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 LRRC10 376132 broad.mit.edu 37 12 70003788 70003788 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:70003788G>A uc001svc.3 - 0 1155 c.831C>T c.(829-831)tcC>tcT p.S277S NM_201550 NP_963844 Q5BKY1 LRC10_HUMAN Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA. 277 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) AAGCTCCTCAGGAGTTGGTAG 0.557000 22 6 0 0 8.12818e-05 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431932 140431932 + Nonsense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:140431932C>T uc003lik.1 + 0 954 c.877C>T c.(877-879)Cag>Tag p.Q293* NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 293 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAGACGTTTCAGATTGACCC 0.468000 28 20 0 0 0.00121646 0 0 GANC 2595 broad.mit.edu 37 15 42631883 42631883 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:42631883C>T uc001zpi.3 + 16 2174 c.1860C>T c.(1858-1860)ttC>ttT p.F620F NM_198141 NP_937784 Q8TET4 GANC_HUMAN Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA. 620 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TAGGCGGGTTCATTGGGAATC 0.527000 66 18 0 0 0.00152264 0 0 STRC 161497 broad.mit.edu 37 15 43896314 43896314 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:43896314C>T uc001zsf.3 - 21 4333 c.4255G>A c.(4255-4257)Gaa>Aaa p.E1419K STRC_uc010bdl.3_Missense_Mutation_p.E646K|STRC_uc001zse.3_5'UTR NM_153700 NP_714544 Q7RTU9 STRC_HUMAN Homo sapiens stereocilin (STRC), mRNA. 1419 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGCTGCTTTTCTAGAAGCCGC 0.587000 10 4 0 0 0.00024832 0 0 SUGP2 10147 broad.mit.edu 37 19 19135649 19135649 + Missense_Mutation SNP C G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:19135649C>G uc002nkz.1 - 2 1570 c.1550G>C c.(1549-1551)gGc>gCc p.G517A SUGP2_uc002nkx.2_Missense_Mutation_p.G503A|SUGP2_uc002nla.1_Missense_Mutation_p.G503A|SUGP2_uc002nlb.2_Missense_Mutation_p.G503A|SUGP2_uc010xqk.1_Missense_Mutation_p.G272A NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA. 503 RNA splicing|mRNA processing nucleus RNA binding p.F517F(1) NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ATCTTGCAGGCCGACAGCTTC 0.512000 66 44 0 0 0.000781405 0 0 LCE3A 353142 broad.mit.edu 37 1 152595489 152595489 + Missense_Mutation SNP T A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:152595489T>A uc010pdt.2 - 0 91 c.91A>T c.(91-93)Agc>Tgc p.S31C NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN Homo sapiens late cornified envelope 3A (LCE3A), mRNA. 31 keratinization endometrium(1)|lung(5) 6 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGGGCACAGCTGGAGGAAGCT 0.652000 15 24 0 0 0.00047179 0 0 ST18 9705 broad.mit.edu 37 8 53085104 53085104 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:53085104G>A uc003xqz.2 - 4 473 c.317C>T c.(316-318)tCa>tTa p.S106L ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.S71L|ST18_uc011lds.1_Missense_Mutation_p.S11L|ST18_uc003xra.2_Missense_Mutation_p.S106L|ST18_uc003xrb.2_Missense_Mutation_p.S106L NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 106 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) TTGTGCAGTTGAAAGAAGACT 0.328000 41 14 0 0 0.000308642 0 0 ENPEP 2028 broad.mit.edu 37 4 111470695 111470695 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:111470695C>T uc003iab.4 + 15 2579 c.2237C>T c.(2236-2238)tCc>tTc p.S746F NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 746 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) TTACTCCGTTCCTCCGTGTTA 0.383000 25 31 0 0 0.000692331 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518814 113518814 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:113518814C>T uc010ljy.1 - 3 2364 c.2333G>A c.(2332-2334)gGg>gAg p.G778E NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 778 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ATCATTTCTCCCTTCATGTGG 0.388000 59 31 0 0 0.000491102 0 0 SERPINI1 5274 broad.mit.edu 37 3 167510377 167510377 + Splice_Site SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:167510377G>A uc003ffa.4 + 4 680 c.482_splice c.e4-1 p.N161_splice SERPINI1_uc003ffb.4_Splice_Site_p.N161_splice NM_001122752 NP_005016 Q99574 NEUS_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA. 161 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 TTCCTAAATAGATCTGGTGAA 0.398000 27 20 0 0 0.00188189 0 0 UAP1 6675 broad.mit.edu 37 1 162567623 162567623 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:162567623C>T uc001gce.4 + 8 1729 c.1400C>T c.(1399-1401)tCt>tTt p.S467F NM_003115 NP_003106 Q16222 UAP1_HUMAN Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA. 484 UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity p.I466M(1) breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TGTGAAATCTCTCCTCTTATC 0.338000 65 120 0 0 0.000781405 0 0 LAMA1 284217 broad.mit.edu 37 18 7080343 7080343 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:7080343G>A uc002knm.3 - 1 269 c.175C>T c.(175-177)Cgg>Tgg p.R59W LAMA1_uc010wzj.2_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 59 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGACGGGCCGACCTGGCACA 0.547000 48 32 0 0 0.000491102 0 0 FAM48B2 170067 broad.mit.edu 37 X 24330958 24330958 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:24330958C>T uc011mjw.2 - 0 475 c.475G>A c.