168C>T c.(1168-1170)Cgc>Tgc p.R390C NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 390 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TGGTCCAGGCGAGCCCAGGCC 0.647000 83 14 0 0 0.00316338 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280695 105280695 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:105280695G>A uc010npd.3 - 0 590 c.355C>T c.(355-357)Ctg>Ttg p.L119L SERPINA7_uc004eme.2_Silent_p.L119L|SERPINA7_uc010npe.2_Silent_p.L119L NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 119 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GGAAAATTCAGTGAACAGATC 0.463000 33 12 0 0 0.000978159 0 0 PRR14L 253143 broad.mit.edu 37 22 32072956 32072956 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:32072956G>A uc003alo.2 - 5 5681 c.5625C>T c.(5623-5625)ttC>ttT p.F1875F NM_173566 NP_775837 Q5THK1 PR14L_HUMAN Homo sapiens proline rich 14-like (PRR14L), mRNA. 2076 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 CGAATACCAGGAAGTGCCCGG 0.592000 38 5 0 0 0.00116845 0 0 SLC2A8 29988 broad.mit.edu 37 9 130167832 130167832 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:130167832C>T uc004bqu.3 + 8 1329 c.1284C>T c.(1282-1284)ttC>ttT p.F428F SLC2A8_uc010mxj.3_Intron NM_014580 NP_055395 Q9NY64 GTR8_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA. 428 cytoplasmic vesicle membrane|integral to plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 11 CCAAGGAGTTCAGCAGCCTCA 0.567000 48 6 0 0 0.00307968 0 0 CACNA1F 778 broad.mit.edu 37 X 49062997 49062997 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:49062997C>T uc004dnb.3 - 45 5542 c.5480G>A c.(5479-5481)cGa>cAa p.R1827Q CACNA1F_uc010nip.3_Missense_Mutation_p.R1816Q NM_005183 NP_005174 O60840 CAC1F_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA. 1827 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CCCTGAATTTCGCCCACGATG 0.602000 30 18 0 0 0.00152264 0 0 STAB1 23166 broad.mit.edu 37 3 52545756 52545756 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:52545756G>A uc003dej.3 + 25 2952 c.2878G>A c.(2878-2880)Ggc>Agc p.G960S NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 960 EGF-like 9. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CGGCTGCCACGGCCTGGTAAG 0.662000 18 4 0 0 0.00024832 0 0 MECOM 2122 broad.mit.edu 37 3 168810803 168810803 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:168810803C>T uc011bpj.1 - 13 3510 c.3107G>A c.(3106-3108)cGa>cAa p.R1036Q MECOM_uc010hwk.1_Missense_Mutation_p.R862Q|MECOM_uc003ffj.3_Missense_Mutation_p.R913Q|MECOM_uc003ffi.3_Missense_Mutation_p.R848Q|MECOM_uc011bpi.1_Missense_Mutation_p.R840Q|MECOM_uc003ffn.3_Missense_Mutation_p.R848Q|MECOM_uc003ffk.2_Missense_Mutation_p.R839Q|MECOM_uc003ffl.2_Missense_Mutation_p.R999Q|MECOM_uc011bpk.1_Missense_Mutation_p.R848Q NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity p.R848L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AATGAAATTTCGAATTTCTGT 0.443000 56 13 0 0 0.00136819 0 0 DNAH9 1770 broad.mit.edu 37 17 11666863 11666863 + Missense_Mutation SNP G A A rs140313224 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:11666863G>A uc002gne.3 + 35 7170 c.7102G>A c.(7102-7104)Gaa>Aaa p.E2368K DNAH9_uc010coo.3_Missense_Mutation_p.E1662K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2368 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E2368K(2) 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) CTGCCCTAAGGAAATTTATGA 0.493000 80 11 0 0 0.000978159 0 0 CDH6 1004 broad.mit.edu 37 5 31317540 31317540 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:31317540C>T uc003jhe.2 + 9 1931 c.1571C>T c.(1570-1572)tCg>tTg p.S524L CDH6_uc003jhd.2_Missense_Mutation_p.S524L NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 524 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACCAATTTTCGTTTTCCTTG 0.403000 105 12 0 0 0.000978159 0 0 TSHR 7253 broad.mit.edu 37 14 81554364 81554364 + Silent SNP A G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:81554364A>G uc001xvd.1 + 3 540 c.384A>G c.(382-384)ctA>ctG p.L128L TSHR_uc001xvb.1_Silent_p.L128L|TSHR_uc001xvc.3_Silent_p.L128L|TSHR_uc010tvs.2_Silent_p.L128L NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 128 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TCCCCCTCCTAAAGTTCCTGT 0.438000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 35 10 0 0 0.000442599 0 0 KCND2 3751 broad.mit.edu 37 7 120385937 120385937 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:120385937G>A uc003vjj.1 + 4 2536 c.1571G>A c.(1570-1572)gGa>gAa p.G524E NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 524 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding p.Q523L(1) 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) TCACAACAAGGAGTCACCAGC 0.448000 54 7 0 0 0.000274275 0 0 KCND2 3751 broad.mit.edu 37 7 119915622 119915622 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:119915622C>T uc003vjj.1 + 0 1901 c.936C>T c.(934-936)atC>atT p.I312I NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 312 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) GCCTGCGCATCCTGGGGTACA 0.512000 51 9 0 0 0.000274275 0 0 C4orf17 84103 broad.mit.edu 37 4 100460493 100460493 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:100460493C>T uc003huw.3 + 6 1164 c.802C>T c.(802-804)Ctg>Ttg p.L268L C4orf17_uc003hux.3_Non-coding_Transcript NM_032149 NP_115525 Q53FE4 CD017_HUMAN Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA. 268 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) ATCAAAAGTGCTGACCAGAGA 0.463000 35 9 0 0 0.000673444 0 0 DEFB116 245930 broad.mit.edu 37 20 29896384 29896384 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:29896384G>A uc010ztm.2 - 0 5 c.5C>T c.(4-6)tCa>tTa p.S2L NM_001037731 NP_001032820 Q30KQ4 DB116_HUMAN Homo sapiens defensin, beta 116 (DEFB116), mRNA. 2 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CTTCATGACTGACATGTTCCA 0.483000 71 7 0 0 0.00307968 0 0 KCNH6 81033 broad.mit.edu 37 17 61619792 61619792 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:61619792G>A uc002jay.3 + 8 2225 c.2145G>A c.(2143-2145)cgG>cgA p.R715R KCNH6_uc010wpl.2_Silent_p.R592R|KCNH6_uc010wpm.2_Silent_p.R715R|KCNH6_uc002jaz.1_Silent_p.R662R NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 715 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TCAACCTGCGGGACGTGAGTC 0.622000 44 14 0 0 0.00244969 0 0 PKP2 5318 broad.mit.edu 37 12 33031889 33031890 + Missense_Mutation DNP GG AA AA TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:33031889_33031890GG>AA uc001rlj.4 - 1 415_416 c.300_301CC>TT c.(298-303)ggccgt>ggTTgt p.R101C PKP2_uc001rlk.4_Missense_Mutation_p.R101C|PKP2_uc010skj.2_Missense_Mutation_p.R101C NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 101 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ACAGGGGAACGGCCTCCAACAA 0.376000 71 8 0 0 6.4e-05 0 0 SNTG1 54212 broad.mit.edu 37 8 51705281 51705281 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:51705281C>T uc010lxy.1 + 19 1817 c.1446C>T c.(1444-1446)ttC>ttT p.F482F SNTG1_uc003xqs.1_Silent_p.F482F|SNTG1_uc010lxz.1_Silent_p.F445F|SNTG1_uc011ldl.1_Non-coding_Transcript NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA. 482 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TTCATTCCTTCTTTGCTGCCA 0.388000 50 6 0 0 0.00198382 0 0 GPR50 9248 broad.mit.edu 37 X 150349133 150349133 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:150349133G>A uc010ntg.2 + 1 1216 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K NM_004224 NP_004215 Q13585 MTR1L_HUMAN Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA. 360 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TGCTGTGGAGGAAACCCCGAT 0.632000 57 25 0 0 0.000878237 0 0 ZNF142 7701 broad.mit.edu 37 2 219510929 219510929 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:219510929G>A uc002vin.3 - 6 1852 c.1416C>T c.(1414-1416)ctC>ctT p.L472L ZNF142_uc002vil.3_Silent_p.L433L|ZNF142_uc010fvt.3_Silent_p.L309L|ZNF142_uc002vim.3_Silent_p.L309L NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGTGCACACGGAGGTAGTGCT 0.522000 112 12 0 0 0.000978159 0 0 CFB 629 broad.mit.edu 37 6 31905185 31905185 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:31905185G>A uc011dor.2 + 4 883 c.619G>A c.(619-621)Gaa>Aaa p.E207K CFB_uc003nyc.2_Missense_Mutation_p.E147K|CFB_uc011doo.2_Missense_Mutation_p.E114K|CFB_uc011dop.2_Missense_Mutation_p.E146K|CFB_uc003nyf.3_Missense_Mutation_p.E360K|CFB_uc010jtk.3_Missense_Mutation_p.E228K|CFB_uc011doq.2_Missense_Mutation_p.E331K|CFB_uc003nyh.2_Missense_Mutation_p.E11K NM_001710 NP_001701 P00751 CFAB_HUMAN Homo sapiens complement factor B (CFB), mRNA. 373 Sushi 3. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CCTCGGCATGGAAACGATGGC 0.488000 604 70 0 0 0.00361006 0 0 BTBD7 55727 broad.mit.edu 37 14 93728006 93728006 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:93728006G>A uc001ybo.3 - 4 1715 c.1389C>T c.(1387-1389)atC>atT p.I463I BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_Intron|BTBD7_uc001ybp.3_Silent_p.I112I|BTBD7_uc001ybq.4_Silent_p.I378I NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA. 463 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GATATTTAAGGATATCTTGTT 0.313000 118 19 0 0 0.000958276 0 0 LRP11 84918 broad.mit.edu 37 6 150164123 150164123 + Silent SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:150164123T>C uc003qng.2 - 2 1233 c.909A>G c.(907-909)acA>acG p.T303T LRP11_uc003qnh.1_Silent_p.T303T NM_032832 NP_116221 Q86VZ4 LRP11_HUMAN Homo sapiens low density lipoprotein receptor-related protein 11 (LRP11), mRNA. 303 PKD. integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) TCTCACCTCCTGTGGAGTAGG 0.592000 58 11 0 0 0.00185496 0 0 STAB1 23166 broad.mit.edu 37 3 52554133 52554133 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:52554133C>T uc003dej.3 + 50 5483 c.5409C>T c.(5407-5409)gtC>gtT p.V1803V STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 1803 FAS1 6. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TTCGCAATGTCGAGGTGGGTG 0.602000 55 7 0 0 0.00198382 0 0 VPS13B 157680 broad.mit.edu 37 8 100883688 100883688 + Missense_Mutation SNP G C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:100883688G>C uc003yiv.3 + 60 11694 c.11583G>C c.(11581-11583)caG>caC p.Q3861H VPS13B_uc003yiw.3_Missense_Mutation_p.Q3836H NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 3861 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) AAATGCTTCAGTCTCTGGGCA 0.522000 136 20 0 0 0.00229938 0 0 SORL1 6653 broad.mit.edu 37 11 121448073 121448073 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:121448073G>A uc001pxx.3 + 24 3673 c.3544G>A c.(3544-3546)Gac>Aac p.D1182N SORL1_uc010rzp.1_Missense_Mutation_p.D28N NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 1182 LDL-receptor class A 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CGGGGACAACGACTGCAGGGA 0.532000 121 10 0 0 0.000442599 0 0 CCT5 22948 broad.mit.edu 37 5 10263303 10263303 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:10263303C>T uc003jeq.3 + 9 1546 c.1375C>T c.(1375-1377)Ccc>Tcc p.P459S CCT5_uc011cmr.2_Missense_Mutation_p.P404S|CCT5_uc011cms.2_Missense_Mutation_p.P421S|CCT5_uc011cmt.2_Missense_Mutation_p.P366S NM_012073 NP_036205 P48643 TCPE_HUMAN Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA. 459 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 GGAGGTCATCCCCATGGCCCT 0.532000 63 12 0 0 0.00136819 0 0 FBXW4 6468 broad.mit.edu 37 10 103433373 103433373 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:103433373G>A uc001kto.3 - 2 760 c.414C>T c.(412-414)ttC>ttT p.F138F NM_022039 NP_071322 P57775 FBXW4_HUMAN Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA. 138 Wnt receptor signaling pathway|ubiquitin-dependent protein catabolic process ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) AGGCCAGGATGAAATTAGCCT 0.478000 51 9 0 0 0.000442599 0 0 TG 7038 broad.mit.edu 37 8 134031930 134031930 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:134031930C>T uc003ytw.3 + 38 6907 c.6866C>T c.(6865-6867)cCt>cTt p.P2289L TG_uc010mdw.3_Missense_Mutation_p.P1048L|TG_uc011ljb.2_Missense_Mutation_p.P658L|TG_uc011ljc.2_Missense_Mutation_p.P422L NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 2289 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTGTTCATCCCTCAGAATGTG 0.517000 87 8 0 0 0.000274275 0 0 MYH4 4622 broad.mit.edu 37 17 10362664 10362664 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10362664G>A uc002gmn.3 - 14 1602 c.1491C>T c.(1489-1491)ttC>ttT p.F497F AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 497 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin 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 GCTCCAGCACGAACATGTGGT 0.483000 124 12 0 0 0.00185496 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366608 7366608 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:7366608C>T uc002ghc.4 - 3 1943 c.1693G>A c.(1693-1695)Gga>Aga p.G565R ZBTB4_uc002ghd.4_Missense_Mutation_p.G565R NM_001128833 NP_065950 Q9P1Z0 ZBTB4_HUMAN Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA. 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) AGAGTCCTTCCAGCCCGTGGA 0.701000 26 6 0 0 0.00116845 0 0 AGBL1 123624 broad.mit.edu 37 15 86808051 86808051 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:86808051G>A uc002blz.1 + 9 1591 c.1511G>A c.(1510-1512)cGa>cAa p.R504Q AGBL1_uc002bma.1_Missense_Mutation_p.R235Q|AGBL1_uc002bmb.1_Missense_Mutation_p.R198Q NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 504 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATGTTGGAACGAAAATGTGGA 0.443000 48 11 0 0 0.00136819 0 0 CRX 1406 broad.mit.edu 37 19 48342936 48342936 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:48342936C>T uc002phq.4 + 3 816 c.612C>T c.(610-612)tcC>tcT p.S204S NM_000554 NP_000545 O43186 CRX_HUMAN Homo sapiens cone-rod homeobox (CRX), mRNA. 204 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TCTGCTCTTCCCCCTCCGCCT 0.677000 72 10 0 0 0.000442599 0 0 OR2M4 26245 broad.mit.edu 37 1 248402452 248402452 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248402452C>T uc010pzh.2 + 0 222 c.222C>T c.(220-222)atC>atT p.I74I NM_017504 NP_059974 Q96R27 OR2M4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA. 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I74F(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCATGCTCATCTGCACCACTC 0.458000 93 8 0 0 0.000274275 0 0 MYO5B 4645 broad.mit.edu 37 18 47431107 47431107 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:47431107G>A uc002leb.2 - 19 2794 c.2506C>T c.(2506-2508)Cgc>Tgc p.R836C MYO5B_uc002lea.2_5'Flank NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 836 Arg-rich.|IQ 3. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GCAGCTCTGCGGACCCTCTGG 0.642000 83 11 0 0 0.000673444 0 0 CEACAM8 1088 broad.mit.edu 37 19 43093613 43093613 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43093613G>A uc002oud.2 - 2 801 c.699C>T c.(697-699)gtC>gtT p.V233V AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA. 233 immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) ACTCACAGAGGACATTCAGGG 0.527000 111 12 0 0 0.00244969 0 0 RP1 6101 broad.mit.edu 37 8 55539962 55539962 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:55539962G>A uc003xsd.1 + 3 3668 c.3520G>A c.(3520-3522)Gag>Aag p.E1174K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1174 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) AGCTATCACAGAGGAAGCTGA 0.408000 57 6 0 0 0.00116845 0 0 CACNA1H 8912 broad.mit.edu 37 16 1260800 1260800 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:1260800G>A uc002cks.3 + 20 4300 c.4052G>A c.(4051-4053)gGg>gAg p.G1351E CACNA1H_uc002ckt.3_Missense_Mutation_p.G1351E|CACNA1H_uc002cku.3_Missense_Mutation_p.G57E|CACNA1H_uc010brj.3_Missense_Mutation_p.G57E|CACNA1H_uc002ckv.3_Missense_Mutation_p.G57E NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1351 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) GTGGCCCTGGGGCTGCTGTCC 0.697000 47 5 0 0 0.000602214 0 0 FKBP11 51303 broad.mit.edu 37 12 49315984 49315984 + Splice_Site SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:49315984G>A uc001rsp.3 - 6 508 c.389_splice c.e6-1 p.A130_splice FKBP11_uc010sma.2_Splice_Site_p.A28_splice|FKBP11_uc001rsq.4_3'UTR NM_016594 NP_057678 Q9NYL4 FKB11_HUMAN Homo sapiens FK506 binding protein 11, 19 kDa (FKBP11), transcript variant 1, mRNA. 130 PPIase FKBP-type. protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(3)|lung(1) 5 CACTGCATCCGCTGGAGAGGC 0.532000 57 12 0 0 0.00244969 0 0 TCRVA15 0 broad.mit.edu 37 14 22205078 22205078 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:22205078G>A uc001wbp.2 + 1 191 c.142G>A c.(142-144)Gat>Aat p.D48N TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript SubName: Full=Tcell alpha chain; Flags: Fragment; TGCTACAAATGATTATATCAC 0.423000 64 8 0 0 0.00307968 0 0 RP1 6101 broad.mit.edu 37 8 55539221 55539221 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:55539221C>T uc003xsd.1 + 3 2927 c.2779C>T c.(2779-2781)Cca>Tca p.P927S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 927 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) AAATCCATATCCAACTTTAAA 0.328000 39 6 0 0 0.00198382 0 0 DNAH11 8701 broad.mit.edu 37 7 21805064 21805064 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:21805064C>T uc003svc.3 + 55 9011 c.8980C>T c.(8980-8982)Cca>Tca p.P2994S NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 2994 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTGTTTCTCTCCAGTTGGTCG 0.502000 Kartagener syndrome 157 14 0 0 0.000566183 0 0 OR1N2 138882 broad.mit.edu 37 9 125315671 125315671 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:125315671C>T uc011lyx.2 + 0 223 c.223C>T c.(223-225)Ccc>Tcc p.P75S NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CCTCCATACTCCCATGTACTT 0.507000 137 16 0 0 0.000566183 0 0 FTSJ2 29960 broad.mit.edu 37 7 2279242 2279242 + Silent SNP G T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:2279242G>T uc003slm.3 - 1 138 c.109C>A c.(109-111)Cga>Aga p.R37R FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank NM_013393 NP_037525 Q9UI43 RRMJ2_HUMAN Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA. 37 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) CTGAGATGTCGGGTCAGCCAC 0.562000 125 7 0.00307968 0.00895213 0.00307968 1 0 MYOCD 93649 broad.mit.edu 37 17 12656507 12656507 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:12656507C>T uc002gno.2 + 9 2201 c.1902C>T c.(1900-1902)tcC>tcT p.S634S MYOCD_uc002gnn.2_Silent_p.S634S|MYOCD_uc002gnp.1_Silent_p.S538S|MYOCD_uc002gnq.2_Silent_p.S353S NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 634 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding p.S634S(3) 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) CCCAGTGTTCCCCTCAGCATT 0.547000 122 15 0 0 0.00400662 0 0 CCDC170 80129 broad.mit.edu 37 6 151865752 151865752 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:151865752G>A uc003qol.3 + 3 578 c.489G>A c.(487-489)aaG>aaA p.K163K NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 163 AAGTTTCAAAGAATTGCAGGA 0.348000 37 7 0 0 0.00198382 0 0 B4GALT3 8703 broad.mit.edu 37 1 161141693 161141693 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:161141693G>A uc001fys.2 - 7 1751 c.1095C>T c.(1093-1095)ttC>ttT p.F365F PPOX_uc001fyi.2_Intron|PPOX_uc010pkh.1_Intron|B4GALT3_uc001fyr.2_Silent_p.F365F|B4GALT3_uc001fyq.2_Silent_p.F365F|B4GALT3_uc001fyp.1_Non-coding_Transcript NM_001199874 NP_001186803 O60512 B4GT3_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3), transcript variant 3, mRNA. 365 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) TCTCTTGACGGAAGGCTTGGG 0.612000 91 7 0 0 0.00198382 0 0 PROSER1 80209 broad.mit.edu 37 13 39597248 39597248 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:39597248G>A uc001uwy.3 - 7 1457 c.584C>T c.(583-585)cCa>cTa p.P195L PROSER1_uc001uwz.3_Missense_Mutation_p.P173L NM_025138 NP_079414 Q86XN7 CM023_HUMAN Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA. 195 Pro-rich. AGGTTTATGTGGATTATATGT 0.378000 54 5 0 0 0.00198382 0 0 NRXN1 9378 broad.mit.edu 37 2 50850704 50850704 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:50850704G>A uc021vhh.1 - 4 1803 c.882C>T c.(880-882)taC>taT p.Y294Y NRXN1_uc002rxb.4_5'UTR|NRXN1_uc021vhg.1_Silent_p.Y327Y|NRXN1_uc021vhi.1_Silent_p.Y323Y|NRXN1_uc021vhj.1_Silent_p.Y290Y|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 294 Laminin G-like 2. 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) GAGACAAGTCGTAGCAGAAGT 0.378000 34 5 0 0 0.000602214 0 0 FBXW10 10517 broad.mit.edu 37 17 18682422 18682422 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:18682422G>A uc002gul.3 + 11 3229 c.2997G>A c.(2995-2997)gtG>gtA p.V999V FBXW10_uc002guj.3_Silent_p.V989V|FBXW10_uc002guk.3_Silent_p.V990V|FBXW10_uc010cqh.2_Silent_p.V937V|FAM18B1_uc002gum.2_5'Flank NM_031456 NP_113644 Q5XX13 FBW10_HUMAN Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA. 990 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 TGTTGACCGTGAAGGAGGAGA 0.512000 89 14 0 0 0.00074312 0 0 SNTG1 54212 broad.mit.edu 37 8 51449301 51449301 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:51449301G>A uc010lxy.1 + 11 984 c.613G>A c.(613-615)Gac>Aac p.D205N SNTG1_uc003xqs.1_Missense_Mutation_p.D205N|SNTG1_uc010lxz.1_Missense_Mutation_p.D205N|SNTG1_uc011ldl.1_Non-coding_Transcript NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA. 205 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GCGATGGTGCGACCTCAGACT 0.478000 122 10 0 0 0.000442599 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112018069 112018069 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:112018069G>A uc004bdz.1 - 9 1279 c.984C>T c.(982-984)gtC>gtT p.V328V EPB41L4B_uc004bea.3_Silent_p.V328V NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 328 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CATCATCCTCGACCACCACGA 0.458000 88 8 0 0 0.000274275 0 0 ZNF234 10780 broad.mit.edu 37 19 44660662 44660662 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:44660662C>T uc002oym.3 + 5 800 c.493C>T c.(493-495)Ctt>Ttt p.L165F ZNF234_uc002oyl.4_Missense_Mutation_p.L165F NM_006630 NP_006621 Q14588 ZN234_HUMAN Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA. 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) CAACTTTGATCTTCATCAACA 0.398000 70 7 0 0 0.00307968 0 0 APBB2 323 broad.mit.edu 37 4 40892394 40892394 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:40892394G>A uc003gvn.3 - 11 2146 c.1516C>T c.(1516-1518)Cgc>Tgc p.R506C APBB2_uc010ifu.3_Missense_Mutation_p.R77C|APBB2_uc003gvl.3_Missense_Mutation_p.R505C|APBB2_uc003gvm.3_Missense_Mutation_p.R484C|APBB2_uc011byt.1_Missense_Mutation_p.R467C NM_004307 NP_004298 Q92870 APBB2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA. 505 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CCATTGTCGCGGCCCACGCCC 0.642000 35 5 0 0 0.000602214 0 0 C12orf54 121273 broad.mit.edu 37 12 48884616 48884616 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:48884616C>T uc001rrr.3 + 5 321 c.190C>T c.(190-192)Cga>Tga p.R64* C12orf54_uc009zky.1_Non-coding_Transcript NM_152319 NP_689532 Q6X4T0 CL054_HUMAN Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA. 64 endometrium(1)|large_intestine(4) 5 TGCTCGGATTCGAGGTAAAAC 0.433000 110 8 0 0 0.000442599 0 0 C4orf26 152816 broad.mit.edu 37 4 76489604 76489604 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:76489604C>T uc011cbo.2 + 2 427 c.392C>T c.(391-393)tCc>tTc p.S131F C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_Silent_p.F116F NM_001206981 NP_001193910 Q17RF5 CD026_HUMAN Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA. 0 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ATAGGTATTTCCCCAGAAGAA 0.433000 217 18 0 0 0.00121646 0 0 CACNA1E 777 broad.mit.edu 37 1 181701992 181701992 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:181701992C>T uc009wxt.3 + 19 2965 c.2770C>T c.(2770-2772)Cgc>Tgc p.R924C CACNA1E_uc001gow.3_Missense_Mutation_p.R924C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R905C|CACNA1E_uc001gox.1_Missense_Mutation_p.R150C NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 924 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CAGCCGGCATCGCCGCGTCAG 0.647000 136 17 0 0 0.000958276 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140730519 140730519 + Missense_Mutation SNP A C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140730519A>C uc003ljo.2 + 0 692 c.692A>C c.(691-693)gAt>gCt p.D231A PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.D231A NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 234 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGTTACGGATGCCAATGAT 0.562000 69 6 0 0 0.000274275 0 0 SLC26A9 115019 broad.mit.edu 37 1 205904826 205904826 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:205904826G>A uc001hdp.3 - 1 237 c.123C>T c.(121-123)ttC>ttT p.F41F SLC26A9_uc001hdq.3_Silent_p.F41F NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 41 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity p.F41L(1) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CCAGTTACCTGAAGGCATTGC 0.537000 204 24 0 0 0.00127121 0 0 ZNF638 27332 broad.mit.edu 37 2 71592753 71592753 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:71592753C>T uc002shx.3 + 5 2235 c.1912C>T c.(1912-1914)Cgt>Tgt p.R638C ZNF638_uc010fec.2_Missense_Mutation_p.R744C|ZNF638_uc010yqw.1_Missense_Mutation_p.R217C|ZNF638_uc002shw.3_Missense_Mutation_p.R638C|ZNF638_uc002shz.3_Missense_Mutation_p.R638C|ZNF638_uc002shy.3_Missense_Mutation_p.R638C|ZNF638_uc002sia.3_Missense_Mutation_p.R638C|ZNF638_uc002sib.1_Missense_Mutation_p.R638C NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 638 RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding p.R638C(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 ACATTCTATTCGTTGTAAATC 0.363000 39 5 0 0 0.000602214 0 0 LRP2 4036 broad.mit.edu 37 2 170099976 170099976 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:170099976C>T uc002ues.3 - 22 3700 c.3487G>A c.(3487-3489)Gac>Aac p.D1163N LRP2_uc010zdf.1_Missense_Mutation_p.D1026N NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 1163 LDL-receptor class A 11. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity 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) AACGATAGGTCAATACATCGA 0.393000 74 10 0 0 0.000978159 0 0 FAT3 120114 broad.mit.edu 37 11 92086880 92086880 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:92086880G>A uc001pdj.4 + 0 1619 c.1602G>A c.(1600-1602)ctG>ctA p.L534L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 534 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGAAGAACTGGATTTTGAAT 0.398000 TCGA Ovarian(4;0.039) 448 42 0 0 0.00285205 0 0 LRRC8D 55144 broad.mit.edu 37 1 90399799 90399799 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:90399799C>T uc021opq.1 + 0 1172 c.1172C>T c.(1171-1173)cCt>cTt p.P391L LRRC8D_uc001dnm.3_Missense_Mutation_p.P391L|LRRC8D_uc001dnn.3_Missense_Mutation_p.P391L NM_018103 NP_060573 Q7L1W4 LRC8D_HUMAN Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA. 391 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) TTCAGGATACCTTTGAAGGAA 0.368000 87 19 0 0 0.00074312 0 0 TMEM55A 55529 broad.mit.edu 37 8 92032399 92032399 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:92032399G>A uc003yes.3 - 2 574 c.348C>T c.(346-348)tgC>tgT p.C116C NM_018710 NP_061180 Q8N4L2 TM55A_HUMAN Homo sapiens transmembrane protein 55A (TMEM55A), mRNA. 116 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) TGGGTCTTGGGCATCCTATTC 0.383000 44 11 0 0 0.00316338 0 0 ANKRD5 63926 broad.mit.edu 37 20 10033912 10033912 + Nonsense_Mutation SNP A T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:10033912A>T uc002wno.3 + 8 2416 c.2023A>T c.(2023-2025)Aag>Tag p.K675* LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Nonsense_Mutation_p.K675*|ANKRD5_uc010gbz.3_Nonsense_Mutation_p.K486* NM_022096 NP_942093 Q9NU02 ANKR5_HUMAN Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA. 675 calcium ion binding breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 37 CCCTGAAATTAAGAAAGAAGA 0.363000 66 9 0 0 0.000442599 0 0 SYNE2 23224 broad.mit.edu 37 14 64457194 64457194 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:64457194G>A uc001xgl.3 + 19 2609 c.2379G>A c.(2377-2379)atG>atA p.M793I SYNE2_uc001xgm.3_Missense_Mutation_p.M793I|SYNE2_uc021ruh.1_Missense_Mutation_p.M793I NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 793 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTTACAAATGGATATACAAA 0.368000 105 12 0 0 0.00185496 0 0 ZNF229 7772 broad.mit.edu 37 19 44934694 44934694 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:44934694C>T uc002oze.1 - 5 696 c.262G>A c.(262-264)Gag>Aag p.E88K ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.E82K NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 88 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGAATATACTCCGTATCCTTT 0.418000 37 5 0 0 0.00116845 0 0 ECM2 1842 broad.mit.edu 37 9 95285090 95285090 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:95285090C>T uc011lty.2 - 1 246 c.59G>A c.(58-60)gGa>gAa p.G20E CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.G20E|ECM2_uc004asg.3_Missense_Mutation_p.G20E|ECM2_uc011ltz.1_Missense_Mutation_p.G20E|ECM2_uc004asi.3_Missense_Mutation_p.G20E NM_001393 NP_001384 O94769 ECM2_HUMAN Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA. 20 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 TTCATTTTTTCCAAAGTCAGT 0.348000 55 17 0 0 0.000566183 0 0 CECR2 27443 broad.mit.edu 37 22 18028054 18028054 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:18028054C>T uc010gqw.1 + 15 3005 c.3005C>T c.(3004-3006)cCc>cTc p.P1002L CECR2_uc010gqv.1_Missense_Mutation_p.P862L|CECR2_uc002zml.2_Missense_Mutation_p.P863L|CECR2_uc002zmo.2_Non-coding_Transcript NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA. 1046 DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AATCCCTGGCCCTCGGATAGC 0.602000 29 5 0 0 0.00116845 0 0 KIF4B 285643 broad.mit.edu 37 5 154395849 154395849 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:154395849G>A uc010jih.1 + 0 2590 c.2430G>A c.(2428-2430)ttG>ttA p.L810L NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 810 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTCAAGTTTTGGAGTCAGAAG 0.438000 31 7 0 0 0.00307968 0 0 ZNF835 90485 broad.mit.edu 37 19 57176174 57176174 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:57176174G>A uc010ygn.2 - 1 620 c.393C>T c.(391-393)atC>atT p.I131I NM_001005850 NP_001005850 Homo sapiens zinc finger protein 835 (ZNF835), mRNA. endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CCCCGGTGTGGATTCTCTGGT 0.637000 39 12 0 0 0.00400662 0 0 C15orf27 123591 broad.mit.edu 37 15 76430217 76430217 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:76430217G>A uc002bbq.3 + 2 363 c.208G>A c.(208-210)Gaa>Aaa p.E70K C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR NM_152335 NP_689548 Q2M3C6 CO027_HUMAN Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA. 70 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 AAATCTGGACGAAGATTACCA 0.577000 57 10 0 0 0.000442599 0 0 MYH11 4629 broad.mit.edu 37 16 15814883 15814883 + Missense_Mutation SNP C G G rs137934837 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:15814883C>G uc002ddx.3 - 33 4732 c.4625G>C c.(4624-4626)cGg>cCg p.R1542P MYH11_uc002ddv.3_Missense_Mutation_p.R1542P|MYH11_uc002ddw.3_Missense_Mutation_p.R1535P|MYH11_uc002ddy.3_Missense_Mutation_p.R1535P|MYH11_uc010bvg.3_Missense_Mutation_p.R1367P|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.R241P|NDE1_uc002ddz.1_5'Flank NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 1535 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTCCAGGGCCCGCTTGGACTT 0.602000 T CBFB AML 61 12 0 0 0.00185496 0 0 SLC7A2 6542 broad.mit.edu 37 8 17401052 17401052 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:17401052C>T uc011kye.2 + 1 372 c.324C>T c.(322-324)atC>atT p.I108I SLC7A2_uc011kyc.2_Silent_p.I68I|SLC7A2_uc011kyd.2_Silent_p.I108I NM_001164771 NP_001158243 P52569 CTR2_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA. 68 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GCCCCAGCATCGTGGTGTCCT 0.617000 31 5 0 0 0.00116845 0 0 HTR3B 9177 broad.mit.edu 37 11 113780094 113780094 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:113780094C>T uc001pok.3 + 1 268 c.130C>T c.(130-132)Cat>Tat p.H44Y HTR3B_uc001pol.3_Missense_Mutation_p.H33Y NM_006028 NP_006019 O95264 5HT3B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA. 44 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) ACAGAAATATCATAAAGAAGT 0.438000 77 11 0 0 0.000978159 0 0 AQP9 366 broad.mit.edu 37 15 58430789 58430789 + Missense_Mutation SNP G A A rs150714814 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:58430789G>A uc002aez.2 + 0 382 c.25G>A c.(25-27)Gga>Aga p.G9R ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Intron NM_020980 NP_066190 O43315 AQP9_HUMAN Homo sapiens aquaporin 9 (AQP9), mRNA. 9 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) AGCAGAAAAGGGAAAAAGCTT 0.473000 67 6 0 0 0.00116845 0 0 APBB1IP 54518 broad.mit.edu 37 10 26825070 26825070 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:26825070G>A uc001iss.3 + 9 1289 c.968G>A c.(967-969)gGa>gAa p.G323E APBB1IP_uc009xks.1_Missense_Mutation_p.G323E NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA. 323 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium p.G323E(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 AAAGAAGATGGAAAGAAATCC 0.368000 178 34 0 0 0.00375469 0 0 SAMD7 344658 broad.mit.edu 37 3 169642886 169642886 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:169642886C>T uc003fgd.3 + 4 519 c.252C>T c.(250-252)gcC>gcT p.A84A SAMD7_uc003fge.3_Silent_p.A84A|SAMD7_uc011bpo.2_5'UTR NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 84 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AGGCAGTGGCCAGAAGGAATG 0.358000 49 7 0 0 0.000274275 0 0 AVIL 10677 broad.mit.edu 37 12 58204655 58204655 + Missense_Mutation SNP C A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:58204655C>A uc001sqj.2 - 4 531 c.502G>T c.(502-504)Ggg>Tgg p.G168W AVIL_uc009zqe.2_Missense_Mutation_p.G161W|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Missense_Mutation_p.G145W|JA611266_uc021qzr.1_5'Flank NM_006576 NP_006567 O75366 AVIL_HUMAN Homo sapiens advillin (AVIL), mRNA. 168 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) ATGACTTTCCCAAGGTCCAGC 0.493000 127 7 0.00307968 0.00895213 0.00307968 1 0 SORL1 6653 broad.mit.edu 37 11 121414377 121414377 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:121414377G>A uc001pxx.3 + 12 1935 c.1806G>A c.(1804-1806)tcG>tcA p.S602S NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 602 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TCTTTGGCTCGAACAAAGAGA 0.507000 109 14 0 0 0.00074312 0 0 GFRA1 2674 broad.mit.edu 37 10 117825120 117825120 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:117825120G>A uc001lcj.3 - 9 1913 c.1215C>T c.(1213-1215)tcC>tcT p.S405S GFRA1_uc001lci.3_Silent_p.S400S|GFRA1_uc009xyr.3_Silent_p.S400S NM_005264 NP_005255 P56159 GFRA1_HUMAN Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA. 405 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) CCGACACATTGGATTTCAGCT 0.433000 33 6 0 0 0.00198382 0 0 FCHO1 23149 broad.mit.edu 37 19 17888970 17888970 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:17888970G>A uc002nhg.3 + 18 1563 c.1284G>A c.(1282-1284)gaG>gaA p.E428E FCHO1_uc010ebb.2_Silent_p.E428E|FCHO1_uc002nhh.2_Silent_p.E428E|FCHO1_uc010xpw.1_Silent_p.E378E NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 428 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 TGCAGTCAGAGGAGCAGGTGT 0.557000 84 8 0 0 0.000274275 0 0 CCDC158 339965 broad.mit.edu 37 4 77317555 77317555 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:77317555G>A uc003hkb.4 - 2 308 c.155C>T c.(154-156)cCt>cTt p.P52L CCDC158_uc003hkd.3_Missense_Mutation_p.P52L NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 52 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 AGGGAAAAAAGGAACCTGTGT 0.343000 71 7 0 0 0.00307968 0 0 ZNF623 9831 broad.mit.edu 37 8 144732969 144732969 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:144732969C>T uc003yzd.2 + 0 1016 c.927C>T c.(925-927)caC>caT p.H309H ZNF623_uc011lkp.1_Silent_p.H269H|ZNF623_uc003yzc.2_Silent_p.H269H NM_014789 NP_055604 O75123 ZN623_HUMAN Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA. 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TTATTGAACACCAGAGAATTC 0.458000 73 10 0 0 0.00136819 0 0 ABCC3 8714 broad.mit.edu 37 17 48752800 48752800 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:48752800G>A uc002isl.3 + 19 2757 c.2677G>A c.(2677-2679)Gat>Aat p.D893N NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 893 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GACAGACAATGATCCAGTCAC 0.567000 68 9 0 0 0.000442599 0 0 C10orf68 79741 broad.mit.edu 37 10 33143406 33143406 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:33143406C>T uc001iwm.1 + 19 2077 c.1841C>T c.(1840-1842)cCt>cTt p.P614L C10orf68_uc001iwl.1_Missense_Mutation_p.P569L|C10orf68_uc001iwn.4_Missense_Mutation_p.P610L|C10orf68_uc010qei.1_Missense_Mutation_p.P586L|C10orf68_uc001iwo.4_Non-coding_Transcript NM_024688 NP_078964 Q9H943 CJ068_HUMAN Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA. 610 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 GTTGGAAAACCTACCTATAAA 0.343000 20 6 0 0 0.00116845 0 0 OR51E1 143503 broad.mit.edu 37 11 4674628 4674628 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:4674628C>T uc021qcq.1 + 0 872 c.872C>T c.(871-873)cCa>cTa p.P291L OR51E1_uc001lzi.4_Missense_Mutation_p.P291L NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) GTGCTCAACCCAATTGTCTAT 0.512000 88 12 0 0 0.00185496 0 0 HTR2A 3356 broad.mit.edu 37 13 47466724 47466724 + Splice_Site SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:47466724C>T uc010acr.3 - 3 1102 c.413_splice c.e3-1 p.G138_splice HTR2A_uc001vbr.3_Splice_Site_p.W54_splice NM_000621 NP_000612 P28223 5HT2A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA. 138 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) GCCACCGGTACCCTATGAGGC 0.572000 45 4 0 0 0.00024832 0 0 C6 729 broad.mit.edu 37 5 41158779 41158779 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:41158779G>A uc003jmk.2 - 12 2175 c.1965C>T c.(1963-1965)atC>atT p.I655I C6_uc003jml.1_Silent_p.I655I NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 655 C5b-binding domain.|Sushi 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCTGACCCGGATAAATCCAT 0.388000 30 5 0 0 0.00116845 0 0 PCLO 27445 broad.mit.edu 37 7 82764435 82764435 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:82764435C>T uc003uhx.2 - 2 2720 c.2431G>A c.(2431-2433)Gaa>Aaa p.E811K PCLO_uc003uhv.2_Missense_Mutation_p.E811K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 757 Pro-rich. 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 CTGACTTTTTCCCCTGTTGGT 0.433000 185 19 0 0 0.00395357 0 0 TARBP1 6894 broad.mit.edu 37 1 234596109 234596109 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:234596109G>A uc001hwd.3 - 6 1433 c.1433C>T c.