(475-477)Ggt>Agt p.G159S NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA. 159 breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1) 23 CTTTGGTAACCAGGAGGTTGC 0.468000 92 46 0 0 0.000781405 0 0 NAALAD2 10003 broad.mit.edu 37 11 89891347 89891347 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:89891347G>A uc001pdf.4 + 6 940 c.831G>A c.(829-831)gtG>gtA p.V277V NAALAD2_uc009yvx.3_Silent_p.V277V|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Silent_p.V277V|NAALAD2_uc001pde.3_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 277 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity p.G276*(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AAGAAGGAGTGGGAATCCCCC 0.313000 112 53 0 0 0.000781405 0 0 EMBP1 647121 broad.mit.edu 37 1 121306583 121306583 + Missense_Mutation SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:121306583T>C uc009wht.1 + 0 160 c.131T>C c.(130-132)aTt>aCt p.I44T EMBP1_uc001eiu.1_Non-coding_Transcript Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA. GAAGAACACATTGAGCTTGTG 0.433000 26 25 0 0 0.00127121 0 0 KLC2 64837 broad.mit.edu 37 11 66030338 66030338 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:66030338C>T uc010rov.1 + 4 826 c.583C>T c.(583-585)Ccg>Tcg p.P195S KLC2_uc010row.1_Missense_Mutation_p.P195S|KLC2_uc001ohb.2_Missense_Mutation_p.P195S|KLC2_uc010rox.1_Missense_Mutation_p.P118S|KLC2_uc001ohc.2_Missense_Mutation_p.P195S|KLC2_uc001ohd.2_Missense_Mutation_p.P118S|KLC2_uc001ohe.1_Missense_Mutation_p.P56S NM_001134775 NP_073733 Q9H0B6 KLC2_HUMAN Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA. 195 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 CTACGAGATCCCGGCCCGGCT 0.637000 42 15 0 0 0.000566183 0 0 CERCAM 51148 broad.mit.edu 37 9 131198057 131198057 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:131198057C>T uc004buz.4 + 11 2059 c.1661C>T c.(1660-1662)cCa>cTa p.P554L CERCAM_uc004buy.1_Missense_Mutation_p.P476L|CERCAM_uc010mxz.3_Missense_Mutation_p.P476L NM_016174 NP_057258 Q5T4B2 GT253_HUMAN Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA. 554 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 ACATCCTCTCCATGGGATGAT 0.687000 10 10 0 0 0.00136819 0 0 KLHL24 54800 broad.mit.edu 37 3 183368779 183368779 + Missense_Mutation SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:183368779T>C uc003flv.3 + 2 930 c.635T>C c.(634-636)cTt>cCt p.L212P KLHL24_uc003flw.3_Missense_Mutation_p.L212P|KLHL24_uc003flx.3_Missense_Mutation_p.L212P NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA. 212 BACK. axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AAAGATGAACTTATTGATTAT 0.378000 71 28 0 0 0.000491102 0 0 ZNF284 342909 broad.mit.edu 37 19 44586179 44586179 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:44586179C>T uc002oyg.1 + 3 372 c.156C>T c.(154-156)tcC>tcT p.S52S ZNF284_uc010ejd.2_Non-coding_Transcript NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN Homo sapiens zinc finger protein 284 (ZNF284), mRNA. 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) ATCAACTTTCCCACCGAGATA 0.403000 40 11 0 0 0.00136819 0 0 ATG2A 23130 broad.mit.edu 37 11 64662526 64662526 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:64662526G>A uc001obx.3 - 40 5851 c.5736C>T c.(5734-5736)ctC>ctT p.L1912L AB429224_uc009ypx.3_5'Flank|ATG2A_uc001obw.3_Silent_p.L677L NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 1912 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GCATGCCCCCGAGCAGGCTGG 0.706000 32 25 0 0 0.000814825 0 0 DNAJB8 165721 broad.mit.edu 37 3 128182017 128182017 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:128182017G>A uc003ekk.1 - 2 1733 c.72C>T c.(70-72)cgC>cgT p.R24R DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Silent_p.R24R NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA. 24 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) GGGCCAGCTTGCGGTAGGCTT 0.587000 63 35 0 0 0.000953801 0 0 C2CD3 26005 broad.mit.edu 37 11 73760455 73760455 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:73760455G>A uc001ouu.2 - 26 5515 c.5288C>T c.(5287-5289)tCc>tTc p.S1763F C2CD3_uc001out.3_Non-coding_Transcript NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 1763 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CTCCAAAGGGGAGACAGCAAC 0.488000 36 15 0 0 0.000422831 0 0 FAT2 2196 broad.mit.edu 37 5 150947457 150947458 + Missense_Mutation DNP GG TT TT TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:150947457_150947458GG>TT uc003lue.4 - 0 1048_1049 c.1035_1036CC>AA c.(1033-1038)tcccag>tcAAag p.Q346K FAT2_uc010jhx.1_Missense_Mutation_p.Q346K NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 346 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCTGATCTGGGAATAAAAAT 0.505000 89 7 0 0 6.4e-05 0 0 DSP 1832 broad.mit.edu 37 6 7580076 7580076 + Missense_Mutation SNP A T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:7580076A>T uc003mxp.1 + 22 3932 c.3653A>T c.(3652-3654)aAg>aTg p.K1218M DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.K1218M NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1218 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 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) AACATTACGAAGACCACCATC 0.358000 27 33 0 0 0.000409698 0 0 COL27A1 85301 broad.mit.edu 37 9 116945341 116945341 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:116945341C>T uc011lxl.2 + 4 2002 c.2002C>T c.(2002-2004)Cct>Tct p.P668S COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.P518S NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 668 Collagen-like 1.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TCTCCCCGGCCCTCCTGGAGC 0.552000 39 30 0 0 0.000692331 0 0 POLG 5428 broad.mit.edu 37 15 89876715 89876715 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:89876715C>T uc002bns.4 - 1 553 c.271G>A c.(271-273)Gga>Aga p.G91R POLG_uc002bnr.4_Missense_Mutation_p.G91R|TRNA_Arg_uc021sue.1_5'Flank NM_002693 NP_002684 P54098 DPOG1_HUMAN Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA. 91 DNA-dependent DNA replication|base-excision repair, gap-filling|cell death mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) ATCTCCCCTCCTTGCCCGAAG 0.682000 DNA polymerases (catalytic subunits) 11 4 0 0 0.00024832 0 0 LUZP1 7798 broad.mit.edu 37 1 23420592 23420592 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:23420592C>T uc001bgk.2 - 3 713 c.163G>A c.(163-165)Gaa>Aaa p.E55K LUZP1_uc010odv.1_Missense_Mutation_p.E55K|LUZP1_uc001bgl.3_Missense_Mutation_p.E55K|LUZP1_uc001bgm.1_Missense_Mutation_p.E55K NM_033631 NP_361013 Q86V48 LUZP1_HUMAN Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA. 55 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTGCTACCTTCTGCCTGAATC 0.517000 53 50 0 0 0.000781405 0 0 PLCG1 5335 broad.mit.edu 37 20 39794389 39794389 + Silent SNP C T T rs146548575 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:39794389C>T uc002xjp.1 + 15 1843 c.1722C>T c.(1720-1722)atC>atT p.I574I PLCG1_uc002xjo.1_Silent_p.I574I|PLCG1_uc010zwe.1_Silent_p.I200I|PLCG1_uc010ggf.3_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA. 574 SH2 1. T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) AGTACTGCATCGAGACCGGAG 0.597000 28 18 0 0 0.00121646 0 0 SOX7 83595 broad.mit.edu 37 8 10583576 10583576 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:10583576G>A uc011kwz.2 - 5 1028 c.995C>T c.(994-996)tCt>tTt p.S332F SOX7_uc003wtf.3_Missense_Mutation_p.S280F NM_031439 NP_113627 Q9BT81 SOX7_HUMAN Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA. 280 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding p.F332F(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) ATAGGCAGGAGATGGGGGACA 0.677000 12 10 0 0 0.000673444 0 0 TCF4 6925 broad.mit.edu 37 18 53128261 53128261 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:53128261G>A uc002lga.3 - 5 659 c.599C>T c.(598-600)tCc>tTc p.S200F TCF4_uc002lfy.2_Missense_Mutation_p.S56F|TCF4_uc010xdx.1_Missense_Mutation_p.S74F|TCF4_uc021ukj.1_Missense_Mutation_p.S98F|TCF4_uc021ukk.1_Missense_Mutation_p.S98F|TCF4_uc021ukl.1_Missense_Mutation_p.S96F|TCF4_uc002lfz.2_Missense_Mutation_p.S98F|TCF4_uc010dph.1_Missense_Mutation_p.S98F|TCF4_uc010dpi.3_Missense_Mutation_p.S98F|TCF4_uc010xdy.1_Missense_Mutation_p.S74F|TCF4_uc002lgc.4_Missense_Mutation_p.S19F NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 98 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TTGTATTCTGGAATTGACAAA 0.388000 19 11 0 0 0.000978159 0 0 C20orf26 26074 broad.mit.edu 37 20 20037317 20037317 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:20037317C>T uc002wru.3 + 1 134 c.20C>T c.(19-21)cCa>cTa p.P7L C20orf26_uc010gcw.2_Intron|C20orf26_uc010zse.2_Missense_Mutation_p.P7L|C20orf26_uc010zsf.1_Missense_Mutation_p.P7L|CRNKL1_uc002wrs.3_5'Flank|CRNKL1_uc002wrt.1_5'Flank NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 7 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CTCACTTCTCCAAGAGGAAAG 0.358000 57 31 0 0 0.000692331 0 0 C14orf181 0 broad.mit.edu 37 14 69262883 69262883 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:69262883C>T uc021rvf.1 - 0 129 c.129G>A c.(127-129)agG>agA p.R43R ZFP36L1_uc001xki.2_5'Flank|ZFP36L1_uc001xkh.2_5'Flank|ZFP36L1_uc021rve.1_5'UTR Synthetic construct DNA, clone: pF1KE0588, Homo sapiens C14orf181 gene for chromosome 14 open reading frame 181, without stop codon, in Flexi system. NS(1)|cervix(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399) GGAGCGCGTCCCTTCGTGGGG 0.662000 29 16 0 0 0.000958276 0 0 STXBP5L 9515 broad.mit.edu 37 3 121100155 121100155 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:121100155C>T uc003eec.4 + 22 2575 c.2435C>T c.(2434-2436)tCc>tTc p.S812F STXBP5L_uc011bji.2_Missense_Mutation_p.S788F NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 812 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CGAGAAAATTCCTATAATCGT 0.284000 66 37 0 0 0.00111076 0 0 DNAH11 8701 broad.mit.edu 37 7 21721170 21721170 + Nonsense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:21721170C>T uc003svc.3 + 30 5381 c.5350C>T c.(5350-5352)Cag>Tag p.Q1784* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 1784 Stem (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 CTAGATTTCTCAGCTGAATAC 0.378000 Kartagener syndrome 28 8 0 0 0.000157383 0 0 PYGL 5836 broad.mit.edu 37 14 51372192 51372192 + Missense_Mutation SNP T A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:51372192T>A uc001wyu.3 - 19 2589 c.2462A>T c.(2461-2463)tAt>tTt p.Y821F PYGL_uc010tqq.2_Missense_Mutation_p.Y787F NM_002863 NP_002854 P06737 PYGL_HUMAN Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA. 821 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) GTTTTGGGCATATTCTTTAAT 0.383000 83 25 0 0 0.000586117 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 37 5 0 0 0.000157383 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061916 13061916 + Missense_Mutation SNP C T T rs150619249 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:13061916C>T uc001rba.3 + 1 1383 c.733C>T c.