(1432-1434)aCa>aTa p.T478I NM_005646 NP_005637 Q13395 TARB1_HUMAN Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA. 478 RNA processing|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) ATGCCTACTTGTCATCTTCCG 0.388000 52 6 0 0 0.00198382 0 0 COL14A1 7373 broad.mit.edu 37 8 121381578 121381578 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:121381578G>A uc003yox.3 + 46 5430 c.5165G>A c.(5164-5166)gGg>gAg p.G1722E COL14A1_uc003yoz.3_Missense_Mutation_p.G687E NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1722 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGACCTTCAGGGGAGAGTCGG 0.557000 61 8 0 0 0.000442599 0 0 MCL1 4170 broad.mit.edu 37 1 150551372 150551372 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:150551372G>A uc001euz.3 - 0 843 c.635C>T c.(634-636)aCc>aTc p.T212I MCL1_uc010pch.2_Missense_Mutation_p.T102I|MCL1_uc021oyf.1_Missense_Mutation_p.T59I|MCL1_uc001eva.3_Missense_Mutation_p.T212I NM_021960 NP_068779 Q07820 MCL1_HUMAN Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 212 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCGTCGTAAGGTCTCCAGCGC 0.602000 82 19 0 0 0.00152264 0 0 HTR3E 285242 broad.mit.edu 37 3 183818415 183818415 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:183818415C>T uc010hxr.3 + 0 449 c.255C>T c.(253-255)ttC>ttT p.F85F HTR3E_uc010hxq.3_Silent_p.F70F|HTR3E_uc003fml.4_Silent_p.F70F|HTR3E_uc003fmm.3_Silent_p.F85F|HTR3E_uc003fmn.3_Silent_p.F85F NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA. 70 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ACATCTCCTTCGCGATGTCTG 0.557000 105 29 0 0 0.00127121 0 0 NPR1 4881 broad.mit.edu 37 1 153659212 153659212 + Missense_Mutation SNP C A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:153659212C>A uc001fcs.4 + 10 2270 c.1849C>A c.(1849-1851)Cgt>Agt p.R617S NPR1_uc010pdz.2_Missense_Mutation_p.R363S|NPR1_uc010pea.2_Missense_Mutation_p.R95S NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 617 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GTACTGTCCCCGTGGGAGCCT 0.607000 67 7 0.00198382 0.00580084 0.00198382 1 0 ERBB4 2066 broad.mit.edu 37 2 212251634 212251634 + Missense_Mutation SNP C T T rs3748961 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:212251634C>T uc002veg.1 - 26 3523 c.3425G>A c.(3424-3426)cGa>cAa p.R1142Q ERBB4_uc002veh.1_Missense_Mutation_p.R1126Q|ERBB4_uc010zji.1_Missense_Mutation_p.R1132Q|ERBB4_uc010zjj.1_Missense_Mutation_p.R1116Q NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 1142 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) CAGCTCTCCTCGTGGGCTCCG 0.537000 TSP Lung(8;0.080) 74 10 0 0 0.00136819 0 0 IREB2 3658 broad.mit.edu 37 15 78780592 78780592 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:78780592G>A uc002bdr.2 + 14 2027 c.1865G>A c.(1864-1866)cGt>cAt p.R622H IREB2_uc010unb.1_Missense_Mutation_p.R372H NM_004136 NP_004127 P48200 IREB2_HUMAN Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA. 622 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) GATTGTGTTCGTGCCAATTAT 0.378000 100 11 0 0 0.000673444 0 0 LIN28B 389421 broad.mit.edu 37 6 105405976 105405976 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:105405976G>A uc003pqv.1 + 1 216 c.13G>A c.(13-15)Ggg>Agg p.G5R LIN28B_uc010kda.1_5'UTR NM_001004317 NP_001004317 Q6ZN17 LN28B_HUMAN Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA. 5 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|protein binding|zinc ion binding p.G4S(1) large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) CTTCTCAGGCGGGGCTAGCAA 0.517000 93 11 0 0 0.000978159 0 0 ADAM7 8756 broad.mit.edu 37 8 24365042 24365042 + Missense_Mutation SNP C G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:24365042C>G uc003xeb.3 + 20 2371 c.2258C>G c.(2257-2259)gCc>gGc p.A753G ADAM7_uc003xec.3_Intron NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 753 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) AATCAAAGTGCCAAGTGGTAG 0.378000 63 5 0 0 0.00198382 0 0 DMBT1 1755 broad.mit.edu 37 10 124390648 124390648 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:124390648G>A uc001lgk.1 + 45 5916 c.5810G>A c.(5809-5811)gGa>gAa p.G1937E DMBT1_uc001lgl.1_Missense_Mutation_p.G1927E|DMBT1_uc001lgm.1_Missense_Mutation_p.G1309E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1937E|DMBT1_uc021qag.1_Missense_Mutation_p.G1927E|DMBT1_uc021qah.1_Missense_Mutation_p.G1309E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1937E|DMBT1_uc010qtx.1_Missense_Mutation_p.G657E|DMBT1_uc009yab.1_Missense_Mutation_p.G640E|DMBT1_uc009yac.1_Missense_Mutation_p.G231E NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1937 SRCR 14. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCAGCCCTTGGAAATGCATAT 0.582000 57 11 0 0 0.000673444 0 0 PHYH 5264 broad.mit.edu 37 10 13337514 13337514 + Missense_Mutation SNP G A A rs141855372 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:13337514G>A uc001imf.3 - 2 315 c.227C>T c.(226-228)gCc>gTc p.A76V PHYH_uc001ime.3_5'UTR NM_006214 NP_001032626 O14832 PAHX_HUMAN Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA. 76 fatty acid alpha-oxidation|nervous system development peroxisomal matrix L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TTGAATATCGGCATCAGGTAC 0.353000 79 5 0 0 0.000602214 0 0 TTC14 151613 broad.mit.edu 37 3 180322051 180322051 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:180322051C>T uc003fkk.3 + 3 657 c.525C>T c.(523-525)aaC>aaT p.N175N TTC14_uc003fkl.3_Silent_p.N175N|TTC14_uc003fkm.2_Silent_p.N175N NM_133462 NP_597719 Q96N46 TTC14_HUMAN Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA. 175 S1 motif. RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTCACAGTAACCATGGGGATC 0.338000 68 12 0 0 0.00185496 0 0 MYT1L 23040 broad.mit.edu 37 2 1926616 1926616 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:1926616C>T uc002qxe.3 - 9 1752 c.925G>A c.(925-927)Gga>Aga p.G309R MYT1L_uc002qxd.3_Missense_Mutation_p.G309R|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 309 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCCATGAGTCCGTTGTTCATG 0.483000 161 13 0 0 0.00185496 0 0 CYP2C19 1557 broad.mit.edu 37 10 96612490 96612490 + Splice_Site SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:96612490G>A uc010qnz.2 + 9 1292 c.1292_splice c.e9-1 p.G431_splice CYP2C19_uc010qny.2_Splice_Site_p.G409_splice NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 431 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTATTTTCAGGAAAACGGATT 0.423000 51 17 0 0 0.00152264 0 0 FYN 2534 broad.mit.edu 37 6 111995755 111995755 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:111995755G>A uc003pvj.3 - 11 1692 c.1352C>T c.(1351-1353)tCt>tTt p.S451F FYN_uc003pvi.3_Missense_Mutation_p.S396F|FYN_uc003pvk.3_Missense_Mutation_p.S451F|FYN_uc003pvh.3_Missense_Mutation_p.S448F NM_002037 NP_002028 P06241 FYN_HUMAN Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA. 451 Protein kinase. T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) GATTCCAAAAGACCACACGTC 0.527000 165 13 0 0 0.00185496 0 0 CSHL1 1444 broad.mit.edu 37 17 61987861 61987861 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:61987861G>A uc002jda.1 - 2 287 c.225C>T c.(223-225)ttC>ttT p.F75F CSHL1_uc002jcz.1_Intron|CSHL1_uc002jdb.1_5'UTR|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc021ubn.1_Missense_Mutation_p.S106F NM_022579 NP_001309 Q14406 CSHL_HUMAN Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA. 75 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 AGTCATGCAGGAATGAATACT 0.517000 144 21 0 0 0.00278032 0 0 POTEF 728378 broad.mit.edu 37 2 130877882 130877882 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:130877882G>A uc010fmh.2 - 2 607 c.207C>T c.(205-207)ttC>ttT p.F69F NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 69 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TGCAGCAGGGGAAGCAGTGGC 0.592000 222 25 0 0 0.001512 0 0 ADCY8 114 broad.mit.edu 37 8 132052058 132052058 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:132052058G>A uc003ytd.4 - 0 778 c.522C>T c.(520-522)ttC>ttT p.F174F ADCY8_uc010mds.3_Silent_p.F174F NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 174 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.F174L(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTTGGCCCAAGAAATAGCGCT 0.547000 HNSCC(32;0.087) 55 6 0 0 0.00116845 0 0 NKAPL 222698 broad.mit.edu 37 6 28227578 28227578 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:28227578C>T uc003nkt.3 + 0 481 c.429C>T c.(427-429)ttC>ttT p.F143F ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN Homo sapiens NFKB activating protein-like (NKAPL), mRNA. 143 p.K142R(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 CTCCAAAGTTCCCTCAGCTAG 0.517000 199 20 0 0 0.00229938 0 0 MYH4 4622 broad.mit.edu 37 17 10356585 10356585 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10356585C>T uc002gmn.3 - 23 3106 c.2995G>A c.(2995-2997)Gag>Aag p.E999K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 999 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin 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 GCCTTCTTCTCCTTGGTCAGC 0.488000 178 14 0 0 0.000566183 0 0 C10orf54 64115 broad.mit.edu 37 10 73511448 73511449 + Missense_Mutation DNP CC TT TT TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:73511448_73511449CC>TT uc001jsd.3 - 5 1015_1016 c.874_875GG>AA c.(874-876)gga>AAa p.G292K CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.G160K NM_022153 NP_071436 Q9H7M9 GI24_HUMAN Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA. 292 integral to membrane receptor activity p.G292R(2) breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GAAGACGTCTCCGGGGCCTGGA 0.619000 48 12 0 0 6.4e-05 0 0 OR4M2 390538 broad.mit.edu 37 15 22369154 22369154 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:22369154C>T uc010tzu.2 + 0 677 c.579C>T c.(577-579)ttC>ttT p.F193F abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CCAACACCTTCCCAGAGGAGT 0.473000 93 9 0 0 0.000978159 0 0 DBC1 1620 broad.mit.edu 37 9 122011315 122011315 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:122011315C>T uc004bkc.2 - 2 788 c.332G>A c.(331-333)aGa>aAa p.R111K DBC1_uc004bkd.2_Missense_Mutation_p.R111K NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 111 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 AGTGGTAGGTCTCCTGCCAAG 0.567000 68 8 0 0 0.000442599 0 0 MYO7A 4647 broad.mit.edu 37 11 76924904 76924904 + Splice_Site SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:76924904G>A uc001oyb.2 + 48 6711 c.6439_splice c.e48-1 p.D2147_splice MYO7A_uc001oyc.2_Splice_Site_p.D2107_splice|MYO7A_uc001oye.2_Splice_Site NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 2147 FERM 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGCTCCCCCAGGATATCCTCA 0.602000 79 7 0 0 0.00198382 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46058021 46058021 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr21:46058021C>T uc002zfq.3 + 0 749 c.687C>T c.(685-687)ctC>ctT p.L229L TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA. 229 keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 GTGTTTCCCTCCTCTGCCGCC 0.682000 77 9 0 0 0.000274275 0 0 PHC3 80012 broad.mit.edu 37 3 169846701 169846701 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:169846701G>A uc003fgl.2 - 7 1593 c.1559C>T c.(1558-1560)tCt>tTt p.S520F PHC3_uc010hws.1_Missense_Mutation_p.S508F|PHC3_uc011bpq.1_Missense_Mutation_p.S467F|PHC3_uc011bpr.1_Missense_Mutation_p.S434F NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA. 508 Gln-rich.|Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding p.Q520Q(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) AGCTGGAGGAGATGTCGACAT 0.517000 66 23 0 0 0.00278032 0 0 MYH2 4620 broad.mit.edu 37 17 10435139 10435139 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10435139C>T uc010coi.3 - 21 2636 c.2508G>A c.(2506-2508)atG>atA p.M836I AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.M836I|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 836 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AGAAGAGTTTCATCCAGGGCC 0.403000 85 7 0 0 0.00198382 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138714531 138714532 + Missense_Mutation DNP GG AA AA TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:138714531_138714532GG>AA uc004cgr.4 - 10 1975_1976 c.1975_1976CC>TT c.(1975-1977)ccc>TTc p.P659F CAMSAP1_uc004cgq.4_Missense_Mutation_p.P549F|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P381F NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA. 659 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) GATGCCCATGGGGAATTCTGAG 0.594000 46 5 0 0 6.4e-05 0 0 ATP8A1 10396 broad.mit.edu 37 4 42583715 42583715 + Nonsense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:42583715G>A uc003gwr.2 - 9 989 c.757C>T c.(757-759)Cga>Tga p.R253* ATP8A1_uc003gws.2_Nonsense_Mutation_p.R253*|ATP8A1_uc011byz.1_Nonsense_Mutation_p.R253* NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 253 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TGAGCTCCTCGAAGAAGAATC 0.408000 94 8 0 0 0.000673444 0 0 DPP6 1804 broad.mit.edu 37 7 154561201 154561201 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:154561201G>A uc003wlk.3 + 8 1087 c.958G>A c.(958-960)Gat>Aat p.D320N DPP6_uc003wli.3_Missense_Mutation_p.D256N|DPP6_uc003wlm.3_Missense_Mutation_p.D258N|DPP6_uc011kvq.2_Missense_Mutation_p.D213N NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 320 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CGCCATCAATGATTCCCGTGT 0.547000 50 9 0 0 0.000673444 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74651289 74651289 + Missense_Mutation SNP G T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:74651289G>T uc004ecg.3 - 4 924 c.446C>A c.(445-447)gCt>gAt p.A149D ZDHHC15_uc004ech.3_Missense_Mutation_p.A140D|ZDHHC15_uc011mqo.1_Non-coding_Transcript NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA. 149 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 CACTTACATAGCACAGACAGA 0.453000 21 7 1.12685e-05 3.32259e-05 0.000274275 1 0 OTX2 5015 broad.mit.edu 37 14 57269016 57269016 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:57269016C>T uc001xcq.3 - 4 605 c.331G>A c.(331-333)Gga>Aga p.G111R OTX2_uc001xcp.3_Missense_Mutation_p.G103R|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Missense_Mutation_p.G103R NM_021728 NP_068374 P32243 OTX2_HUMAN Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA. 103 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) TTTTGACCTCCATTCTGCTGT 0.453000 120 9 0 0 0.000274275 0 0 HGF 3082 broad.mit.edu 37 7 81372765 81372765 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:81372765C>T uc003uhl.3 - 6 934 c.769G>A c.(769-771)Gat>Aat p.D257N HGF_uc003uhm.3_Missense_Mutation_p.D252N|HGF_uc003uhn.1_Missense_Mutation_p.D257N|HGF_uc003uho.1_Missense_Mutation_p.D252N NM_000601 NP_000592 P14210 HGF_HUMAN Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA. 257 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CAATAATTATCATCAAAGCCC 0.488000 47 11 0 0 0.000978159 0 0 PCLO 27445 broad.mit.edu 37 7 82474693 82474693 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:82474693C>T uc003uhx.2 - 12 14229 c.13940G>A c.(13939-13941)gGa>gAa p.G4647E PCLO_uc003uhv.2_Missense_Mutation_p.G4647E|PCLO_uc003uht.1_Missense_Mutation_p.G98E|PCLO_uc003uhu.1_Missense_Mutation_p.G77E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4535 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 AACATGAGATCCTTTTTCAAC 0.532000 22 6 0 0 0.00116845 0 0 ENPEP 2028 broad.mit.edu 37 4 111397993 111397993 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:111397993C>T uc003iab.4 + 0 765 c.423C>T c.(421-423)atC>atT p.I141I NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 141 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AGACCAGGATCACCCGGCTCC 0.637000 136 16 0 0 0.000566183 0 0 MYH2 4620 broad.mit.edu 37 17 10433391 10433391 + Splice_Site SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10433391C>T uc010coi.3 - 23 2826 c.2698_splice c.e23-1 p.E900_splice AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Splice_Site_p.E900_splice|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 900 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CCTTCGGCTTCCTTAAGTTGG 0.388000 121 7 0 0 0.000274275 0 0 KIF20B 9585 broad.mit.edu 37 10 91498211 91498211 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:91498211C>T uc001kgs.1 + 19 3685 c.3613C>T c.(3613-3615)Caa>Taa p.Q1205* KIF20B_uc001kgr.1_Nonsense_Mutation_p.Q1165*|KIF20B_uc001kgt.1_Nonsense_Mutation_p.Q416*|KIF20B_uc009xtw.1_Non-coding_Transcript NM_016195 NP_057279 Q96Q89 KI20B_HUMAN Homo sapiens kinesin family member 20B (KIF20B), mRNA. 1205 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|WW domain binding|microtubule motor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 GAAGGAATTTCAAGAACATCT 0.318000 58 17 0 0 0.00400662 0 0 AGRN 375790 broad.mit.edu 37 1 985855 985856 + Missense_Mutation DNP CC TT TT rs147990356 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:985855_985856CC>TT uc001ack.2 + 28 5075_5076 c.5025_5026CC>TT c.(5023-5028)ggcctc>ggTTtc p.L1676F NM_198576 NP_940978 O00468 AGRIN_HUMAN Homo sapiens agrin (AGRN), mRNA. 1676 Laminin G-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GCCCCAGCGGCCTCCTGCTCTA 0.673000 30 8 0 0 6.4e-05 0 0 ZNF184 7738 broad.mit.edu 37 6 27420976 27420976 + Missense_Mutation SNP A G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:27420976A>G uc003njj.3 - 4 1173 c.362T>C c.(361-363)cTa>cCa p.L121P ZNF184_uc010jqv.3_Missense_Mutation_p.L121P|ZNF184_uc003nji.3_Missense_Mutation_p.L121P NM_007149 NP_009080 Q99676 ZN184_HUMAN Homo sapiens zinc finger protein 184 (ZNF184), mRNA. 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 CTCTGGAGATAGCTCTTCTTC 0.403000 93 5 0 0 0.000602214 0 0 TLL2 7093 broad.mit.edu 37 10 98170121 98170121 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:98170121C>T uc001kml.2 - 8 1400 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K TLL2_uc009xvf.2_Missense_Mutation_p.E365K NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 387 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCTACCTTTTCCCCTGGGGTG 0.522000 35 8 0 0 0.000978159 0 0 IZUMO1 284359 broad.mit.edu 37 19 49248480 49248480 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:49248480C>T uc002pkj.3 - 2 849 c.301G>A c.(301-303)Gat>Aat p.D101N IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript NM_182575 NP_872381 Q8IYV9 IZUM1_HUMAN Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA. 101 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CCTTTTACATCACTGTCTGTG 0.502000 84 10 0 0 0.00136819 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215793 20215793 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:20215793C>T uc010tkt.2 + 0 207 c.207C>T c.(205-207)ttC>ttT p.F69F NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCTCTCTTTCATTGACCTAT 0.458000 108 14 0 0 0.00185496 0 0 GRHL2 79977 broad.mit.edu 37 8 102570758 102570758 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:102570758G>A uc010mbu.3 + 3 726 c.396G>A c.(394-396)gaG>gaA p.E132E GRHL2_uc011lhi.1_Silent_p.E132E NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA. 132 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ATCACCTGGAGAATTCCAAGC 0.507000 125 12 0 0 0.00185496 0 0 TFAP2B 7021 broad.mit.edu 37 6 50803973 50803973 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:50803973C>T uc003pag.3 + 3 967 c.801C>T c.(799-801)ctC>ctT p.L267L NM_003221 NP_003212 Q92481 AP2B_HUMAN Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA. 267 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) ATGCATCTCTCCTCGGCGGAG 0.458000 43 7 0 0 0.000442599 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269298 150269298 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:150269298G>A uc003whl.3 + 2 222 c.140G>A c.(139-141)gGa>gAa p.G47E GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Missense_Mutation_p.G61E NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 47 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTGCAACAGGAAACAGCATC 0.463000 52 7 0 0 0.00198382 0 0 GLG1 2734 broad.mit.edu 37 16 74542786 74542786 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:74542786G>A uc002fcx.3 - 2 559 c.509C>T c.(508-510)cCc>cTc p.P170L GLG1_uc002fcw.4_Missense_Mutation_p.P159L|GLG1_uc002fcy.4_Missense_Mutation_p.P170L|GLG1_uc002fcz.4_5'UTR NM_012201 NP_036333 Q92896 GSLG1_HUMAN Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA. 170 Golgi membrane|integral to membrane receptor binding p.P170P(1) breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 TTCAAATTTGGGATCTGTAGT 0.333000 97 9 0 0 0.000442599 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140236523 140236523 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140236523G>A uc003lhx.2 + 0 890 c.890G>A c.(889-891)aGg>aAg p.R297K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.R297K|PCDHAC2_uc011dad.2_Missense_Mutation_p.R297K NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 313 Cadherin 3. 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) ATAAACGAAAGGACGGGAGAA 0.368000 49 12 0 0 0.00185496 0 0 NLRC5 84166 broad.mit.edu 37 16 57113007 57113007 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:57113007C>T uc021tiu.1 + 42 5254 c.5127C>T c.(5125-5127)gcC>gcT p.A1709A NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Silent_p.A251A|NLRC5_uc002ekr.1_Silent_p.A596A NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 1709 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGAGCCTGGCCCAGGCCCTGG 0.657000 114 10 0 0 0.00185496 0 0 TRPM3 80036 broad.mit.edu 37 9 73477836 73477836 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:73477836G>A uc004aid.3 - 2 694 c.450C>T c.(448-450)tcC>tcT p.S150S TRPM3_uc004ahw.3_5'UTR|TRPM3_uc004ahx.3_5'UTR|TRPM3_uc004ahy.3_5'UTR|TRPM3_uc004ahz.3_5'UTR|TRPM3_uc004aia.3_5'UTR|TRPM3_uc004aib.3_5'UTR|TRPM3_uc004aic.3_Silent_p.S150S|TRPM3_uc010mor.3_Silent_p.S150S|TRPM3_uc004aie.3_5'UTR|TRPM3_uc004aif.3_5'UTR|TRPM3_uc004aig.3_5'UTR|TRPM3_uc004aii.3_Silent_p.S152S NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 150 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGGCTTTGTTGGAATGGCCAC 0.458000 61 13 0 0 0.00400662 0 0 RNF207 388591 broad.mit.edu 37 1 6279316 6279316 + Missense_Mutation SNP C A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:6279316C>A uc001amg.3 + 17 1928 c.1754C>A c.(1753-1755)cCg>cAg p.P585Q NM_207396 NP_997279 Q6ZRF8 RN207_HUMAN Homo sapiens ring finger protein 207 (RNF207), mRNA. 585 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GGAAGTGTCCCGGAAAAGAGA 0.502000 101 8 0.00307968 0.00895213 0.00307968 1 0 PROM1 8842 broad.mit.edu 37 4 15987392 15987392 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:15987392G>A uc003goo.2 - 20 2483 c.2271C>T c.(2269-2271)atC>atT p.I757I PROM1_uc003gor.2_Silent_p.I757I|PROM1_uc003gos.2_Silent_p.I748I|PROM1_uc003got.2_Silent_p.I757I|PROM1_uc003gou.2_Silent_p.I748I|PROM1_uc003gop.2_Silent_p.I748I|PROM1_uc003goq.3_Silent_p.I748I NM_006017 NP_006008 O43490 PROM1_HUMAN Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA. 757 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding p.E757Q(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 CAGAGAACTCGATCCACTGCA 0.323000 21 4 0 0 0.000602214 0 0 OR2T4 127074 broad.mit.edu 37 1 248525317 248525317 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248525317C>T uc001ieh.1 + 0 435 c.435C>T c.(433-435)ttC>ttT p.F145F NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 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) CAGAATTTTTCCTTCTAGCCA 0.517000 113 23 0 0 0.00278032 0 0 CACNA1C 775 broad.mit.edu 37 12 2764372 2764372 + Missense_Mutation SNP G C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:2764372G>C uc009zdu.1 + 35 4657 c.4344G>C c.(4342-4344)caG>caC p.Q1448H CACNA1C_uc001qkc.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qjz.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkd.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qke.2_Missense_Mutation_p.Q1389H|CACNA1C_uc001qkf.2_Missense_Mutation_p.Q1389H|CACNA1C_uc009zdw.1_Missense_Mutation_p.Q1422H|CACNA1C_uc001qkg.2_Missense_Mutation_p.Q1387H|CACNA1C_uc001qkh.2_Missense_Mutation_p.Q1389H|CACNA1C_uc001qkl.2_Missense_Mutation_p.Q1448H|CACNA1C_uc001qkj.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkk.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkn.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkm.2_Missense_Mutation_p.Q1389H|CACNA1C_uc001qko.2_Missense_Mutation_p.Q1420H|CACNA1C_uc001qkp.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkq.2_Missense_Mutation_p.Q1428H|CACNA1C_uc001qku.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkr.2_Missense_Mutation_p.Q1417H|CACNA1C_uc001qks.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkt.2_Missense_Mutation_p.Q1400H|CACNA1C_uc009zdv.1_Missense_Mutation_p.Q1397H|CACNA1C_uc001qkb.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qki.1_Missense_Mutation_p.Q1136H|CACNA1C_uc010sea.1_Missense_Mutation_p.Q91H NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 1448 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) ACAACTTTCAGACCTTCCCCC 0.522000 18 4 0 0 0.00024832 0 0 LMO7 4008 broad.mit.edu 37 13 76393596 76393596 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:76393596G>A uc021rkq.1 + 12 2467 c.2132G>A c.(2131-2133)aGa>aAa p.R711K LMO7_uc010thv.2_Missense_Mutation_p.R429K|LMO7_uc001vjt.1_Missense_Mutation_p.R377K|LMO7_uc001vjv.3_Missense_Mutation_p.R478K|LMO7_uc010thw.2_Missense_Mutation_p.R328K|LMO7_uc001vjw.1_Missense_Mutation_p.R384K NM_005358 NP_005349 Q8WWI1 LMO7_HUMAN Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA. 763 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AAAGAAGAGAGAGAAGAAATT 0.423000 70 9 0 0 0.000274275 0 0 NLRP13 126204 broad.mit.edu 37 19 56424097 56424097 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:56424097C>T uc010ygg.2 - 4 1111 c.1086G>A c.(1084-1086)acG>acA p.T362T NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 362 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) AGGTCTTGATCGTGATCAGTA 0.468000 82 13 0 0 0.00136819 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161029468 161029468 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:161029468C>T uc001fxl.3 - 1 482 c.136G>A c.(136-138)Gag>Aag p.E46K ARHGAP30_uc001fxk.3_Missense_Mutation_p.E46K|ARHGAP30_uc001fxm.3_5'UTR|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_5'UTR NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 46 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ACTCCATACTCCTCCACAAAT 0.557000 100 16 0 0 0.00400662 0 0 LGI1 9211 broad.mit.edu 37 10 95553074 95553074 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:95553074G>A uc001kjc.4 + 6 1141 c.805G>A c.(805-807)Gaa>Aaa p.E269K LGI1_uc021pwk.1_Missense_Mutation_p.E269K|LGI1_uc010qnv.2_Missense_Mutation_p.E221K|LGI1_uc009xui.3_Non-coding_Transcript NM_005097 NP_005088 O95970 LGI1_HUMAN Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA. 269 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) GGACCATGTGGAAAAGACCTT 0.373000 95 15 0 0 0.00152264 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958895 50958895 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:50958895G>A uc002psf.2 + 19 2383 c.2332G>A c.(2332-2334)Gaa>Aaa p.E778K NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 778 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GTACTGCCTGGAAGGCTGTGA 0.597000 39 4 0 0 0.00024832 0 0 COL9A2 1298 broad.mit.edu 37 1 40775782 40775782 + Splice_Site SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:40775782C>T uc001cfh.1 - 15 904 c.792_splice c.e15+1 p.P264_splice COL9A2_uc001cfi.1_Splice_Site_p.P83_splice NM_001852 NP_001843 Q14055 CO9A2_HUMAN Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA. 264 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 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;2.08e-17) AAGAGGCTTACCGGTGGCCCA 0.607000 102 16 0 0 0.00121646 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166281 19166281 + Missense_Mutation SNP T A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:19166281T>A uc001bba.1 - 5 2333 c.2332A>T c.(2332-2334)Acc>Tcc p.T778S NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA. 778 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GACATGAAGGTGCAGAGGGAG 0.572000 32 15 0 0 0.00244969 0 0 MUC16 94025 broad.mit.edu 37 19 9066519 9066519 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9066519G>A uc002mkp.3 - 2 21131 c.20927C>T c.(20926-20928)cCc>cTc p.P6976L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6978 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 AGTACCAGTGGGGACTTCTGA 0.483000 108 26 0 0 0.00395357 0 0 CCDC63 160762 broad.mit.edu 37 12 111330918 111330918 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:111330918C>T uc001trv.1 + 8 1308 c.1113C>T c.(1111-1113)tcC>tcT p.S371S CCDC63_uc010sye.1_Silent_p.S331S|CCDC63_uc001trw.1_Silent_p.S286S NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 371 p.L370F(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 AGAAATTGTCCCACGATGACA 0.562000 99 11 0 0 0.00244969 0 0 PSG4 5672 broad.mit.edu 37 19 43699348 43699348 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43699348C>T uc002ovy.3 - 3 889 c.787G>A c.(787-789)Gaa>Aaa p.E263K PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.E170K NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 263 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CTCTTAGGTTCACAGGTGAAG 0.453000 268 28 0 0 0.00209593 0 0 OR4N5 390437 broad.mit.edu 37 14 20612172 20612172 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:20612172C>T uc010tla.2 + 0 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) AAGGTAATCTCCTATAGAAGC 0.478000 118 11 0 0 0.000978159 0 0 PDE1B 5153 broad.mit.edu 37 12 54969376 54969376 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:54969376C>T uc001sgd.2 + 11 1620 c.1227C>T c.(1225-1227)ctC>ctT p.L409L PDE1B_uc010soz.2_Silent_p.L272L|PDE1B_uc010spa.1_Silent_p.L368L|PDE1B_uc001sge.3_Silent_p.L389L|PDE1B_uc001sgf.3_Silent_p.L272L|PDE1B_uc009znq.3_Silent_p.L205L NM_000924 NP_000915 Q01064 PDE1B_HUMAN Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA. 409 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TTTCTCCACTCTGTGACCGCA 0.572000 107 14 0 0 0.00074312 0 0 SYTL2 54843 broad.mit.edu 37 11 85445395 85445395 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:85445395G>A uc010rth.2 - 5 1363 c.974C>T c.(973-975)tCc>tTc p.S325F SYTL2_uc010rtg.2_Missense_Mutation_p.S326F|SYTL2_uc010rti.2_Missense_Mutation_p.S325F|SYTL2_uc010rtj.2_Missense_Mutation_p.S277F|SYTL2_uc001pbf.4_Missense_Mutation_p.S325F|SYTL2_uc010rtf.2_Missense_Mutation_p.S183F NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA. 325 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding p.S326F(1) 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) TGGCTCCAGGGAGTTTGGGGA 0.448000 120 14 0 0 0.00316338 0 0 LRRC10 376132 broad.mit.edu 37 12 70004285 70004285 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:70004285C>T uc001svc.3 - 0 658 c.334G>A c.(334-336)Gac>Aac p.D112N NM_201550 NP_963844 Q5BKY1 LRC10_HUMAN Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA. 112 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CTGGGGAGGTCGCAGAGTTTG 0.572000 78 11 0 0 0.000978159 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150439761 150439761 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:150439761G>A uc022apw.1 + 5 1286 c.1146G>A c.(1144-1146)cgG>cgA p.R382R GIMAP1-GIMAP5_uc003whr.2_Silent_p.R178R NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. ACCTGGTGCGGGAGTGTGAGA 0.572000 129 10 0 0 0.00185496 0 0 USH2A 7399 broad.mit.edu 37 1 215848644 215848644 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:215848644C>T uc001hku.1 - 62 12996 c.12609G>A c.(12607-12609)caG>caA p.Q4203Q NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4203 Fibronectin type-III 27. 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) CCTGGATTGTCTGATTTCCCC 0.423000 HNSCC(13;0.011) 139 20 0 0 0.00152264 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71491667 71491667 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:71491667G>A uc004agu.3 + 5 580 c.275G>A c.(274-276)cGa>cAa p.R92Q PIP5K1B_uc011lrq.2_Missense_Mutation_p.R92Q|PIP5K1B_uc004agv.3_Non-coding_Transcript NM_003558 NP_003549 O14986 PI51B_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA. 92 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) TTAGCATTCCGATATTTCAGA 0.373000 62 10 0 0 0.000442599 0 0 RASGRF1 5923 broad.mit.edu 37 15 79317774 79317774 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:79317774G>A uc002beq.3 - 9 1799 c.1424C>T c.(1423-1425)aCc>aTc p.T475I RASGRF1_uc002bep.3_Missense_Mutation_p.T475I|RASGRF1_uc010blm.1_Missense_Mutation_p.T397I|RASGRF1_uc002ber.4_Missense_Mutation_p.T475I NM_002891 NP_002882 Q13972 RGRF1_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA. 475 PH 2. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCGCCCCCTGGTGATCTTGCC 0.567000 92 11 0 0 0.000978159 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 222808 222808 + RNA SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrGL000192.1:222808G>A uc010yij.1 - 17 c.3115C>T NM_017558 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA. 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) ACCTGCTTCGGAGTGGGGCTC 0.428000 23 7 0 0 0.00198382 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564786 47564786 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:47564786C>T uc001cqu.1 + 7 900 c.897C>T c.(895-897)ttC>ttT p.F299F NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA. 299 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CCAAAGATTTCTCTGAAGCAG 0.388000 81 20 0 0 0.00278032 0 0 ZNF668 79759 broad.mit.edu 37 16 31073072 31073072 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:31073072G>A uc021tgt.1 - 3 1602 c.1246C>T c.(1246-1248)Cac>Tac p.H416Y ZNF668_uc010cag.2_Missense_Mutation_p.H393Y|ZNF668_uc010caf.3_Missense_Mutation_p.H393Y|ZNF668_uc002eao.3_Missense_Mutation_p.H393Y NM_001172669 NP_078982 Q96K58 ZN668_HUMAN Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA. 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCGTTACAGTGGAAGGGGCGC 0.667000 199 20 0 0 0.00278032 0 0 XKR4 114786 broad.mit.edu 37 8 56436647 56436647 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:56436647C>T uc003xsf.3 + 2 1846 c.1814C>T c.(1813-1815)cCa>cTa p.P605L NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 605 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) AATAGGTACCCAGCATGGGAG 0.488000 73 7 0 0 0.00198382 0 0 HHIPL2 79802 broad.mit.edu 37 1 222716994 222716994 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:222716994G>A uc001hnh.1 - 1 917 c.859C>T c.(859-861)Cgc>Tgc p.R287C NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 287 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding p.R287C(2)|p.R287L(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TAGAACTTGCGATTGTGGCGG 0.473000 659 99 0 0 0.00361006 0 0 HHIPL2 79802 broad.mit.edu 37 1 222716972 222716972 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:222716972G>A uc001hnh.1 - 1 939 c.881C>T c.(880-882)tCg>tTg p.S294L NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 294 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GTCCAGGCACGAATAATAAAT 0.468000 699 113 0 0 0.00361006 0 0 DNAH8 1769 broad.mit.edu 37 6 38950197 38950197 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:38950197C>T uc021yzh.1 + 85 13019 c.12910C>T c.(12910-12912)Cag>Tag p.Q4304* DNAH8_uc003ooe.2_Nonsense_Mutation_p.Q4087*|DNAH8_uc003oog.1_Nonsense_Mutation_p.Q536* NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGCCAGTGTTCAGTTTATTCA 0.363000 93 11 0 0 0.000978159 0 0 XIRP1 165904 broad.mit.edu 37 3 39226215 39226215 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:39226215G>A uc003cjk.2 - 1 4951 c.4722C>T c.(4720-4722)ttC>ttT p.F1574F XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Silent_p.F257F|XIRP1_uc021wvz.1_Silent_p.F1574F NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1574 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GAGGTCCCTGGAAATGGCCTC 0.587000 174 19 0 0 0.00074312 0 0 BICD1 636 broad.mit.edu 37 12 32481285 32481285 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:32481285C>T uc001rku.3 + 4 1977 c.1896C>T c.(1894-1896)atC>atT p.I632I BICD1_uc001rkv.3_Silent_p.I632I|BICD1_uc010skd.2_Non-coding_Transcript NM_001714 NP_001705 Q96G01 BICD1_HUMAN Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA. 632 RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) ATGCCATAATCCGGGACCAAA 0.488000 120 22 0 0 0.00229938 0 0 PTEN 5728 broad.mit.edu 37 10 89692829 89692829 + Missense_Mutation SNP T G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:89692829T>G uc001kfb.3 + 4 1345 c.313T>G c.(313-315)Tgt>Ggt p.C105G PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 105 Phosphatase tensin-type. C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS). T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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 PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105W(4)|p.C105fs*2(3)|p.C105S(3)|p.Y27fs*1(2)|p.C105G(2)|p.C105Y(2)|p.C105R(2)|p.Y27_N212>Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(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) CAAACCCTTTTGTGAAGATCT 0.378000 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) 56 11 0 0 0.00185496 0 0 CRIM1 51232 broad.mit.edu 37 2 36744661 36744661 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:36744661G>A uc002rpd.3 + 11 2248 c.2182G>A c.(2182-2184)Gat>Aat p.D728N NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA. 728 VWFC 4. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) ACGCACCCAGGATTCCTGCTG 0.602000 54 5 0 0 0.00307968 0 0 ZNF461 92283 broad.mit.edu 37 19 37129927 37129927 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:37129927G>A uc002oem.3 - 5 1548 c.1320C>T c.(1318-1320)ccC>ccT p.P440P ZNF461_uc002oen.3_Silent_p.P409P|ZNF461_uc010xtj.2_Silent_p.P417P NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN Homo sapiens zinc finger protein 461 (ZNF461), mRNA. 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TACACTCATAGGGTTTCTCAC 0.398000 54 6 0 0 0.00307968 0 0 MAN1A1 4121 broad.mit.edu 37 6 119525929 119525929 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:119525929C>T uc003pym.1 - 6 1553 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K NM_005907 NP_005898 P33908 MA1A1_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA. 371 post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) CTCACCTTTTCAGCAAAGATG 0.443000 127 14 0 0 0.000566183 0 0 CSTF2 1478 broad.mit.edu 37 X 100077326 100077327 + Missense_Mutation DNP GG AA AA TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:100077326_100077327GG>AA uc004egh.3 + 2 282_283 c.224_225GG>AA c.(223-225)cgg>cAA p.R75Q CSTF2_uc010nnd.3_Missense_Mutation_p.R75Q|CSTF2_uc004egi.3_Missense_Mutation_p.R75Q NM_001325 NP_001316 P33240 CSTF2_HUMAN Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA. 75 RRM. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex RNA binding|nucleotide binding|protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 AGTGCCATGCGGAACCTGAATG 0.475000 35 17 0 0 6.4e-05 0 0 CPA5 93979 broad.mit.edu 37 7 130002292 130002292 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:130002292G>A uc010lmd.1 + 8 1168 c.548G>A c.(547-549)gGt>gAt p.G183D CPA5_uc003vps.2_Missense_Mutation_p.G183D|CPA5_uc003vpt.2_Missense_Mutation_p.G183D|CPA5_uc010lme.1_Missense_Mutation_p.G183D|CPA5_uc003vpu.1_Missense_Mutation_p.G183D NM_001127441 NP_525124 Q8WXQ8 CBPA5_HUMAN Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA. 183 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding p.G182R(1) NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) AGCACTGGAGGTTCTCGGCAC 0.557000 46 6 0 0 0.00307968 0 0 C10orf68 79741 broad.mit.edu 37 10 33134500 33134500 + Missense_Mutation SNP A G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:33134500A>G uc001iwm.1 + 13 1443 c.1207A>G c.(1207-1209)Act>Gct p.T403A C10orf68_uc001iwl.1_Missense_Mutation_p.T358A|C10orf68_uc001iwn.4_Missense_Mutation_p.T399A|C10orf68_uc010qei.1_Missense_Mutation_p.T375A|C10orf68_uc001iwo.4_Non-coding_Transcript NM_024688 NP_078964 Q9H943 CJ068_HUMAN Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA. 399 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 TGCCTATGCTACTGGAAGAGG 0.308000 97 11 0 0 0.000978159 0 0 C20orf111 51526 broad.mit.edu 37 20 42825852 42825852 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:42825852G>A uc002xlk.3 - 3 971 c.719C>T c.(718-720)tCg>tTg p.S240L NM_016470 NP_057554 Q9NX31 CT111_HUMAN Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA. 240 breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 14 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) GGCGTGCAGCGACTGAGAGTA 0.527000 74 6 0 0 0.00116845 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558632 129558632 + Nonsense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:129558632G>A uc009zyl.1 - 8 3416 c.3088C>T c.(3088-3090)Cag>Tag p.Q1030* TMEM132D_uc001uia.2_Nonsense_Mutation_p.Q568* NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 1030 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCACTTTTCTGATCTTTCCCA 0.468000 76 6 0 0 0.00198382 0 0 ERI3 79033 broad.mit.edu 37 1 44820606 44820606 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:44820606G>A uc001clt.3 - 0 334 c.93C>T c.(91-93)ctC>ctT p.L31L ERI3_uc010okv.2_5'Flank|ERI3_uc010okw.2_5'UTR NM_024066 NP_076971 O43414 ERI3_HUMAN Homo sapiens ERI1 exoribonuclease family member 3 (ERI3), mRNA. 31 intracellular exonuclease activity|metal ion binding|nucleic acid binding endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AAGTCCAGGGGAGAGTAAGGG 0.701000 23 9 0 0 0.000673444 0 0 NCOA6 23054 broad.mit.edu 37 20 33330467 33330467 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:33330467G>A uc002xav.3 - 11 6164 c.3593C>T c.(3592-3594)cCa>cTa p.P1198L NCOA6_uc002xaw.3_Missense_Mutation_p.P1198L|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P1198L|NCOA6_uc021wcf.1_Intron NM_014071 NP_054790 Q14686 NCOA6_HUMAN Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA. 1198 NCOA1-binding region. DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 AGCCACATTTGGGAAGTGGTG 0.587000 142 17 0 0 0.000566183 0 0 YLPM1 56252 broad.mit.edu 37 14 75248574 75248574 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:75248574C>T uc001xqj.4 + 3 1952 c.1828C>T c.(1828-1830)Ctc>Ttc p.L610F YLPM1_uc001xql.4_Non-coding_Transcript NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCCACCATCTCTCTCTTCAAC 0.587000 68 13 0 0 0.00136819 0 0 TPO 7173 broad.mit.edu 37 2 1480956 1480956 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:1480956G>A uc002qwr.3 + 7 1004 c.918G>A c.(916-918)ggG>ggA p.G306G TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.G306G|TPO_uc002qwx.3_Silent_p.G306G|TPO_uc002qwu.3_Silent_p.G306G|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.G306G NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 306 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGCTCTTTGGGAACCTGTCCA 0.711000 22 4 0 0 0.00024832 0 0 MDC1 9656 broad.mit.edu 37 6 30670353 30670353 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:30670353G>A uc003nrg.4 - 13 6519 c.6079C>T c.(6079-6081)Ccc>Tcc p.P2027S MDC1_uc003nrf.4_Missense_Mutation_p.P658S NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 2027 BRCT 2.|Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GGCATGCTGGGTAGGTATGTG 0.517000 Other conserved DNA damage response genes 89 12 0 0 0.00244969 0 0 ITIH5 80760 broad.mit.edu 37 10 7679332 7679332 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:7679332C>T uc021pmv.1 - 4 617 c.511G>A c.(511-513)Gag>Aag p.E171K ITIH5_uc001ijr.2_Missense_Mutation_p.E171K NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 171 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ATGCTGTGCTCGTACTTGCCC 0.592000 47 7 0 0 0.00307968 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15443927 15443927 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:15443927G>A uc003gno.3 + 2 654 c.395G>A c.(394-396)gGa>gAa p.G132E C1QTNF7_uc011bxb.2_Missense_Mutation_p.G125E|C1QTNF7_uc003gnp.3_Missense_Mutation_p.G125E NM_001135170 NP_114117 Q9BXJ2 C1QT7_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA. 125 Collagen-like. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 GGACCAAAGGGAGACAGAGGA 0.547000 128 9 0 0 0.000274275 0 0 WDR47 22911 broad.mit.edu 37 1 109556543 109556543 + Missense_Mutation SNP G A A rs140178030 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:109556543G>A uc001dwl.3 - 3 623 c.247C>T c.(247-249)Cgt>Tgt p.R83C WDR47_uc001dwi.3_Missense_Mutation_p.R83C|WDR47_uc001dwj.3_Missense_Mutation_p.R83C|WDR47_uc001dwk.2_Missense_Mutation_p.R55C|WDR47_uc010ovf.2_Missense_Mutation_p.R10C NM_001142550 NP_001136022 O94967 WDR47_HUMAN Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA. 83 CTLH. breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) ATAATATAACGAAACCTGTGG 0.323000 250 78 0 0 0.00361006 0 0 MPP7 143098 broad.mit.edu 37 10 28347533 28347533 + Splice_Site SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:28347533C>T uc001iua.1 - 17 1703 c.1299_splice c.e17-1 p.K433_splice MPP7_uc009xkz.1_Splice_Site|MPP7_uc001iub.1_Splice_Site_p.K433_splice|MPP7_uc009xla.2_Splice_Site_p.K433_splice|MPP7_uc010qdv.1_Splice_Site NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 433 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TTCAATAAACCTGTAAAAAAT 0.313000 113 14 0 0 0.00185496 0 0 LAMA2 3908 broad.mit.edu 37 6 129835527 129835527 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:129835527C>T uc021zfb.1 + 63 9103 c.8998C>T c.(8998-9000)Cat>Tat p.H3000Y LAMA2_uc003qbn.3_Missense_Mutation_p.H2998Y|LAMA2_uc003qbo.3_Missense_Mutation_p.H2994Y|BC035400_uc003qbq.3_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 3000 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GTTGATGTTTCATGTGGACAA 0.423000 36 5 0 0 0.000602214 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77317856 77317856 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:77317856G>A uc002ffc.4 - 22 4082 c.3663C>T c.(3661-3663)atC>atT p.I1221I NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 1221 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ACCAAGATCAGATCTTCCTTG 0.512000 55 7 0 0 0.00198382 0 0 ASTN1 460 broad.mit.edu 37 1 176983952 176983952 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:176983952G>A uc001glc.3 - 7 1710 c.1498C>T c.(1498-1500)Cgg>Tgg p.R500W ASTN1_uc001glb.1_Missense_Mutation_p.R500W|ASTN1_uc001gld.1_Missense_Mutation_p.R500W|ASTN1_uc009wwx.1_Missense_Mutation_p.R500W|ASTN1_uc001gle.4_Non-coding_Transcript NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 508 EGF-like 1. cell migration|neuron cell-cell adhesion integral to membrane p.R500R(1)|p.R500L(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CATTCGTTCCGAATGCAAAGG 0.493000 254 102 0 0 0.00361006 0 0 DNAH9 1770 broad.mit.edu 37 17 11539967 11539967 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:11539967G>A uc002gne.3 + 8 1720 c.1652G>A c.(1651-1653)gGa>gAa p.G551E NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 551 Stem (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) GACATAGCAGGAAACCTCCTT 0.428000 71 6 0 0 0.00307968 0 0 TNFSF15 9966 broad.mit.edu 37 9 117553074 117553074 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:117553074G>A uc004bjh.3 - 3 530 c.414C>T c.(412-414)ttC>ttT p.F138F TNFSF15_uc004bjg.3_Silent_p.F79F NM_005118 NP_005109 O95150 TNF15_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA. 138 activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 GGATCAGCAGGAATTTGTTGG 0.498000 75 14 0 0 0.00316338 0 0 ZUFSP 221302 broad.mit.edu 37 6 116988271 116988271 + Missense_Mutation SNP T A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:116988271T>A uc003pxf.2 - 1 345 c.85A>T c.(85-87)Att>Ttt p.I29F ZUFSP_uc010kef.2_Intron NM_145062 NP_659499 Q96AP4 ZUFSP_HUMAN Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA. 29 intracellular zinc ion binding NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) GGACATATAATTTCACTTTCC 0.353000 93 19 0 0 0.00074312 0 0 NLRP2 55655 broad.mit.edu 37 19 55493973 55493973 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:55493973G>A uc021vbq.1 + 5 1018 c.907G>A c.(907-909)Gac>Aac p.D303N NLRP2_uc010yfp.2_Missense_Mutation_p.D280N|NLRP2_uc002qij.3_Missense_Mutation_p.D303N|NLRP2_uc010esp.3_Missense_Mutation_p.D281N|NLRP2_uc010esn.3_Missense_Mutation_p.D279N|NLRP2_uc010eso.3_Missense_Mutation_p.D300N NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 303 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GCTGATCGAGGACATCTGCGG 0.592000 70 10 0 0 0.000978159 0 0 RXFP1 59350 broad.mit.edu 37 4 159568246 159568246 + Missense_Mutation SNP A G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:159568246A>G uc003ipz.3 + 15 1912 c.1649A>G c.(1648-1650)aAg>aGg p.K550R RXFP1_uc010iqk.3_Missense_Mutation_p.K418R|RXFP1_uc011cja.2_Missense_Mutation_p.K445R|RXFP1_uc010iqo.3_Missense_Mutation_p.K502R|RXFP1_uc011cjb.2_Missense_Mutation_p.K448R|RXFP1_uc011cjc.2_Missense_Mutation_p.K469R|RXFP1_uc011cjd.2_Missense_Mutation_p.K469R|RXFP1_uc010iql.3_Missense_Mutation_p.K394R|RXFP1_uc011cje.2_Missense_Mutation_p.K577R|RXFP1_uc010iqm.3_Missense_Mutation_p.K517R|RXFP1_uc011cjf.2_Missense_Mutation_p.K419R|RXFP1_uc010iqn.3_Missense_Mutation_p.K495R NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 550 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) TTGAGCAATAAGGAATTTTTC 0.368000 52 8 0 0 0.000274275 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3683950 3683950 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:3683950G>A uc002wja.3 - 4 1122 c.1122C>T c.(1120-1122)acC>acT p.T374T SIGLEC1_uc002wiz.4_Silent_p.T374T|SIGLEC1_uc002wjc.3_Silent_p.T285T NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 374 Ig-like C2-type 3. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCAGCCGGAGGGTATGGGAGT 0.587000 69 8 0 0 0.000274275 0 0 MXRA5 25878 broad.mit.edu 37 X 3242165 3242165 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:3242165G>A uc004crg.4 - 4 1718 c.1561C>T c.(1561-1563)Ctg>Ttg p.L521L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 521 Ig-like C2-type 1. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGCGCTTTCAGGATGGAGCCA 0.537000 33 21 0 0 0.00152264 0 0 PTPRE 5791 broad.mit.edu 37 10 129871687 129871687 + Nonsense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:129871687G>A uc009yat.3 + 17 2001 c.1584G>A c.(1582-1584)tgG>tgA p.W528* PTPRE_uc001lkb.3_Nonsense_Mutation_p.W517*|PTPRE_uc009yau.2_Nonsense_Mutation_p.W517*|PTPRE_uc001lkd.3_Nonsense_Mutation_p.W459*|PTPRE_uc010quq.1_Nonsense_Mutation_p.W418* NM_006504 NP_006495 P23469 PTPRE_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA. 517 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) TCTGGGAATGGAAATCCCACA 0.602000 52 12 0 0 0.000978159 0 0 LNX1 84708 broad.mit.edu 37 4 54374236 54374236 + Missense_Mutation SNP T G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:54374236T>G uc003hag.4 - 2 795 c.539A>C c.(538-540)gAc>gCc p.D180A PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D84A|LNX1_uc003hah.4_Intron NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA. 180 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) GGCAGGGTTGTCTAGGCCAGG 0.627000 33 6 0 0 0.00198382 0 0 STK36 27148 broad.mit.edu 37 2 219563577 219563577 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:219563577C>T uc002viu.3 + 25 3589 c.3310C>T c.(3310-3312)Ctg>Ttg p.L1104L STK36_uc002viv.3_Silent_p.L1083L|STK36_uc002vix.3_Silent_p.L149L NM_015690 NP_056505 Q9NRP7 STK36_HUMAN Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA. 1104 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) CCAAGAGCTTCTGGCTGGCTC 0.587000 67 10 0 0 0.000673444 0 0 PMS1 5378 broad.mit.edu 37 2 190742046 190742046 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:190742046G>A uc002urh.4 + 12 3212 c.2683G>A c.(2683-2685)Gag>Aag p.E895K PMS1_uc002urk.4_Missense_Mutation_p.E856K|PMS1_uc002uri.4_Missense_Mutation_p.E733K|PMS1_uc010zgc.2_Missense_Mutation_p.E719K|PMS1_uc010zgd.2_Missense_Mutation_p.E719K|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010frz.3_Missense_Mutation_p.E211K|PMS1_uc002url.3_Missense_Mutation_p.E518K|PMS1_uc002urm.3_Non-coding_Transcript NM_000534 NP_000525 P54277 PMS1_HUMAN Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA. 895 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) CTTATCAAAAGAGGACATCCA 0.388000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 50 6 0 0 0.00198382 0 0 OR8B3 390271 broad.mit.edu 37 11 124266939 124266939 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:124266939G>A uc010saj.2 - 0 309 c.309C>T c.(307-309)ttC>ttT p.F103F OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA. 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AAAAGAGAAAGAAAAACAGCT 0.373000 23 5 0 0 0.00198382 0 0 ZIM3 114026 broad.mit.edu 37 19 57647152 57647152 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:57647152G>A uc002qnz.1 - 4 939 c.553C>T c.(553-555)Cac>Tac p.H185Y NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTCCTCAGGTGACTTTGAAGG 0.413000 154 22 0 0 0.00278032 0 0 ANKFN1 162282 broad.mit.edu 37 17 54431343 54431343 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:54431343C>T uc002iun.1 + 4 581 c.546C>T c.(544-546)atC>atT p.I182I NM_153228 NP_694960 Q8N957 ANKF1_HUMAN Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA. 182 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ATATTGCCATCATGACCAACA 0.468000 28 6 0 0 0.00198382 0 0 SLC30A3 7781 broad.mit.edu 37 2 27480115 27480115 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:27480115C>T uc002rjk.3 - 4 870 c.684G>A c.(682-684)ggG>ggA p.G228G SLC30A3_uc002rjj.3_Missense_Mutation_p.G74E|SLC30A3_uc010ylh.2_Silent_p.G223G NM_003459 NP_003450 Q99726 ZNT3_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA. 228 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) CGCTGGTGTTCCCCAGGGGCA 0.647000 23 7 0 0 0.00307968 0 0 TOMM40L 84134 broad.mit.edu 37 1 161197992 161197992 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:161197992C>T uc001fzd.3 + 6 730 c.501C>T c.(499-501)caC>caT p.H167H TOMM40L_uc010pkl.1_Silent_p.H133H|TOMM40L_uc009wue.3_Silent_p.H49H|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Silent_p.H167H NM_032174 NP_115550 Q969M1 TM40L_HUMAN Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA. 167 protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(2)|liver(4)|lung(4) 10 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGGTTGCTCACTTCCTGCAGA 0.577000 OREG0013943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 9 0 0 0.000673444 0 0 APCS 325 broad.mit.edu 37 1 159558147 159558147 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:159558147C>T uc001ftv.3 + 1 417 c.321C>T c.(319-321)ttC>ttT p.F107F NM_001639 NP_001630 P02743 SAMP_HUMAN Homo sapiens amyloid P component, serum (APCS), mRNA. 107 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding p.K106N(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TCGAAAAGTTCCCGGCTCCAG 0.433000 55 12 0 0 0.00244969 0 0 OR2M7 391196 broad.mit.edu 37 1 248487187 248487187 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248487187C>T uc010pzk.2 - 0 684 c.684G>A c.(682-684)atG>atA p.M228I NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA. 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 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) CTCCAGATCCCATGTGAATGA 0.438000 180 17 0 0 0.00400662 0 0 YEATS2 55689 broad.mit.edu 37 3 183521850 183521850 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:183521850C>T uc003fly.2 + 26 3853 c.3658C>T c.(3658-3660)Ccc>Tcc p.P1220S AX746590_uc003fma.1_3'UTR NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN Homo sapiens YEATS domain containing 2 (YEATS2), mRNA. 1220 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCACCTGACTCCCCTCAAAAC 0.488000 75 24 0 0 0.00332997 0 0 CACNA1S 779 broad.mit.edu 37 1 201009757 201009757 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:201009757G>A uc001gvv.3 - 41 5446 c.5219C>T c.(5218-5220)cCc>cTc p.P1740L NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 1740 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TACCTGGCAGGGGGCAGGAGG 0.612000 62 22 0 0 0.00278032 0 0 ANK2 287 broad.mit.edu 37 4 114257035 114257035 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:114257035G>A uc003ibe.4 + 29 3513 c.3413G>A c.(3412-3414)cGa>cAa p.R1138Q ANK2_uc003ibd.4_Missense_Mutation_p.R1129Q|ANK2_uc003ibf.4_Missense_Mutation_p.R1138Q|ANK2_uc011cgc.2_Missense_Mutation_p.R314Q|ANK2_uc003ibg.4_Missense_Mutation_p.R133Q|ANK2_uc003ibc.2_Missense_Mutation_p.R1114Q|ANK2_uc011cgb.1_Missense_Mutation_p.R1153Q NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 1105 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) GAAAAGAAACGAATCTGCCGC 0.458000 69 14 0 0 0.00244969 0 0 NYAP2 57624 broad.mit.edu 37 2 226273632 226273632 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:226273632G>A uc002voe.2 + 1 211 c.36G>A c.(34-36)gaG>gaA p.E12E NYAP2_uc010fxa.1_Silent_p.E7E NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 12 CTAATCCTGAGGAAGACCCTT 0.438000 63 6 0 0 0.00116845 0 0 ZNF649 65251 broad.mit.edu 37 19 52393992 52393992 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:52393992G>A uc002pxy.3 - 4 1723 c.1397C>T c.(1396-1398)cCt>cTt p.P466L ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.4_5'Flank|ZNF577_uc002pxv.3_5'Flank|ZNF577_uc002pxw.3_5'Flank|ZNF577_uc010yde.2_5'Flank|ZNF577_uc010ydf.1_Intron NM_023074 NP_075562 Q9BS31 ZN649_HUMAN Homo sapiens zinc finger protein 649 (ZNF649), mRNA. 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TGCTGTGGAAGGATTTTCCAC 0.448000 196 28 0 0 0.0024448 0 0 IMPG1 3617 broad.mit.edu 37 6 76660470 76660470 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:76660470G>A uc003pik.1 - 12 1763 c.1633C>T c.(1633-1635)Cat>Tat p.H545Y NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 545 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TCCAAGAAATGATCTGGGACA 0.488000 50 9 0 0 0.000673444 0 0 RLN3 117579 broad.mit.edu 37 19 14139177 14139177 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:14139177G>A uc002mxw.1 + 0 161 c.161G>A c.(160-162)cGa>cAa p.R54Q RLN3_uc010dzj.1_Missense_Mutation_p.R54Q NM_080864 NP_543140 Q8WXF3 REL3_HUMAN Homo sapiens relaxin 3 (RLN3), mRNA. 54 extracellular region hormone activity endometrium(1)|lung(4) 5 CGGTGGAGACGATCAGACATC 0.637000 68 10 0 0 0.000442599 0 0 CCDC105 126402 broad.mit.edu 37 19 15124559 15124559 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:15124559G>A uc002nae.2 + 1 745 c.646G>A c.(646-648)Gat>Aat p.D216N NM_173482 NP_775753 Q8IYK2 CC105_HUMAN Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA. 216 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 AATGGAGAGAGATATGGAAAA 0.502000 21 4 0 0 0.00116845 0 0 METTL21C 196541 broad.mit.edu 37 13 103346730 103346731 + Missense_Mutation DNP CC TT TT TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:103346730_103346731CC>TT uc001vpj.3 - 0 124_125 c.118_119GG>AA c.(118-120)gga>AAa p.G40K NM_001010977 NP_001010977 Q5VZV1 MT21C_HUMAN Homo sapiens methyltransferase like 21C (METTL21C), mRNA. 40 methyltransferase activity p.G39G(1) breast(1)|large_intestine(3)|lung(2)|skin(1) 7 TTCTAGGACTCCCCCGGTGCTG 0.550000 45 6 0 0 6.4e-05 0 0 HUWE1 10075 broad.mit.edu 37 X 53674318 53674318 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:53674318G>A uc004dsp.3 - 5 746 c.344C>T c.(343-345)tCc>tTc p.S115F NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 115 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TACCTCTATGGAACTGTACAG 0.428000 12 16 0 0 0.000566183 0 0 FAM5C 339479 broad.mit.edu 37 1 190234128 190234128 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:190234128C>T uc001gse.1 - 3 717 c.485G>A c.(484-486)gGa>gAa p.G162E FAM5C_uc010pot.1_Missense_Mutation_p.G60E NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 162 extracellular region p.E161*(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GGAATCACTTCCTTCAGCTCG 0.428000 63 11 0 0 0.00185496 0 0 ECM2 1842 broad.mit.edu 37 9 95272208 95272208 + Nonsense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:95272208G>A uc011lty.2 - 5 1466 c.1279C>T c.(1279-1281)Cag>Tag p.Q427* CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Nonsense_Mutation_p.Q405*|ECM2_uc004asg.3_Nonsense_Mutation_p.Q405* NM_001393 NP_001384 O94769 ECM2_HUMAN Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA. 427 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 TCGATAGCCTGAAGATTGTTC 0.289000 43 6 0 0 0.00116845 0 0 B4GALNT3 283358 broad.mit.edu 37 12 666915 666915 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:666915C>T uc001qii.1 + 15 2522 c.2522C>T c.(2521-2523)tCc>tTc p.S841F B4GALNT3_uc001qik.1_Missense_Mutation_p.S390F NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 841 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CTGAAGAGGTCCAAGCTGCGG 0.577000 39 5 0 0 0.00307968 0 0 VPS13B 157680 broad.mit.edu 37 8 100871677 100871677 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:100871677G>A uc003yiv.3 + 56 11199 c.11088G>A c.(11086-11088)ggG>ggA p.G3696G VPS13B_uc003yiw.3_Silent_p.G3671G NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 3696 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) TCTCCAGAGGGACCACATCGT 0.522000 75 7 0 0 0.000673444 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23886508 23886508 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:23886508G>A uc003gqs.3 - 1 221 c.101C>T c.(100-102)cCt>cTt p.P34L PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_5'Flank|PPARGC1A_uc010ier.1_Non-coding_Transcript|PPARGC1A_uc003gqu.4_Missense_Mutation_p.P34L NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA. 34 RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) ATCAAGTTCAGGAAGATCTGG 0.423000 30 4 0 0 0.00024832 0 0 KIF18B 146909 broad.mit.edu 37 17 43009476 43009476 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:43009476G>A uc010wji.2 - 9 1474 c.1373C>T c.(1372-1374)tCt>tTt p.S458F KIF18B_uc002iht.3_Missense_Mutation_p.S458F|KIF18B_uc010wjh.2_Missense_Mutation_p.S446F NM_001080443 NP_001073912 Homo sapiens kinesin family member 18B (KIF18B), mRNA. breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) CTGGTCTGAAGAGTTCCCTTC 0.637000 32 6 0 0 0.00198382 0 0 ODF4 146852 broad.mit.edu 37 17 8243450 8243450 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:8243450G>A uc002gle.1 + 0 263 c.81G>A c.(79-81)agG>agA p.R27R NM_153007 NP_694552 Q2M2E3 ODFP4_HUMAN Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA. 27 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1) 8 GAAAGGAAAGGAAGAGTGGGG 0.557000 57 10 0 0 0.000978159 0 0 CEP192 55125 broad.mit.edu 37 18 13056565 13056565 + Missense_Mutation SNP T A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:13056565T>A uc010xac.2 + 18 4056 c.3976T>A c.(3976-3978)Tct>Act p.S1326T CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.S851T|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.S1067T NM_032142 NP_115518 B7ZMF0 B7ZMF0_HUMAN Homo sapiens centrosomal protein 192kDa (CEP192), mRNA. 921 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GATGGGTACCTCTTCCCTCTG 0.468000 95 18 0 0 0.000566183 0 0 ARMC9 80210 broad.mit.edu 37 2 232156154 232156154 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:232156154C>T uc002vrq.4 + 17 1827 c.1715C>T c.(1714-1716)tCc>tTc p.S572F ARMC9_uc002vrp.4_Missense_Mutation_p.S572F|ARMC9_uc002vrr.1_Non-coding_Transcript NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA. 572 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) CAGCTAAATTCCGGTCAGTTT 0.408000 105 15 0 0 0.00316338 0 0 LSG1 55341 broad.mit.edu 37 3 194369449 194369450 + Nonsense_Mutation DNP GG AA AA TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:194369449_194369450GG>AA uc003fui.3 - 10 1818_1819 c.1503_1504CC>TT c.(1501-1506)caccga>caTTga p.R502* NM_018385 NP_060855 Q9H089 LSG1_HUMAN Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA. 502 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) GTTGGAGGTCGGTGGGGATCTT 0.391000 71 25 0 0 6.4e-05 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634453 70634453 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:70634453G>A uc001xly.3 - 1 1441 c.687C>T c.(685-687)gtC>gtT p.V229V SLC8A3_uc001xlw.3_Silent_p.V229V|SLC8A3_uc001xlx.3_Silent_p.V229V|SLC8A3_uc001xlz.3_Silent_p.V229V|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 229 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCCAAACCTGGACCACACCAG 0.493000 34 4 0 0 0.00116845 0 0 HACE1 57531 broad.mit.edu 37 6 105232044 105232044 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:105232044G>A uc003pqu.1 - 13 1760 c.1483C>T c.(1483-1485)Ccc>Tcc p.P495S HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.P495S|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Missense_Mutation_p.P148S NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA. 495 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) ATAATTTTGGGATTTCTAAAA 0.308000 56 5 0 0 0.000602214 0 0 IPO9 55705 broad.mit.edu 37 1 201825035 201825035 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:201825035C>T uc001gwz.3 + 9 1145 c.1095C>T c.(1093-1095)atC>atT p.I365I NM_018085 NP_060555 Q96P70 IPO9_HUMAN Homo sapiens importin 9 (IPO9), mRNA. 365 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ATTATATTATCCTGTACATGC 0.343000 77 10 0 0 0.00185496 0 0 WFS1 7466 broad.mit.edu 37 4 6303256 6303256 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:6303256C>T uc003giy.3 + 7 1900 c.1734C>T c.(1732-1734)gcC>gcT p.A578A WFS1_uc003gix.3_Silent_p.A578A|WFS1_uc003giz.3_Silent_p.A396A NM_001145853 NP_005996 O76024 WFS1_HUMAN Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA. 578 ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) CCGGCCTGGCCCTGGTGGGCG 0.662000 421 59 0 0 0.00361006 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110030084 110030084 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:110030084C>T uc010rwc.2 + 3 1020 c.1020C>T c.(1018-1020)atC>atT p.I340I ZC3H12C_uc009yxw.3_Silent_p.I339I|ZC3H12C_uc010rwd.2_Silent_p.I340I|ZC3H12C_uc001pkr.4_Silent_p.I308I|ZC3H12C_uc001pkq.2_Silent_p.I308I NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA. 339 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) ACAGGTTCATCGTGAAGCTGG 0.468000 31 7 0 0 0.000274275 0 0 SPRR2A 6700 broad.mit.edu 37 1 153029007 153029007 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:153029007G>A uc021ozr.1 - 0 205 c.205C>T c.(205-207)Ccg>Tcg p.P69S SPRR2A_uc001fbf.3_Non-coding_Transcript|SPRR2A_uc001fbd.3_Missense_Mutation_p.P69S NM_005988 NP_005979 P35326 SPR2A_HUMAN Homo sapiens small proline-rich protein 2A (SPRR2A), mRNA. 69 keratinization cornified envelope|cytoplasm binding large_intestine(2)|ovary(1) 3 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TTGCTCTTCGGTGGATACTTT 0.512000 204 24 0 0 0.00395357 0 0 ANO3 63982 broad.mit.edu 37 11 26660733 26660733 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:26660733G>A uc001mqt.4 + 20 2231 c.2086G>A c.(2086-2088)Ggt>Agt p.G696S ANO3_uc010rdr.2_Missense_Mutation_p.G680S|ANO3_uc010rds.2_Missense_Mutation_p.G535S|ANO3_uc010rdt.2_Missense_Mutation_p.G550S NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN Homo sapiens anoctamin 3 (ANO3), mRNA. 696 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 CCTCCAGATGGGTGTCATCAT 0.398000 39 6 0 0 0.00198382 0 0 TAF7 6879 broad.mit.edu 37 5 140699461 140699461 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140699461C>T uc003ljg.3 - 0 891 c.151G>A c.(151-153)Ggg>Agg p.G51R NM_005642 NP_005633 Q15545 TAF7_HUMAN Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA. 51 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATGACGCCCATCAGGATGT 0.458000 87 13 0 0 0.00185496 0 0 TAOK2 9344 broad.mit.edu 37 16 29998717 29998717 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:29998717C>T uc010bzm.2 + 14 3180 c.3145C>T c.(3145-3147)Ccc>Tcc p.P1049S BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.P929S|TAOK2_uc002dva.2_Missense_Mutation_p.P1042S|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.P869S NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA. 1042 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity p.P1042S(1) breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CATGGGTGTTCCCCTGGGCCT 0.687000 48 10 0 0 0.000673444 0 0 XIST 7503 broad.mit.edu 37 X 73067708 73067708 + RNA SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:73067708G>A uc004ebm.1 - 0 c.4881C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. TAGTCCCAGGGAAAGGTAACA 0.383000 65 27 0 0 0.001512 0 0 MUC16 94025 broad.mit.edu 37 19 9072723 9072723 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9072723G>A uc002mkp.3 - 2 14927 c.14723C>T c.(14722-14724)tCg>tTg p.S4908L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4910 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 CTCTGTGGACGAGGTGATCTC 0.493000 171 19 0 0 0.00074312 0 0 FAM129A 116496 broad.mit.edu 37 1 184764533 184764533 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:184764533G>A uc001gra.3 - 13 2559 c.2365C>T c.(2365-2367)Cca>Tca p.P789S FAM129A_uc001grb.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 789 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 CCTACCTCTGGAAATCCCCCC 0.662000 213 25 0 0 0.000720815 0 0 MYH13 8735 broad.mit.edu 37 17 10258014 10258014 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10258014C>T uc002gmk.1 - 10 1078 c.988G>A c.(988-990)Gaa>Aaa p.E330K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 330 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity p.E330K(3) 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 GCCAGCAGTTCTTCACTGTCA 0.463000 114 12 0 0 0.00185496 0 0 SCN5A 6331 broad.mit.edu 37 3 38592248 38592248 + Missense_Mutation SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:38592248T>C uc021wvo.1 - 26 5667 c.5615A>G c.(5614-5616)aAg>aGg p.K1872R SCN5A_uc021wvk.1_Missense_Mutation_p.K1839R|SCN5A_uc021wvl.1_Missense_Mutation_p.K1818R|SCN5A_uc021wvm.1_Missense_Mutation_p.K1854R|SCN5A_uc021wvn.1_Missense_Mutation_p.K1871R|SCN5A_uc021wvp.1_Missense_Mutation_p.K1872R|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.K1684R|SCN5A_uc021wvi.1_Missense_Mutation_p.K1738R NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1872 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CATCTGGATCTTCAGGGCGTC 0.587000 157 8 0 0 0.000274275 0 0 ST18 9705 broad.mit.edu 37 8 53085075 53085075 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:53085075C>T uc003xqz.2 - 4 502 c.346G>A c.(346-348)Gaa>Aaa p.E116K ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E81K|ST18_uc011lds.1_Missense_Mutation_p.E21K|ST18_uc003xra.2_Missense_Mutation_p.E116K|ST18_uc003xrb.2_Missense_Mutation_p.E116K NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 116 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TATCTGTCTTCCTTCCTACTG 0.343000 44 7 0 0 0.00198382 0 0 TCN1 6947 broad.mit.edu 37 11 59622251 59622251 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:59622251G>A uc001noj.2 - 6 1093 c.995C>T c.(994-996)tCa>tTa p.S332L NM_001062 NP_001053 P20061 TCO1_HUMAN Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA. 332 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGAGATATATGATTGTGAGTC 0.413000 56 10 0 0 0.000673444 0 0 SLC15A2 6565 broad.mit.edu 37 3 121659250 121659250 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:121659250C>T uc003eep.2 + 20 2081 c.1928C>T c.(1927-1929)tCt>tTt p.S643F SLC15A2_uc011bjn.1_Missense_Mutation_p.S612F NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 643 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding p.S643F(2) NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) AGCATGAAATCTGTGCTCCAG 0.507000 100 7 0 0 0.00307968 0 0 CDH12 1010 broad.mit.edu 37 5 22078746 22078746 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:22078746G>A uc010iuc.2 - 1 498 c.40C>T c.(40-42)Ctg>Ttg p.L14L CDH12_uc011cno.1_Silent_p.L14L|CDH12_uc003jgk.2_Silent_p.L14L NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 14 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L14M(2)|p.L14L(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CCATCAAACAGAACCCAGAGA 0.453000 HNSCC(59;0.17) 99 10 0 0 0.000978159 0 0 TEX15 56154 broad.mit.edu 37 8 30702531 30702531 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:30702531G>A uc003xil.3 - 0 4003 c.4003C>T c.(4003-4005)Cct>Tct p.P1335S NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 1335 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GATAACTGAGGAATACTGTAC 0.383000 102 16 0 0 0.00074312 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1779144 1779144 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:1779144C>T uc010uvl.2 + 2 565 c.445C>T c.(445-447)Cgg>Tgg p.R149W MAPK8IP3_uc002cmi.1_Missense_Mutation_p.R149W|MAPK8IP3_uc002cmj.1_Non-coding_Transcript|MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R149W|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R149W|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R149W NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA. 149 vesicle-mediated transport Golgi membrane MAP-kinase scaffold activity|kinesin binding|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 TCCAGTTTCCCGGTTGGAGGA 0.592000 125 30 0 0 0.00111076 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128994424 128994424 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:128994424G>A uc003kvb.1 + 14 2401 c.2401G>A c.(2401-2403)Gga>Aga p.G801R ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 801 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TCACACCAGAGGAGCAGGTAA 0.318000 74 7 0 0 0.000274275 0 0 NUP133 55746 broad.mit.edu 37 1 229623326 229623326 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:229623326G>A uc001htn.3 - 9 1321 c.1229C>T c.(1228-1230)cCa>cTa p.P410L NM_018230 NP_060700 Q8WUM0 NU133_HUMAN Homo sapiens nucleoporin 133kDa (NUP133), mRNA. 410 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TGAAAAGTTTGGGACCGTCAA 0.348000 97 9 0 0 0.000673444 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183029 167183029 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:167183029C>T uc003fes.1 - 4 932 c.861G>A c.(859-861)gaG>gaA p.E287E SERPINI2_uc003fer.1_Silent_p.E277E|SERPINI2_uc003fet.1_Silent_p.E277E NM_006217 NP_006208 O75830 SPI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA. 277 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 CTTCTTGCATCTCAGAGAGCC 0.358000 105 28 0 0 0.00127121 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138174 126138174 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:126138174G>A uc001uhe.1 + 8 2163 c.2155G>A c.(2155-2157)Gat>Aat p.D719N TMEM132B_uc001uhf.1_Missense_Mutation_p.D231N NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 719 integral to membrane p.Y718H(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) AGACATTTACGATCCTAAGGA 0.403000 123 10 0 0 0.000978159 0 0 COX4NB 10328 broad.mit.edu 37 16 85814035 85814035 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:85814035G>A uc002fjd.3 - 3 670 c.423C>T c.(421-423)atC>atT p.I141I COX4NB_uc010vol.2_Intron NM_006067 NP_006058 O43402 CX4NB_HUMAN Homo sapiens COX4 neighbor (COX4NB), transcript variant 1, mRNA. 141 mitochondrion|nucleus large_intestine(1)|upper_aerodigestive_tract(1) 2 CGTACACGTGGATCGTAGGCG 0.607000 45 7 0 0 0.000274275 0 0 CHD5 26038 broad.mit.edu 37 1 6206398 6206398 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:6206398C>T uc001amb.2 - 10 1787 c.1676G>A c.(1675-1677)gGg>gAg p.G559E CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 559 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GTCTTCATCCCCAGAGCCGTA 0.557000 59 20 0 0 0.00229938 0 0 XKR3 150165 broad.mit.edu 37 22 17288683 17288683 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:17288683C>T uc002zlv.3 - 1 379 c.281G>A c.(280-282)aGa>aAa p.R94K XKR3_uc011agf.2_Missense_Mutation_p.R94K NM_175878 NP_787074 Q5GH77 XKR3_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA. 94 integral to membrane|plasma membrane p.R94I(2) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGCCTTATTTCTCCTCAAGTC 0.358000 76 7 0 0 0.000274275 0 0 ATP2B4 493 broad.mit.edu 37 1 203689718 203689718 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:203689718C>T uc001gzw.3 + 15 3345 c.2448C>T c.(2446-2448)atC>atT p.I816I ATP2B4_uc001gzv.3_Silent_p.I816I|ATP2B4_uc009xaq.3_Silent_p.I816I|ATP2B4_uc001gzx.3_5'Flank|ATP2B4_uc009xar.3_5'Flank NM_001684 NP_001675 P23634 AT2B4_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA. 816 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTCAGACATCATCCTAACAG 0.507000 42 10 0 0 0.00136819 0 0 CEP97 79598 broad.mit.edu 37 3 101483907 101483907 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:101483907C>T uc003dvk.1 + 10 2137 c.2110C>T c.(2110-2112)Cat>Tat p.H704Y CEP97_uc011bhf.1_Missense_Mutation_p.H645Y|CEP97_uc003dvl.1_Missense_Mutation_p.H426Y|CEP97_uc003dvm.1_Missense_Mutation_p.H542Y NM_024548 NP_078824 Q8IW35 CEP97_HUMAN Homo sapiens centrosomal protein 97kDa (CEP97), mRNA. 704 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 CTCTGGTTTTCATTCCTCTCT 0.398000 97 7 0 0 0.00307968 0 0 DNAH2 146754 broad.mit.edu 37 17 7684361 7684361 + Splice_Site SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:7684361T>C uc002giu.1 + 38 6018 c.6004_splice c.e38-1 p.V2002_splice NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 2002 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCCATTCAGGTTCTGCTGCTC 0.512000 167 15 0 0 0.00400662 0 0 C6orf48 50854 broad.mit.edu 37 6 31807420 31807420 + Nonsense_Mutation SNP G T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:31807420G>T uc003rjx.2 + 4 721 c.208G>T c.