(733-735)Ctc>Ttc p.L245F NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA. 245 Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TGACACCATCCTCAGCTCCGC 0.552000 23 18 0 0 0.000958276 0 0 ATAD2 29028 broad.mit.edu 37 8 124346237 124346237 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:124346237G>A uc003yqh.4 - 23 3467 c.3359C>T c.(3358-3360)cCg>cTg p.P1120L ATAD2_uc011lii.2_Missense_Mutation_p.P911L|ATAD2_uc003yqi.4_Non-coding_Transcript NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA. 1120 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity p.P1120P(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTAGTAAGACGGGGCATATTT 0.378000 95 24 0 0 0.000586117 0 0 GRM6 2916 broad.mit.edu 37 5 178413955 178413955 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:178413955C>T uc003mjr.3 - 6 1563 c.1384G>A c.(1384-1386)Gag>Aag p.E462K GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.E45K|GRM6_uc003mjs.1_Missense_Mutation_p.E82K NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 462 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TCTCCGTTCTCGTTGAACATC 0.657000 5 4 0 0 0.000602214 0 0 GAPVD1 26130 broad.mit.edu 37 9 128064945 128064945 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:128064945C>T uc004bpp.3 + 2 1029 c.869C>T c.(868-870)aCc>aTc p.T290I GAPVD1_uc004bpo.3_Missense_Mutation_p.T290I|GAPVD1_uc011lzs.1_Missense_Mutation_p.T290I|GAPVD1_uc004bpq.3_Missense_Mutation_p.T290I|GAPVD1_uc010mwx.3_Missense_Mutation_p.T290I|GAPVD1_uc004bpr.3_Missense_Mutation_p.T290I|GAPVD1_uc004bps.3_Missense_Mutation_p.T290I|GAPVD1_uc010mwy.1_Missense_Mutation_p.T149I NM_015635 NP_056450 Q14C86 GAPD1_HUMAN Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA. 290 Ras-GAP. endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 ATGTACAAAACCCTCTCCTGT 0.433000 61 31 0 0 0.000409698 0 0 SH3TC2 79628 broad.mit.edu 37 5 148389867 148389867 + Missense_Mutation SNP G T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:148389867G>T uc003lpu.3 - 13 3445 c.3293C>A c.(3292-3294)aCc>aAc p.T1098N SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.T742N|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.T645N|SH3TC2_uc010jgx.3_Missense_Mutation_p.T1091N NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. 1098 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGTGGCGGGTCCCATTGAA 0.552000 18 24 5.77227e-19 4.94393e-18 0.001512 1 0 MTA3 57504 broad.mit.edu 37 2 42931360 42931360 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:42931360C>T uc002rso.1 + 12 1551 c.881C>T c.(880-882)tCc>tTc p.S294F MTA3_uc002rsp.1_Missense_Mutation_p.S294F|MTA3_uc002rsq.3_Missense_Mutation_p.S351F|MTA3_uc021vgm.1_Missense_Mutation_p.S39F NM_020744 NP_065795 Q9BTC8 MTA3_HUMAN Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA. 351 SANT. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1) 15 AACCAAATATCCACTAGTAAT 0.418000 18 13 0 0 0.00136819 0 0 POSTN 10631 broad.mit.edu 37 13 38143461 38143461 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:38143461C>T uc001uwo.4 - 20 2525 c.2407G>A c.(2407-2409)Gaa>Aaa p.E803K POSTN_uc010tet.2_Missense_Mutation_p.E304K|POSTN_uc001uwp.4_Missense_Mutation_p.E746K|POSTN_uc001uwr.3_Intron|POSTN_uc001uwq.3_Intron|POSTN_uc010teu.1_Missense_Mutation_p.E776K|POSTN_uc010tev.1_Missense_Mutation_p.E716K|POSTN_uc010tew.1_Intron NM_006475 NP_006466 Q15063 POSTN_HUMAN Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA. 803 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CTTTTAATTTCTTCATCTTCA 0.373000 39 37 0 0 0.000509022 0 0 DSCAM 1826 broad.mit.edu 37 21 41710126 41710126 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr21:41710126G>A uc002yyq.1 - 7 2137 c.1685C>T c.(1684-1686)tCa>tTa p.S562L 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. 562 Ig-like C2-type 6. 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) TTGCACATCTGAAAGTTTAAG 0.483000 57 23 0 0 0.000375601 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717691 142717691 + Nonsense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:142717691G>A uc022cfm.1 - 0 1234 c.1234C>T c.(1234-1236)Caa>Taa p.Q412* SLITRK4_uc022cfl.1_Nonsense_Mutation_p.Q412*|SLITRK4_uc004fbx.3_Nonsense_Mutation_p.Q412*|SLITRK4_uc004fby.3_Nonsense_Mutation_p.Q412* NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA. 412 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) ACTGTAATTTGATTGCTGCCT 0.398000 89 40 0 0 0.00195071 0 0 ATP13A4 84239 broad.mit.edu 37 3 193232645 193232645 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:193232645G>A uc003ftd.3 - 1 184 c.76C>T c.(76-78)Cgg>Tgg p.R26W ATP13A4_uc003fte.1_Missense_Mutation_p.R26W|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 26 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.R26W(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCTTGAGTCCGATAGCCAAAT 0.418000 24 18 0 0 0.000958276 0 0 CAMTA1 23261 broad.mit.edu 37 1 7798518 7798518 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:7798518C>T uc001aoi.3 + 15 4365 c.4158C>T c.(4156-4158)tgC>tgT p.C1386C CAMTA1_uc010nzv.1_Silent_p.C473C|CAMTA1_uc001aok.4_Silent_p.C429C|CAMTA1_uc001aoj.3_Silent_p.C342C NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 1386 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.C1386C(4) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ATGAAGAATGCGGCCAGCCCA 0.522000 T WWTR1 epitheliod hemangioendothelioma 9 14 0 0 0.000219431 0 0 SETX 23064 broad.mit.edu 37 9 135202598 135202598 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:135202598C>T uc004cbk.3 - 9 4570 c.4387G>A c.(4387-4389)Gac>Aac p.D1463N SETX_uc004cbj.3_Missense_Mutation_p.D1082N|SETX_uc010mzt.3_Missense_Mutation_p.D1082N NM_015046 NP_055861 Q7Z333 SETX_HUMAN Homo sapiens senataxin (SETX), mRNA. 1463 RNA processing|cell death|double-strand break repair cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CCCAGAGGGTCTTCTGAAGTG 0.458000 70 32 0 0 0.00058488 0 0 C14orf79 122616 broad.mit.edu 37 14 105459348 105459348 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:105459348C>T uc001ypy.1 + 3 916 c.763C>T c.(763-765)Ctc>Ttc p.L255F C14orf79_uc010tym.1_Non-coding_Transcript|C14orf79_uc001ypz.1_Non-coding_Transcript NM_174891 NP_777551 Q96F83 CN079_HUMAN Homo sapiens chromosome 14 open reading frame 79 (C14orf79), mRNA. 255 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) TGAAGGACTCCTCACTGTCAG 0.567000 81 36 0 0 0.00128727 0 0 LOC100132352 100132352 broad.mit.edu 37 9 68728848 68728848 + RNA SNP A C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:68728848A>C uc022bhu.1 + 2 c.633A>C LOC100132352_uc010mnp.2_Non-coding_Transcript Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA. aagaagaaaaagagcaaagat 0.279000 41 5 0 0 0.000602214 0 0 TNFRSF8 943 broad.mit.edu 37 1 12198305 12198305 + Missense_Mutation SNP C T T rs141539189 byFrequency TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:12198305C>T uc001atq.3 + 13 1577 c.1355C>T c.(1354-1356)tCg>tTg p.S452L TNFRSF8_uc010obc.2_Missense_Mutation_p.S340L|TNFRSF8_uc001atr.3_5'UTR|TNFRSF8_uc001ats.3_Intron NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 452 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AGTGGTGCGTCGGTGACAGAA 0.627000 10 16 0 0 0.000566183 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64556459 64556459 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:64556459C>T uc003jtp.3 - 13 2612 c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.E221K NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 600 TSP type-1 1. 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) CGTTTCCTTTCCCCAAGGCAA 0.333000 23 13 0 0 0.000219431 0 0 RBP3 5949 broad.mit.edu 37 10 48383871 48383871 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:48383871C>T uc001jez.3 - 2 3475 c.3361G>A c.(3361-3363)Gaa>Aaa p.E1121K NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 1121 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GTCCAGAGTTCACTGACAGAG 0.522000 42 19 0 0 0.000375601 0 0 OR2T2 401992 broad.mit.edu 37 1 248616301 248616301 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:248616301C>T uc001iek.1 + 0 203 c.203C>T c.(202-204)tCc>tTc p.S68F NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S68F(2)|p.L67L(1) 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) AGCCAGCTCTCCATCATGGAT 0.512000 90 43 0 0 0.000781405 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420920 55420920 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:55420920G>A uc001sgp.4 + 1 1075 c.697G>A c.(697-699)Gga>Aga p.G233R NEUROD4_uc021qyr.1_Missense_Mutation_p.G233R NM_021191 NP_067014 Q9HD90 NDF4_HUMAN Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA. 233 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 CAAGAGTTTGGGAGAATCGTC 0.517000 21 19 0 0 0.00121646 0 0 PAN2 9924 broad.mit.edu 37 12 56711414 56711414 + Missense_Mutation SNP G T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:56711414G>T uc001skx.3 - 25 3965 c.3588C>A c.(3586-3588)ttC>ttA p.F1196L CNPY2_uc001sku.2_5'Flank|CNPY2_uc001skv.3_5'Flank|PAN2_uc001skw.3_Missense_Mutation_p.F344L|PAN2_uc001sky.3_Missense_Mutation_p.F1192L|PAN2_uc001skz.3_Missense_Mutation_p.F1195L NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA. 1196 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GCACTGAGGAGAAGACAGCTG 0.478000 49 19 1.56452e-12 1.32504e-11 0.000958276 1 0 ZNF556 80032 broad.mit.edu 37 19 2877665 2877665 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:2877665G>A uc002lwp.1 + 3 796 c.709G>A c.(709-711)Ggg>Agg p.G237R ZNF556_uc002lwq.3_Missense_Mutation_p.G236R NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) TGGGCAGTGTGGGAAAGGCTT 0.522000 22 8 0 0 0.000442599 0 0 UGT1A1 54658 broad.mit.edu 37 2 234676527 234676527 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:234676527G>A uc002vuw.3 + 2 1032 c.1032G>A c.(1030-1032)tcG>tcA p.S344S UGT1A1_uc010zmv.1_Silent_p.S340S|UGT1A1_uc002vup.3_Silent_p.S340S|UGT1A1_uc002vuq.3_Silent_p.S340S|UGT1A1_uc002vur.3_Silent_p.S340S|UGT1A1_uc010zmw.1_Silent_p.S340S|UGT1A1_uc002vus.3_Silent_p.S340S|UGT1A1_uc010zmx.1_Silent_p.S340S|UGT1A1_uc002vut.3_Silent_p.S340S|UGT1A1_uc002vuu.3_Silent_p.S75S|UGT1A1_uc010zmy.1_Silent_p.S342S|UGT1A1_uc002vuv.4_Silent_p.S342S|UGT1A1_uc010zmz.1_Silent_p.S344S|UGT1A1_uc010zna.1_Silent_p.S344S|UGT1A1_uc002vux.3_Silent_p.S344S|UGT1A1_uc010znb.1_Silent_p.S344S|UGT1A1_uc002vuy.3_Silent_p.S344S|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc010znc.1_Silent_p.S343S|UGT1A1_uc002vvb.3_Silent_p.S343S NM_019078 NP_061951 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA. 343 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CCCGACCATCGAATCTTGCGA 0.443000 58 38 0 0 0.000781405 0 0 MGAM 8972 broad.mit.edu 37 7 141752605 141752605 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:141752605C>T uc003vwy.3 + 25 3034 c.2980C>T c.