(208-210)Gga>Tga p.G70* C6orf48_uc003rjy.2_Nonsense_Mutation_p.G70*|C6orf48_uc003rjz.2_Nonsense_Mutation_p.G70* NM_001040437 NP_001035528 Q9UBA6 G8_HUMAN Homo sapiens chromosome 6 open reading frame 48 (C6orf48), transcript variant 1, mRNA. 70 breast(1)|large_intestine(1)|lung(1)|skin(1) 4 CCTTATTGGGGGAAAAATGCC 0.373000 456 67 1.74474e-33 5.16922e-33 0.00361006 1 0 LLGL2 3993 broad.mit.edu 37 17 73567141 73567141 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:73567141C>T uc002joh.3 + 16 2290 c.2136C>T c.(2134-2136)ttC>ttT p.F712F LLGL2_uc002joi.3_Silent_p.F712F|LLGL2_uc010dgg.2_Silent_p.F712F|LLGL2_uc002joj.3_Silent_p.F701F|LLGL2_uc010wsd.2_Silent_p.F339F NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 712 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TCACAGGCTTCGTCCGGACCC 0.652000 126 28 0 0 0.00178596 0 0 PTK7 5754 broad.mit.edu 37 6 43109528 43109528 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:43109528C>T uc011dve.1 + 10 1807 c.1765C>T c.(1765-1767)Cgt>Tgt p.R589C PTK7_uc003oub.1_Missense_Mutation_p.R581C|PTK7_uc003ouc.1_Missense_Mutation_p.R581C|PTK7_uc003oud.1_Missense_Mutation_p.R541C|PTK7_uc003oue.1_Missense_Mutation_p.R451C|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron NM_002821 NP_002812 Q13308 PTK7_HUMAN Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA. 581 Ig-like C2-type 7. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GGGCCAGATTCGTGCCCATGT 0.657000 145 12 0 0 0.00244969 0 0 LMOD1 25802 broad.mit.edu 37 1 201869306 201869306 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:201869306C>T uc021phl.1 - 1 1083 c.835G>A c.(835-837)Gaa>Aaa p.E279K LMOD1_uc021phm.1_Missense_Mutation_p.E279K|LMOD1_uc010ppu.2_Missense_Mutation_p.E228K NM_012134 NP_036266 P29536 LMOD1_HUMAN Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA. 279 8 X approximate tandem repeats. muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GCTTCCTTTTCATGTAAGGGT 0.493000 45 6 0 0 0.00116845 0 0 MAFA 389692 broad.mit.edu 37 8 144511677 144511677 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:144511677C>T uc003yyc.2 - 0 926 c.900G>A c.(898-900)gtG>gtA p.V300V NM_201589 NP_963883 Q8NHW3 MAFA_HUMAN Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) (MAFA), mRNA. 300 Leucine-zipper. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CCAGGCGCCCCACCTCCAGCT 0.692000 HNSCC(29;0.082) 35 5 0 0 0.00116845 0 0 CDH6 1004 broad.mit.edu 37 5 31317792 31317792 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:31317792G>A uc003jhe.2 + 10 2003 c.1643G>A c.(1642-1644)gGa>gAa p.G548E CDH6_uc003jhd.2_Missense_Mutation_p.G548E NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 548 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AACACGGCGGGAATCTTAACT 0.418000 73 7 0 0 0.000673444 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673169 141673169 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:141673169G>A uc003vwx.1 - 0 405 c.321C>T c.(319-321)ctC>ctT p.L107L NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 107 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CAGCAAGCCAGAGGTTGGCTT 0.517000 89 9 0 0 0.000978159 0 0 ZNF536 9745 broad.mit.edu 37 19 30936037 30936037 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:30936037C>T uc002nsu.1 + 1 1706 c.1568C>T c.(1567-1569)gCt>gTt p.A523V ZNF536_uc010edd.1_Missense_Mutation_p.A523V NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 523 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) AGCTACCAGGCTTGGCAGCTC 0.617000 100 9 0 0 0.000442599 0 0 SNRPN 6638 broad.mit.edu 37 15 25442574 25442574 + RNA SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:25442574G>A uc001yzf.1 + 5 c.569G>A SNRPN_uc001yzk.1_5'Flank|SNRPN_uc010ayo.1_5'Flank|SNORD115-16_uc001yzm.1_5'Flank P63162 RSMN_HUMAN Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex RNA binding|identical protein 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) CTGGCCCCGGGAAAATGTCCC 0.602000 Prader-Willi syndrome 10 3 0 0 6.4e-05 0 0 RNF17 56163 broad.mit.edu 37 13 25338447 25338447 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:25338447G>A uc001upr.3 + 0 147 c.106G>A c.(106-108)Gga>Aga p.G36R RNF17_uc010tdd.1_5'UTR|RNF17_uc010tde.2_Missense_Mutation_p.G36R|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Intron|RNF17_uc001upq.1_Missense_Mutation_p.G36R NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 36 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) CACCAGGTGTGGAAGGAGGGT 0.652000 21 6 0 0 0.00116845 0 0 EPHA7 2045 broad.mit.edu 37 6 93967960 93967960 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:93967960C>T uc003poe.3 - 10 2208 c.1967G>A c.(1966-1968)gGg>gAg p.G656E EPHA7_uc003pof.3_Missense_Mutation_p.G651E|EPHA7_uc011eac.2_Missense_Mutation_p.G652E NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 656 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.G656W(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATCTCTTTTCCCTGGAAGTTT 0.383000 85 8 0 0 0.00307968 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499593 104499593 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:104499593G>A uc004bbp.2 - 0 1270 c.669C>T c.(667-669)atC>atT p.I223I GRIN3A_uc004bbq.1_Silent_p.I223I NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 223 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CGTGGCGCACGATGCTGATCA 0.632000 43 5 0 0 0.00198382 0 0 ZNF586 54807 broad.mit.edu 37 19 58290215 58290215 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:58290215C>T uc002qqd.3 + 2 451 c.260C>T c.(259-261)cCt>cTt p.P87L ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Missense_Mutation_p.P44L|ZNF586_uc002qqe.3_Missense_Mutation_p.L45F|ZNF586_uc002qqf.2_Intron NM_017652 NP_001191743 Q9NXT0 ZN586_HUMAN Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA. 87 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1) 15 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAGAAAGGCCTTATGAGTGT 0.453000 80 13 0 0 0.00185496 0 0 KRT34 3885 broad.mit.edu 37 17 39537398 39537398 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:39537398C>T uc002hwm.3 - 2 636 c.624G>A c.(622-624)ctG>ctA p.L208L NM_021013 NP_066293 O76011 KRT34_HUMAN Homo sapiens keratin 34 (KRT34), mRNA. 208 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) TCAGCTCATCCAGGATCCTGC 0.557000 76 6 0 0 0.00116845 0 0 GADL1 339896 broad.mit.edu 37 3 30891538 30891538 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:30891538C>T uc003cep.2 - 5 648 c.601G>A c.(601-603)Gaa>Aaa p.E201K GADL1_uc003ceq.1_Missense_Mutation_p.E201K NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA. 201 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) AGCCCCTTTTCCTTAATATCA 0.323000 46 5 0 0 0.00116845 0 0 PPP1CA 5499 broad.mit.edu 37 11 67166015 67166015 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:67166015G>A uc001okw.1 - 6 1107 c.984C>T c.(982-984)gcC>gcT p.A328A PPP1CA_uc001oku.1_Silent_p.A339A|PPP1CA_uc001okv.1_Silent_p.A284A|PPP1CA_uc001okx.1_Silent_p.A416A NM_002708 NP_002699 P62136 PP1A_HUMAN Homo sapiens protein phosphatase 1, catalytic subunit, alpha isozyme (PPP1CA), transcript variant 1, mRNA. 328 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process MLL5-L complex|PTW/PP1 phosphatase complex|cytosol|nucleolus metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|lung(2)|pancreas(1)|urinary_tract(3) 7 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) GCTATTTCTTGGCTTTGGCGG 0.612000 50 6 0 0 0.00116845 0 0 ESRP1 54845 broad.mit.edu 37 8 95705053 95705053 + Missense_Mutation SNP C A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:95705053C>A uc003ygq.4 + 13 2152 c.1969C>A c.(1969-1971)Cag>Aag p.Q657K ESRP1_uc003ygr.4_Missense_Mutation_p.Q653K|ESRP1_uc003ygs.4_Missense_Mutation_p.Q653K|ESRP1_uc003ygt.4_Intron|ESRP1_uc003ygu.4_Intron|ESRP1_uc003ygv.3_Missense_Mutation_p.Q497K|ESRP1_uc003ygw.3_Intron NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA. 657 RNA splicing|mRNA processing|regulation of 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 CCAAGGTTACCAGGTCAGTAG 0.453000 314 12 0.00136819 0.00401022 0.00136819 1 0 SUPT6H 6830 broad.mit.edu 37 17 27024697 27024697 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:27024697C>T uc010crt.3 + 31 4461 c.4269C>T c.(4267-4269)gcC>gcT p.A1423A SUPT6H_uc002hby.3_Silent_p.A1423A NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 1423 SH2. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|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) CATCCTTTGCCCGGGACCTTC 0.517000 65 11 0 0 0.000978159 0 0 CR2 1380 broad.mit.edu 37 1 207641876 207641876 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:207641876C>T uc001hfw.3 + 2 569 c.450C>T c.(448-450)ttC>ttT p.F150F CR2_uc001hfv.3_Silent_p.F150F|CR2_uc009xch.3_Silent_p.F150F|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 150 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GTAAAGTTTTCCCTCTCGAGT 0.463000 33 15 0 0 0.00074312 0 0 SLC22A14 9389 broad.mit.edu 37 3 38354523 38354523 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:38354523G>A uc003cib.2 + 4 1051 c.978G>A c.(976-978)atG>atA p.M326I SLC22A14_uc010hhc.1_Missense_Mutation_p.M326I|SLC22A14_uc011ayo.1_Non-coding_Transcript NM_004803 NP_004794 Q9Y267 S22AE_HUMAN Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA. 326 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GGCTGATGATGAAAGGGAAGG 0.577000 15 4 0 0 0.00024832 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39156007 39156007 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:39156007G>A uc002hvs.3 - 0 132 c.99C>T c.(97-99)ccC>ccT p.P33P NM_031959 NP_114165 Q9BYR7 KRA32_HUMAN Homo sapiens keratin associated protein 3-2 (KRTAP3-2), mRNA. 33 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) GGCAGGTGCTGGGCAGGCAGA 0.627000 74 14 0 0 0.00244969 0 0 CNTN2 6900 broad.mit.edu 37 1 205034331 205034331 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:205034331C>T uc001hbr.3 + 12 1905 c.1636C>T c.(1636-1638)Ctg>Ttg p.L546L CNTN2_uc001hbq.1_Silent_p.L437L|CNTN2_uc001hbs.3_Silent_p.L334L NM_005076 NP_005067 Q02246 CNTN2_HUMAN Homo sapiens contactin 2 (axonal) (CNTN2), mRNA. 546 Ig-like C2-type 6. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACCTGGACCCTGGACGACTT 0.587000 150 13 0 0 0.000958276 0 0 OR7C2 26658 broad.mit.edu 37 19 15052342 15052342 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:15052342C>T uc010xoc.2 + 0 42 c.42C>T c.(40-42)ctC>ctT p.L14L NM_012377 NP_036509 O60412 OR7C2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) ACTTTCTCCTCCTGGGATTCG 0.493000 77 15 0 0 0.00244969 0 0 WDR11 55717 broad.mit.edu 37 10 122612140 122612140 + Missense_Mutation SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:122612140T>C uc021pzt.1 + 1 437 c.191T>C c.(190-192)gTt>gCt p.V64A LOC283089_uc001lfb.1_5'Flank|WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN Homo sapiens WD repeat domain 11 (WDR11), mRNA. 64 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 AAAGCTGATGTTGTAAAGGTA 0.353000 33 9 0 0 0.000442599 0 0 KIAA1609 57707 broad.mit.edu 37 16 84520567 84520567 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:84520567G>A uc002fib.3 - 4 735 c.628C>T c.(628-630)Ctg>Ttg p.L210L KIAA1609_uc010vod.2_Silent_p.L183L NM_020947 NP_065998 Q6P9B6 K1609_HUMAN Homo sapiens KIAA1609 (KIAA1609), mRNA. 210 protein binding endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2) 18 ACCACACTCAGGAATATGGCC 0.562000 56 8 0 0 0.00307968 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T G G rs10796418 by1000genomes TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:16946407T>G uc010ocf.2 - 2 c.491A>C CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA. AGCAATCTCCTCACTCAGCTG 0.672000 34 6 0 0 0.00198382 0 0 PTPRE 5791 broad.mit.edu 37 10 129881150 129881150 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:129881150G>A uc009yat.3 + 21 2533 c.2116G>A c.(2116-2118)Gat>Aat p.D706N PTPRE_uc001lkb.3_Missense_Mutation_p.D695N|PTPRE_uc009yau.2_Missense_Mutation_p.D695N|PTPRE_uc001lkd.3_Missense_Mutation_p.D637N|PTPRE_uc010quq.1_Silent_p.L550L NM_006504 NP_006495 P23469 PTPRE_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA. 695 negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) TATATTTTCTGATTATGCTAA 0.249000 57 11 0 0 0.000978159 0 0 ENAH 55740 broad.mit.edu 37 1 225718287 225718287 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:225718287G>A uc001hpc.1 - 3 856 c.403C>T c.(403-405)Cca>Tca p.P135S ENAH_uc021pju.1_Missense_Mutation_p.P122S|ENAH_uc001hpd.1_Missense_Mutation_p.P135S NM_001008493 NP_001008493 Q8N8S7 ENAH_HUMAN Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA. 135 T cell receptor signaling pathway|axon guidance|intracellular transport cytosol|filopodium|focal adhesion|lamellipodium|synapse SH3 domain binding|WW domain binding|actin binding NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) TCTTGGGATGGGCCATTTTGA 0.353000 149 12 0 0 0.00316338 0 0 DRD5 1816 broad.mit.edu 37 4 9784955 9784955 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:9784955C>T uc003gmb.4 + 0 1698 c.1302C>T c.(1300-1302)ttC>ttT p.F434F NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 434 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) AGGGTCCTTTCGATCGCATGT 0.557000 69 9 0 0 0.000274275 0 0 RYR2 6262 broad.mit.edu 37 1 237780696 237780696 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:237780696C>T uc001hyl.1 + 37 5946 c.5826C>T c.(5824-5826)ttC>ttT p.F1942F NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1942 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATCAACGTTTCCGATACAACG 0.463000 69 11 0 0 0.00136819 0 0 ZNF536 9745 broad.mit.edu 37 19 31039268 31039268 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:31039268C>T uc002nsu.1 + 3 2880 c.2742C>T c.(2740-2742)ttC>ttT p.F914F ZNF536_uc010edd.1_Silent_p.F914F NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 914 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.F914F(2) 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) GTGTGAATTTCCAAGGGTCCT 0.493000 217 28 0 0 0.001512 0 0 RXFP2 122042 broad.mit.edu 37 13 32355829 32355829 + Silent SNP A T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:32355829A>T uc001utt.3 + 9 878 c.807A>T c.(805-807)atA>atT p.I269I RXFP2_uc010aba.3_Silent_p.I269I NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 269 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GCAATAGAATAAAGTATCTCA 0.338000 43 5 0 0 0.000602214 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010765 73010765 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:73010765G>A uc003tyn.1 - 11 1915 c.1867C>T c.(1867-1869)Cct>Tct p.P623S MLXIPL_uc003tyj.1_Missense_Mutation_p.P4S|MLXIPL_uc003tyk.1_Missense_Mutation_p.P623S|MLXIPL_uc003tym.1_Missense_Mutation_p.P623S|MLXIPL_uc003tyl.1_Missense_Mutation_p.P623S|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.P529S NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 623 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) AGAGTCCCAGGGCCTGGCATG 0.657000 61 10 0 0 0.000978159 0 0 INSRR 3645 broad.mit.edu 37 1 156814413 156814414 + Missense_Mutation DNP CC TT TT TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:156814413_156814414CC>TT uc010pht.2 - 13 2876_2877 c.2577_2578GG>AA c.(2575-2580)gaggcc>gaAAcc p.A860T NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 860 Fibronectin type-III 3. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGCACTGTGGCCTCCTGAGAGT 0.629000 35 10 0 0 6.4e-05 0 0 MUC17 140453 broad.mit.edu 37 7 100685859 100685859 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:100685859C>T uc003uxp.1 + 2 11215 c.11162C>T c.(11161-11163)aCc>aTc p.T3721I MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3721 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) TCTGTTGTCACCAGCACACCT 0.498000 133 24 0 0 0.000878237 0 0 PPARD 5467 broad.mit.edu 37 6 35392547 35392547 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:35392547C>T uc003okn.3 + 7 1474 c.1069C>T c.(1069-1071)Ctg>Ttg p.L357L PPARD_uc003okl.3_Silent_p.L357L|PPARD_uc011dtb.2_Silent_p.L318L|PPARD_uc011dtc.2_Silent_p.L259L|PPARD_uc003okm.3_Silent_p.L357L NM_001171818 NP_006229 Q03181 PPARD_HUMAN Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA. 357 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) GGCCATCATTCTGTGTGGAGG 0.557000 51 5 0 0 0.00116845 0 0 KDM2B 84678 broad.mit.edu 37 12 122012474 122012474 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:122012474G>A uc001uat.3 - 3 479 c.375C>T c.(373-375)gtC>gtT p.V125V KDM2B_uc001uas.3_Silent_p.V94V|KDM2B_uc021rfd.1_Silent_p.V94V|KDM2B_uc001uau.3_Silent_p.V8V|KDM2B_uc021rfe.1_Silent_p.V125V|KDM2B_uc001uav.4_Silent_p.V125V NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA. 125 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus 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|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TGACGTCTCGGACTGTGAAAT 0.567000 76 7 0 0 0.000274275 0 0 SI 6476 broad.mit.edu 37 3 164704953 164704953 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:164704953G>A uc003fei.3 - 44 5233 c.5170C>T c.(5170-5172)Ctg>Ttg p.L1724L NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1724 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCCCAAAACAGAGAACCCTGT 0.333000 HNSCC(35;0.089) 115 7 0 0 0.000442599 0 0 TTN 7273 broad.mit.edu 37 2 179440844 179440844 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179440844C>T uc021vsy.1 - 274 62536 c.62311G>A c.(62311-62313)Gag>Aag p.E20771K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E14466K|TTN_uc021vta.1_Missense_Mutation_p.E14399K|TTN_uc021vtb.1_Missense_Mutation_p.E14274K|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21698 Fibronectin type-III 50. 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) GGAGCCATCTCCCGTTCTACG 0.443000 70 10 0 0 0.000442599 0 0 BTBD11 121551 broad.mit.edu 37 12 108011150 108011150 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:108011150G>A uc001tmk.1 + 8 2689 c.2168G>A c.(2167-2169)gGa>gAa p.G723E BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.G723E|BTBD11_uc001tml.1_Missense_Mutation_p.G260E NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 723 integral to membrane DNA binding p.G723R(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TACAGGAATGGAATTTCTACA 0.532000 94 18 0 0 0.000566183 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757027 56757027 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:56757027C>T uc010rjp.2 + 0 639 c.639C>T c.(637-639)gtC>gtT p.V213V NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA. 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 CTGGGTTGGTCGTCATCTTTT 0.433000 130 16 0 0 0.000566183 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531337 140531337 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140531337C>T uc003lir.3 + 0 1499 c.1499C>T c.(1498-1500)tCc>tTc p.S500F NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 500 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCTCTCTTCCCTGGTCTCC 0.652000 150 23 0 0 0.001512 0 0 SYPL1 6856 broad.mit.edu 37 7 105732265 105732265 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:105732265G>A uc003vdp.3 - 5 848 c.766C>T c.(766-768)Cct>Tct p.P256S SYPL1_uc003vdo.3_Missense_Mutation_p.P238S NM_006754 NP_874384 Q16563 SYPL1_HUMAN Homo sapiens synaptophysin-like 1 (SYPL1), transcript variant 1, mRNA. 256 synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 ATTCCGGTAGGAGGTGGAATA 0.408000 62 6 0 0 0.000274275 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919144 12919144 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:12919144C>T uc001aum.1 + 1 367 c.280C>T c.(280-282)Cgc>Tgc p.R94C NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 94 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACAGAAGGATCGCCCCAGGTG 0.552000 200 46 0 0 0.00361006 0 0 TCRBV12S2 0 broad.mit.edu 37 7 142231754 142231754 + Nonsense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:142231754G>A uc003vyh.2 - 1 261 c.163C>T c.(163-165)Cga>Tga p.R55* TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; AGGTCTTGTCGATACCAGAAC 0.488000 172 21 0 0 0.00229938 0 0 TM6SF1 53346 broad.mit.edu 37 15 83805341 83805341 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:83805341G>A uc002bjp.3 + 9 1139 c.1030G>A c.(1030-1032)Gtt>Att p.V344I TM6SF1_uc010bmq.3_Missense_Mutation_p.V313I|TM6SF1_uc002bjq.3_3'UTR|TM6SF1_uc010bmr.3_Non-coding_Transcript|TM6SF1_uc002bjr.3_Missense_Mutation_p.V196I NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA. 344 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 AGCATATGGAGTTCTTCCTCA 0.358000 152 14 0 0 0.00400662 0 0 CLCN1 1180 broad.mit.edu 37 7 143029525 143029525 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:143029525C>T uc003wcr.1 + 10 1267 c.1180C>T c.(1180-1182)Cct>Tct p.P394S CLCN1_uc011ktc.1_Missense_Mutation_p.P56S NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 394 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCTGCTGTATCCTGGAATTGT 0.468000 93 14 0 0 0.00400662 0 0 GPR63 81491 broad.mit.edu 37 6 97247113 97247113 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:97247113C>T uc010kcl.3 - 2 973 c.495G>A c.(493-495)gtG>gtA p.V165V GPR63_uc003pou.3_Silent_p.V165V|GPR63_uc021zcy.1_Silent_p.V165V NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA. 165 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) CTCCTTCTATCACAAATAACC 0.408000 73 6 0 0 0.00307968 0 0 TMEM17 200728 broad.mit.edu 37 2 62728490 62728490 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:62728490G>A uc002sbt.2 - 3 791 c.451C>T c.(451-453)Ctt>Ttt p.L151F TMEM17_uc002sbu.2_3'UTR|TMEM17_uc002sbv.1_3'UTR NM_198276 NP_938017 Q86X19 TMM17_HUMAN Homo sapiens transmembrane protein 17 (TMEM17), mRNA. 151 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 Lung NSC(7;0.0274)|all_lung(7;0.0568) LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169) TGGAAAGCAAGGAAGAGAGTG 0.403000 89 11 0 0 0.000673444 0 0 ATP10B 23120 broad.mit.edu 37 5 160114835 160114835 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:160114835G>A uc003lym.1 - 4 1094 c.247C>T c.(247-249)Ccc>Tcc p.P83S ATP10B_uc003lyp.2_Missense_Mutation_p.P83S|ATP10B_uc011deg.1_Missense_Mutation_p.P127S|ATP10B_uc003lyo.2_5'Flank NM_025153 NP_079429 O94823 AT10B_HUMAN Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA. 83 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGATTCCGGGGCAGGAAGGTG 0.463000 111 7 0 0 0.000274275 0 0 ANP32C 23520 broad.mit.edu 37 4 165118195 165118195 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:165118195C>T uc011cjk.2 - 0 669 c.669G>A c.(667-669)gaG>gaA p.E223E MARCH1_uc003iqs.2_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA. 223 Asp/Glu-rich (highly acidic). NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4) 35 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) cttcaccaagctcttcttcat 0.448000 33 6 0 0 0.00307968 0 0 GPR141 353345 broad.mit.edu 37 7 37780794 37780794 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:37780794G>A uc003tfm.1 + 0 799 c.799G>A c.(799-801)Gaa>Aaa p.E267K BC043356_uc003tfl.3_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA. 267 integral to membrane|plasma membrane G-protein coupled receptor activity p.N266K(1) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ATTTTATAACGAAATCTTCTT 0.383000 73 11 0 0 0.00136819 0 0 OR5K1 26339 broad.mit.edu 37 3 98188932 98188932 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:98188932C>T uc003dsm.3 + 0 512 c.512C>T c.(511-513)tCg>tTg p.S171L NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA. 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S171L(2)|p.G170A(1)|p.S171T(1) breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTCTGTGGATCGAATCACATC 0.398000 73 26 0 0 0.00106085 0 0 CCDC92 80212 broad.mit.edu 37 12 124421898 124421898 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:124421898C>T uc001ufw.1 - 4 850 c.703G>A c.(703-705)Gaa>Aaa p.E235K CCDC92_uc001ufv.1_Missense_Mutation_p.E218K|CCDC92_uc001ufx.1_Missense_Mutation_p.E235K NM_025140 NP_079416 Q53HC0 CCD92_HUMAN Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA. 235 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) TCCACTGGTTCCCGCAAAAGG 0.602000 75 7 0 0 0.00307968 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815703 179815703 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:179815703C>T uc001gnl.3 - 6 1730 c.916G>A c.(916-918)Gag>Aag p.E306K TOR1AIP2_uc001gnk.3_Missense_Mutation_p.E306K NM_001199260 NP_001186189 Q8NFQ8 TOIP2_HUMAN Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA. 306 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 TTCAGGGTCTCTCTTCCCTCC 0.552000 172 15 0 0 0.000958276 0 0 DBX2 440097 broad.mit.edu 37 12 45410180 45410180 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:45410180G>A uc001rok.1 - 3 1081 c.909C>T c.(907-909)atC>atT p.I303I NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN Homo sapiens developing brain homeobox 2 (DBX2), mRNA. 303 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) AACTCTCCTGGATTAGTCTTT 0.483000 33 10 0 0 0.000673444 0 0 KAT7 11143 broad.mit.edu 37 17 47895285 47895285 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:47895285C>T uc002ipm.3 + 8 1283 c.1067C>T c.(1066-1068)cCt>cTt p.P356L KAT7_uc002ipl.2_Missense_Mutation_p.P326L|KAT7_uc010wma.2_Missense_Mutation_p.P217L|KAT7_uc010wmb.2_Missense_Mutation_p.P246L|KAT7_uc010wmc.2_Missense_Mutation_p.P187L|KAT7_uc010wmd.2_Missense_Mutation_p.P200L|KAT7_uc010wme.2_Missense_Mutation_p.P170L|KAT7_uc010wmf.2_Missense_Mutation_p.P21L|KAT7_uc010wmg.2_Intron NM_007067 NP_008998 O95251 MYST2_HUMAN Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA. 356 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding TCTCCATATCCTGAAGAATAT 0.428000 85 6 0 0 0.00116845 0 0 HGD 3081 broad.mit.edu 37 3 120352111 120352111 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:120352111G>A uc003edw.3 - 12 1531 c.1071C>T c.(1069-1071)ttC>ttT p.F357F HGD_uc003edv.3_Silent_p.F216F NM_000187 NP_000178 Q93099 HGD_HUMAN Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA. 357 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) CCCCTGGCAGGAACCCACCTT 0.522000 152 10 0 0 0.00136819 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41000375 41000375 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:41000375C>T uc003jmj.4 - 38 4919 c.4429G>A c.(4429-4431)Gat>Aat p.D1477N HEATR7B2_uc003jmi.4_Missense_Mutation_p.D1032N NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1477 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 AGATCCTGATCAAGGAGACGG 0.502000 55 12 0 0 0.00136819 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558339 106558339 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:106558339G>A uc009yxn.1 - 8 2618 c.2228C>T c.(2227-2229)tCg>tTg p.S743L GUCY1A2_uc001pjg.1_Missense_Mutation_p.S712L|GUCY1A2_uc010rvo.1_Missense_Mutation_p.S733L NM_000855 NP_000846 P33402 GCYA2_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA. 712 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.S712L(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TATTCTCGACGAAGAAAGAGA 0.478000 100 13 0 0 0.00244969 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951492 30951492 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:30951492C>T uc003aig.1 - 3 860 c.720G>A c.(718-720)ctG>ctA p.L240L GAL3ST1_uc003aih.1_Silent_p.L240L|GAL3ST1_uc003aii.1_Silent_p.L240L|GAL3ST1_uc010gvz.1_Silent_p.L240L NM_004861 NP_004852 Q99999 G3ST1_HUMAN Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA. 240 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 GCTCCACCTCCAGGATGTGCT 0.612000 91 9 0 0 0.000274275 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777753 43777753 + Nonsense_Mutation SNP G A A rs144064003 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:43777753G>A uc010skx.2 - 29 4480 c.4480C>T c.(4480-4482)Cag>Tag p.Q1494* NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1494 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCCCTCTGCTGAACTCCAGAG 0.448000 22 4 0 0 0.000602214 0 0 LRG1 116844 broad.mit.edu 37 19 4538663 4538663 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:4538663G>A uc002mau.3 - 1 344 c.333C>T c.(331-333)ttC>ttT p.F111F PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA. 111 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGCCGCAGGAATTCGGGCG 0.652000 53 5 0 0 0.00116845 0 0 LOC440040 440040 broad.mit.edu 37 11 49598204 49598204 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:49598204C>T uc010rhy.2 + 1 795 c.317C>T c.(316-318)tCc>tTc p.S106F LOC440040_uc009ymb.3_Missense_Mutation_p.S106F Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. TCCTCCTCTTCCTTCTGCTCC 0.512000 28 4 0 0 0.00116845 0 0 TRPC4 7223 broad.mit.edu 37 13 38211475 38211475 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:38211475C>T uc010abx.3 - 10 2749 c.2514G>A c.(2512-2514)caG>caA p.Q838Q TRPC4_uc010abv.3_Silent_p.Q413Q|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Silent_p.Q833Q|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Silent_p.Q660Q|TRPC4_uc010aby.3_Intron NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 833 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCACTTTTCTCTGCTTCTCCC 0.443000 32 5 0 0 0.000602214 0 0 SLC36A4 120103 broad.mit.edu 37 11 92881928 92881928 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:92881928G>A uc001pdn.3 - 10 1387 c.1290C>T c.(1288-1290)atC>atT p.I430I AK093898_uc001pdl.1_5'Flank|SLC36A4_uc001pdm.3_Silent_p.I295I NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA. 430 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AAGGTGGCAGGATTAGGGCCA 0.393000 149 15 0 0 0.00400662 0 0 DNHD1 144132 broad.mit.edu 37 11 6519580 6519580 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:6519580C>T uc001mdw.4 + 2 699 c.135C>T c.(133-135)ttC>ttT p.F45F DNHD1_uc001mdp.3_Silent_p.F45F NM_144666 NP_653267 Q96M86 DNHD1_HUMAN Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA. 45 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) AGAGGCAGTTCGTGAAGCCAG 0.532000 168 24 0 0 0.00106085 0 0 POF1B 79983 broad.mit.edu 37 X 84614582 84614582 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:84614582C>T uc004eer.2 - 3 557 c.411G>A c.(409-411)agG>agA p.R137R POF1B_uc004ees.3_Silent_p.R137R NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 137 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 CTACATATTTCCTAATAGTGG 0.308000 17 6 0 0 0.00307968 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683447 71683447 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:71683447C>T uc002fax.3 - 17 3324 c.3318G>A c.(3316-3318)ctG>ctA p.L1106L PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Silent_p.L1039L|PHLPP2_uc021tkv.1_5'Flank NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA. 1106 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 AGGCAGTGTCCAGGCCCCCAG 0.597000 55 8 0 0 0.00307968 0 0 OR6C75 390323 broad.mit.edu 37 12 55759573 55759573 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:55759573C>T uc010spk.2 + 0 679 c.679C>T c.(679-681)Cct>Tct p.P227S NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TCTGAAAATTCCTTCTATGAG 0.383000 65 10 0 0 0.000673444 0 0 FCGBP 8857 broad.mit.edu 37 19 40362898 40362898 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:40362898C>T uc002omp.4 - 31 15180 c.15172G>A c.(15172-15174)Ggc>Agc p.G5058S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 5058 VWFD 12. 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) GCGAAGGGGCCCTGGGGGTTC 0.652000 138 6 0 0 0.00307968 0 0 STAP2 55620 broad.mit.edu 37 19 4333715 4333715 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:4333715G>A uc002mab.3 - 2 464 c.273C>T c.(271-273)ctC>ctT p.L91L STAP2_uc002mac.3_Silent_p.L91L|STAP2_uc021unb.1_Silent_p.L91L|STAP2_uc021unc.1_Silent_p.L91L|STAP2_uc002mad.3_5'UTR NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA. 91 PH. cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGATCCCGGAGAATCAGGC 0.552000 46 6 0 0 0.00116845 0 0 HSD17B2 3294 broad.mit.edu 37 16 82131706 82131706 + Missense_Mutation SNP G A A rs147477064 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:82131706G>A uc002fgv.3 + 4 1001 c.829G>A c.(829-831)Gaa>Aaa p.E277K NM_002153 NP_002144 P37059 DHB2_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA. 277 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) TGACAAGTGGGAAAAGCTGGA 0.537000 55 12 0 0 0.00136819 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183361 167183361 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:167183361G>A uc003fes.1 - 3 680 c.609C>T c.(607-609)ttC>ttT p.F203F SERPINI2_uc003fer.1_Silent_p.F193F|SERPINI2_uc003fet.1_Silent_p.F193F NM_006217 NP_006208 O75830 SPI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA. 193 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 CCTCTTTTCTGAATTTCTGTT 0.358000 37 7 0 0 0.00198382 0 0 NSUN4 387338 broad.mit.edu 37 1 46810568 46810568 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:46810568C>T uc001cpr.1 + 1 298 c.189C>T c.(187-189)atC>atT p.I63I NSUN4_uc010omc.1_Silent_p.I14I|NSUN4_uc009vyf.1_5'UTR|NSUN4_uc009vyg.1_Silent_p.I14I|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript NM_199044 NP_950245 Q96CB9 NSUN4_HUMAN Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA. 63 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 Acute lymphoblastic leukemia(166;0.155) GGCCATCAATCCGTGTCAGTC 0.493000 108 48 0 0 0.00361006 0 0 NAGPA 51172 broad.mit.edu 37 16 5075593 5075593 + Missense_Mutation SNP C G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:5075593C>G uc002cyg.3 - 9 1461 c.1434G>C c.(1432-1434)agG>agC p.R478S NAGPA_uc010buc.3_Missense_Mutation_p.R175S|NAGPA_uc002cyh.3_Non-coding_Transcript NM_016256 NP_057340 Q9UK23 NAGPA_HUMAN Homo sapiens N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), mRNA. 478 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) GGCGCCGGTTCCTCTCTGCTC 0.652000 69 10 0 0 0.000442599 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456054 5456054 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:5456054C>T uc002mca.4 + 0 629 c.552C>T c.(550-552)atC>atT p.I184I NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA. 184 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) AGGCGGCCATCGTGCACAACG 0.657000 63 10 0 0 0.000442599 0 0 PRDM9 56979 broad.mit.edu 37 5 23523411 23523411 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:23523411G>A uc003jgo.3 + 8 1076 c.894G>A c.(892-894)ggG>ggA p.G298G NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 298 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.K297*(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCACCAAGGGGAGAAACTGCT 0.438000 HNSCC(3;0.000094) 95 15 0 0 0.000566183 0 0 DNAH7 56171 broad.mit.edu 37 2 196619143 196619143 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:196619143C>T uc002utj.4 - 62 11783 c.11682G>A c.(11680-11682)agG>agA p.R3894R DNAH7_uc002uti.4_Silent_p.R377R NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3894 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 TTGTGTATTTCCTGGCGTAGT 0.478000 61 9 0 0 0.000274275 0 0 TRPC7 57113 broad.mit.edu 37 5 135692530 135692530 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:135692530G>A uc003lbn.2 - 1 768 c.546C>T c.(544-546)atC>atT p.I182I TRPC7_uc010jef.2_Silent_p.I173I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I182I|TRPC7_uc010jei.2_Silent_p.I182I NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 182 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGAGCAGCAGGATGTGCACGA 0.607000 172 10 0 0 0.00244969 0 0 MTMR7 9108 broad.mit.edu 37 8 17163275 17163275 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:17163275C>T uc003wxm.3 - 10 1582 c.1343G>A c.(1342-1344)cGa>cAa p.R448Q MTMR7_uc003wxn.3_Missense_Mutation_p.R227Q|MTMR7_uc011kya.2_Missense_Mutation_p.R82Q|MTMR7_uc011kyb.2_Missense_Mutation_p.R39Q NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN Homo sapiens myotubularin related protein 7 (MTMR7), mRNA. 448 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CTTGAGTTCTCGTCTCTCCTT 0.343000 35 7 0 0 0.00307968 0 0 NUP153 9972 broad.mit.edu 37 6 17675216 17675216 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:17675216G>A uc003ncd.1 - 4 972 c.772C>T c.(772-774)Cct>Tct p.P258S NUP153_uc011dje.1_Missense_Mutation_p.P258S|NUP153_uc010jpl.1_Missense_Mutation_p.P258S NM_005124 NP_005115 P49790 NU153_HUMAN Homo sapiens nucleoporin 153kDa (NUP153), mRNA. 258 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GGATAAAAAGGAGAATCTCCA 0.418000 81 14 0 0 0.00400662 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110476955 110476955 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:110476955C>T uc003yne.3 + 48 7998 c.7894C>T c.(7894-7896)Ccc>Tcc p.P2632S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 2632 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) GGAATATTTCCCCATGCAAAC 0.398000 HNSCC(38;0.096) 133 13 0 0 0.00316338 0 0 RBM28 55131 broad.mit.edu 37 7 127970892 127970892 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:127970892G>A uc003vmp.2 - 9 1224 c.1109C>T c.(1108-1110)cCa>cTa p.P370L RBM28_uc011koj.1_Missense_Mutation_p.P229L|RBM28_uc011kok.1_Missense_Mutation_p.P317L NM_018077 NP_060547 Q9NW13 RBM28_HUMAN Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA. 370 RRM 3. RNA splicing|mRNA processing Golgi apparatus|nucleolus|spliceosomal complex RNA binding|nucleotide binding p.H369R(1) breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 CTCTGTGTCTGGATGCAAGAC 0.468000 75 11 0 0 0.00136819 0 0 CPT1B 1375 broad.mit.edu 37 22 51011383 51011383 + Missense_Mutation SNP A C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:51011383A>C uc003bmm.3 - 10 1372 c.1273T>G c.(1273-1275)Tcc>Gcc p.S425A CPT1B_uc003bmk.4_Missense_Mutation_p.S425A|CPT1B_uc003bml.3_Missense_Mutation_p.S425A|CPT1B_uc003bmo.3_Missense_Mutation_p.S425A|CPT1B_uc011asa.2_Missense_Mutation_p.S391A|CPT1B_uc003bmn.3_Missense_Mutation_p.S425A|CPT1B_uc011asb.2_Intron|CPT1B_uc003bmp.3_Missense_Mutation_p.S222A|CPT1B_uc021wsc.1_Non-coding_Transcript NM_004377 NP_689452 Q92523 CPT1B_HUMAN Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 425 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) TAGGAGTAGGATTCCTCATCC 0.602000 169 16 0 0 0.00400662 0 0 CNGB3 54714 broad.mit.edu 37 8 87738790 87738790 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:87738790C>T uc003ydx.3 - 2 355 c.307G>A c.(307-309)Gaa>Aaa p.E103K NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 103 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 GGGTCCATTTCCTTCTGCTCT 0.438000 199 30 0 0 0.0024448 0 0 OR10H3 26532 broad.mit.edu 37 19 15852774 15852774 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:15852774G>A uc010xoq.2 + 0 572 c.572G>A c.(571-573)gGg>gAg p.G191E NM_013938 NP_039226 O60404 O10H3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA. 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G191E(2) cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TTGGCCTGTGGGAGCAAGACA 0.463000 146 21 0 0 0.00188189 0 0 IL12RB1 3594 broad.mit.edu 37 19 18192971 18192971 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:18192971G>A uc002nhx.1 - 3 399 c.348C>T c.