(2980-2982)Cct>Tct p.P994S NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 994 P-type 2. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTCTGGAGTCCCTTTTTGCTA 0.418000 122 38 0 0 0.000680045 0 0 DEPTOR 64798 broad.mit.edu 37 8 121013833 121013833 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:121013833G>A uc003yow.4 + 4 861 c.674G>A c.(673-675)cGa>cAa p.R225Q DEPTOR_uc011lid.2_Missense_Mutation_p.R124Q NM_022783 NP_073620 Q8TB45 DPTOR_HUMAN Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA. 225 Poly-Arg. intracellular signal transduction|negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 CGGCGGAGGCGAAGACTGATG 0.493000 30 30 0 0 0.00058488 0 0 SPRED3 399473 broad.mit.edu 37 19 38881013 38881013 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:38881013G>A uc002oim.3 + 0 75 c.71G>A c.(70-72)gGg>gAg p.G24E GGN_uc002oij.1_5'Flank|GGN_uc002oik.1_5'Flank|GGN_uc010efy.1_5'Flank|SPRED3_uc002oil.1_Missense_Mutation_p.G24E NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA. 24 WH1. multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTGGGGGGCGGGGGCCTCAGC 0.726000 13 5 0 0 0.00116845 0 0 TRPM4 54795 broad.mit.edu 37 19 49693571 49693571 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:49693571C>T uc002pmw.3 + 14 2234 c.2126C>T c.(2125-2127)aCc>aTc p.T709I TRPM4_uc010emu.3_Missense_Mutation_p.T709I|TRPM4_uc010yak.2_Missense_Mutation_p.T173I|TRPM4_uc002pmx.3_Missense_Mutation_p.T535I|TRPM4_uc010emv.3_Missense_Mutation_p.T594I|TRPM4_uc010yal.2_Missense_Mutation_p.T355I|TRPM4_uc002pmy.3_Missense_Mutation_p.T51I NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 709 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CGCCTCATCACCTTCAGGTCA 0.607000 38 22 0 0 0.00127121 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419471 105419471 + Missense_Mutation SNP G T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:105419471G>T uc010axc.1 - 6 2437 c.2317C>A c.(2317-2319)Ctc>Atc p.L773I AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L673I NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 773 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGCCCTTGAGGTCCACTTTG 0.632000 97 6 1.12685e-05 9.43815e-05 0.000274275 1 0 SPAG6 9576 broad.mit.edu 37 10 22678203 22678203 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:22678203C>T uc001iri.3 + 6 1134 c.967C>T c.(967-969)Cat>Tat p.H323Y SPAG6_uc010qct.2_Missense_Mutation_p.H298Y|SPAG6_uc009xkh.3_Missense_Mutation_p.H301Y|SPAG6_uc001irj.3_Missense_Mutation_p.H323Y|SPAG6_uc021poe.1_Missense_Mutation_p.H49Y NM_012443 NP_036575 O75602 SPAG6_HUMAN Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA. 323 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 TGTAGCAGCTCATTCTGAGAA 0.463000 23 16 0 0 0.000566183 0 0 LRIT2 340745 broad.mit.edu 37 10 85981769 85981769 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:85981769G>A uc010qmc.2 - 3 1598 c.1590C>T c.(1588-1590)tcC>tcT p.S530S LRIT2_uc001kcy.3_Silent_p.S520S NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA. 520 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GTTCTCTAAAGGAGCCATCCT 0.597000 48 16 0 0 0.000422831 0 0 XAGE3 170626 broad.mit.edu 37 X 52893828 52893828 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:52893828C>T uc004dre.3 - 3 349 c.289G>A c.(289-291)Gaa>Aaa p.E97K XAGE3_uc004drf.3_Missense_Mutation_p.E97K NM_130776 NP_573440 Q8WTP9 GAGD4_HUMAN Homo sapiens X antigen family, member 3 (XAGE3), transcript variant 2, mRNA. 97 kidney(1)|large_intestine(1)|lung(2) 4 TTAAATTGTTCTGATTTTGGC 0.403000 59 31 0 0 0.000491102 0 0 FA2H 79152 broad.mit.edu 37 16 74752945 74752945 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:74752945G>A uc002fde.2 - 4 803 c.727C>T c.(727-729)Ccc>Tcc p.P243S FA2H_uc002fdd.2_5'Flank|FA2H_uc010vmy.2_Non-coding_Transcript NM_024306 NP_077282 Q7L5A8 FA2H_HUMAN Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA. 243 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 CTGTCGCTGGGGGGCTTCATG 0.607000 17 16 0 0 0.000566183 0 0 TTN 7273 broad.mit.edu 37 2 179571203 179571203 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:179571203C>T uc021vsy.1 - 98 25891 c.25666G>A c.(25666-25668)Gat>Aat p.D8556N TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D5217N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9483 Ig-like 68. 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) GCTCTAAGATCGCCTTCAATT 0.413000 15 13 0 0 0.00136819 0 0 XIST 7503 broad.mit.edu 37 X 73063804 73063804 + RNA SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:73063804G>A uc004ebm.1 - 0 c.8785C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. GCCTTGGAGGGAAACAGTATA 0.383000 25 12 0 0 0.000978159 0 0 GAS2 2620 broad.mit.edu 37 11 22833419 22833419 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:22833419G>A uc009yie.3 + 7 1105 c.799G>A c.(799-801)Gac>Aac p.D267N GAS2_uc001mqm.3_Missense_Mutation_p.D267N|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.D267N NM_001143830 NP_808221 O43903 GAS2_HUMAN Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA. 267 GAR. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 GTTGAAACACGACCCCTGCCG 0.448000 38 26 0 0 0.000720815 0 0 LILRB4 11006 broad.mit.edu 37 19 55177365 55177365 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:55177365G>A uc002qgp.3 + 6 1219 c.857G>A c.(856-858)gGa>gAa p.G286E LILRB4_uc002qgq.3_Missense_Mutation_p.G286E|LILRB4_uc010ert.3_Missense_Mutation_p.G327E|LILRB4_uc010eru.3_Missense_Mutation_p.G315E NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 286 integral to membrane|plasma membrane antigen binding|receptor activity p.Q285H(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TGGCGTCAGGGAAAACACAGG 0.587000 33 16 0 0 0.000422831 0 0 TLR8 51311 broad.mit.edu 37 X 12939833 12939833 + Missense_Mutation SNP T A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:12939833T>A uc004cvd.3 + 2 2898 c.2728T>A c.(2728-2730)Tct>Act p.S910T TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.S892T NM_138636 NP_619542 Q9NR97 TLR8_HUMAN Homo sapiens toll-like receptor 8 (TLR8), mRNA. 892 TIR. I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CAAAGATGCCTCTGTTACTGA 0.433000 91 45 0 0 0.000781405 0 0 CPB1 1360 broad.mit.edu 37 3 148563299 148563299 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:148563299C>T uc003ewl.3 + 8 890 c.867C>T c.(865-867)ttC>ttT p.F289F NM_001871 NP_001862 P15086 CBPB1_HUMAN Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA. 289 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TGGCTGATTTCATCCGCAACA 0.463000 52 34 0 0 0.00058488 0 0 KAT6B 23522 broad.mit.edu 37 10 76788641 76788641 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:76788641G>A uc001jwn.1 + 17 4552 c.4059G>A c.(4057-4059)gaG>gaA p.E1353E KAT6B_uc001jwo.1_Silent_p.E1061E|KAT6B_uc001jwp.1_Silent_p.E1170E NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA. 1353 Poly-Glu. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CTgaggaagaggaagaggagg 0.453000 7 7 0 0 8.12818e-05 0 0 GABBR1 2550 broad.mit.edu 37 6 29577156 29577156 + Splice_Site SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:29577156C>T uc003nmt.4 - 15 2045 c.1709_splice c.e15-1 p.G570_splice GABBR1_uc003nmp.4_Splice_Site_p.G453_splice|GABBR1_uc003nms.4_Splice_Site_p.G453_splice|GABBR1_uc003nmu.4_Splice_Site_p.G508_splice|GABBR1_uc011dlr.2_Splice_Site_p.G393_splice|GABBR1_uc011dls.1_Intron NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA. 570 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGGGGACCCTCCTGCATGGCA 0.532000 48 10 0 0 0.000978159 0 0 TMEM108 66000 broad.mit.edu 37 3 133099154 133099154 + Missense_Mutation SNP G A A rs140878635 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:133099154G>A uc003epi.3 + 3 869 c.599G>A c.(598-600)cGa>cAa p.R200Q TMEM108_uc003eph.3_Missense_Mutation_p.R200Q|TMEM108_uc003epj.1_Missense_Mutation_p.R200Q|TMEM108_uc003epk.3_Intron NM_001136469 NP_076432 Q6UXF1 TM108_HUMAN Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA. 200 integral to membrane p.R200Q(2) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CAGCGAGGACGAAATCCAAGC 0.592000 19 12 0 0 0.000978159 0 0 CYP7B1 9420 broad.mit.edu 37 8 65509349 65509349 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:65509349C>T uc003xvj.2 - 5 1575 c.1371G>A c.(1369-1371)atG>atA p.M457I NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 457 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GTTTTATTTCCATAAGTGCAA 0.353000 86 19 0 0 0.000958276 0 0 NUP98 4928 broad.mit.edu 37 11 3752738 3752738 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:3752738C>T uc001lyh.3 - 13 2034 c.1613G>A c.(1612-1614)cGc>cAc p.R538H NUP98_uc001lyi.3_Missense_Mutation_p.R538H|NUP98_uc001lyj.2_Missense_Mutation_p.R538H|NUP98_uc001lyk.2_Missense_Mutation_p.R555H NM_016320 NP_057404 P52948 NUP98_HUMAN Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA. 555 DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm protein binding|structural constituent of nuclear pore|transporter activity p.R538H(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AGTGGCAGGGCGGGGTGTCAG 0.458000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 124 34 0 0 0.00148497 0 0 MPDZ 8777 broad.mit.edu 37 9 13186385 13186385 + Splice_Site SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:13186385G>A uc010mia.1 - 17 2422 c.2365_splice c.e17-1 p.L789_splice MPDZ_uc010mhz.3_Splice_Site_p.L789_splice|MPDZ_uc011lmn.2_Splice_Site_p.L789_splice|MPDZ_uc010mhy.3_Splice_Site_p.L789_splice|MPDZ_uc003zlb.4_Splice_Site_p.L789_splice NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 789 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TCTGGTGAAAGCTGCAGGGAA 0.458000 4 5 0 0 0.000602214 0 0 ITGA9 3680 broad.mit.edu 37 3 37565067 37565067 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:37565067C>T uc003chd.3 + 11 1345 c.1292C>T c.(1291-1293)tCg>tTg p.S431L ITGA9_uc003chc.3_Missense_Mutation_p.S431L NM_002207 NP_002198 Q13797 ITA9_HUMAN Homo sapiens integrin, alpha 9 (ITGA9), mRNA. 431 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CAGTCCATATCGGGAGGCATT 0.398000 40 42 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179598197 179598197 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:179598197C>T uc021vsy.1 - 50 12316 c.12091G>A c.