(346-348)ttC>ttT p.F116F IL12RB1_uc002nhw.1_Silent_p.F76F|IL12RB1_uc010xqb.1_Silent_p.F76F|IL12RB1_uc002nhy.3_Silent_p.F76F NM_005535 NP_005526 P42701 I12R1_HUMAN Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA. 76 Fibronectin type-III 1. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 AACACCGCAGGAAGTGGCTGA 0.602000 23 4 0 0 0.00024832 0 0 MTUS2 23281 broad.mit.edu 37 13 29600115 29600115 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:29600115C>T uc001usl.4 + 0 1368 c.1310C>T c.(1309-1311)tCc>tTc p.S437F NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 427 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GAAAGGACATCCAGCAGCTTT 0.507000 49 9 0 0 0.000673444 0 0 OR1S1 219959 broad.mit.edu 37 11 57982703 57982703 + Missense_Mutation SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:57982703T>C uc010rkc.2 + 0 487 c.487T>C c.(487-489)Ttc>Ctc p.F163L NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA. 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CATCTCATGGTTCCTCAGTAA 0.483000 123 18 0 0 0.000958276 0 0 WNT8B 7479 broad.mit.edu 37 10 102242541 102242541 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:102242541G>A uc001krb.3 + 5 1138 c.1024G>A c.(1024-1026)Ggc>Agc p.G342S NM_003393 NP_003384 Q93098 WNT8B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA. 342 Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) GCCGCGGGGGGGCGCTGCGCA 0.622000 OREG0020440 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 4 0 0 0.000602214 0 0 DNAH7 56171 broad.mit.edu 37 2 196651813 196651813 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:196651813C>T uc002utj.4 - 57 10900 c.10799G>A c.(10798-10800)tGg>tAg p.W3600* DNAH7_uc002uti.4_Nonsense_Mutation_p.W83* NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3600 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.G3599W(1) 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 AGGAATATTCCACCCTAGGGG 0.403000 76 10 0 0 0.000978159 0 0 FAM59A 64762 broad.mit.edu 37 18 29848148 29848148 + Missense_Mutation SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:29848148T>C uc002kxl.3 - 5 2373 c.2317A>G c.(2317-2319)Atg>Gtg p.M773V FAM59A_uc002kxk.2_Missense_Mutation_p.M772V NM_001242409 NP_001229338 Q9H706 FA59A_HUMAN Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA. 773 endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 36 ATGTCCTGCATGCCCTTTTTA 0.547000 64 7 0 0 0.00307968 0 0 CHD6 84181 broad.mit.edu 37 20 40052213 40052213 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:40052213C>T uc002xka.1 - 29 4652 c.4474G>A c.(4474-4476)Gat>Aat p.D1492N NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 1492 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding p.S1491S(1) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) AGGCTCTCATCCGACTTCTTG 0.433000 254 27 0 0 0.000878237 0 0 AHSG 197 broad.mit.edu 37 3 186333585 186333585 + Splice_Site SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:186333585G>A uc003fqk.4 + 2 405 c.324_splice c.e2+1 p.H108_splice AHSG_uc003fqj.3_Splice_Site_p.H108_splice NM_001622 NP_001613 P02765 FETUA_HUMAN Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA. 108 Cystatin fetuin-A-type 1. acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GAAGGAGCATGTGAGTACCCT 0.567000 47 7 0 0 0.00307968 0 0 BPI 671 broad.mit.edu 37 20 36938957 36938957 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:36938957G>A uc002xib.2 + 3 513 c.451G>A c.(451-453)Ggc>Agc p.G151S NM_001725 NP_001716 P17213 BPI_HUMAN Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA. 151 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TCTGAAGCTGGGCAGTAACCC 0.512000 51 6 0 0 0.00116845 0 0 KIF5A 3798 broad.mit.edu 37 12 57975679 57975679 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:57975679G>A uc001sor.1 + 25 3144 c.2936G>A c.(2935-2937)gGa>gAa p.G979E KIF5A_uc010srr.1_Missense_Mutation_p.G890E NM_004984 NP_004975 Q12840 KIF5A_HUMAN Homo sapiens kinesin family member 5A (KIF5A), mRNA. 979 Globular. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 ACCAGCAGTGGAGCCACATCT 0.552000 81 11 0 0 0.00136819 0 0 PAX1 5075 broad.mit.edu 37 20 21689274 21689274 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:21689274C>T uc002wsj.2 + 2 1049 c.995C>T c.(994-996)cCc>cTc p.P332L PAX1_uc010zsl.2_Missense_Mutation_p.P332L|PAX1_uc010zsm.2_Missense_Mutation_p.P308L NM_006192 NP_006183 P15863 PAX1_HUMAN Homo sapiens paired box 1 (PAX1), mRNA. 332 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 ACGGCCTTCCCCGCCACCCCC 0.602000 87 15 0 0 0.00316338 0 0 ACOX3 8310 broad.mit.edu 37 4 8416051 8416051 + Missense_Mutation SNP G A A rs140131783 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:8416051G>A uc010idk.3 - 4 656 c.511C>T c.(511-513)Cgc>Tgc p.R171C ACOX3_uc003glc.4_Missense_Mutation_p.R171C|ACOX3_uc003gld.4_Missense_Mutation_p.R171C NM_003501 NP_003492 O15254 ACOX3_HUMAN Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA. 171 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 GCAGTTGTGCGAATGGCCTTG 0.463000 104 9 0 0 0.000442599 0 0 COL4A1 1282 broad.mit.edu 37 13 110850836 110850836 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:110850836G>A uc001vqw.4 - 20 1385 c.1263C>T c.(1261-1263)ccC>ccT p.P421P NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 421 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GCTGCCCAGGGGGCCCAGGGG 0.592000 70 6 0 0 0.00307968 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145780997 145780997 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:145780997C>T uc003zds.1 - 4 1098 c.543G>A c.(541-543)aaG>aaA p.K181K ARHGAP39_uc011llk.1_Silent_p.K181K|ARHGAP39_uc003zdt.1_Silent_p.K181K NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 181 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TCTCATAGTCCTTCTCAAGGA 0.478000 147 13 0 0 0.000566183 0 0 TLL2 7093 broad.mit.edu 37 10 98138808 98138808 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:98138808C>T uc001kml.2 - 16 2477 c.2236G>A c.(2236-2238)Gag>Aag p.E746K NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 746 EGF-like 2; calcium-binding (Potential). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TTGACGCACTCATGCTGACAC 0.562000 121 24 0 0 0.000720815 0 0 BAIAP2L2 80115 broad.mit.edu 37 22 38494424 38494424 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:38494424G>A uc003auw.3 - 4 486 c.342C>T c.(340-342)ttC>ttT p.F114F NM_025045 NP_079321 Q6UXY1 BI2L2_HUMAN Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA. 114 IMD. filopodium assembly|signal transduction SH3 domain binding|cytoskeletal adaptor activity large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 8 Melanoma(58;0.045) TCACTTTGATGAACTGCATGT 0.597000 OREG0026556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 12 0 0 0.00316338 0 0 C19orf75 284369 broad.mit.edu 37 19 51768682 51768682 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:51768682C>T uc002pwb.1 + 2 464 c.83C>T c.(82-84)tCc>tTc p.S28F C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron NM_173635 NP_775906 Q8N7X8 CS075_HUMAN Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA. 28 integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1) 18 TGCAGCTGTTCCTTCCATGGG 0.582000 86 9 0 0 0.000673444 0 0 AEBP2 121536 broad.mit.edu 37 12 19665357 19665357 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:19665357C>T uc001ref.2 + 5 1351 c.1325C>T c.(1324-1326)tCt>tTt p.S442F AEBP2_uc001ree.2_Missense_Mutation_p.S442F|AEBP2_uc001reg.1_Missense_Mutation_p.S213F NM_001114176 NP_001107648 Q6ZN18 AEBP2_HUMAN Homo sapiens AE binding protein 2 (AEBP2), transcript variant 2, mRNA. 442 Interaction with SUZ12. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) AAAGAAGATTCTGGGAAGATC 0.264000 9 3 0 0 6.4e-05 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559889 44559889 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:44559889C>T uc002lcr.1 - 0 2100 c.1747G>A c.(1747-1749)Gaa>Aaa p.E583K KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 583 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTCCGTAATTCGTCTGTCTCT 0.517000 72 6 0 0 0.00116845 0 0 NUP205 23165 broad.mit.edu 37 7 135261109 135261109 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:135261109C>T uc003vsw.3 + 3 466 c.435C>T c.(433-435)tcC>tcT p.S145S NUP205_uc011kqa.1_Non-coding_Transcript NM_015135 NP_055950 Q92621 NU205_HUMAN Homo sapiens nucleoporin 205kDa (NUP205), mRNA. 145 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TTGCGAATTCCTTGAAAGCCT 0.428000 90 7 0 0 0.00307968 0 0 POLR1A 25885 broad.mit.edu 37 2 86255069 86255069 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:86255069G>A uc002sqs.3 - 32 5380 c.5001C>T c.(4999-5001)tcC>tcT p.S1667S POLR1A_uc010ytb.2_Silent_p.S1033S NM_015425 NP_056240 O95602 RPA1_HUMAN Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA. 1667 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GCTGTAGCGGGGAAGAGTTTG 0.552000 97 14 0 0 0.00400662 0 0 ABCC11 85320 broad.mit.edu 37 16 48244950 48244950 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:48244950C>T uc002eff.1 - 9 1867 c.1517G>A c.(1516-1518)gGg>gAg p.G506E ABCC11_uc002efg.1_Missense_Mutation_p.G506E|ABCC11_uc002efh.1_Missense_Mutation_p.G506E|ABCC11_uc010vgk.1_Non-coding_Transcript NM_033151 NP_149163 Q96J66 ABCCB_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA. 506 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCTGGTCATCCCCTCAGAAGC 0.597000 59 12 0 0 0.00136819 0 0 PDILT 204474 broad.mit.edu 37 16 20384393 20384393 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:20384393C>T uc002dhc.1 - 5 956 c.733G>A c.(733-735)Gaa>Aaa p.E245K NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 245 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 CGATTGAGTTCCTGTTTGTTG 0.423000 108 16 0 0 0.00121646 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21054371 21054371 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:21054371C>T uc010sil.2 + 12 1900 c.1835C>T c.(1834-1836)gCt>gTt p.A612V SLCO1B3_uc001rek.3_Missense_Mutation_p.A612V|SLCO1B3_uc001rel.3_Missense_Mutation_p.A612V|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 612 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) GCACAAGGGGCTTGTAGGATA 0.358000 100 14 0 0 0.00244969 0 0 CLN5 1203 broad.mit.edu 37 13 77570195 77570195 + Missense_Mutation SNP T A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:77570195T>A uc001vkc.3 + 2 673 c.645T>A c.(643-645)ttT>ttA p.F215L NM_006493 NP_006484 O75503 CLN5_HUMAN Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA. 166 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding p.C214F(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) CTGCCTGCTTTTTTGAGGGAA 0.403000 124 13 0 0 0.00400662 0 0 RGS5 8490 broad.mit.edu 37 1 163131767 163131767 + Splice_Site SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:163131767C>T uc001gcn.3 - 3 494 c.156_splice c.e3-1 p.K52_splice RGS5_uc021pdu.1_Splice_Site|RGS5_uc021pdt.1_Splice_Site_p.K52_splice|RGS5_uc009wvb.3_Intron NM_003617 NP_003608 O15539 RGS5_HUMAN Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA. 52 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) CAGCGAGGTTCTACATCAATA 0.423000 68 5 0 0 0.00116845 0 0 ASXL3 80816 broad.mit.edu 37 18 31325349 31325349 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:31325349G>A uc010dmg.1 + 11 5592 c.5537G>A c.(5536-5538)gGa>gAa p.G1846E ASXL3_uc002kxq.2_Missense_Mutation_p.G1553E NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1846 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGTGAACCAGGAAAATTGTTG 0.478000 281 37 0 0 0.00128727 0 0 GLYAT 10249 broad.mit.edu 37 11 58491913 58491913 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:58491913C>T uc001nnb.3 - 1 212 c.57G>A c.(55-57)agG>agA p.R19R GLYAT_uc001nnc.3_Silent_p.R19R NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 19 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GGAGGCTCTTCCTCAAGGATT 0.438000 65 15 0 0 0.00074312 0 0 WDR96 80217 broad.mit.edu 37 10 105893468 105893468 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:105893468C>T uc001kxw.3 - 34 4622 c.4506G>A c.(4504-4506)tgG>tgA p.W1502* WDR96_uc009xxq.3_Nonsense_Mutation_p.W781* NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 1502 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCTTATGTTCCCACTCAATCT 0.338000 50 11 0 0 0.000673444 0 0 KCNV1 27012 broad.mit.edu 37 8 110984919 110984919 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:110984919C>T uc003ynr.4 - 1 1363 c.559G>A c.(559-561)Gga>Aga p.G187R KCNV1_uc010mcw.3_Missense_Mutation_p.G187R NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA. 187 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity p.Q186K(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GGACAAGGTCCTTGGGAGAAG 0.468000 87 16 0 0 0.00316338 0 0 SAMD3 154075 broad.mit.edu 37 6 130465700 130465700 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:130465700C>T uc003qbw.3 - 11 1856 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K SAMD3_uc003qbx.3_Missense_Mutation_p.E510K NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA. 510 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) ACTTCGTTTTCCTTTTCTTTC 0.373000 57 6 0 0 0.00116845 0 0 A1CF 29974 broad.mit.edu 37 10 52575824 52575824 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:52575824G>A uc001jjj.3 - 8 1271 c.1083C>T c.(1081-1083)ttC>ttT p.F361F A1CF_uc010qho.2_Silent_p.F369F|A1CF_uc010qhn.2_Silent_p.F369F|A1CF_uc009xov.3_Silent_p.F361F|A1CF_uc001jji.3_Silent_p.F361F|A1CF_uc001jjh.3_Silent_p.F369F NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA. 361 Required for nuclear localization. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TGGTGGCTGGGAAATGAAGAC 0.488000 60 18 0 0 0.000958276 0 0 ITGA5 3678 broad.mit.edu 37 12 54797093 54797093 + Nonsense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:54797093G>A uc001sga.3 - 17 1860 c.1792C>T c.(1792-1794)Cga>Tga p.R598* NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 598 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 AGTTTGTCTCGAAATTCTGAC 0.572000 164 20 0 0 0.00229938 0 0 ATP8B4 79895 broad.mit.edu 37 15 50158607 50158607 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:50158607G>A uc001zxu.3 - 25 3244 c.3102C>T c.(3100-3102)tcC>tcT p.S1034S ATP8B4_uc010ber.3_Silent_p.S907S|ATP8B4_uc010ufd.2_Silent_p.S844S|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Silent_p.S37S NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 1034 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TAAATAAAATGGAGAAATAAA 0.393000 41 7 0 0 0.00198382 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131796599 131796599 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:131796599C>T uc002tsa.1 + 5 1260 c.741C>T c.(739-741)ttC>ttT p.F247F ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Silent_p.F247F|ARHGEF4_uc010fmx.1_Silent_p.F247F|ARHGEF4_uc002tsc.1_5'Flank NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA. 247 SH3. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane Rac guanyl-nucleotide exchange factor activity|protein domain specific binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CAGCCAGCTTCGTTCGGGTAT 0.577000 21 5 0 0 0.000602214 0 0 GABPB2 126626 broad.mit.edu 37 1 151079544 151079544 + Silent SNP C T T rs139254162 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:151079544C>T uc001ewr.2 + 6 1099 c.768C>T c.(766-768)tcC>tcT p.S256S GABPB2_uc001ewt.2_Silent_p.S117S NM_144618 NP_653219 Q8TAK5 GABP2_HUMAN Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA. 256 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) AAGGAAATTCCGTTGACTCAT 0.393000 75 7 0 0 0.000673444 0 0 UBR4 23352 broad.mit.edu 37 1 19430658 19430658 + Missense_Mutation SNP C A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:19430658C>A uc001bbi.3 - 86 12825 c.12821G>T c.(12820-12822)cGg>cTg p.R4274L UBR4_uc010ocw.2_5'Flank|UBR4_uc001bbg.3_5'UTR|UBR4_uc001bbh.3_5'UTR NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 4274 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CACCAGCTTCCGCAAGCACAG 0.532000 94 8 0.000274275 0.000804867 0.000274275 1 0 AGER 177 broad.mit.edu 37 6 32151332 32151332 + Splice_Site SNP G T T rs142731923 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:32151332G>T uc003oal.2 - 3 455 c.355_splice c.e3+1 p.Q119_splice AGER_uc021yvm.1_Splice_Site_p.T14_splice|AGER_uc021yvn.1_Splice_Site_p.Q18_splice|AGER_uc010jtw.2_Splice_Site|AGER_uc021yvp.1_Intron|AGER_uc021yvq.1_Splice_Site_p.Q18_splice|AGER_uc011dpn.2_Splice_Site_p.Q18_splice|AGER_uc011dpm.2_Splice_Site_p.Q18_splice|AGER_uc003oap.2_Splice_Site_p.Q119_splice|AGER_uc021yvr.1_Splice_Site_p.Q119_splice|AGER_uc003oam.2_Intron|AGER_uc003oau.2_Splice_Site_p.Q119_splice|AGER_uc003oas.2_Splice_Site_p.Q119_splice|AGER_uc010jtv.2_Splice_Site_p.Q119_splice|AGER_uc003oar.3_Splice_Site_p.Q18_splice|AGER_uc003oaq.2_Splice_Site_p.Q105_splice|AGER_uc003oat.2_Splice_Site_p.Q119_splice|AGER_uc003oan.2_Splice_Site_p.Q105_splice|AGER_uc011dpo.2_Splice_Site_p.T14_splice|AGER_uc003oao.2_Splice_Site|AGER_uc021yvo.1_Splice_Site_p.T14_splice|AGER_uc011dpp.2_Splice_Site_p.Q150_splice|AGER_uc011dpq.2_Splice_Site_p.Q150_splice|AGER_uc011dpr.2_Splice_Site_p.Q150_splice|AGER_uc011dps.2_Missense_Mutation_p.R150S NM_001136 NP_001127 Q15109 RAGE_HUMAN Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA. 119 cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity p.Q119K(1) breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 GAATTCTTACGGTAGACACGG 0.557000 380 14 0.00244969 0.00715462 0.00244969 1 0 C4BPB 725 broad.mit.edu 37 1 207273143 207273143 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:207273143C>T uc009xcd.3 + 6 1101 c.781C>T c.(781-783)Cag>Tag p.Q261* C4BPB_uc001hfi.3_Nonsense_Mutation_p.Q209*|C4BPB_uc001hfj.3_Nonsense_Mutation_p.Q210*|C4BPB_uc001hfl.3_Nonsense_Mutation_p.Q210*|C4BPB_uc001hfk.3_Nonsense_Mutation_p.Q209*|C4BPB_uc001hfm.3_Nonsense_Mutation_p.Q210* NM_001017366 NP_001017366 P20851 C4BPB_HUMAN Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA. 210 blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 GCTTGCCTTTCAGGAGAGTAA 0.418000 80 10 0 0 0.000673444 0 0 STK36 27148 broad.mit.edu 37 2 219563458 219563458 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:219563458C>T uc002viu.3 + 25 3470 c.3191C>T c.(3190-3192)tCg>tTg p.S1064L STK36_uc002viv.3_Missense_Mutation_p.S1043L|STK36_uc002vix.3_Missense_Mutation_p.S109L NM_015690 NP_056505 Q9NRP7 STK36_HUMAN Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA. 1064 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) ACCATCGTCTCGTTTCTCTCA 0.582000 173 17 0 0 0.00152264 0 0 IQGAP2 10788 broad.mit.edu 37 5 75979727 75979727 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:75979727G>A uc003kek.3 + 29 4112 c.3890G>A c.(3889-3891)cGa>cAa p.R1297Q IQGAP2_uc011csv.2_Missense_Mutation_p.R793Q|IQGAP2_uc003kel.3_Missense_Mutation_p.R793Q|IQGAP2_uc010izw.1_5'UTR NM_006633 NP_006624 Q13576 IQGA2_HUMAN Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA. 1297 small GTPase mediated signal transduction actin cytoskeleton GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ATAGATAGCCGAAGCCTCATG 0.388000 35 4 0 0 0.000602214 0 0 CEACAM8 1088 broad.mit.edu 37 19 43097973 43097973 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43097973C>T uc002oud.2 - 1 246 c.144G>A c.(142-144)ggG>ggA p.G48G AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA. 48 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) GAACCTCCTTCCCCTCTGCAG 0.537000 140 15 0 0 0.00121646 0 0 ATP8A2 51761 broad.mit.edu 37 13 26127989 26127990 + Missense_Mutation DNP TC AT AT TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:26127989_26127990TC>AT uc001uqk.3 + 11 1258_1259 c.1116_1117TC>AT c.(1114-1119)aatctt>aaATtt p.372_373NL>KF ATP8A2_uc010tdi.2_Missense_Mutation_p.332_333NL>KF|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.332_333NL>KF NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA. 332 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TATACAACAATCTTATTCCCAT 0.391000 103 12 0 0 6.4e-05 0 0 FAM217A 222826 broad.mit.edu 37 6 4069899 4069899 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:4069899C>T uc003mvx.3 - 6 964 c.558G>A c.(556-558)tgG>tgA p.W186* FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Nonsense_Mutation_p.W123* NM_173563 NP_775834 Q8IXS0 CF146_HUMAN Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA. 186 GTTTCAAATTCCAATTTGGAG 0.318000 73 6 0 0 0.00198382 0 0 GLRB 2743 broad.mit.edu 37 4 158057783 158057783 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:158057783C>T uc003ipj.2 + 4 662 c.460C>T c.(460-462)Cat>Tat p.H154Y GLRB_uc021xtp.1_Missense_Mutation_p.H154Y|GLRB_uc021xtq.1_Missense_Mutation_p.H154Y NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 154 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity p.H154Y(2) central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TGCCAATTTTCATGATGTGAC 0.353000 105 7 0 0 0.000274275 0 0 CLDN16 10686 broad.mit.edu 37 3 190120204 190120204 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:190120204G>A uc003fsi.3 + 1 651 c.403G>A c.(403-405)Gat>Aat p.D135N CLDN16_uc010hze.3_Intron NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN Homo sapiens claudin 16 (CLDN16), mRNA. 135 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) TGATGAGTACGATTCCATACT 0.493000 117 21 0 0 0.00229938 0 0 PSG5 5673 broad.mit.edu 37 19 43680107 43680107 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43680107C>T uc002ovu.3 - 2 755 c.624G>A c.(622-624)acG>acA p.T208T PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.T208T NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 208 Ig-like C2-type 1. 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) TTTCATTTCTCGTGACACTGG 0.498000 133 20 0 0 0.00332997 0 0 C1orf106 55765 broad.mit.edu 37 1 200880682 200880682 + Missense_Mutation SNP C T T rs145738054 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:200880682C>T uc001gvo.3 + 8 1358 c.1316C>T c.(1315-1317)cCc>cTc p.P439L C1orf106_uc010ppm.2_Missense_Mutation_p.P354L NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 439 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 TCCTGCTTTCCCGCGACCAAG 0.687000 230 25 0 0 0.00395357 0 0 NYAP2 57624 broad.mit.edu 37 2 226447182 226447182 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:226447182C>T uc002voe.2 + 3 1224 c.1049C>T c.(1048-1050)tCc>tTc p.S350F NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.S120F NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 350 Pro-rich. TCCCCCAACTCCGACGAGTCC 0.642000 24 4 0 0 0.00024832 0 0 PDK4 5166 broad.mit.edu 37 7 95222230 95222230 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:95222230C>T uc003uoa.3 - 3 691 c.371G>A c.(370-372)cGa>cAa p.R124Q PDK4_uc003unz.3_5'Flank NM_002612 NP_002603 Q16654 PDK4_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA. 124 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) GTGTCTATTTCGAACTTTGAT 0.348000 89 9 0 0 0.00136819 0 0 CDH6 1004 broad.mit.edu 37 5 31317869 31317869 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:31317869G>A uc003jhe.2 + 10 2080 c.1720G>A c.(1720-1722)Gac>Aac p.D574N CDH6_uc003jhd.2_Missense_Mutation_p.D574N NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 574 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTCAGACAACGACTACCCAGT 0.527000 35 6 0 0 0.00116845 0 0 DSP 1832 broad.mit.edu 37 6 7583007 7583007 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:7583007C>T uc003mxp.1 + 23 5791 c.5512C>T c.(5512-5514)Cgt>Tgt p.R1838C DSP_uc003mxq.1_Missense_Mutation_p.R1239C|DSP_uc021yle.1_Missense_Mutation_p.R1395C NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1838 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.R1838C(2) biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGAGCTGAATCGTGCAAAATC 0.483000 161 17 0 0 0.000958276 0 0 TTLL6 284076 broad.mit.edu 37 17 46847099 46847099 + Missense_Mutation SNP T G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:46847099T>G uc021tzm.1 - 13 2436 c.2401A>C c.(2401-2403)Aac>Cac p.N801H TTLL6_uc002iob.3_Missense_Mutation_p.N494H|TTLL6_uc010dbi.3_Intron|TTLL6_uc002ioc.3_Missense_Mutation_p.N554H|TTLL6_uc002iod.3_Intron NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA. 753 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity p.N479D(1) endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CGTGACAGGTTATTCATCCCC 0.522000 70 18 0 0 0.000958276 0 0 MYH8 4626 broad.mit.edu 37 17 10304036 10304036 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10304036C>T uc002gmm.2 - 26 3501 c.3406G>A c.(3406-3408)Gag>Aag p.E1136K AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1136 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGCTGCTTCTCCGCTTTGGCT 0.552000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 82 7 0 0 0.000274275 0 0 ZBTB5 9925 broad.mit.edu 37 9 37440577 37440577 + Nonsense_Mutation SNP T A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:37440577T>A uc022bgv.1 - 0 1972 c.1972A>T c.(1972-1974)Aag>Tag p.K658* ZBTB5_uc003zzx.3_Nonsense_Mutation_p.K658* NM_014872 NP_055687 O15062 ZBTB5_HUMAN Homo sapiens zinc finger and BTB domain containing 5 (ZBTB5), mRNA. 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) TTTGAGTGCTTATACAGGTGG 0.507000 63 8 0 0 0.000274275 0 0 NOS1AP 9722 broad.mit.edu 37 1 162325113 162325113 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:162325113G>A uc001gbv.2 + 6 1119 c.732G>A c.(730-732)ggG>ggA p.G244G NOS1AP_uc010pkr.1_Silent_p.G239G|NOS1AP_uc001gbw.2_Silent_p.G239G|NOS1AP_uc010pks.1_Non-coding_Transcript NM_014697 NP_055512 O75052 CAPON_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA. 244 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity PDZ domain binding|nitric-oxide synthase binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) ATGCTGTAGGGAAGGAAGGAG 0.557000 143 8 0 0 0.000442599 0 0 RARB 5915 broad.mit.edu 37 3 25635173 25635173 + Silent SNP C G G rs114613844 by1000genomes TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:25635173C>G uc011awl.2 + 5 1053 c.987C>G c.(985-987)ctC>ctG p.L329L RARB_uc003cdi.2_Silent_p.L210L|RARB_uc003cdh.3_Silent_p.L322L NM_016152 NP_057236 P10826 RARB_HUMAN Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA. 329 Ligand-binding. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) CAGGCCTTCTCAGTGCCATCT 0.428000 40 13 0 0 0.00316338 0 0 MUC16 94025 broad.mit.edu 37 19 9089598 9089598 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9089598C>T uc002mkp.3 - 0 2421 c.2217G>A c.(2215-2217)gcG>gcA p.A739A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 739 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A739T(1) 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 ATGTGCTGGTCGCTGACACTT 0.493000 113 19 0 0 0.00229938 0 0 SHANK2 22941 broad.mit.edu 37 11 70333016 70333016 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:70333016C>T uc001oqc.3 - 20 3296 c.3184G>A c.(3184-3186)Gag>Aag p.E1062K SHANK2_uc010rqn.2_Missense_Mutation_p.E538K|SHANK2_uc001opz.3_Missense_Mutation_p.E533K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 749 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TCCCCCTCCTCGGGGAACATG 0.677000 46 10 0 0 0.000673444 0 0 CCDC135 84229 broad.mit.edu 37 16 57738800 57738800 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:57738800G>A uc002emi.3 + 5 801 c.712G>A c.(712-714)Gag>Aag p.E238K CCDC135_uc002emj.3_Missense_Mutation_p.E238K|CCDC135_uc002emk.3_Missense_Mutation_p.E173K NM_032269 NP_115645 Q8IY82 CC135_HUMAN Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA. 238 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CATCAAGAAGGAGGAAAAGGT 0.547000 41 6 0 0 0.00198382 0 0 EFCAB6 64800 broad.mit.edu 37 22 44004441 44004441 + Nonsense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:44004441G>A uc003bdy.2 - 21 2916 c.2602C>T c.(2602-2604)Cga>Tga p.R868* EFCAB6_uc003bdz.2_Nonsense_Mutation_p.R716*|EFCAB6_uc010gzi.2_Nonsense_Mutation_p.R716*|EFCAB6_uc010gzj.1_Intron NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 868 EF-hand 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.R868*(2) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TCCCGGCGTCGAAGAATGCCA 0.438000 51 8 0 0 0.000274275 0 0 PTPRK 5796 broad.mit.edu 37 6 128294288 128294288 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:128294288C>T uc003qbk.3 - 28 4512 c.4145G>A c.(4144-4146)cGa>cAa p.R1382Q PTPRK_uc010kfc.3_Missense_Mutation_p.R1389Q|PTPRK_uc003qbj.3_Missense_Mutation_p.R1383Q|PTPRK_uc011ebu.2_Missense_Mutation_p.R1405Q NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 1382 Tyrosine-protein phosphatase 2. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CATGCCACTTCGCCCGCCACC 0.433000 80 21 0 0 0.00229938 0 0 MAN1A1 4121 broad.mit.edu 37 6 119628140 119628140 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:119628140C>T uc003pym.1 - 2 1063 c.621G>A c.(619-621)tgG>tgA p.W207* MAN1A1_uc010kei.2_Nonsense_Mutation_p.W230* NM_005907 NP_005898 P33908 MA1A1_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA. 207 post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TATAATTATTCCAAGCATGTT 0.318000 102 12 0 0 0.00136819 0 0 PLG 5340 broad.mit.edu 37 6 161139449 161139449 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:161139449C>T uc003qtm.4 + 7 1023 c.911C>T c.(910-912)cCt>cTt p.P304L NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 304 Kringle 3. 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 p.T303N(1) 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) GCACAGACCCCTCACACACAT 0.527000 91 9 0 0 0.000274275 0 0 LILRA4 23547 broad.mit.edu 37 19 54849442 54849442 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:54849442G>A uc002qfj.3 - 3 477 c.420C>T c.(418-420)acC>acT p.T140T LILRA4_uc002qfi.3_Silent_p.T74T NM_012276 NP_036408 P59901 LIRA4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA. 140 Ig-like C2-type 2. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CACACCGGAGGGTCACGTTCA 0.567000 57 6 0 0 0.00307968 0 0 ACMSD 130013 broad.mit.edu 37 2 135616903 135616903 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:135616903C>T uc002ttz.3 + 2 242 c.175C>T c.(175-177)Cgt>Tgt p.R59C ACMSD_uc002tua.3_Silent_p.F17F NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA. 59 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) TCCAGAAGTTCGTATTAGAGA 0.418000 72 8 0 0 0.000274275 0 0 A2ML1 144568 broad.mit.edu 37 12 8982357 8982357 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:8982357C>T uc001quz.4 + 3 542 c.444C>T c.(442-444)ttC>ttT p.F148F NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 0 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 ATAGCAACTTCGTTCCAGTGA 0.458000 91 8 0 0 0.00307968 0 0 HSD11B2 3291 broad.mit.edu 37 16 67470268 67470268 + Missense_Mutation SNP C A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:67470268C>A uc002etd.3 + 3 897 c.781C>A c.(781-783)Cag>Aag p.Q261K NM_000196 NP_000187 P80365 DHI2_HUMAN Homo sapiens hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2), mRNA. 261 glucocorticoid biosynthetic process endoplasmic reticulum|microsome breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891) NADH(DB00157) CAGCATCATCCAGCCTGGCTG 0.607000 86 8 0.00307968 0.00895213 0.00307968 1 0 TET1 80312 broad.mit.edu 37 10 70411639 70411639 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:70411639C>T uc001jok.4 + 4 4818 c.4313C>T c.(4312-4314)aCa>aTa p.T1438I NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 1438 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CCATATTATACACACCTTGGG 0.423000 156 42 0 0 0.00361006 0 0 ANKRD52 283373 broad.mit.edu 37 12 56647912 56647912 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:56647912G>A uc001skm.4 - 7 935 c.845C>T c.(844-846)tCc>tTc p.S282F ANKRD52_uc001skn.1_Non-coding_Transcript NM_173595 NP_775866 Q8NB46 ANR52_HUMAN Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA. 282 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 GCCATTGGTGGAGACTGCAGC 0.562000 87 8 0 0 0.000274275 0 0 abParts 0 broad.mit.edu 37 2 90259989 90259989 + RNA SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:90259989C>T uc010yts.2 + 40 c.5257C>T Parts of antibodies, mostly variable regions. CAGTCTCCATCCTTACTCTCT 0.423000 32 9 0 0 0.000442599 0 0 DNAH5 1767 broad.mit.edu 37 5 13714630 13714630 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:13714630G>A uc003jfd.2 - 74 13051 c.13009C>T c.(13009-13011)Cta>Tta p.L4337L DNAH5_uc003jfc.2_Silent_p.L505L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4337 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGGATGCCTAGGATGGTGTCC 0.612000 Kartagener syndrome 75 9 0 0 0.000274275 0 0 XDH 7498 broad.mit.edu 37 2 31621540 31621540 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:31621540G>A uc002rnv.1 - 4 411 c.332C>T c.(331-333)tCc>tTc p.S111F NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 111 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCCGCACTGGGAGCCGTGGCT 0.557000 125 14 0 0 0.00074312 0 0 LRRN1 57633 broad.mit.edu 37 3 3887642 3887642 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:3887642C>T uc003bpt.4 + 1 2078 c.1317C>T c.(1315-1317)atC>atT p.I439I SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.I439I NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 439 Ig-like C2-type. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ACGTGGATATCGGCACGACGG 0.468000 54 8 0 0 0.00307968 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430974 37430974 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:37430974C>T uc021ppc.1 + 6 1080 c.981C>T c.(979-981)atC>atT p.I327I ANKRD30A_uc001iza.1_Silent_p.I327I NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 383 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.I327I(2)|p.I327N(1)|p.K326N(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTAGGAAGATCGCATGGGAGA 0.433000 88 12 0 0 0.00136819 0 0 MYH15 22989 broad.mit.edu 37 3 108147413 108147413 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:108147413C>T uc003dxa.1 - 27 3745 c.3688G>A c.(3688-3690)Gaa>Aaa p.E1230K NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1230 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTGTCTTTTTCCAGTTTCTGC 0.488000 121 12 0 0 0.00244969 0 0 KCNQ3 3786 broad.mit.edu 37 8 133192440 133192440 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:133192440C>T uc003ytj.3 - 3 966 c.741G>A c.(739-741)tgG>tgA p.W247* KCNQ3_uc003yti.3_Nonsense_Mutation_p.W127*|KCNQ3_uc010mdt.3_Nonsense_Mutation_p.W247* NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 247 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.W247*(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCAGAAGCTTCCAGGTGCCAC 0.597000 113 7 0 0 0.00307968 0 0 LRP2 4036 broad.mit.edu 37 2 170097742 170097742 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:170097742G>A uc002ues.3 - 24 4014 c.3801C>T c.(3799-3801)gtC>gtT p.V1267V LRP2_uc010zdf.1_Silent_p.V1130V NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 1267 LDL-receptor class A 13. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity 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) AAGTCTTGGGGACACAGGCAT 0.502000 90 19 0 0 0.00152264 0 0 MARVELD2 153562 broad.mit.edu 37 5 68716027 68716027 + Missense_Mutation SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:68716027T>C uc003jwq.3 + 1 889 c.815T>C c.(814-816)gTt>gCt p.V272A MARVELD2_uc010ixf.3_Missense_Mutation_p.V272A|MARVELD2_uc003jws.1_Intron NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA. 272 MARVEL. sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) ATTATTCTGGTTCTTGGCATG 0.433000 97 17 0 0 0.00074312 0 0 NLRP9 338321 broad.mit.edu 37 19 56241279 56241279 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:56241279C>T uc002qly.3 - 2 1940 c.1912G>A c.(1912-1914)Gaa>Aaa p.E638K NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 638 cytoplasm ATP binding p.M637I(1) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CTGGTATTTTCCATGTCTAAA 0.423000 87 17 0 0 0.000566183 0 0 D21847 0 broad.mit.edu 37 14 22090529 22090529 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:22090529G>A uc001wbi.2 + 1 181 c.168G>A c.(166-168)ggG>ggA p.G56G Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133. AGACATCTGGGTTTTATGGGC 0.498000 101 14 0 0 0.000566183 0 0 AOX1 316 broad.mit.edu 37 2 201485923 201485923 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:201485923C>T uc002uvx.3 + 17 2056 c.1955C>T c.(1954-1956)tCc>tTc p.S652F AOX1_uc010zhf.2_Missense_Mutation_p.S208F|AOX1_uc010fsu.3_Missense_Mutation_p.S18F NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 652 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GACGTCAACTCCTTCTGCTTT 0.413000 99 13 0 0 0.00136819 0 0 CEACAM20 125931 broad.mit.edu 37 19 45015211 45015211 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:45015211C>T uc010ejn.1 - 11 1630 c.1614G>A c.(1612-1614)acG>acA p.T538T CEACAM20_uc010ejo.1_Silent_p.T526T|CEACAM20_uc010ejp.1_Silent_p.T445T|CEACAM20_uc010ejq.1_Silent_p.T433T NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 538 integral to membrane p.T537M(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) AAGGCAGCTTCGTCTGCAAGT 0.532000 270 32 0 0 0.00283554 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32714163 32714163 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:32714163C>T uc003obx.3 + 3 818 c.760C>T c.(760-762)Ctc>Ttc p.L254F NM_020056 NP_064440 P01906 DQA2_HUMAN Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA. 254 T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACACCAAGGGCTCTTATGAAT 0.532000 124 10 0 0 0.000673444 0 0 UNC13A 23025 broad.mit.edu 37 19 17735706 17735706 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:17735706C>T uc021uqk.1 - 34 4168 c.4126G>A c.(4126-4128)Gag>Aag p.E1376K NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 1377 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TTCCACAGCTCCTTCAGCACT 0.602000 43 14 0 0 0.00316338 0 0 UBE2L6 9246 broad.mit.edu 37 11 57319895 57319895 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:57319895G>A uc001nkn.2 - 3 494 c.398C>T c.(397-399)cCg>cTg p.P133L UBE2L6_uc001nko.2_Missense_Mutation_p.P67L NM_004223 NP_937826 O14933 UB2L6_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2L 6 (UBE2L6), transcript variant 1, mRNA. 133 negative regulation of type I interferon production cytosol protein binding|ubiquitin-protein ligase activity p.P133L(2) large_intestine(1)|lung(3)|ovary(1) 5 GAACAGCTCCGGATTCTGTGT 0.577000 196 14 0 0 0.00316338 0 0 ROPN1B 152015 broad.mit.edu 37 3 125690939 125690939 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:125690939G>A uc003eih.3 + 1 270 c.42G>A c.(40-42)ctG>ctA p.L14L ROPN1B_uc010hsb.3_Silent_p.L14L|ROPN1B_uc011bkg.2_Silent_p.L14L NM_001012337 NP_001012337 Q9BZX4 ROP1B_HUMAN Homo sapiens rhophilin associated tail protein 1B (ROPN1B), mRNA. 14 RIIa. Rho protein signal transduction|acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(114;0.151) CGCCGGAGCTGCCGAAAATGC 0.517000 88 13 0 0 0.00316338 0 0 TIMM21 29090 broad.mit.edu 37 18 71816207 71816207 + Missense_Mutation SNP G C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:71816207G>C uc010dqr.1 + 0 462 c.164G>C c.(163-165)aGa>aCa p.R55T FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank NM_014177 NP_054896 Q9BVV7 TI21L_HUMAN Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA. 55 protein transport|transmembrane transport integral to membrane|mitochondrial membrane p.R55T(1) CTGCGACCTAGATGTATTCTT 0.493000 201 15 0 0 0.000566183 0 0 MTRR 4552 broad.mit.edu 37 5 7891493 7891493 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:7891493C>T uc003jed.3 + 9 1447 c.1417C>T c.(1417-1419)Cct>Tct p.P473S MTRR_uc003jee.4_Missense_Mutation_p.P446S|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA. 473 FAD-binding FR-type. methionine biosynthetic process cytosol FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) AGAACATCTTCCTAAACTTCA 0.289000 82 8 0 0 0.000442599 0 0 METTL21D 79609 broad.mit.edu 37 14 50583133 50583133 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:50583133G>A uc001wxo.1 - 0 165 c.138C>T c.(136-138)gcC>gcT p.A46A METTL21D_uc001wxn.1_5'Flank|METTL21D_uc001wxp.1_Silent_p.A46A|METTL21D_uc001wxq.1_Non-coding_Transcript NM_024558 NP_078834 Q9H867 MT21D_HUMAN Homo sapiens methyltransferase like 21D (METTL21D), transcript variant 1, mRNA. 46 methyltransferase activity kidney(1)|lung(1)|urinary_tract(1) 3 AAAGGACAATGGCAGCGTCCC 0.617000 31 5 0 0 0.000602214 0 0 DNTT 1791 broad.mit.edu 37 10 98064354 98064354 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:98064354G>A uc001kmf.3 + 0 270 c.100G>A c.(100-102)Gat>Aat p.D34N DNTT_uc001kmg.3_Missense_Mutation_p.D34N NM_004088 NP_004079 P04053 TDT_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA. 34 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) CAAATTTCAAGATTTGGTCGT 0.542000 54 15 0 0 0.00316338 0 0 DCTN5 84516 broad.mit.edu 37 16 23677033 23677033 + Silent SNP C A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:23677033C>A uc002dly.2 + 4 612 c.435C>A c.(433-435)gtC>gtA p.V145V DCTN5_uc021tfi.1_Silent_p.V103V|DCTN5_uc021tfj.1_Silent_p.V145V NM_032486 NP_115875 Q9BTE1 DCTN5_HUMAN Homo sapiens dynactin 5 (p25) (DCTN5), transcript variant 1, mRNA. 145 centrosome transferase activity endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(48;0.0156) CATTCACTGTCTTCTCAGGCT 0.403000 93 6 0.000274275 0.000804867 0.000274275 1 0 ZBTB7C 201501 broad.mit.edu 37 18 45567330 45567330 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:45567330G>A uc010dnv.3 - 2 651 c.215C>T c.(214-216)tCc>tTc p.S72F ZBTB7C_uc002ldb.3_Missense_Mutation_p.S50F|ZBTB7C_uc010dnu.3_Missense_Mutation_p.S59F|ZBTB7C_uc010dnw.3_Missense_Mutation_p.S50F|ZBTB7C_uc010dnx.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dny.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dnz.1_Missense_Mutation_p.S72F|ZBTB7C_uc010doi.1_Missense_Mutation_p.S50F|ZBTB7C_uc010doj.1_Missense_Mutation_p.S59F|ZBTB7C_uc010dok.1_Missense_Mutation_p.S99F|ZBTB7C_uc010dol.1_Missense_Mutation_p.S59F|ZBTB7C_uc010doa.1_Missense_Mutation_p.S72F|ZBTB7C_uc010dob.1_Missense_Mutation_p.S50F|ZBTB7C_uc010doc.1_Missense_Mutation_p.S59F|ZBTB7C_uc010dod.1_Missense_Mutation_p.S72F|ZBTB7C_uc010doe.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dof.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dog.1_Missense_Mutation_p.S50F|ZBTB7C_uc010doh.1_Missense_Mutation_p.S59F|ZBTB7C_uc010dom.1_Missense_Mutation_p.S59F|ZBTB7C_uc010don.1_Missense_Mutation_p.S58F|ZBTB7C_uc010dop.1_Missense_Mutation_p.S50F|ZBTB7C_uc010doq.1_Missense_Mutation_p.S59F|ZBTB7C_uc010dor.1_Missense_Mutation_p.S72F|ZBTB7C_uc010dos.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dot.1_Missense_Mutation_p.S50F|ZBTB7C_uc010doo.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dou.1_Missense_Mutation_p.S59F NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA. 50 BTB. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AGCCAGGACGGAGCGGTGGGT 0.597000 65 5 0 0 0.00198382 0 0 PLXND1 23129 broad.mit.edu 37 3 129304874 129304874 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:129304874G>A uc003emx.2 - 4 1872 c.1772C>T c.(1771-1773)aCc>aTc p.T591I NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 591 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GCTGGCACTGGTCCAGAAATG 0.657000 116 32 0 0 0.00375469 0 0 VPS41 27072 broad.mit.edu 37 7 38812206 38812206 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:38812206G>A uc003tgy.3 - 12 1070 c.1044C>T c.(1042-1044)atC>atT p.I348I VPS41_uc003tgz.3_Silent_p.I323I|VPS41_uc010kxn.3_Silent_p.I259I NM_014396 NP_055211 P49754 VPS41_HUMAN Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA. 348 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TCGGACTCACGATGTAAAAAA 0.428000 26 6 0 0 0.000673444 0 0 DCHS2 54798 broad.mit.edu 37 4 155219058 155219058 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:155219058C>T uc003inw.2 - 17 5043 c.5043G>A c.(5041-5043)aaG>aaA p.K1681K NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 1681 Cadherin 14. 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) TGAAGGAAATCTTTACATCTT 0.453000 44 5 0 0 0.000602214 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T A A rs11554290 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:115256529T>A uc009wgu.3 - 2 436 c.182A>T c.(181-183)cAa>cTa p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 130 32 0 0 0.000953801 0 0 KIRREL2 84063 broad.mit.edu 37 19 36349648 36349648 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:36349648C>T uc002ocb.4 + 3 616 c.404C>T c.(403-405)tCt>tTt p.S135F KIRREL2_uc002obz.4_Missense_Mutation_p.S135F|KIRREL2_uc002oca.4_Missense_Mutation_p.S85F|KIRREL2_uc002ocd.4_Missense_Mutation_p.S132F NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA. 135 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCTCTGTGTCTCTGGTTGCT 0.602000 81 10 0 0 0.000442599 0 0 PKD1L1 168507 broad.mit.edu 37 7 47925346 47925346 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:47925346G>A uc003tny.2 - 17 3177 c.3143C>T c.(3142-3144)tCc>tTc p.S1048F NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1048 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGTCATCAGGGATCCCTTGCT 0.597000 89 8 0 0 0.00307968 0 0 FAM58BP 339521 broad.mit.edu 37 1 200183439 200183439 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:200183439G>A uc009wzi.1 + 0 784 c.748G>A c.(748-750)Gag>Aag p.E250K NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA. 250 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding lung(1) 1 CATAGACACAGAGATCCCCTA 0.537000 103 10 0 0 0.00185496 0 0 IL36B 27177 broad.mit.edu 37 2 113783804 113783804 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:113783804C>T uc002tiq.1 - 4 371 c.267G>A c.(265-267)caG>caA p.Q89Q NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA. 89 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 cttgggagccctgaagctgga 0.463000 41 5 0 0 0.00116845 0 0 PLXNB2 23654 broad.mit.edu 37 22 50718106 50718106 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:50718106G>A uc003bkv.4 - 26 4435 c.4342C>T c.(4342-4344)Ctc>Ttc p.L1448F PLXNB2_uc003bkt.1_Missense_Mutation_p.L240F|PLXNB2_uc003bku.1_Missense_Mutation_p.L433F NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 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) GTGTCGTTGAGAGTGTACTTG 0.622000 124 16 0 0 0.00074312 0 0 DSCAM 1826 broad.mit.edu 37 21 41459101 41459101 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr21:41459101C>T uc002yyq.1 - 21 4416 c.3964G>A c.(3964-3966)Gac>Aac p.D1322N DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1322 Ig-like C2-type 10. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGTTACCTGTCTTTCATCCAT 0.448000 84 7 0 0 0.00307968 0 0 ORC3 23595 broad.mit.edu 37 6 88321922 88321922 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:88321922C>T uc003pmg.3 + 7 931 c.829C>T c.(829-831)Caa>Taa p.Q277* ORC3_uc011dzl.2_Nonsense_Mutation_p.Q277*|ORC3_uc011dzm.2_Nonsense_Mutation_p.Q277*|ORC3_uc011dzn.2_Non-coding_Transcript|ORC3_uc003pmh.3_Nonsense_Mutation_p.Q277*|ORC3_uc011dzp.2_Nonsense_Mutation_p.Q134*|ORC3_uc011dzo.2_Nonsense_Mutation_p.Q134* NM_181837 NP_862820 Q9UBD5 ORC3_HUMAN Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA. 277 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 28 AGAACTGTTCCAATCTTTGTC 0.363000 57 9 0 0 0.000274275 0 0 TRIM65 201292 broad.mit.edu 37 17 73887947 73887947 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:73887947G>A uc002jpx.3 - 4 968 c.932C>T c.(931-933)cCc>cTc p.P311L NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA. 311 intracellular zinc ion binding endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGTGCCAGGGGACCTGGGGC 0.627000 17 5 0 0 0.00198382 0 0 INTS3 65123 broad.mit.edu 37 1 153713833 153713833 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:153713833C>T uc009wom.3 + 3 528 c.307C>T c.(307-309)Caa>Taa p.Q103* INTS3_uc001fct.3_Nonsense_Mutation_p.Q103*|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_5'UTR NM_023015 NP_075391 Q68E01 INT3_HUMAN Homo sapiens integrator complex subunit 3 (INTS3), mRNA. 103 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing SOSS complex|integrator complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGAACCTGCCCAAGCCCAGAA 0.483000 109 11 0 0 0.000673444 0 0 GLDN 342035 broad.mit.edu 37 15 51634223 51634223 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:51634223G>A uc002aba.3 + 0 511 c.342G>A c.(340-342)atG>atA p.M114I GLDN_uc010bez.1_Missense_Mutation_p.M114I NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN Homo sapiens gliomedin (GLDN), mRNA. 114 cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TGCTGATGATGATGACCTACT 0.706000 90 8 0 0 0.000442599 0 0 C8A 731 broad.mit.edu 37 1 57347218 57347218 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:57347218C>T uc001cyo.2 + 4 697 c.565C>T c.(565-567)Cga>Tga p.R189* NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 189 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GAGGGAGCTTCGATATGACTC 0.453000 40 16 0 0 0.000566183 0 0 HCN4 10021 broad.mit.edu 37 15 73635897 73635897 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:73635897G>A uc002avp.3 - 1 2032 c.1038C>T c.(1036-1038)ttC>ttT p.F346F NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA. 346 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGGAGGAAATGAAATCTACCA 0.532000 47 5 0 0 0.000602214 0 0 AK094599 0 broad.mit.edu 37 2 133066857 133066857 + RNA SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:133066857C>T uc002ttk.1 + 1 c.56C>T Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881. TTCCAGAATCCTGCCCTTTCC 0.368000 141 8 0 0 0.000673444 0 0 PARM1 25849 broad.mit.edu 37 4 75938084 75938084 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:75938084C>T uc003hih.2 + 1 746 c.493C>T c.(493-495)Cca>Tca p.P165S NM_015393 NP_056208 Q6UWI2 PARM1_HUMAN Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA. 165 positive regulation of telomerase activity Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane p.P165Q(1) cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 ATCAACCTCACCACCTGAGGT 0.587000 246 19 0 0 0.00278032 0 0 LOC649330 649330 broad.mit.edu 37 1 12907694 12907694 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:12907694C>T uc010obf.2 - 1 675 c.449G>A c.(448-450)gGa>gAa p.G150E LOC649330_uc009vno.2_Missense_Mutation_p.G150E NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 150 nucleic acid binding|nucleotide binding TGAGGTGTTTCCTGATAGACG 0.493000 127 49 0 0 0.00361006 0 0 SYT13 57586 broad.mit.edu 37 11 45274137 45274137 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:45274137G>A uc001myq.2 - 3 807 c.681C>T c.(679-681)ctC>ctT p.L227L SYT13_uc009yku.1_Silent_p.L83L NM_020826 NP_001234916 Q7L8C5 SYT13_HUMAN Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA. 227 C2 1. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CCGCCAGGGGGAGCACCAGGC 0.677000 OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 68 10 0 0 0.000978159 0 0 UNC5D 137970 broad.mit.edu 37 8 35542215 35542215 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:35542215C>T uc003xjr.2 + 5 1195 c.867C>T c.(865-867)gcC>gcT p.A289A UNC5D_uc003xjs.2_Silent_p.A284A|UNC5D_uc003xjt.1_Silent_p.A58A NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 289 TSP type-1 1. apoptosis|axon guidance integral to membrane receptor activity p.M289I(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ATGGTGGGGCCTTTTGTGAGG 0.507000 115 11 0 0 0.00136819 0 0 ZNF385D 79750 broad.mit.edu 37 3 21552450 21552450 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:21552450C>T uc003cce.3 - 3 750 c.342G>A c.(340-342)atG>atA p.M114I ZNF385D_uc010hfb.1_Non-coding_Transcript NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 114 nucleus nucleic acid binding|zinc ion binding p.M114I(2) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GCTTATTTTTCATGGCTTCCA 0.463000 69 20 0 0 0.00152264 0 0 CACNA1E 777 broad.mit.edu 37 1 181725156 181725156 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:181725156G>A uc009wxt.3 + 28 4249 c.4054G>A c.(4054-4056)Gaa>Aaa p.E1352K CACNA1E_uc001gow.3_Missense_Mutation_p.E1352K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1333K|CACNA1E_uc001gox.1_Missense_Mutation_p.E578K NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1352 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GAAGCGCCATGAATTCCACTA 0.498000 37 7 0 0 0.00198382 0 0 SBNO1 55206 broad.mit.edu 37 12 123782562 123782562 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:123782562G>A uc010tap.2 - 29 4002 c.4002C>T c.(4000-4002)atC>atT p.I1334I SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.I1333I|SBNO1_uc010taq.2_Silent_p.I285I NM_001167856 NP_001161328 A3KN83 SBNO1_HUMAN Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA. 1334 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TTAGCCGCACGATCTGCATCT 0.433000 156 20 0 0 0.00188189 0 0 CPN2 1370 broad.mit.edu 37 3 194062184 194062184 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:194062184C>T uc003fts.3 - 1 1338 c.1248G>A c.(1246-1248)cgG>cgA p.R416R CPN2_uc021xix.1_Silent_p.R416R NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 416 LRRCT. protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TGTTCAGGAGCCGATCGGTGT 0.617000 37 5 0 0 0.00116845 0 0 DMBT1 1755 broad.mit.edu 37 10 124402872 124402872 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:124402872C>T uc001lgk.1 + 52 7306 c.7200C>T c.(7198-7200)atC>atT p.I2400I DMBT1_uc001lgl.1_Silent_p.I2390I|DMBT1_uc001lgm.1_Silent_p.I1772I|DMBT1_uc021qaf.1_Silent_p.I2400I|DMBT1_uc021qag.1_Silent_p.I2390I|DMBT1_uc021qah.1_Silent_p.I1772I|DMBT1_uc009xzz.1_Silent_p.I2399I|DMBT1_uc010qtx.1_Silent_p.I1120I|DMBT1_uc009yab.1_Silent_p.I1103I|DMBT1_uc009yac.1_Silent_p.I694I NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2400 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGGTCCCATCCAGCTGCAGA 0.647000 34 13 0 0 0.00244969 0 0 RP1 6101 broad.mit.edu 37 8 55540361 55540361 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:55540361G>A uc003xsd.1 + 3 4067 c.3919G>A c.(3919-3921)Gat>Aat p.D1307N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1307 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) TTCACTTACTGATACTGTGTT 0.428000 102 19 0 0 0.00152264 0 0 PER2 8864 broad.mit.edu 37 2 239165600 239165600 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:239165600G>A uc002vyc.3 - 16 2265 c.2028C>T c.(2026-2028)atC>atT p.I676I PER2_uc010znv.1_Silent_p.I676I NM_022817 NP_073728 O15055 PER2_HUMAN Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA. 676 CSNK1E binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CCACATGGACGATGGTGCTGC 0.557000 OREG0015336 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 113 16 0 0 0.00074312 0 0 GSTA2 2939 broad.mit.edu 37 6 52617667 52617667 + Silent SNP G A A rs142983962 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:52617667G>A uc003pay.3 - 4 549 c.399C>T c.(397-399)ttC>ttT p.F133F NM_000846 NP_000837 P09210 GSTA2_HUMAN Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA. 133 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) CAAAGGCAGGGAAGTAGCGAT 0.443000 263 33 0 0 0.00321405 0 0 THRSP 7069 broad.mit.edu 37 11 77775213 77775213 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:77775213G>A uc021qnu.1 + 0 286 c.286G>A c.(286-288)Gag>Aag p.E96K NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron|THRSP_uc001oyx.3_Missense_Mutation_p.E96K NM_003251 NP_003242 Q92748 THRSP_HUMAN Homo sapiens thyroid hormone responsive (THRSP), mRNA. 96 lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 7 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) CGCAGAGACAGAGGAAGTCGA 0.612000 54 10 0 0 0.000442599 0 0 ASTN1 460 broad.mit.edu 37 1 176915167 176915167 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:176915167C>T uc001glc.3 - 12 2356 c.2144G>A c.(2143-2145)aGc>aAc p.S715N ASTN1_uc001glb.1_Missense_Mutation_p.S715N|ASTN1_uc001gld.1_Missense_Mutation_p.S715N|ASTN1_uc009wwx.1_Missense_Mutation_p.S715N NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 723 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AAGCTCCCTGCTTTCCCCACA 0.537000 94 6 0 0 0.00116845 0 0 EPPK1 83481 broad.mit.edu 37 8 144941990 144941990 + Missense_Mutation SNP C A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:144941990C>A uc003zaa.1 - 0 5445 c.5432G>T c.(5431-5433)cGg>cTg p.R1811L NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1811 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) GATGAGCTCCCGCTTCCTGTC 0.532000 118 7 0.00198382 0.00580084 0.00198382 1 0 PLCE1 51196 broad.mit.edu 37 10 95791744 95791744 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:95791744C>T uc001kjk.3 + 1 1575 c.941C>T c.(940-942)gCt>gTt p.A314V PLCE1_uc010qnx.2_Missense_Mutation_p.A314V NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 314 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GAAGAAGACGCTTTTAAAAGC 0.378000 65 17 0 0 0.000958276 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178822870 178822871 + Missense_Mutation DNP CC TT TT TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:178822870_178822871CC>TT uc001gma.3 - 3 1351_1352 c.875_876GG>AA c.(874-876)ggg>gAA p.G292E RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.G292E|ANGPTL1_uc010pnc.1_Missense_Mutation_p.G214E NM_004673 NP_004664 O95841 ANGL1_HUMAN Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA. 292 Fibrinogen C-terminal. extracellular space receptor binding p.G292E(2) breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 TCATATAAATCCCACTGACCGA 0.376000 90 5 0 0 6.4e-05 0 0 WNK1 65125 broad.mit.edu 37 12 978198 978198 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:978198C>T uc021qss.1 + 8 3949 c.3306C>T c.(3304-3306)ttC>ttT p.F1102F WNK1_uc001qio.4_Intron|WNK1_uc021qst.1_Silent_p.F1187F|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron|WNK1_uc001qiq.3_Silent_p.F401F NM_001184985 NP_001171914 Q9H4A3 WNK1_HUMAN Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA. 848 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCTTCTGTTTCCCCCAAGGAA 0.463000 365 45 0 0 0.00361006 0 0 H3F3C 440093 broad.mit.edu 37 12 31944884 31944884 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:31944884C>T uc001rkr.3 - 0 292 c.217G>A c.(217-219)Gag>Aag p.E73K NM_001013699 NP_001013721 Q6NXT2 H3C_HUMAN Homo sapiens H3 histone, family 3C (H3F3C), mRNA. 73 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 TGCGCGATCTCCCTCACCAAC 0.597000 HNSCC(67;0.2) 85 7 0 0 0.00307968 0 0 ABCC12 94160 broad.mit.edu 37 16 48174784 48174784 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:48174784C>T uc002efc.1 - 3 817 c.471G>A c.(469-471)ggG>ggA p.G157G ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.G157G|ABCC12_uc010vgj.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 157 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CCCAGACTTTCCCAGAGGTCC 0.547000 72 11 0 0 0.000978159 0 0 CEACAM16 388551 broad.mit.edu 37 19 45211152 45211152 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:45211152G>A uc010xxd.2 + 5 1166 c.960G>A c.(958-960)atG>atA p.M320I NM_001039213 NP_001034302 A7LI12 A7LI12_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA. 320 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) TTGCCACGATGATCGTGCCCG 0.657000 132 12 0 0 0.00185496 0 0 SPTLC3 55304 broad.mit.edu 37 20 13029765 13029765 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:13029765G>A uc002wod.1 + 1 579 c.290G>A c.(289-291)aGa>aAa p.R97K SPTLC3_uc002woc.3_Missense_Mutation_p.R97K NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA. 97 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GCTGTGGAAAGAAAAGAACAA 0.428000 38 6 0 0 0.00198382 0 0 CSF1R 1436 broad.mit.edu 37 5 149452977 149452977 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:149452977G>A uc003lrl.3 - 5 1164 c.969C>T c.(967-969)gtC>gtT p.V323V CSF1R_uc011dcd.2_Silent_p.V175V|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.V323V|CSF1R_uc011dce.1_Intron NM_005211 NP_005202 P07333 CSF1R_HUMAN Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA. 323 Ig-like C2-type 4. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CCTCCACCATGACTTTGAGGT 0.552000 172 17 0 0 0.00121646 0 0 ZNF99 7652 broad.mit.edu 37 19 22952096 22952096 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:22952096C>T uc021urt.1 - 1 189 c.34G>A c.(34-36)Gaa>Aaa p.E12K NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGAGCGAATTCTATGGTCACA 0.403000 75 8 0 0 0.000673444 0 0 ZNF229 7772 broad.mit.edu 37 19 44933110 44933110 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:44933110G>A uc002oze.1 - 5 2280 c.1846C>T c.(1846-1848)Ctt>Ttt p.L616F ZNF229_uc010ejk.1_Missense_Mutation_p.L270F|ZNF229_uc010ejl.1_Missense_Mutation_p.L610F NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGATGGATAAGGAGGTCGGAG 0.537000 86 5 0 0 0.00198382 0 0 CCR5 1234 broad.mit.edu 37 3 46414444 46414444 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:46414444G>A uc003cpo.4 + 2 173 c.51G>A c.(49-51)tcG>tcA p.S17S CCR5_uc010hjd.3_Silent_p.S17S|CCR5_uc021wxb.1_Silent_p.S17S NM_001100168 NP_001093638 P51681 CCR5_HUMAN Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA. 17 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) ATTATACATCGGAGCCCTGCC 0.428000 270 19 0 0 0.000958276 0 0 MEP1B 4225 broad.mit.edu 37 18 29790487 29790487 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:29790487G>A uc002kxj.4 + 9 990 c.943G>A c.(943-945)Gat>Aat p.D315N NM_005925 NP_005916 Q16820 MEP1B_HUMAN Homo sapiens meprin A, beta (MEP1B), mRNA. 315 MAM. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.F314F(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CATGCATTTCGATAGCAGCTC 0.408000 40 6 0 0 0.00116845 0 0 AMOT 154796 broad.mit.edu 37 X 112048229 112048229 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:112048229G>A uc004epr.3 - 4 1740 c.1722C>T c.(1720-1722)atC>atT p.I574I AMOT_uc004eps.3_Silent_p.I165I NM_001113490 NP_573572 Q4VCS5 AMOT_HUMAN Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA. 574 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 CCTGATCTCGGATTTCGATGT 0.547000 116 42 0 0 0.00361006 0 0 SEC61A1 29927 broad.mit.edu 37 3 127779007 127779007 + Missense_Mutation SNP G T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:127779007G>T uc003ekb.3 + 5 599 c.415G>T c.(415-417)Gac>Tac p.D139Y SEC61A1_uc003ekc.3_Missense_Mutation_p.D86Y|SEC61A1_uc003ekd.3_Missense_Mutation_p.D19Y NM_013336 NP_037468 P61619 S61A1_HUMAN Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA. 139 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 GATGTATGGGGACCCTTCTGA 0.428000 154 38 5.44703e-19 1.61188e-18 0.00222228 1 0 PDCD11 22984 broad.mit.edu 37 10 105181256 105181256 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:105181256C>T uc001kwy.1 + 16 2516 c.2429C>T c.(2428-2430)aCc>aTc p.T810I NM_014976 NP_055791 Q14690 RRP5_HUMAN Homo sapiens programmed cell death 11 (PDCD11), mRNA. 810 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TTGGCTATCACCAGCCTCCTC 0.632000 18 4 0 0 0.000602214 0 0 DMXL1 1657 broad.mit.edu 37 5 118582703 118582703 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:118582703C>T uc010jcl.1 + 43 9117 c.8936C>T c.(8935-8937)tCt>tTt p.S2979F DMXL1_uc003ksd.2_Missense_Mutation_p.S2958F|DMXL1_uc021ycw.1_Missense_Mutation_p.S2785F|DMXL1_uc010jcm.1_Non-coding_Transcript|DMXL1_uc003kse.1_Missense_Mutation_p.S132F NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 2958 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TGGAGTCTCTCTACCTTTGGT 0.428000 66 9 0 0 0.000673444 0 0 MYH7B 57644 broad.mit.edu 37 20 33568416 33568416 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:33568416C>T uc002xbi.2 + 7 821 c.504C>T c.(502-504)ccC>ccT p.P168P MYH7B_uc010gfa.1_Silent_p.P126P NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 126 Myosin head-like. membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCATCAACCCCTACAAATGGC 0.522000 195 19 0 0 0.00229938 0 0 CHRM3 1131 broad.mit.edu 37 1 240071543 240071543 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:240071543G>A uc021plc.1 + 0 792 c.792G>A c.(790-792)gaG>gaA p.E264E CHRM3_uc001hyp.3_Silent_p.E264E NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 264 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GTACCAAAGAGCTTGCTGGCC 0.473000 84 14 0 0 0.00244969 0 0 COG1 9382 broad.mit.edu 37 17 71189274 71189274 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:71189274C>T uc002jjg.3 + 0 102 c.66C>T c.(64-66)ttC>ttT p.F22F COG1_uc002jjf.1_Silent_p.F22F|COG1_uc002jjh.3_Silent_p.F22F NM_018714 NP_061184 Q8WTW3 COG1_HUMAN Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA. 22 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) CGGCTCTTTTCGAGACGCATG 0.677000 14 9 0 0 0.000442599 0 0 MMD2 221938 broad.mit.edu 37 7 4947132 4947132 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:4947132G>A uc003sno.4 - 6 904 c.708C>T c.(706-708)caC>caT p.H236H MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.4_Silent_p.H212H|MMD2_uc010ksq.3_3'UTR NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA. 236 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) GCCAGATGGCGTGGGCAAAGG 0.577000 88 10 0 0 0.000442599 0 0 TAAR6 319100 broad.mit.edu 37 6 132891983 132891983 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:132891983G>A uc011eck.2 + 0 523 c.523G>A c.(523-525)Gat>Aat p.D175N NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA. 175 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TGTCTATGACGATGGGCTGGA 0.458000 172 11 0 0 0.00185496 0 0 RP1 6101 broad.mit.edu 37 8 55540068 55540068 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:55540068C>T uc003xsd.1 + 3 3774 c.3626C>T c.(3625-3627)tCt>tTt p.S1209F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1209 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) ATAGATCTTTCTGCAAATTGT 0.433000 76 14 0 0 0.00244969 0 0 IGFL2 147920 broad.mit.edu 37 19 46663975 46663975 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:46663975C>T uc002peb.3 + 3 502 c.211C>T c.(211-213)Ctg>Ttg p.L71L IGFL2_uc010xxv.2_Silent_p.L60L NM_001002915 NP_001002915 Q6UWQ7 IGFL2_HUMAN Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA. 60 extracellular region protein binding cervix(1)|lung(5) 6 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) CATCGTGTCCCTGAGCGAGAC 0.567000 263 30 0 0 0.00283554 0 0 OR2A25 392138 broad.mit.edu 37 7 143771361 143771361 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:143771361C>T uc011ktx.2 + 0 49 c.49C>T c.(49-51)Ccc>Tcc p.P17S NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) ACTGGGATTTCCCATTGGCCC 0.488000 87 10 0 0 0.000673444 0 0 FAM113B 91523 broad.mit.edu 37 12 47629785 47629785 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:47629785C>T uc001rpq.3 + 1 1464 c.939C>T c.(937-939)ctC>ctT p.L313L FAM113B_uc001rpn.3_Silent_p.L313L|FAM113B_uc021qxi.1_Silent_p.L313L NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 313 Pro-rich. hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) tgccgctgctcccgctcctgt 0.627000 77 10 0 0 0.000442599 0 0 BTNL9 153579 broad.mit.edu 37 5 180475174 180475174 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:180475174G>A uc003mmt.3 + 2 588 c.357G>A c.(355-357)caG>caA p.Q119Q BTNL9_uc011dhi.1_Silent_p.Q50Q NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN Homo sapiens butyrophilin-like 9 (BTNL9), mRNA. 119 Ig-like V-type. integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-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) TGGTCCTGCAGCTTCACAGCA 0.602000 39 6 0 0 0.00116845 0 0 NRK 203447 broad.mit.edu 37 X 105178361 105178361 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:105178361G>A uc004emd.3 + 19 3727 c.3424G>A c.(3424-3426)Gat>Aat p.D1142N NRK_uc010npc.1_Missense_Mutation_p.D810N NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 1142 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 AACACAATCAGATTTTTCTGC 0.443000 HNSCC(51;0.14) 45 14 0 0 0.00316338 0 0 PRKCQ 5588 broad.mit.edu 37 10 6520992 6520992 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:6520992G>A uc001iji.1 - 10 1498 c.1414C>T c.(1414-1416)Ccg>Tcg p.P472S PRKCQ_uc001ijj.2_Missense_Mutation_p.P439S|PRKCQ_uc009xim.2_Missense_Mutation_p.P439S|PRKCQ_uc009xin.2_Missense_Mutation_p.P403S|PRKCQ_uc010qax.2_Missense_Mutation_p.P314S NM_006257 NP_006248 Q04759 KPCT_HUMAN Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA. 439 Protein kinase. T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 GTCAGAAACGGATGCTCCCAG 0.473000 58 7 0 0 0.00198382 0 0 PCLO 27445 broad.mit.edu 37 7 82582185 82582185 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:82582185G>A uc003uhx.2 - 4 8373 c.8084C>T c.(8083-8085)tCc>tTc p.S2695F PCLO_uc003uhv.2_Missense_Mutation_p.S2695F|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2626 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 AATTGTTATGGAAATGCTGCT 0.413000 28 6 0 0 0.00116845 0 0 PTPRD 5789 broad.mit.edu 37 9 8484228 8484228 + Missense_Mutation SNP T G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:8484228T>G uc003zkk.3 - 29 4047 c.3304A>C c.(3304-3306)Aag>Cag p.K1102Q PTPRD_uc003zkp.3_Missense_Mutation_p.K691Q|PTPRD_uc003zkq.3_Missense_Mutation_p.K691Q|PTPRD_uc003zkr.3_Missense_Mutation_p.K686Q|PTPRD_uc003zks.3_Missense_Mutation_p.K681Q|PTPRD_uc022bdj.1_Missense_Mutation_p.K688Q NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 1102 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGTGCAGTCTTTGCCGTGACC 0.468000 TSP Lung(15;0.13) 61 7 0 0 0.00307968 0 0 ERC1 23085 broad.mit.edu 37 12 1299088 1299088 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:1299088G>A uc001qjb.2 + 11 2462 c.2221G>A c.(2221-2223)Gag>Aag p.E741K ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.E713K|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.E741K|ERC1_uc010sdv.1_Missense_Mutation_p.E489K|ERC1_uc009zdp.3_Missense_Mutation_p.E381K|ERC1_uc001qje.2_Non-coding_Transcript NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA. 741 I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) ACAGCACTTGGAGAGAGAGAT 0.448000 60 12 0 0 0.00244969 0 0 ODZ3 55714 broad.mit.edu 37 4 183609456 183609456 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:183609456G>A uc003ivd.1 + 10 2248 c.2173G>A c.(2173-2175)Ggc>Agc p.G725S ODZ3_uc003ive.1_Missense_Mutation_p.G131S NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 725 EGF-like 7. signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CTGCAAGGATGGCAAGTGTGA 0.612000 44 6 0 0 0.00116845 0 0 FCRL3 115352 broad.mit.edu 37 1 157668209 157668209 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:157668209G>A uc001fqz.4 - 3 555 c.263C>T c.(262-264)tCc>tTc p.S88F FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'Flank|FCRL3_uc001frb.3_Missense_Mutation_p.S88F|FCRL3_uc001frc.1_Missense_Mutation_p.S88F NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 88 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) ATCACTGAGGGAGGATCCTCG 0.463000 107 6 0 0 0.00198382 0 0 CATSPER2P1 440278 broad.mit.edu 37 15 44028410 44028410 + RNA SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:44028410G>A uc001zss.3 - 3 c.1371C>T Homo sapiens cation channel, sperm associated 2 pseudogene 1 (CATSPER2P1), non-coding RNA. ATTGTGCAAGGAGTTTGAGAG 0.512000 199 20 0 0 0.00229938 0 0 SESN2 83667 broad.mit.edu 37 1 28595748 28595748 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:28595748C>T uc001bps.3 + 1 541 c.145C>T c.(145-147)Ccc>Tcc p.P49S NM_031459 NP_113647 P58004 SESN2_HUMAN Homo sapiens sestrin 2 (SESN2), mRNA. 49 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-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;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) CGCCTTCATCCCCGTGGAGGA 0.547000 69 22 0 0 0.00188189 0 0 IRX5 10265 broad.mit.edu 37 16 54967364 54967364 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:54967364C>T uc002ehv.3 + 2 1031 c.1031C>T c.(1030-1032)tCg>tTg p.S344L IRX5_uc021tin.1_Missense_Mutation_p.S343L|IRX5_uc002ehw.3_Missense_Mutation_p.S278L NM_005853 NP_005844 P78411 IRX5_HUMAN Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA. 344 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GCCACATCGTCGGACAAGGTC 0.706000 27 6 0 0 0.000274275 0 0 PLCB2 5330 broad.mit.edu 37 15 40581030 40581030 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:40581030G>A uc001zld.3 - 31 3745 c.3444C>T c.(3442-3444)acC>acT p.T1148T PLCB2_uc001zlc.3_Silent_p.T132T|PLCB2_uc010bbo.3_Silent_p.T1144T|PLCB2_uc010ucm.2_Silent_p.T1133T NM_004573 NP_004564 Q00722 PLCB2_HUMAN Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA. 1148 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) AGGGAAAGCAGGTCCTGAGGC 0.627000 67 7 0 0 0.000442599 0 0 TCHH 7062 broad.mit.edu 37 1 152085441 152085441 + Silent SNP A G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:152085441A>G uc009wne.1 - 2 524 c.252T>C c.(250-252)gcT>gcC p.A84A TCHH_uc001ezp.2_Silent_p.A84A NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 84 EF-hand 2.|S-100-like. keratinization cytoskeleton calcium ion binding p.Q83R(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATAGTAACAAGCTTGAGCCA 0.498000 107 11 0 0 0.000978159 0 0 OR2T1 26696 broad.mit.edu 37 1 248570111 248570111 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248570111G>A uc010pzm.2 + 0 816 c.816G>A c.(814-816)ctG>ctA p.L272L NM_030904 NP_112166 O43869 OR2T1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA. 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 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) CCCGAATCCTGACTACAGTTC 0.517000 59 16 0 0 0.00074312 0 0 ULK1 8408 broad.mit.edu 37 12 132403804 132403804 + Silent SNP C T T rs139624236 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:132403804C>T uc001uje.3 + 23 2827 c.2559C>T c.(2557-2559)ttC>ttT p.F853F NM_003565 NP_003556 O75385 ULK1_HUMAN Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA. 853 autophagy|protein localization|regulation of autophagy ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CGCTGCTGTTCGTGCAGCACG 0.682000 39 5 0 0 0.00307968 0 0 DSC2 1824 broad.mit.edu 37 18 28651772 28651772 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:28651772G>A uc002kwl.4 - 12 2378 c.1924C>T c.(1924-1926)Cca>Tca p.P642S DSC2_uc002kwk.4_Missense_Mutation_p.P642S NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 642 Cadherin 5. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GAGCCAAATGGAGGATCATTC 0.348000 22 5 0 0 0.00116845 0 0 HMCN1 83872 broad.mit.edu 37 1 185972948 185972948 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:185972948C>T uc001grq.1 + 28 4676 c.4447C>T c.(4447-4449)Cct>Tct p.P1483S NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 1483 Ig-like C2-type 12. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CACTCCCTTTCCTGATATTCA 0.418000 58 7 0 0 0.000442599 0 0 SCN11A 11280 broad.mit.edu 37 3 38889190 38889190 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:38889190G>A uc021wvy.1 - 25 4570 c.4371C>T c.(4369-4371)ttC>ttT p.F1457F NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1457 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) GCGTCGGAGGGAAAGGAATGT 0.493000 47 5 0 0 0.00307968 0 0 ZNF570 148268 broad.mit.edu 37 19 37975219 37975219 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:37975219C>T uc010efl.1 + 5 982 c.863C>T c.(862-864)tCc>tTc p.S288F ZNF570_uc002ogk.1_Missense_Mutation_p.S232F|ZNF570_uc010xtr.1_Missense_Mutation_p.S29F NM_144694 NP_653295 Q96NI8 ZN570_HUMAN Homo sapiens zinc finger protein 570 (ZNF570), mRNA. 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGAGTTCATCCCTTACTCTT 0.358000 199 29 0 0 0.001512 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552569 1552569 + Nonsense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:1552569C>T uc010gai.3 - 2 647 c.548G>A c.(547-549)tGg>tAg p.W183* SIRPB1_uc002wfk.4_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA. 183 Ig-like C1-type 1. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 ATTTTTGAACCATTTCAGGGT 0.587000 94 11 0 0 0.00316338 0 0 PSG2 5670 broad.mit.edu 37 19 43579626 43579626 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43579626C>T uc002ovr.3 - 2 761 c.589G>A c.(589-591)Gaa>Aaa p.E197K PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 197 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CTGTTGGTTTCGGACAGCTGA 0.498000 276 24 0 0 0.00106085 0 0 FRS3 10817 broad.mit.edu 37 6 41738529 41738529 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:41738529G>A uc003orc.1 - 6 1551 c.1307C>T c.(1306-1308)cCc>cTc p.P436L NM_006653 NP_006644 O43559 FRS3_HUMAN Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA. 436 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGGGCTCGAGGGGTTCTGGGG 0.652000 106 17 0 0 0.000958276 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679218 176679218 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:176679218G>A uc001gkz.3 + 10 4721 c.3557G>A c.(3556-3558)gGa>gAa p.G1186E PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1186 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ACTCCCAAAGGATACTTGGAT 0.463000 81 12 0 0 0.000978159 0 0 NDST3 9348 broad.mit.edu 37 4 118976018 118976018 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:118976018G>A uc003ibx.3 + 1 1356 c.953G>A c.(952-954)gGa>gAa p.G318E NDST3_uc011cgf.1_Missense_Mutation_p.G318E|NDST3_uc003ibw.3_Missense_Mutation_p.G318E NM_004784 NP_004775 O95803 NDST3_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA. 318 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 GGAAAAGAGGGAACAAGAATG 0.393000 56 8 0 0 0.00307968 0 0 SRGAP3 9901 broad.mit.edu 37 3 9068638 9068638 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:9068638G>A uc003brf.1 - 12 2257 c.1581C>T c.(1579-1581)atC>atT p.I527I SRGAP3_uc003brg.1_Silent_p.I503I|SRGAP3_uc003bri.1_Non-coding_Transcript NM_014850 NP_055665 O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA. 527 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) TGATGTAACGGATGCAGCTCT 0.423000 T RAF1 pilocytic astrocytoma 141 37 0 0 0.00361006 0 0 MARCO 8685 broad.mit.edu 37 2 119726833 119726833 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:119726833C>T uc002tln.1 + 1 327 c.195C>T c.(193-195)gtC>gtT p.V65V MARCO_uc010yyf.1_5'UTR NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 65 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TGCTGGTGGTCCAAGGTAAAG 0.602000 47 10 0 0 0.000442599 0 0 MMP25 64386 broad.mit.edu 37 16 3100328 3100328 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:3100328G>A uc002cth.3 + 3 679 c.442G>A c.(442-444)Gcc>Acc p.A148T MMP25_uc002cti.1_Missense_Mutation_p.A84T NM_022468 NP_071913 Q9NPA2 MMP25_HUMAN Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA. 148 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 TGCCCTGATGGCCTGGGGCAT 0.632000 57 10 0 0 0.000442599 0 0 MS4A2 2206 broad.mit.edu 37 11 59863043 59863043 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:59863043C>T uc001nop.3 + 6 751 c.649C>T c.(649-651)Cgt>Tgt p.R217C MS4A2_uc021qka.1_Missense_Mutation_p.R172C NM_000139 NP_000130 Q01362 FCERB_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA. 217 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) TCCAGAGGATCGTGTTTATGA 0.388000 40 10 0 0 0.000673444 0 0 LRP1B 53353 broad.mit.edu 37 2 141299440 141299440 + Missense_Mutation SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:141299440T>C uc002tvj.1 - 43 8267 c.7295A>G c.(7294-7296)aAc>aGc p.N2432S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2432 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGTGTACTTGTTGGACCGCAG 0.428000 TSP Lung(27;0.18) 59 5 0 0 0.000602214 0 0 SLC9C2 284525 broad.mit.edu 37 1 173569289 173569289 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:173569289G>A uc001giz.2 - 2 618 c.195C>T c.(193-195)ttC>ttT p.F65F SLC9C2_uc010pmq.1_Intron NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 65 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity GTCCTATCACGAATCCTGATA 0.343000 91 8 0 0 0.000442599 0 0 ADAM7 8756 broad.mit.edu 37 8 24349489 24349489 + Missense_Mutation SNP C T T rs149854879 by1000genomes TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:24349489C>T uc003xeb.3 + 13 1543 c.1430C>T c.(1429-1431)tCg>tTg p.S477L ADAM7_uc003xec.3_Missense_Mutation_p.S249L NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 477 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ACTGGCCACTCGCCTGCCTGT 0.463000 76 11 0 0 0.000978159 0 0 EFHB 151651 broad.mit.edu 37 3 19975233 19975233 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:19975233C>T uc003cbl.4 - 0 474 c.278G>A c.(277-279)aGt>aAt p.S93N EFHB_uc003cbm.3_Intron NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN Homo sapiens EF-hand domain family, member B (EFHB), mRNA. 93 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 AGCTGAGACACTGTCGACTCC 0.428000 140 10 0 0 0.00136819 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997332 146997332 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:146997332G>A uc003weu.2 + 8 1964 c.1448G>A c.(1447-1449)cGa>cAa p.R483Q MIR548I4_uc022aoo.1_Intron NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 483 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCAGCAGTTCGAACTAATAGT 0.423000 HNSCC(39;0.1) 64 8 0 0 0.000442599 0 0 OR11H6 122748 broad.mit.edu 37 14 20692721 20692721 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:20692721C>T uc010tlc.2 + 0 853 c.853C>T c.(853-855)Cca>Tca p.P285S NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) ATCAGGGAACCCAGCAGGAAT 0.438000 58 7 0 0 0.00198382 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113672623 113672623 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:113672623C>T uc003eau.3 + 2 537 c.238C>T c.(238-240)Cct>Tct p.P80S ZDHHC23_uc003eav.3_Missense_Mutation_p.P74S NM_173570 NP_775841 Q8IYP9 ZDH23_HUMAN Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA. 80 integral to membrane acyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 CCTCCGAATTCCTTGGCTTAG 0.458000 89 28 0 0 0.00106085 0 0 NALCN 259232 broad.mit.edu 37 13 101714437 101714437 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:101714437C>T uc001vox.1 - 40 4827 c.4638G>A c.(4636-4638)aaG>aaA p.K1546K NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 1546 integral to membrane sodium channel activity|voltage-gated ion channel activity p.R1545W(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTGCAAGCTCTTCCGGATGT 0.557000 34 5 0 0 0.00116845 0 0 CXCR6 10663 broad.mit.edu 37 3 45988186 45988186 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:45988186G>A uc003cpc.1 + 1 294 c.213G>A c.(211-213)gtG>gtA p.V71V FYCO1_uc003cpb.4_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Silent_p.V71V|CXCR6_uc021www.1_Silent_p.V71V NM_006564 NP_006555 O00574 CXCR6_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA. 71 viral genome replication integral to plasma membrane coreceptor activity central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TGTTCCTGGTGAACCTACCCC 0.547000 126 31 0 0 0.00209593 0 0 SPNS1 83985 broad.mit.edu 37 16 28993278 28993278 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:28993278C>T uc010vdi.1 + 7 1006 c.866C>T c.(865-867)tCc>tTc p.S289F NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.S216F|SPNS1_uc002dsa.2_Missense_Mutation_p.S289F|SPNS1_uc002drz.2_Intron|SPNS1_uc010byp.2_Intron|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank|LAT_uc010vdj.2_5'Flank NM_001142448 NP_001135922 Q9H2V7 SPNS1_HUMAN Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA. 289 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1) 21 GTCACGGGCTCCCTGGCTCTG 0.622000 OREG0023712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 15 0 0 0.00316338 0 0 AIM1 202 broad.mit.edu 37 6 106969219 106969219 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:106969219C>T uc003prh.3 + 1 3824 c.2912C>T c.(2911-2913)tCa>tTa p.S971L NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 971 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GTTATTAAATCAAACTTGCCA 0.363000 68 9 0 0 0.000442599 0 0 ANKRD33 341405 broad.mit.edu 37 12 52282492 52282492 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:52282492C>T uc001rzd.3 + 1 464 c.286C>T c.(286-288)Ctg>Ttg p.L96L ANKRD33_uc001rzh.4_Silent_p.L96L|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR NM_182608 NP_872414 Q7Z3H0 ANR33_HUMAN Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA. 0 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) AGGCTGCAGGCTGGGGGCCCT 0.647000 61 7 0 0 0.00198382 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307762 46307762 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:46307762G>A uc002pdm.3 - 2 1572 c.1401C>T c.(1399-1401)gtC>gtT p.V467V RSPH6A_uc002pdl.3_Silent_p.V203V NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA. 467 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GGTAGCTGACGACTGGCGTGT 0.657000 89 13 0 0 0.00185496 0 0 CD1B 910 broad.mit.edu 37 1 158300829 158300829 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:158300829G>A uc001frx.3 - 1 193 c.85C>T c.(85-87)Cat>Tat p.H29Y CD1B_uc001frw.3_Missense_Mutation_p.H29Y|CD1B_uc010pic.1_Missense_Mutation_p.H29Y NM_001764 NP_001755 P29016 CD1B_HUMAN Homo sapiens CD1b molecule (CD1B), mRNA. 29 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) TGGATAACATGAAAGGAGGTC 0.473000 277 33 0 0 0.000953801 0 0 PHLDB2 90102 broad.mit.edu 37 3 111632456 111632456 + Silent SNP A G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:111632456A>G uc010hqa.3 + 2 2037 c.1626A>G c.(1624-1626)gaA>gaG p.E542E PHLDB2_uc003dyc.3_Silent_p.E569E|PHLDB2_uc003dyd.3_Silent_p.E542E|PHLDB2_uc003dyg.3_Silent_p.E542E|PHLDB2_uc003dyh.3_Silent_p.E542E|PHLDB2_uc003dyi.3_Silent_p.E128E|PHLDB2_uc003dyf.4_Silent_p.E542E NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 542 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GGAATGATGAACTACTCAGTG 0.532000 115 29 0 0 0.00178596 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834424 101834424 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:101834424G>A uc003knn.3 - 0 297 c.125C>T c.(124-126)tCg>tTg p.S42L SLCO6A1_uc003kno.3_Missense_Mutation_p.S42L|SLCO6A1_uc003knp.3_Missense_Mutation_p.S42L|SLCO6A1_uc003knq.3_Missense_Mutation_p.S42L NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 42 integral to membrane|plasma membrane transporter activity p.S42S(1)|p.S41F(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CCCGGGCTTCGAGGACTTCGG 0.577000 201 23 0 0 0.00332997 0 0 CFTR 1080 broad.mit.edu 37 7 117175355 117175355 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:117175355C>T uc003vjd.3 + 5 765 c.633C>T c.(631-633)ctC>ctT p.L211L CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 211 ABC transmembrane type-1 1. 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|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding 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) TGGCACTCCTCATGGGGCTAA 0.488000 Cystic Fibrosis 169 14 0 0 0.00074312 0 0 MAP3K9 4293 broad.mit.edu 37 14 71227825 71227825 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:71227825G>A uc001xmm.3 - 2 895 c.895C>T c.(895-897)Cgg>Tgg p.R299W MAP3K9_uc010ttk.2_Missense_Mutation_p.R36W|MAP3K9_uc001xmk.3_5'UTR|MAP3K9_uc001xml.3_Missense_Mutation_p.R299W NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 299 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TGCCATTCCCGAGCCAGGCCA 0.507000 54 7 0 0 0.00307968 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854553 12854553 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:12854553C>T uc001auj.2 + 2 880 c.777C>T c.(775-777)ttC>ttT p.F259F NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 259 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) TTGCCAAATTCAGCTCTGTGT 0.448000 194 51 0 0 0.00361006 0 0 IGSF1 3547 broad.mit.edu 37 X 130413158 130413158 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:130413158G>A uc004ewe.4 - 10 2007 c.1724C>T c.(1723-1725)tCt>tTt p.S575F IGSF1_uc004ewd.3_Intron|IGSF1_uc022cdv.1_Intron|IGSF1_uc004ewf.2_Intron NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 572 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding p.?(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCCTGCAAAAGAAATTGCTGC 0.572000 46 27 0 0 0.00395357 0 0 TTN 7273 broad.mit.edu 37 2 179584374 179584374 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179584374G>A uc021vsy.1 - 78 20338 c.20113C>T c.(20113-20115)Ccc>Tcc p.P6705S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3366S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7632 Ig-like 48. 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) TCGGCACAGGGGATTTTAAGG 0.408000 110 14 0 0 0.00244969 0 0 TPO 7173 broad.mit.edu 37 2 1440035 1440035 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:1440035G>A uc002qwr.3 + 4 447 c.361G>A c.(361-363)Gaa>Aaa p.E121K TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.E121K|TPO_uc002qww.3_Missense_Mutation_p.E121K|TPO_uc002qwx.3_Missense_Mutation_p.E121K|TPO_uc002qwu.3_Missense_Mutation_p.E121K|TPO_uc010yio.2_Missense_Mutation_p.E121K|TPO_uc010yip.2_Missense_Mutation_p.E121K NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 121 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGCTTTATCAGAAGATCTGCT 0.428000 74 10 0 0 0.00136819 0 0 CFHR5 81494 broad.mit.edu 37 1 196952150 196952150 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:196952150C>T uc001gts.4 + 1 322 c.194C>T c.(193-195)tCc>tTc p.S65F NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 65 Sushi 1. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 CCTTCAAAATCCTTTTGGACT 0.388000 64 8 0 0 0.000274275 0 0 ODZ1 10178 broad.mit.edu 37 X 123805605 123805605 + Silent SNP T G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:123805605T>G uc010nqy.3 - 5 1160 c.1096A>C c.(1096-1098)Agg>Cgg p.R366R ODZ1_uc011muj.2_Silent_p.R365R|ODZ1_uc004euj.3_Silent_p.R366R NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 366 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TCGGTCCCCCTGTTCCCTTTG 0.438000 47 6 0 0 0.000274275 0 0 DAB1 1600 broad.mit.edu 37 1 57480937 57480937 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:57480937G>A uc009vzx.1 - 11 1383 c.1063C>T c.(1063-1065)Cca>Tca p.P355S DAB1_uc001cyt.1_Missense_Mutation_p.P353S|DAB1_uc001cyq.1_Missense_Mutation_p.P353S|DAB1_uc001cyr.1_Missense_Mutation_p.P269S|DAB1_uc009vzw.1_Missense_Mutation_p.P337S|DAB1_uc001cys.1_Missense_Mutation_p.P355S NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 388 cell differentiation|nervous system development p.P355S(2) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GCCACAGTTGGCCAGGGCTGC 0.652000 91 22 0 0 0.00106085 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515784 47515784 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:47515784C>T uc001cqt.3 + 11 1718 c.1468C>T c.(1468-1470)Cat>Tat p.H490Y CYP4X1_uc001cqr.3_Missense_Mutation_p.H489Y|CYP4X1_uc001cqs.3_Missense_Mutation_p.H425Y NM_178033 NP_828847 Q8N118 CP4X1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA. 490 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TTTCCCCAACCATTTTATCCT 0.438000 103 20 0 0 0.00188189 0 0 VSTM4 196740 broad.mit.edu 37 10 50227709 50227709 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:50227709C>T uc001jhf.2 - 7 978 c.949G>A c.(949-951)Gag>Aag p.E317K NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA. 317 integral to membrane|plasma membrane p.E316*(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 AGCTTGTTCTCCTCGAAGAGG 0.512000 57 14 0 0 0.00244969 0 0 MUC16 94025 broad.mit.edu 37 19 9065721 9065721 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9065721G>A uc002mkp.3 - 2 21929 c.21725C>T c.(21724-21726)tCc>tTc p.S7242F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7244 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 GCTCAGGGAGGAAATTGACTC 0.468000 146 18 0 0 0.000566183 0 0 RFWD2 64326 broad.mit.edu 37 1 176015319 176015319 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:176015319G>A uc001gku.1 - 11 1675 c.1419C>T c.(1417-1419)atC>atT p.I473I RFWD2_uc001gkv.1_Silent_p.I449I|RFWD2_uc001gkw.1_Silent_p.I233I|RFWD2_uc009wwv.2_Silent_p.I272I|RFWD2_uc001gkt.1_Silent_p.I312I NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA. 473 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GTAAATACCTGATTTTCGAAT 0.318000 107 12 0 0 0.00136819 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529638 5529638 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:5529638G>A uc021qcw.1 - 0 1151 c.1151C>T c.(1150-1152)tCa>tTa p.S384L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.S384L NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 384 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATGAGGGTGACGATGGGGG 0.577000 154 17 0 0 0.00074312 0 0 SALL3 27164 broad.mit.edu 37 18 76755016 76755016 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:76755016C>T uc002lmt.3 + 1 3025 c.3025C>T c.(3025-3027)Ctc>Ttc p.L1009F SALL3_uc010dra.3_Intron NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 1009 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A1008T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGTCTGCGCGCTCTGCAGGCG 0.517000 73 13 0 0 0.00136819 0 0 SLC26A9 115019 broad.mit.edu 37 1 205893549 205893549 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:205893549G>A uc001hdp.3 - 12 1572 c.1458C>T c.(1456-1458)gtC>gtT p.V486V SLC26A9_uc001hdo.3_Silent_p.V154V|SLC26A9_uc001hdq.3_Silent_p.V486V NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 486 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CGGAGAAGGCGACACCCACTG 0.577000 80 13 0 0 0.00316338 0 0 IBSP 3381 broad.mit.edu 37 4 88731793 88731793 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:88731793G>A uc003hqx.4 + 5 380 c.282G>A c.(280-282)tcG>tcA p.S94S NM_004967 NP_004958 P21815 SIAL_HUMAN Homo sapiens integrin-binding sialoprotein (IBSP), mRNA. 94 Asp/Glu-rich (acidic). S -> L (in Ref. 3; AAC37560). biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) ATGAAGAATCGAATGAAGATG 0.403000 80 13 0 0 0.00400662 0 0 BSN 8927 broad.mit.edu 37 3 49694662 49694662 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:49694662C>T uc003cxe.4 + 4 7787 c.7673C>T c.(7672-7674)tCc>tTc p.S2558F NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 2558 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AAGCGGCACTCCATGCCACGC 0.622000 46 8 0 0 0.000442599 0 0 LRIT1 26103 broad.mit.edu 37 10 85993963 85993963 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:85993963G>A uc001kcz.1 - 2 783 c.761C>T c.(760-762)cCa>cTa p.P254L NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA. 254 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 ATGGAGCTCTGGGCCCTGGCA 0.607000 76 21 0 0 0.00278032 0 0 OR10X1 128367 broad.mit.edu 37 1 158548961 158548961 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:158548961C>T uc010pin.2 - 0 729 c.729G>A c.(727-729)agG>agA p.R243R NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA. 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CTGAAGGGATCCTGAGGACAG 0.453000 94 31 0 0 0.00327116 0 0 INO80 54617 broad.mit.edu 37 15 41340454 41340454 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:41340454G>A uc001zni.3 - 21 2810 c.2597C>T c.(2596-2598)cCa>cTa p.P866L INO80_uc010ucu.2_Non-coding_Transcript NM_017553 NP_060023 Q9ULG1 INO80_HUMAN Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA. 866 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly Ino80 complex|microtubule ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGGTGCAAATGGAGAAAGAAC 0.383000 139 19 0 0 0.00229938 0 0 LARP4 113251 broad.mit.edu 37 12 50848137 50848137 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:50848137C>T uc001rwp.2 + 9 1260 c.1058C>T c.(1057-1059)tCg>tTg p.S353L LARP4_uc001rwq.2_Missense_Mutation_p.S282L|LARP4_uc001rwt.2_Missense_Mutation_p.S282L|LARP4_uc001rws.2_Missense_Mutation_p.S352L|LARP4_uc001rwr.2_Missense_Mutation_p.S353L|LARP4_uc021qxv.1_Missense_Mutation_p.S283L|LARP4_uc009zlr.1_Missense_Mutation_p.S172L|LARP4_uc001rwm.3_Missense_Mutation_p.S353L|LARP4_uc001rwn.3_Missense_Mutation_p.S283L NM_052879 NP_443111 Q71RC2 LARP4_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA. 353 RNA binding|nucleotide binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 GGCTTTAATTCGCCAGGATCT 0.343000 59 7 0 0 0.00198382 0 0 MFSD5 84975 broad.mit.edu 37 12 53647946 53647946 + Nonsense_Mutation SNP G T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:53647946G>T uc001sch.2 + 1 1795 c.1648G>T c.(1648-1650)Gag>Tag p.E550* MFSD5_uc001sci.2_Nonsense_Mutation_p.E443*|MFSD5_uc021qye.1_Nonsense_Mutation_p.E443* NM_001170790 NP_116278 Q6N075 MFSD5_HUMAN Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA. 443 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 TTCACCTACTGAGGAGCCCTA 0.547000 70 9 6.42651e-13 1.89944e-12 0.000978159 1 0 PLXND1 23129 broad.mit.edu 37 3 129286547 129286547 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:129286547G>A uc003emx.2 - 20 4067 c.3967C>T c.(3967-3969)Cgc>Tgc p.R1323C PLXND1_uc011blb.1_5'Flank|U7_uc021xdx.1_5'Flank NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1323 axon guidance integral to membrane|intracellular|plasma membrane p.R1323H(1) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CTACCTTTGCGGATTTCCTCT 0.612000 28 7 0 0 0.00307968 0 0 OR7G2 390882 broad.mit.edu 37 19 9213846 9213846 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9213846G>A uc010xkk.2 - 0 137 c.137C>T c.(136-138)cCc>cTc p.P46L NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA. 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GAAAAGGACGGGCTGCAGTTC 0.502000 71 7 0 0 0.000274275 0 0 OR2G2 81470 broad.mit.edu 37 1 247752313 247752313 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:247752313C>T uc010pyy.2 + 0 652 c.652C>T c.(652-654)Ctg>Ttg p.L218L NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA. 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTCATTCATCCTGGTCTCCTC 0.517000 102 7 0 0 0.00198382 0 0 WDR12 55759 broad.mit.edu 37 2 203748933 203748933 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:203748933G>A uc002uzl.3 - 9 1726 c.976C>T c.(976-978)Ccc>Tcc p.P326S NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN Homo sapiens WD repeat domain 12 (WDR12), mRNA. 326 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) PeBoW complex|nucleoplasm|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 TTAGTTCGGGGATCCCACAGT 0.373000 408 52 0 0 0.00361006 0 0 RSPO2 340419 broad.mit.edu 37 8 108973025 108973025 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:108973025C>T uc003yms.3 - 3 962 c.304G>A c.(304-306)Gat>Aat p.D102N RSPO2_uc003ymq.3_Missense_Mutation_p.D35N|RSPO2_uc003ymr.3_Missense_Mutation_p.D39N NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN Homo sapiens R-spondin 2 (RSPO2), mRNA. 102 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) AAGCAAGAATCACAGTTTTCT 0.303000 17 5 0 0 0.000602214 0 0 LCP2 3937 broad.mit.edu 37 5 169702336 169702336 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:169702336G>A uc003man.1 - 4 481 c.274C>T c.(274-276)Cct>Tct p.P92S LCP2_uc011det.1_5'UTR NM_005565 NP_005556 Q13094 LCP2_HUMAN Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA. 92 T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) GTCTCTTCAGGAAACCGCGGG 0.493000 76 8 0 0 0.000673444 0 0 TANC2 26115 broad.mit.edu 37 17 61498732 61498732 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:61498732C>T uc002jal.4 + 24 5412 c.5389C>T c.(5389-5391)Ccg>Tcg p.P1797S TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.P908S NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 1797 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CAACCTAACTCCGACCTTCCG 0.542000 28 4 0 0 0.000602214 0 0 DBF4 10926 broad.mit.edu 37 7 87537097 87537097 + Missense_Mutation SNP G T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:87537097G>T uc003ujf.1 + 11 2148 c.1644G>T c.(1642-1644)aaG>aaT p.K548N DBF4_uc003ujh.1_Missense_Mutation_p.K288N|DBF4_uc003ujg.1_Missense_Mutation_p.K324N|DBF4_uc011khf.1_Missense_Mutation_p.K315N NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA. 548 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) TTCAGGCAAAGGCTCCATTCC 0.368000 100 10 3.07112e-06 9.06623e-06 0.000978159 1 0 OR9A4 130075 broad.mit.edu 37 7 141618810 141618810 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:141618810C>T uc003vwu.1 + 0 135 c.135C>T c.(133-135)atC>atT p.I45I NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CAGTCATCATCATGATTGTCT 0.458000 158 26 0 0 0.000720815 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140711590 140711590 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140711590G>A uc003lji.2 + 0 1339 c.1339G>A c.(1339-1341)Gac>Aac p.D447N PCDHGC5_uc011dan.2_Missense_Mutation_p.D447N NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 449 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATATCAATGACAACTCCCC 0.468000 106 8 0 0 0.00136819 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21349938 21349938 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:21349938C>T uc001req.4 + 7 890 c.786C>T c.(784-786)ttC>ttT p.F262F NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA. 262 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GGCTTAATTTCCTTGTGTCTG 0.363000 84 8 0 0 0.00307968 0 0 SOX2 6657 broad.mit.edu 37 3 181431045 181431045 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:181431045G>A uc003fkx.3 + 0 1334 c.897G>A c.(895-897)caG>caA p.Q299Q SOX2-OT_uc003fkv.3_Intron|SOX2-OT_uc003fkw.4_Intron NM_003106 NP_003097 P48431 SOX2_HUMAN Homo sapiens SRY (sex determining region Y)-box 2 (SOX2), mRNA. 299 cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance cytosol|transcription factor complex miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 10 all_cancers(143;1.22e-16)|Ovarian(172;0.0283) all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08) AGCACTACCAGAGCGGCCCGG 0.642000 A """NSCLC, oesophageal squamous carcinoma""" MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME 13 4 0 0 0.00024832 0 0 IFT88 8100 broad.mit.edu 37 13 21166490 21166490 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:21166490C>T uc001unh.3 + 8 768 c.372C>T c.(370-372)ccC>ccT p.P124P IFT88_uc001uni.3_Silent_p.P115P|IFT88_uc001unj.3_Silent_p.P114P|IFT88_uc010tcq.2_Silent_p.P95P NM_175605 NP_006522 Q13099 IFT88_HUMAN Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA. 124 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) CATTTGACCCCCTTAGTCAGT 0.378000 72 10 0 0 0.00185496 0 0 ILDR1 286676 broad.mit.edu 37 3 121712078 121712078 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:121712078C>T uc003ees.3 - 6 1721 c.1518G>A c.(1516-1518)gaG>gaA p.E506E ILDR1_uc003eeq.3_Silent_p.E474E|ILDR1_uc003eer.3_Silent_p.E462E|ILDR1_uc010hrg.3_Silent_p.E417E NM_001199799 NP_001186728 Q86SU0 ILDR1_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA. 506 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GCGGCTTCTCCTCGGGCCAGT 0.642000 25 5 0 0 0.00198382 0 0 GRID2 2895 broad.mit.edu 37 4 94137913 94137913 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:94137913G>A uc011cdt.2 + 5 1072 c.814G>A c.(814-816)Gaa>Aaa p.E272K GRID2_uc010ikx.3_Missense_Mutation_p.E272K|GRID2_uc011cdu.2_Missense_Mutation_p.E177K|GRID2_uc010ikz.1_5'UTR NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 272 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGACGTACAGGAACTTGTAAG 0.388000 69 5 0 0 0.00116845 0 0 ADAM18 8749 broad.mit.edu 37 8 39506007 39506007 + Silent SNP T C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:39506007T>C uc003xni.3 + 11 1246 c.1191T>C c.(1189-1191)atT>atC p.I397I ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Silent_p.I373I NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 397 Disintegrin. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GTAATGGGATTTTGGAATCCA 0.308000 24 4 0 0 0.000602214 0 0 PIRT 644139 broad.mit.edu 37 17 10728815 10728815 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10728815C>T uc010col.3 - 1 443 c.148G>A c.(148-150)Gaa>Aaa p.E50K PIRT_uc021tqe.1_Missense_Mutation_p.E50K NM_001101387 NP_001094857 P0C851 PIRT_HUMAN Homo sapiens phosphoinositide-interacting regulator of transient receptor potential channels (PIRT), mRNA. 50 integral to membrane p.E50V(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1) 8 CGGTAGATTTCCCAGTTACTC 0.592000 23 5 0 0 0.000602214 0 0 IFT80 57560 broad.mit.edu 37 3 160000378 160000378 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:160000378C>T uc021xgr.1 - 12 1450 c.1404G>A c.(1402-1404)ctG>ctA p.L468L IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Silent_p.L331L|IFT80_uc021xgq.1_Silent_p.L466L|IFT80_uc003fde.2_Silent_p.L331L|IFT80_uc003fdd.2_Silent_p.L151L NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA. 468 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) CTTTTTGATCCAGAGCAATTT 0.269000 47 7 0 0 0.000274275 0 0 KDM5D 8284 broad.mit.edu 37 Y 21878556 21878556 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrY:21878556G>A uc004fug.3 - 13 2050 c.1762C>T c.(1762-1764)Cct>Tct p.P588S KDM5D_uc011naz.2_Missense_Mutation_p.P619S|KDM5D_uc010nwy.3_Missense_Mutation_p.P531S|KDM5D_uc011nba.1_Missense_Mutation_p.P588S|KDM5D_uc004fuf.3_5'Flank NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA. 588 JmjC. chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(1)|large_intestine(9)|lung(6)|skin(1) 17 Vitamin C(DB00126) TAAGCACGAGGAAAAGTGATG 0.478000 18 7 0 0 0.00198382 0 0 PDGFRA 5156 broad.mit.edu 37 4 55139857 55139857 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:55139857C>T uc003han.4 + 9 1849 c.1518C>T c.(1516-1518)ctC>ctT p.L506L PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Silent_p.L400L|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 506 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|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) CTAAGAATCTCCTTGGAGCTG 0.592000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 67 8 0 0 0.00307968 0 0 HAUS6 54801 broad.mit.edu 37 9 19070246 19070246 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:19070246G>A uc003znk.3 - 11 1600 c.1347C>T c.(1345-1347)acC>acT p.T449T HAUS6_uc011lmz.2_Silent_p.T169T|HAUS6_uc022bdv.1_Silent_p.T313T|HAUS6_uc003znl.1_Silent_p.T313T|HAUS6_uc003znm.1_Silent_p.T204T NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA. 449 cell division|centrosome organization|mitosis|spindle assembly HAUS complex|centrosome|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCGCTCCCAAGGTATCACTGT 0.299000 42 6 0 0 0.00307968 0 0 STARD6 147323 broad.mit.edu 37 18 51855788 51855788 + Missense_Mutation SNP T A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:51855788T>A uc010xdt.2 - 4 408 c.408A>T c.(406-408)gaA>gaT p.E136D NM_139171 NP_631910 P59095 STAR6_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA. 136 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) ATGGAGGATATTCTGGAAAAT 0.313000 183 26 0 0 0.00395357 0 0 BCMO1 53630 broad.mit.edu 37 16 81303947 81303947 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:81303947G>A uc002fgn.1 + 6 1245 c.1027G>A c.(1027-1029)Gac>Aac p.D343N BCMO1_uc010vnp.1_Missense_Mutation_p.D274N NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA. 343 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 CCTGAACCAGGACTTCAAGGA 0.577000 74 14 0 0 0.00244969 0 0 DNAH8 1769 broad.mit.edu 37 6 38738242 38738242 + Missense_Mutation SNP A T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:38738242A>T uc021yzh.1 + 11 1780 c.1671A>T c.(1669-1671)aaA>aaT p.K557N DNAH8_uc003ooe.2_Missense_Mutation_p.K340N NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAACAAGGAAACTGATTTCAG 0.323000 47 8 0 0 0.000673444 0 0 SPEG 10290 broad.mit.edu 37 2 220354184 220354184 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:220354184C>T uc010fwg.3 + 35 8444 c.8444C>T c.(8443-8445)cCg>cTg p.P2815L NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2815 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCACACCCCCGTCAGTCACT 0.667000 37 5 0 0 0.00198382 0 0 abParts 0 broad.mit.edu 37 22 22673457 22673457 + RNA SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:22673457C>T uc021wml.1 + 34 c.3121C>T abParts_uc011aiq.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. CTCTGGAGTTCCCAGCCGCTT 0.542000 81 9 0 0 0.000274275 0 0 FGD2 221472 broad.mit.edu 37 6 36995249 36995249 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:36995249C>T uc010jwp.1 + 14 1821 c.1650C>T c.(1648-1650)ttC>ttT p.F550F FGD2_uc003ong.2_Silent_p.F272F|FGD2_uc011dtv.1_Silent_p.F178F|FGD2_uc003onj.1_Silent_p.F127F NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 550 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 TGTGCAGCTTCCTGCAGCTCA 0.617000 116 15 0 0 0.00316338 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280882 105280882 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:105280882C>T uc010npd.3 - 0 403 c.168G>A c.(166-168)agG>agA p.R56R SERPINA7_uc004eme.2_Silent_p.R56R|SERPINA7_uc010npe.2_Silent_p.R56R NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 56 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) CCACAGTGAACCTCCGGTACA 0.473000 28 9 0 0 0.000442599 0 0 KCNIP1 30820 broad.mit.edu 37 5 170149737 170149737 + Silent SNP G A A rs147147696 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:170149737G>A uc003mas.3 + 5 910 c.381G>A c.(379-381)tcG>tcA p.S127S KCNIP1_uc003map.3_Silent_p.S125S|KCNIP1_uc003mat.3_Silent_p.S116S|KCNIP1_uc010jjp.3_Silent_p.S88S|KCNIP1_uc010jjq.3_Silent_p.S141S NM_001034837 NP_001030009 Q9NZI2 KCIP1_HUMAN Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA. 127 EF-hand 2. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity p.S127S(2) autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGCTCTGTCGATTTTATTGA 0.438000 42 5 0 0 0.00116845 0 0 KCNH7 90134 broad.mit.edu 37 2 163393492 163393492 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:163393492C>T uc002uch.2 - 2 635 c.406G>A c.(406-408)Gaa>Aaa p.E136K KCNH7_uc002uci.3_Missense_Mutation_p.E136K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 136 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) GCAGCGTTTTCATTATCCGTC 0.383000 61 11 0 0 0.00136819 0 0 SGMS1 259230 broad.mit.edu 37 10 52103748 52103748 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:52103748C>T uc001jje.3 - 6 1081 c.127G>A c.(127-129)Gat>Aat p.D43N SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.D43N|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.D43N|SGMS1_uc021pqo.1_Missense_Mutation_p.D43N|SGMS1_uc021pqp.1_Non-coding_Transcript NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA. 49 SAM. apoptosis|cell growth|sphingomyelin biosynthetic process Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TTTTTGAAATCCTCTTGGGTT 0.512000 73 18 0 0 0.000958276 0 0 BLZF1 8548 broad.mit.edu 37 1 169346025 169346025 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:169346025C>T uc001gfx.2 + 2 713 c.276C>T c.(274-276)atC>atT p.I92I BLZF1_uc001gfw.3_Silent_p.I92I|BLZF1_uc001gfy.3_Silent_p.I92I|BLZF1_uc009wvp.1_Silent_p.I69I NM_003666 NP_003657 Q9H2G9 GO45_HUMAN Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA. 92 Golgi organization|Golgi to plasma membrane protein transport|cell proliferation|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) CTCATGATATCCCCAACAAAA 0.403000 40 4 0 0 0.00024832 0 0 TTN 7273 broad.mit.edu 37 2 179568985 179568985 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179568985C>T uc021vsy.1 - 102 26605 c.26380G>A c.(26380-26382)Gtg>Atg p.V8794M TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V5455M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9721 Ig-like 71. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P8794Q(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) TTGTGTTCCACTTCTGTTTTA 0.408000 88 9 0 0 0.000442599 0 0 PEX5L 51555 broad.mit.edu 37 3 179593220 179593220 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:179593220C>T uc003fki.1 - 5 681 c.551G>A c.(550-552)gGa>gAa p.G184E PEX5L_uc011bqd.1_Missense_Mutation_p.G141E|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Missense_Mutation_p.G76E|PEX5L_uc003fkj.1_Missense_Mutation_p.G149E|PEX5L_uc010hxd.1_Missense_Mutation_p.G182E|PEX5L_uc011bqg.1_Missense_Mutation_p.G160E|PEX5L_uc011bqh.1_Missense_Mutation_p.G125E NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA. 184 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) ATTTCGATCTCCATGAAACTT 0.453000 63 11 0 0 0.000978159 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4925489 4925489 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrY:4925489G>A uc004fqo.3 + 0 1359 c.625G>A c.(625-627)Gaa>Aaa p.E209K PCDH11Y_uc010nwg.1_Missense_Mutation_p.E198K|PCDH11Y_uc004fql.1_Missense_Mutation_p.E198K|PCDH11Y_uc004fqm.1_Missense_Mutation_p.E198K|PCDH11Y_uc004fqn.1_Missense_Mutation_p.E209K NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 209 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TCAAAACTACGAACTAATTAA 0.308000 16 4 0 0 0.000602214 0 0 DPEP1 1800 broad.mit.edu 37 16 89703005 89703005 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:89703005C>T uc010cin.3 + 4 638 c.435C>T c.(433-435)tcC>tcT p.S145S DPEP1_uc002fnr.4_Silent_p.S145S|DPEP1_uc002fns.4_Silent_p.S145S NM_001128141 NP_004404 P16444 DPEP1_HUMAN Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA. 145 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) GCGGCCACTCCATTGACAGCA 0.672000 73 7 0 0 0.000274275 0 0 NAALADL2 254827 broad.mit.edu 37 3 175184861 175184861 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:175184861C>T uc003fit.3 + 7 1509 c.1422C>T c.(1420-1422)atC>atT p.I474I NAALADL2_uc003fiu.1_Silent_p.I467I|NAALADL2_uc010hwy.1_Silent_p.I248I|NAALADL2_uc010hwz.1_Silent_p.I68I NM_207015 NP_996898 Q58DX5 NADL2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA. 474 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CAGCGTTTATCCGTGCCTTGA 0.438000 148 47 0 0 0.00361006 0 0 KL 9365 broad.mit.edu 37 13 33638031 33638031 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:33638031C>T uc001uus.3 + 4 2755 c.2747C>T c.(2746-2748)tCg>tTg p.S916L NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 916 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTTGCTTATTCGTTTAACGAC 0.418000 182 19 0 0 0.00188189 0 0 CHL1 10752 broad.mit.edu 37 3 391091 391091 + Missense_Mutation SNP G C C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:391091G>C uc003bot.3 + 9 1540 c.898G>C c.(898-900)Ggg>Cgg p.G300R CHL1_uc003bou.3_Missense_Mutation_p.G284R|CHL1_uc003bow.2_Missense_Mutation_p.G284R|CHL1_uc011asi.2_Missense_Mutation_p.G300R NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 284 Ig-like C2-type 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTTACCAAAGGGGAGAGAAAC 0.368000 27 6 0 0 0.00116845 0 0 WDR48 57599 broad.mit.edu 37 3 39116403 39116403 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:39116403C>T uc003cit.3 + 7 869 c.859C>T c.(859-861)Cgg>Tgg p.R287W WDR48_uc011ayt.1_Missense_Mutation_p.R278W|WDR48_uc011ayu.1_Missense_Mutation_p.R205W|WDR48_uc011ayv.1_Missense_Mutation_p.R79W|WDR48_uc003ciu.3_Non-coding_Transcript NM_020839 NP_065890 Q8TAF3 WDR48_HUMAN Homo sapiens WD repeat domain 48 (WDR48), mRNA. 287 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CCCTGACATTCGGGTGCTAAT 0.383000 68 6 0 0 0.00116845 0 0 CD84 8832 broad.mit.edu 37 1 160520779 160520779 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:160520779C>T uc001fwh.4 - 5 937 c.858G>A c.(856-858)agG>agA p.R286R CD84_uc001fwf.4_Silent_p.R269R|CD84_uc009wtn.3_Intron|CD84_uc001fwi.4_Silent_p.R155R|CD84_uc001fwg.4_Silent_p.R280R NM_001184879 NP_001171808 Q9UIB8 SLAF5_HUMAN Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA. 286 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GCTGGGTGTTCCTTGAAGCCA 0.443000 435 29 0 0 0.00283554 0 0 STAT3 6774 broad.mit.edu 37 17 40474352 40474352 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:40474352G>A uc002hzl.1 - 20 2289 c.2049C>T c.(2047-2049)ttC>ttT p.F683F STAT3_uc002hzk.1_Silent_p.F683F|STAT3_uc002hzm.1_Silent_p.F683F|STAT3_uc010wgh.1_Silent_p.F585F|STAT3_uc002hzn.1_Silent_p.F683F NM_139276 NP_644805 P40763 STAT3_HUMAN Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA. 683 JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding p.F683L(2) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) AATACTTTCCGAATGCCTCCT 0.458000 Hyperimmunoglobulin E Recurrent Infection Syndrome 120 15 0 0 0.00400662 0 0 FASTKD5 60493 broad.mit.edu 37 20 3127433 3127433 + Missense_Mutation SNP A G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:3127433A>G uc021vzx.1 - 0 2284 c.2284T>C c.(2284-2286)Tct>Cct p.S762P LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.S762P NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA. 762 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 CAGAGAGCAGAGGTGAATACT 0.428000 111 15 0 0 0.000958276 0 0 ADAM28 10863 broad.mit.edu 37 8 24187570 24187570 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:24187570C>T uc003xdy.3 + 10 1128 c.1045C>T c.(1045-1047)Cat>Tat p.H349Y ADAM28_uc003xdx.3_Missense_Mutation_p.H349Y|ADAM28_uc011kzz.2_Missense_Mutation_p.H116Y|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.H36Y NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 349 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.H349Y(2) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TGGAATGTTTCATGACGACTA 0.458000 40 5 0 0 0.000602214 0 0 FSTL5 56884 broad.mit.edu 37 4 162376222 162376222 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:162376222C>T uc003iqh.3 - 14 2211 c.1775G>A c.(1774-1776)gGa>gAa p.G592E FSTL5_uc003iqi.3_Missense_Mutation_p.G591E|FSTL5_uc010iqv.3_Missense_Mutation_p.G582E NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 592 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AAATTGCTTTCCCACTGGTTG 0.438000 32 4 0 0 0.000602214 0 0 DNAH2 146754 broad.mit.edu 37 17 7673685 7673685 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:7673685G>A uc002giu.1 + 23 4071 c.4057G>A c.(4057-4059)Gag>Aag p.E1353K NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1353 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GAAAATTGGGGAGATCTCTGC 0.542000 52 7 0 0 0.000442599 0 0 KCNK9 51305 broad.mit.edu 37 8 140630697 140630697 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:140630697C>T uc003yvf.1 - 1 993 c.929G>A c.(928-930)cGc>cAc p.R310H KCNK9_uc003yvg.1_Missense_Mutation_p.R310H|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 310 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity p.R310H(2) NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TGCCACCGAGCGGCCGCCATA 0.622000 88 10 0 0 0.000673444 0 0 TMC5 79838 broad.mit.edu 37 16 19490830 19490830 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:19490830C>T uc002dgc.4 + 13 2996 c.2247C>T c.(2245-2247)ttC>ttT p.F749F TMC5_uc010vaq.2_Silent_p.F697F|TMC5_uc002dgb.4_Silent_p.F749F|TMC5_uc010var.2_Silent_p.F749F|TMC5_uc002dgd.1_Silent_p.F503F|TMC5_uc002dge.4_Silent_p.F503F|TMC5_uc002dgf.4_Silent_p.F432F|TMC5_uc002dgg.4_Silent_p.F390F NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 749 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCAATTCCTTCCTGGGGGAGT 0.468000 150 13 0 0 0.00136819 0 0 CDH16 1014 broad.mit.edu 37 16 66943997 66943997 + Splice_Site SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:66943997C>T uc002eql.3 - 16 2362 c.2168_splice c.e16-1 p.G723_splice CDH16_uc010cdy.3_Splice_Site_p.G701_splice|CDH16_uc021tjx.1_Splice_Site_p.G684_splice|CDH16_uc002eqm.3_Splice_Site_p.G626_splice NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 723 Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GCATGGGAACCTTTTGGGACA 0.617000 50 5 0 0 0.000602214 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125284880 125284880 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:125284880C>T uc010flu.3 + 9 1860 c.1496C>T c.(1495-1497)aCc>aTc p.T499I CNTNAP5_uc002tno.3_Missense_Mutation_p.T498I NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 498 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GACAATCTCACCGATTCCCAA 0.453000 46 7 0 0 0.00307968 0 0 INSRR 3645 broad.mit.edu 37 1 156813018 156813018 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:156813018G>A uc010pht.2 - 16 3203 c.2904C>T c.(2902-2904)gtC>gtT p.V968V NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 968 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATTCATCAGGGACATACACTG 0.567000 25 6 0 0 0.00198382 0 0 SORCS1 114815 broad.mit.edu 37 10 108439046 108439046 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:108439046C>T uc001kyl.3 - 11 1890 c.1708G>A c.(1708-1710)Gtc>Atc p.V570I SORCS1_uc021pxw.1_Missense_Mutation_p.V570I|SORCS1_uc009xxs.3_Missense_Mutation_p.V570I|SORCS1_uc001kym.3_Missense_Mutation_p.V570I|SORCS1_uc001kyn.2_Missense_Mutation_p.V570I|SORCS1_uc001kyo.3_Missense_Mutation_p.V570I NM_001013031 NP_001013049 Q8WY21 SORC1_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA. 570 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCTGAAGAGACAAACATGCTG 0.398000 71 12 0 0 0.00185496 0 0 MYOM3 127294 broad.mit.edu 37 1 24424448 24424448 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:24424448C>T uc001bin.4 - 6 873 c.710G>A c.(709-711)gGc>gAc p.G237D MYOM3_uc001bim.4_5'Flank|MYOM3_uc001bio.3_Missense_Mutation_p.G237D|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 237 Ig-like C2-type 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGAGGCCTGGCCGTGGGCGTT 0.592000 212 47 0 0 0.00361006 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573038 140573038 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140573038G>A uc003lix.3 + 0 1087 c.913G>A c.(913-915)Gaa>Aaa p.E305K NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 305 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTTCTCAGAGAATTGCTTGA 0.363000 55 7 0 0 0.00198382 0 0 FRMPD1 22844 broad.mit.edu 37 9 37708428 37708428 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:37708428G>A uc004aag.1 + 3 336 c.292G>A c.(292-294)Gat>Aat p.D98N FRMPD1_uc004aah.1_Missense_Mutation_p.D98N NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 98 PDZ. cytoskeleton|cytosol|plasma membrane p.D98N(2) NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TTTCCCTGGTGATCAGATCCT 0.483000 122 9 0 0 0.000978159 0 0 GPR26 2849 broad.mit.edu 37 10 125447529 125447529 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:125447529C>T uc001lhh.3 + 2 920 c.867C>T c.(865-867)tcC>tcT p.S289S NM_153442 NP_703143 Q8NDV2 GPR26_HUMAN Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA. 289 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) AGGCCGCATCCGACCCCTTTG 0.602000 84 11 0 0 0.000978159 0 0 CCR2 729230 broad.mit.edu 37 3 46399868 46399868 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:46399868G>A uc003cpn.4 + 1 1335 c.850G>A c.(850-852)Gac>Aac p.D284N CCR2_uc003cpm.4_Missense_Mutation_p.D284N|CCR2_uc021wxa.1_Missense_Mutation_p.D284N NM_001123041 NP_001116513 P41597 CCR2_HUMAN Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA. 284 JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CAGTCAACTGGACCAAGCCAC 0.473000 147 34 0 0 0.00283554 0 0 KIAA1958 158405 broad.mit.edu 37 9 115337320 115337320 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:115337320G>A uc011lwx.1 + 1 1135 c.960G>A c.(958-960)caG>caA p.Q320Q KIAA1958_uc004bgf.1_Silent_p.Q320Q NM_133465 NP_597722 Q8N8K9 K1958_HUMAN Homo sapiens KIAA1958 (KIAA1958), mRNA. 320 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 CTAACAAACAGATCAGTATCC 0.552000 225 21 0 0 0.00188189 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20493244 20493244 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:20493244C>T uc002wrz.3 - 31 4912 c.4769G>A c.(4768-4770)gGg>gAg p.G1590E RALGAPA2_uc002wry.3_Missense_Mutation_p.G1205E|RALGAPA2_uc010zsg.2_Missense_Mutation_p.G1038E|RALGAPA2_uc002wsa.1_Missense_Mutation_p.G362E NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA. 1590 activation of Ral GTPase activity cytosol|nucleus Ral GTPase activator activity|protein heterodimerization activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GGAGGGCTGCCCTTGGCTGGT 0.463000 33 6 0 0 0.00116845 0 0 GABRB3 2562 broad.mit.edu 37 15 26806161 26806161 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:26806161C>T uc001zbb.3 - 8 1269 c.1166G>A c.(1165-1167)gGa>gAa p.G389E GABRB3_uc021sgg.1_Missense_Mutation_p.G262E|GABRB3_uc021sgh.1_Missense_Mutation_p.G248E|GABRB3_uc001zaz.3_Missense_Mutation_p.G333E|GABRB3_uc001zba.3_Missense_Mutation_p.G333E NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 333 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGGGCCTCTTCCAAAGAAAAT 0.488000 73 9 0 0 0.000274275 0 0 ZNF701 55762 broad.mit.edu 37 19 53085900 53085900 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:53085900C>T uc010ydn.2 + 4 849 c.786C>T c.(784-786)ttC>ttT p.F262F ZNF701_uc002pzs.2_Silent_p.F196F|ZNF701_uc021uyw.1_Silent_p.F262F NM_018260 NP_060730 Q9NV72 ZN701_HUMAN Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA. 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) GGAATAATTTCCTCCAGTCTT 0.388000 50 9 0 0 0.000274275 0 0 COL4A5 1287 broad.mit.edu 37 X 107924160 107924160 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:107924160G>A uc022ccg.1 + 45 4263 c.4061G>A c.(4060-4062)gGg>gAg p.G1354E COL4A5_uc004enz.1_Missense_Mutation_p.G1348E NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 1348 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGCCCTGAGGGGGAACCGGGA 0.443000 Alport syndrome with Diffuse Leiomyomatosis 28 8 0 0 0.000673444 0 0 KIF23 9493 broad.mit.edu 37 15 69737184 69737184 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:69737184C>T uc002asb.3 + 18 2613 c.2435C>T c.(2434-2436)tCa>tTa p.S812L KIF23_uc002asc.3_Missense_Mutation_p.S708L|KIF23_uc010bii.3_Intron|KIF23_uc010ukc.2_Missense_Mutation_p.S525L NM_138555 NP_612565 Q02241 KIF23_HUMAN Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA. 812 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 CACAGACGATCACGCTCTGCA 0.453000 60 6 0 0 0.00116845 0 0 ABCG8 64241 broad.mit.edu 37 2 44099249 44099249 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:44099249G>A uc002rtq.3 + 6 1189 c.1099G>A c.(1099-1101)Gat>Aat p.D367N ABCG8_uc010yoa.2_Missense_Mutation_p.D367N NM_022437 NP_071882 Q9H221 ABCG8_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA. 367 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 p.K366K(1) 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) AGAGACGAAGGATCTTGACGA 0.547000 455 52 0 0 0.00361006 0 0 C6orf89 221477 broad.mit.edu 37 6 36887380 36887380 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:36887380C>T uc003omw.3 + 6 1036 c.873C>T c.(871-873)atC>atT p.I291I C6orf89_uc003omv.3_Silent_p.I178I|C6orf89_uc003omx.3_Silent_p.I284I|C6orf89_uc011dtr.2_Silent_p.I178I NM_152734 NP_689947 Q6UWU4 CF089_HUMAN Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA. 284 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTATTTATCATTGGCAGCG 0.483000 137 12 0 0 0.00244969 0 0 abParts 0 broad.mit.edu 37 22 22453345 22453345 + RNA SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:22453345G>A uc021wml.1 + 6 c.466G>A Parts of antibodies, mostly variable regions. GGTGACCCAGGAGCCATCGTT 0.517000 49 6 0 0 0.00198382 0 0 ABCB7 22 broad.mit.edu 37 X 74296471 74296471 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:74296471G>A uc004ebz.3 - 4 500 c.475C>T c.(475-477)Ccc>Tcc p.P159S ABCB7_uc010nlt.3_Missense_Mutation_p.P118S|ABCB7_uc004eca.3_Missense_Mutation_p.P158S|ABCB7_uc011mqn.2_Missense_Mutation_p.P132S|ABCB7_uc010nls.3_Missense_Mutation_p.P119S NM_004299 NP_004290 O75027 ABCB7_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA. 158 ABC transmembrane type-1. 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 AACATGAAGGGAACCACAATA 0.348000 13 6 0 0 0.00198382 0 0 OTOA 146183 broad.mit.edu 37 16 21737937 21737937 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:21737937C>T uc002djh.3 + 17 1975 c.1974C>T c.(1972-1974)tcC>tcT p.S658S LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.S579S|OTOA_uc002dji.3_Silent_p.S334S|OTOA_uc010vbk.2_Silent_p.S306S NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 672 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TTTTAGATTCCCACAAAAAGA 0.557000 121 7 0 0 0.00198382 0 0 RP1 6101 broad.mit.edu 37 8 55540803 55540803 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:55540803G>A uc003xsd.1 + 3 4509 c.4361G>A c.(4360-4362)aGc>aAc p.S1454N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1454 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) ATAACCAACAGCATGACATCA 0.358000 38 5 0 0 0.000602214 0 0 LPPR1 54886 broad.mit.edu 37 9 104048436 104048436 + Silent SNP C A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:104048436C>A uc004bbb.3 + 3 702 c.303C>A c.(301-303)tcC>tcA p.S101S LPPR1_uc011lvi.2_Silent_p.S77S|LPPR1_uc004bbc.3_Silent_p.S101S|LPPR1_uc010mtc.3_Silent_p.S85S NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA. 101 integral to membrane catalytic activity CAAGAGAATCCCTGATTGCTC 0.383000 55 7 8.12818e-05 0.000239093 0.00198382 1 0 TRAPPC9 83696 broad.mit.edu 37 8 141445257 141445257 + Silent SNP G A A rs138528079 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:141445257G>A uc003yvh.2 - 3 1122 c.1107C>T c.(1105-1107)ttC>ttT p.F369F TRAPPC9_uc003yvj.2_Silent_p.F271F|TRAPPC9_uc003yvi.1_Silent_p.F271F NM_031466 NP_001153844 Q96Q05 TPPC9_HUMAN Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA. 271 cell differentiation Golgi apparatus|endoplasmic reticulum breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TGCTGCCCTGGAACCTCCGAG 0.527000 108 18 0 0 0.00121646 0 0 DIP2B 57609 broad.mit.edu 37 12 51079696 51079696 + Silent SNP A G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:51079696A>G uc001rwv.3 + 10 1554 c.1398A>G c.(1396-1398)aaA>aaG p.K466K DIP2B_uc009zlt.3_5'UTR NM_173602 NP_775873 Q9P265 DIP2B_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA. 466 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 TTTGTCTAAAAGGACTGCCAA 0.378000 54 8 0 0 0.000274275 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042883 75042883 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:75042883C>T uc002ayr.1 + 1 868 c.804C>T c.(802-804)gtC>gtT p.V268V NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 268 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) AGAAAACAGTCCAGGAGCACT 0.612000 66 7 0 0 0.00198382 0 0 SSX3 10214 broad.mit.edu 37 X 48214653 48214653 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:48214653G>A uc004djd.1 - 1 126 c.32C>T c.(31-33)cCc>cTc p.P11L SSX3_uc004dje.3_Missense_Mutation_p.P11L|SSX3_uc010nic.3_Missense_Mutation_p.P11L NM_021014 NP_066294 Q99909 SSX3_HUMAN Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA. 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 ACCAACCGTGGGTCTCCTTGC 0.527000 79 28 0 0 0.00428921 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726189 168726189 + Missense_Mutation SNP C T T rs144099662 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:168726189C>T uc021vsc.1 + 0 640 c.640C>T c.(640-642)Cgg>Tgg p.R214W B3GALT1_uc002udz.1_Missense_Mutation_p.R214W NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA. 214 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.R214R(2) cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 AGGACCGATTCGGGATGTCCG 0.438000 47 5 0 0 0.000602214 0 0 SLC9A4 389015 broad.mit.edu 37 2 103095455 103095455 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:103095455C>T uc002tbz.4 + 1 871 c.414C>T c.(412-414)atC>atT p.I138I NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 138 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity p.P137P(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TGCCACCCATCGTTCTGGAGG 0.612000 66 8 0 0 0.000442599 0 0 GLIPR1L1 256710 broad.mit.edu 37 12 75737609 75737609 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:75737609G>A uc001sxo.3 + 1 357 c.311G>A c.(310-312)gGa>gAa p.G104E CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.3_Missense_Mutation_p.G104E NM_152779 NP_689992 Q6UWM5 GPRL1_HUMAN Homo sapiens GLI pathogenesis-related 1 like 1 (GLIPR1L1), mRNA. 104 extracellular region endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 TGGTTAGGTGGAATAAAGTCA 0.363000 38 7 0 0 0.00307968 0 0 VN1R2 317701 broad.mit.edu 37 19 53762333 53762333 + Nonsense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:53762333G>A uc002qbi.2 + 0 789 c.705G>A c.(703-705)tgG>tgA p.W235* NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA. 235 response to pheromone integral to membrane|plasma membrane pheromone receptor activity p.W235L(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) CTGGCAAATGGAGCAACAACA 0.423000 73 15 0 0 0.00244969 0 0 OR6F1 343169 broad.mit.edu 37 1 247875903 247875903 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:247875903G>A uc001idj.1 - 0 155 c.155C>T c.(154-156)tCc>tTc p.S52F NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA. 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CAACTGATGGGAGGTGCTCAC 0.473000 95 15 0 0 0.00244969 0 0 FCER1A 2205 broad.mit.edu 37 1 159277548 159277548 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:159277548G>A uc001ftq.3 + 5 697 c.600G>A c.(598-600)gaG>gaA p.E200E NM_002001 NP_001992 P12319 FCERA_HUMAN Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA. 200 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CTCCGCGTGAGAAGTACTGGC 0.413000 78 8 0 0 0.000673444 0 0 NAGPA 51172 broad.mit.edu 37 16 5075614 5075614 + Missense_Mutation SNP C G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:5075614C>G uc002cyg.3 - 9 1440 c.1413G>C c.(1411-1413)ttG>ttC p.L471F NAGPA_uc010buc.3_Missense_Mutation_p.L168F|NAGPA_uc002cyh.3_Non-coding_Transcript NM_016256 NP_057340 Q9UK23 NAGPA_HUMAN Homo sapiens N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), mRNA. 471 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) TGGACAGGAGCAAGGACAGGT 0.637000 41 6 0 0 0.00116845 0 0 BPIFB2 80341 broad.mit.edu 37 20 31607505 31607505 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:31607505C>T uc002wyj.3 + 10 1223 c.1029C>T c.(1027-1029)gtC>gtT p.V343V NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA. 343 extracellular region lipid binding TCGTGGAGGTCCTGGCCACAG 0.637000 32 6 0 0 0.00116845 0 0 LILRB5 10990 broad.mit.edu 37 19 54760148 54760148 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:54760148C>T uc010yer.1 - 3 497 c.386G>A c.(385-387)gGa>gAa p.G129E LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.G138E|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Missense_Mutation_p.G138E|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 138 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity p.L129L(1) NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGTCACATTTCCTCCTGAGGC 0.542000 99 14 0 0 0.000566183 0 0 RGS7 6000 broad.mit.edu 37 1 240975321 240975321 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:240975321C>T uc001hyt.2 - 6 529 c.475G>A c.(475-477)Gta>Ata p.V159I RGS7_uc010pyh.2_Missense_Mutation_p.V301I|RGS7_uc010pyj.1_Missense_Mutation_p.V243I|RGS7_uc001hyu.2_Missense_Mutation_p.V327I|RGS7_uc009xgn.1_Missense_Mutation_p.V274I|RGS7_uc001hyv.2_Missense_Mutation_p.V327I|RGS7_uc001hyw.2_Missense_Mutation_p.V327I NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 327 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CATCGTTTTACCCTCTGCTGG 0.388000 111 6 0 0 0.00307968 0 0 POMT2 29954 broad.mit.edu 37 14 77750143 77750143 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:77750143G>A uc001xti.2 - 14 1851 c.1650C>T c.(1648-1650)atC>atT p.I550I POMT2_uc001xth.1_Silent_p.I248I NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA. 550 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) CACATACCCGGATCATGACCA 0.483000 109 9 0 0 0.000442599 0 0 FIBIN 387758 broad.mit.edu 37 11 27016165 27016165 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:27016165G>A uc001mrd.3 + 0 538 c.92G>A c.(91-93)gGg>gAg p.G31E NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA. 31 Golgi apparatus|extracellular region p.G31G(1) breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 ATGTCCAATGGGACTCTGCAC 0.542000 45 7 0 0 0.00198382 0 0 ARAP1 116985 broad.mit.edu 37 11 72416905 72416905 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:72416905G>A uc001osu.3 - 12 1943 c.1754C>T c.(1753-1755)tCc>tTc p.S585F ARAP1_uc001osv.3_Missense_Mutation_p.S585F|ARAP1_uc001osr.3_Missense_Mutation_p.S345F|ARAP1_uc001oss.3_Missense_Mutation_p.S340F|ARAP1_uc009yth.3_Missense_Mutation_p.S340F|ARAP1_uc010rre.2_Missense_Mutation_p.S340F NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 585 Arf-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction Golgi cisterna membrane|cytosol|plasma membrane ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCGCACCTTGGAGACGCCAGC 0.632000 366 34 0 0 0.00170553 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711651 155711651 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:155711651G>A uc002tyv.1 + 2 1527 c.1332G>A c.(1330-1332)ccG>ccA p.P444P KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 444 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.P444S(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) GTTCAGTTCCGGGCAACTCAG 0.428000 58 6 0 0 0.00198382 0 0 PTCD3 55037 broad.mit.edu 37 2 86344204 86344204 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:86344204C>T uc002sqw.2 + 5 402 c.336C>T c.(334-336)tcC>tcT p.S112S PTCD3_uc010ytc.1_Non-coding_Transcript NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA. 112 mitochondrion protein binding NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 CAAAGAAATCCGGGGAGAATG 0.328000 37 4 0 0 0.00024832 0 0 HECW2 57520 broad.mit.edu 37 2 197298104 197298104 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:197298104C>T uc002utm.1 - 1 227 c.44G>A c.(43-45)cGa>cAa p.R15Q NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 15 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.R15Q(4) biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CTGGGGATTTCGACGCCTCAC 0.567000 40 7 0 0 0.00307968 0 0 BAZ1A 11177 broad.mit.edu 37 14 35224118 35224118 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:35224118G>A uc001wsk.3 - 25 4957 c.4389C>T c.(4387-4389)gtC>gtT p.V1463V BAZ1A_uc001wsl.3_Silent_p.V1431V NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA. 1463 Bromo. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AGTAGTCTGGGACCTGTAAAA 0.294000 43 6 0 0 0.00198382 0 0 FCHO1 23149 broad.mit.edu 37 19 17875220 17875220 + Silent SNP G A A rs148025294 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:17875220G>A uc002nhg.3 + 5 435 c.156G>A c.(154-156)gcG>gcA p.A52A FCHO1_uc010ebb.2_Silent_p.A52A|FCHO1_uc002nhh.2_Silent_p.A52A|FCHO1_uc010xpw.1_Silent_p.A2A|FCHO1_uc010ebc.1_Silent_p.A59A NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 52 FCH. NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 AGGCGATGGCGAAACTCTCCA 0.602000 39 7 0 0 0.00307968 0 0 CDH10 1008 broad.mit.edu 37 5 24537681 24537681 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:24537681G>A uc003jgr.2 - 2 840 c.334C>T c.(334-336)Cat>Tat p.H112Y CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 112 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H112Y(2) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTTGTGGCATGAATATCACCT 0.403000 HNSCC(23;0.051) 39 6 0 0 0.00198382 0 0 OR4C3 256144 broad.mit.edu 37 11 48347131 48347131 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:48347131C>T uc010rhv.2 + 0 639 c.639C>T c.(637-639)gcC>gcT p.A213A NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGGAAGTTGCCTGCACCAATA 0.498000 53 6 0 0 0.00307968 0 0 HRNR 388697 broad.mit.edu 37 1 152192792 152192792 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:152192792C>T uc001ezt.1 - 2 1389 c.1313G>A c.(1312-1314)aGc>aAc p.S438N NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 438 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGGCCGGAGCTGGGAGACTG 0.617000 91 8 0 0 0.000274275 0 0 FREM2 341640 broad.mit.edu 37 13 39266139 39266139 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:39266139C>T uc001uwv.3 + 0 4967 c.4658C>T c.(4657-4659)cCt>cTt p.P1553L NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1553 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTGATTACTCCTTTTGAGCTC 0.453000 92 12 0 0 0.00136819 0 0 GABRA3 2556 broad.mit.edu 37 X 151376473 151376473 + Splice_Site SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:151376473C>T uc010ntk.1 - 7 1018 c.778_splice c.e7+1 p.G260_splice NM_000808 NP_000799 P34903 GBRA3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. 260 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGTTAAATACCTGTACTAGAC 0.378000 22 11 0 0 0.00136819 0 0 KATNB1 10300 broad.mit.edu 37 16 57785579 57785579 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:57785579C>T uc002eml.1 + 6 833 c.459C>T c.(457-459)ctC>ctT p.L153L NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA. 153 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) TGCGGTGTCTCCGGTTCAGCC 0.687000 77 12 0 0 0.00185496 0 0 MXRA5 25878 broad.mit.edu 37 X 3240713 3240713 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:3240713G>A uc004crg.4 - 4 3170 c.3013C>T c.(3013-3015)Ccc>Tcc p.P1005S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1005 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CAGATGGTGGGGGTTGGAGTA 0.463000 61 31 0 0 0.00327116 0 0 LPAR4 2846 broad.mit.edu 37 X 78011429 78011429 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:78011429G>A uc022bzj.1 + 0 1063 c.1063G>A c.(1063-1065)Gat>Aat p.D355N LPAR4_uc010nme.3_Missense_Mutation_p.D355N NM_005296 NP_005287 Q99677 LPAR4_HUMAN Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA. 355 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 GGAAGTGAGTGATCAAACAAC 0.398000 16 7 0 0 0.00198382 0 0 THSD7B 80731 broad.mit.edu 37 2 138169256 138169256 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:138169256G>A uc002tva.1 + 12 2680 c.2680G>A c.(2680-2682)Gaa>Aaa p.E894K THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.E784K NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCCTTGTGATGAATTTATATC 0.458000 109 17 0 0 0.000566183 0 0 NRG1 3084 broad.mit.edu 37 8 32621406 32621406 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:32621406C>T uc003xiv.2 + 11 1926 c.1409C>T c.(1408-1410)cCc>cTc p.P470L NRG1_uc022ats.1_Missense_Mutation_p.P420L|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.P475L|NRG1_uc003xiw.2_Missense_Mutation_p.P467L|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.P212L|NRG1_uc010lvs.2_Missense_Mutation_p.P212L|NRG1_uc010lvp.2_Missense_Mutation_p.P424L|NRG1_uc010lvq.2_Missense_Mutation_p.P400L|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.P313L|NRG1_uc003xja.2_Missense_Mutation_p.P281L NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 470 Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GCGGTCAGCCCCTTCATGGAA 0.567000 57 9 0 0 0.000274275 0 0 TLN2 83660 broad.mit.edu 37 15 63000710 63000710 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:63000710C>T uc002alb.4 + 17 2182 c.2182C>T c.(2182-2184)Ccc>Tcc p.P728S NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 728 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GGTTGTGAGCCCCACTATTAG 0.602000 80 9 0 0 0.000442599 0 0 SNED1 25992 broad.mit.edu 37 2 241991542 241991542 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:241991542C>T uc002wah.1 + 13 1937 c.1937C>T c.(1936-1938)cCc>cTc p.P646L NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA. 646 EGF-like 9. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TGTGACTGTCCCCCAGGCTTC 0.612000 55 7 0 0 0.00307968 0 0 OR7E24 26648 broad.mit.edu 37 19 9361896 9361896 + Silent SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9361896G>A uc002mlb.1 + 0 177 c.177G>A c.(175-177)ggG>ggA p.G59G NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 CGGTGCTGGGGAACCTGCTCA 0.577000 46 4 0 0 0.00024832 0 0 OR2M1P 388762 broad.mit.edu 37 1 248285733 248285733 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248285733C>T uc001idy.1 + 0 296 c.296C>T c.(295-297)tCc>tTc p.S99F Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA. TTTTCCTTCTCCTACTGTGGG 0.418000 179 9 0 0 0.000274275 0 0 PDZD2 23037 broad.mit.edu 37 5 31799732 31799732 + Missense_Mutation SNP A G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:31799732A>G uc003jhl.3 + 1 765 c.377A>G c.(376-378)aAg>aGg p.K126R PDZD2_uc003jhm.3_Missense_Mutation_p.K126R NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 126 PDZ 1. 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 GAGCTGAGGAAGAACAGCCCA 0.587000 61 13 0 0 0.00244969 0 0 RASSF6 166824 broad.mit.edu 37 4 74442374 74442374 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:74442374G>A uc003hhd.1 - 8 1015 c.892C>T c.(892-894)Cgc>Tgc p.R298C RASSF6_uc003hhc.1_Missense_Mutation_p.R266C|RASSF6_uc010iik.1_Missense_Mutation_p.R232C|RASSF6_uc010iil.1_Missense_Mutation_p.R254C NM_201431 NP_803876 Q6ZTQ3 RASF6_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA. 298 Ras-associating. apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) AGGAAAATGCGAGCATTCTTT 0.438000 199 24 0 0 0.00332997 0 0 RPRD2 23248 broad.mit.edu 37 1 150429989 150429989 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:150429989C>T uc009wlr.3 + 7 1297 c.1096C>T c.(1096-1098)Cgt>Tgt p.R366C RPRD2_uc010pcc.1_Missense_Mutation_p.R340C|RPRD2_uc001eup.4_Missense_Mutation_p.R340C NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 366 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GACAGATAATCGTGATGTGGA 0.428000 299 29 0 0 0.001512 0 0 COL19A1 1310 broad.mit.edu 37 6 70897825 70897825 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:70897825G>A uc003pfc.1 + 46 3020 c.2903G>A c.(2902-2904)gGa>gAa p.G968E NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 968 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGTGAACGGGGAAAACCAGGC 0.527000 81 5 0 0 0.00116845 0 0 KIAA1383 54627 broad.mit.edu 37 1 232942478 232942478 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:232942478G>A uc001hvh.2 + 0 1841 c.1709G>A c.(1708-1710)aGg>aAg p.R570K NM_019090 NP_061963 Q9P2G4 K1383_HUMAN Homo sapiens KIAA1383 (KIAA1383), mRNA. 428 breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1) 20 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) TGGTTATATAGGACTGAGGAT 0.448000 54 6 0 0 0.00198382 0 0 KIAA1841 84542 broad.mit.edu 37 2 61297492 61297492 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:61297492C>T uc002saw.4 + 2 310 c.7C>T c.(7-9)Cgt>Tgt p.R3C KIAA1841_uc002sax.4_5'UTR|KIAA1841_uc002say.3_Missense_Mutation_p.R3C|KIAA1841_uc002sav.4_Missense_Mutation_p.R3C NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA. 3 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) AAAGATGAGTCGTGGATATTC 0.338000 69 6 0 0 0.00307968 0 0 DRD1 1812 broad.mit.edu 37 5 174868893 174868893 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:174868893C>T uc003mcz.3 - 1 2155 c.1210G>A c.(1210-1212)Gag>Aag p.E404K DRD1_uc021yia.1_Missense_Mutation_p.E404K NM_000794 NP_000785 P21728 DRD1_HUMAN Homo sapiens dopamine receptor D1 (DRD1), mRNA. 404 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GCTGCCTCCTCCTTTTTCAGG 0.542000 60 6 0 0 0.00116845 0 0 MUC21 394263 broad.mit.edu 37 6 30955398 30955398 + Silent SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:30955398C>T uc003nsh.2 + 1 1697 c.1446C>T c.(1444-1446)ctC>ctT p.L482L MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.L466L NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN Homo sapiens mucin 21, cell surface associated (MUC21), mRNA. 482 integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AAATCTTCCTCATCACCCTGG 0.562000 34 7 0 0 0.00198382 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278928 36278928 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:36278928C>T uc002obs.2 + 20 3122 c.2978C>T c.(2977-2979)gCc>gTc p.A993V ARHGAP33_uc002obt.2_Missense_Mutation_p.A990V|ARHGAP33_uc002obv.1_Missense_Mutation_p.A742V NM_052948 NP_443180 O14559 RHG33_HUMAN Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA. 1154 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GGCTACTCAGCCCCCCAGCAC 0.662000 37 7 0 0 0.00307968 0 0 ZNF544 27300 broad.mit.edu 37 19 58772598 58772598 + Missense_Mutation SNP A G G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:58772598A>G uc010euo.3 + 6 1100 c.626A>G c.(625-627)gAt>gGt p.D209G ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.D181G|ZNF544_uc010yhy.2_Missense_Mutation_p.D181G|ZNF544_uc002qrt.4_Missense_Mutation_p.D67G|ZNF544_uc002qru.4_Missense_Mutation_p.D67G|BC063675_uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN Homo sapiens zinc finger protein 544 (ZNF544), mRNA. 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) AATGGAGCAGATGGGAAGCAC 0.378000 52 14 0 0 0.00316338 0 0 OR8B8 26493 broad.mit.edu 37 11 124310318 124310318 + Missense_Mutation SNP G A A rs1893135 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:124310318G>A uc010sal.2 - 0 664 c.664C>T c.(664-666)Ctc>Ttc p.L222F NM_012378 NP_036510 Q15620 OR8B8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ATGCTGGAGAGAATGAGAGCA 0.483000 141 13 0 0 0.00185496 0 0 JAG1 182 broad.mit.edu 37 20 10626702 10626702 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:10626702C>T uc002wnw.2 - 14 2432 c.1916G>A c.(1915-1917)aGa>aAa p.R639K JAG1_uc010gcd.1_Missense_Mutation_p.R197K NM_000214 NP_000205 P78504 JAG1_HUMAN Homo sapiens jagged 1 (JAG1), mRNA. 639 EGF-like 11; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane Notch binding|calcium ion binding|growth factor activity|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 GCCACCGTTTCTACAAGGGTT 0.463000 Alagille Syndrome 107 11 0 0 0.000978159 0 0 TTC31 64427 broad.mit.edu 37 2 74720143 74720143 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:74720143C>T uc002slt.2 + 12 1381 c.1358C>T c.(1357-1359)tCc>tTc p.S453F TTC31_uc002slu.2_Missense_Mutation_p.S307F NM_022492 NP_071937 Q49AM3 TTC31_HUMAN Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA. 453 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GGCCTACCTTCCCTCAGGTGC 0.617000 219 26 0 0 0.000878237 0 0 OR5R1 219479 broad.mit.edu 37 11 56185662 56185662 + Missense_Mutation SNP C T T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:56185662C>T uc010rji.2 - 0 47 c.47G>A c.(46-48)gGa>gAa p.G16E OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GTTGGTAATTCCTTTCAGAAT 0.383000 77 11 0 0 0.000673444 0 0 CFI 3426 broad.mit.edu 37 4 110687842 110687842 + Nonsense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:110687842G>A uc011cft.2 - 1 404 c.196C>T c.(196-198)Cag>Tag p.Q66* CFI_uc003hzr.4_Nonsense_Mutation_p.Q66* NM_000204 NP_000195 P05156 CFAI_HUMAN Homo sapiens complement factor I (CFI), mRNA. 66 Kazal-like. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TTTGGGCACTGATACGGTAGT 0.453000 65 6 0 0 0.00198382 0 0 AKAP9 10142 broad.mit.edu 37 7 91715708 91715708 + Nonsense_Mutation SNP T A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:91715708T>A uc003ulg.3 + 36 9416 c.9191T>A c.(9190-9192)tTg>tAg p.L3064* AKAP9_uc003ulf.3_Nonsense_Mutation_p.L3056*|AKAP9_uc003uli.3_Nonsense_Mutation_p.L2687*|AKAP9_uc003ulj.3_Nonsense_Mutation_p.L834*|AKAP9_uc003ulk.3_Nonsense_Mutation_p.L339* NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 3068 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTAAACTGTTTGGAACAGAGA 0.333000 T BRAF papillary thyroid 218 18 0 0 0.000958276 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125859 12125859 + Nonsense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:12125859G>A uc003nac.3 + 3 6010 c.5831G>A c.(5830-5832)tGg>tAg p.W1944* HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 1944 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AACTTTACATGGTGTTATCTC 0.443000 85 13 0 0 0.00316338 0 0 IFT122 55764 broad.mit.edu 37 3 129207226 129207226 + Missense_Mutation SNP G A A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:129207226G>A uc003eml.3 + 16 2337 c.2131G>A c.(2131-2133)Gaa>Aaa p.E711K IFT122_uc003emm.3_Missense_Mutation_p.E660K|IFT122_uc003emn.3_Missense_Mutation_p.E601K|IFT122_uc003emo.3_Missense_Mutation_p.E549K|IFT122_uc003emp.3_Missense_Mutation_p.E510K|IFT122_uc010htc.3_Missense_Mutation_p.E652K|IFT122_uc011bky.2_Missense_Mutation_p.E451K|IFT122_uc011bla.2_Missense_Mutation_p.E451K|IFT122_uc003emr.3_Missense_Mutation_p.E451K|IFT122_uc010hte.3_Missense_Mutation_p.E40K|IFT122_uc003ems.3_Missense_Mutation_p.E59K|IFT122_uc011bkx.1_Missense_Mutation_p.E500K|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_Missense_Mutation_p.E139K NM_052985 NP_443711 Q9HBG6 IF122_HUMAN Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA. 660 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TTTAGATTTTGAAACAGCAAA 0.517000 55 16 0 0 0.000566183 0 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG - - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:1850628_1850636delAGCGGCAGG uc001aij.2 - 0 105_113 c.69_77delCCTGCCGCT c.(67-78)ctcctgccgctg>ctg p.23_26LLPL>L TMEM52_uc001aii.2_5'Flank NM_178545 NP_848640 Q8NDY8 TMM52_HUMAN Homo sapiens transmembrane protein 52 (TMEM52), mRNA. 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 --- 2 --- --- 7 --- CCDC30 728621 broad.mit.edu 37 1 43002200 43002201 + Frame_Shift_Del DEL AG - - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:43002200_43002201delAG uc009vwk.1 + 1 155_156 c.45_46delAG c.(43-48)aaagagfs p.K15fs CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Frame_Shift_Del_p.K15fs NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA. 15 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 AGTGGTCAAAAGAGAGAGAGAG 0.356 --- 79 --- --- 7 --- FAM193A 8603 broad.mit.edu 37 4 2701860 2701861 + Frame_Shift_Del DEL CT - - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:2701860_2701861delCT uc010ick.3 + 17 3689_3690 c.3688_3689delCT c.(3688-3690)ctcfs p.L1230fs FAM193A_uc003gfd.3_Frame_Shift_Del_p.L1030fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.L1052fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.L1030fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.L1030fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.L884fs NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 1030 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GCATGAGCCACTCTCTTTTTTC 0.574 --- 114 --- --- 10 --- SHB 6461 broad.mit.edu 37 9 38068209 38068209 + Frame_Shift_Del DEL C - - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:38068209delC uc004aax.3 - 0 1002 c.434delG c.(433-435)ggcfs p.G145fs NM_003028 NP_003019 Q15464 SHB_HUMAN Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA. 145 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) GGCCCCCGCGCCCGAGGAGGC 0.781 --- 4 --- --- 2 --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T - - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr21:34799292delT uc002yrp.4 + 3 1162 c.514delT c.(514-516)tttfs p.F172fs NM_005534 NP_005525 P38484 INGR2_HUMAN Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA. 172 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 --- 450 --- --- 7 --- DDX3X 1654 broad.mit.edu 37 X 41203517 41203523 + Frame_Shift_Del DEL CTTGCGT - - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:41203517_41203523delCTTGCGT uc004dfe.3 + 9 1745_1751 c.890_896delCTTGCGT c.(889-897)ccttgcgtgfs p.P297fs DDX3X_uc010nhf.1_Frame_Shift_Del_p.P281fs|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Frame_Shift_Del_p.P297fs|DDX3X_uc011mkq.2_Frame_Shift_Del_p.P281fs|DDX3X_uc011mkr.2_Frame_Shift_Del_p.P297fs|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript NM_001356 NP_001347 O00571 DDX3X_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA. 297 Helicase ATP-binding.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein 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 AGAGTTCGTCCTTGCGTGGTTTATGGT 0.377 HNSCC(61;0.18) --- 140 --- --- 30 ---