(12091-12093)Gga>Aga p.G4031R TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G692R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4958 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) GCGGGATCTCCTGCTGTCACC 0.483000 135 44 0 0 0.000781405 0 0 IQCF1 132141 broad.mit.edu 37 3 51937094 51937094 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:51937094C>T uc003dbv.3 - 1 113 c.15G>A c.(13-15)caG>caA p.Q5Q IQCF1_uc003dbq.4_Non-coding_Transcript NM_152397 NP_689610 Q8N6M8 IQCF1_HUMAN Homo sapiens IQ motif containing F1 (IQCF1), mRNA. 5 p.Q5H(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TCTTTTGGGGCTGCTTCTCCT 0.537000 183 112 0 0 0.000781405 0 0 USP9X 8239 broad.mit.edu 37 X 41057871 41057871 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:41057871G>A uc004dfb.3 + 29 5104 c.4471G>A c.(4471-4473)Gtc>Atc p.V1491I USP9X_uc004dfc.3_Missense_Mutation_p.V1491I NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 1491 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GGCTATTCCGGTCTGTGGTTC 0.373000 52 23 0 0 0.000586117 0 0 MAP3K4 4216 broad.mit.edu 37 6 161528978 161528978 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:161528978G>A uc003qtn.3 + 20 4238 c.4096G>A c.(4096-4098)Ggg>Agg p.G1366R MAP3K4_uc010kkc.1_Missense_Mutation_p.G1362R|MAP3K4_uc003qto.3_Missense_Mutation_p.G1316R|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.G819R|MAP3K4_uc003qtp.3_Missense_Mutation_p.G302R|MAP3K4_uc003qtq.3_Missense_Mutation_p.G55R NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA. 1366 Protein kinase. JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CGTCGACACCGGGGAGCTGAT 0.577000 12 14 0 0 0.000219431 0 0 ZZEF1 23140 broad.mit.edu 37 17 4020305 4020305 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:4020305G>A uc002fxe.3 - 2 719 c.655C>T c.(655-657)Ctg>Ttg p.L219L ZZEF1_uc002fxk.1_Silent_p.L219L NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 219 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GACTCCTTCAGGACGGAAGAC 0.517000 114 48 0 0 0.000781405 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R 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) 43 62 0 0 0.000781405 0 0 MB21D1 115004 broad.mit.edu 37 6 74150069 74150069 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:74150069G>A uc003pgx.1 - 2 1116 c.977C>T c.(976-978)tCa>tTa p.S326L NM_138441 NP_612450 Q8N884 M21D1_HUMAN Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA. 326 central_nervous_system(1)|large_intestine(4)|lung(1) 6 GCTACTTTTTGATTCCAAAGC 0.428000 51 87 0 0 0.000781405 0 0 OR52M1 119772 broad.mit.edu 37 11 4567275 4567275 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:4567275C>T uc010qyf.2 + 0 855 c.855C>T c.(853-855)ctC>ctT p.L285L NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTATCTCCTCATTCCTCCAA 0.458000 25 15 0 0 0.000422831 0 0 RAI1 10743 broad.mit.edu 37 17 17699344 17699344 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:17699344G>A uc002grm.3 + 2 3551 c.3082G>A c.(3082-3084)Gaa>Aaa p.E1028K RAI1_uc002grn.1_Missense_Mutation_p.E1028K NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 1028 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CTTGCTCCCTGAATCCTGCAC 0.682000 0 3 0 0 6.4e-05 0 0 PRRC2B 84726 broad.mit.edu 37 9 134319589 134319589 + Missense_Mutation SNP C G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:134319589C>G uc004can.4 + 4 542 c.487C>G c.(487-489)Cga>Gga p.R163G PRRC2B_uc004cam.1_Missense_Mutation_p.R163G NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 163 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GGGCTCAAGCCGACTGTTATC 0.537000 16 7 0 0 0.000274275 0 0 RICTOR 253260 broad.mit.edu 37 5 38963106 38963106 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:38963106G>A uc003jlo.2 - 16 1460 c.1438C>T c.(1438-1440)Cat>Tat p.H480Y RICTOR_uc003jlp.2_Missense_Mutation_p.H480Y|RICTOR_uc010ivf.2_Missense_Mutation_p.H195Y NM_152756 NP_689969 Q6R327 RICTR_HUMAN Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA. 480 T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade TORC2 complex|cytosol protein binding p.F479F(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TTCATTTCATGGAAGCGTTTT 0.383000 37 22 0 0 0.000295444 0 0 PRAM1 84106 broad.mit.edu 37 19 8563934 8563934 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:8563934G>A uc002mkd.3 - 1 821 c.758C>T c.(757-759)cCc>cTc p.P253L NM_032152 NP_115528 Q96QH2 PRAM_HUMAN Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA. 301 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 CTTCCAGAGGGGAGTCTGAGC 0.627000 25 13 0 0 0.000219431 0 0 EXOSC1 51013 broad.mit.edu 37 10 99196960 99196960 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:99196960G>A uc001kni.3 - 6 495 c.469C>T c.(469-471)Cac>Tac p.H157Y EXOSC1_uc009xvp.1_Non-coding_Transcript NM_016046 NP_057130 Q9Y3B2 EXOS1_HUMAN Homo sapiens exosome component 1 (EXOSC1), mRNA. 157 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus RNA binding|protein binding p.A156A(1) breast(1)|endometrium(1)|lung(5) 7 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) GACTCACTGTGGGCTACCACC 0.488000 62 34 0 0 0.00170553 0 0 TGIF2 60436 broad.mit.edu 37 20 35219438 35219439 + Missense_Mutation DNP CC TT TT TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:35219438_35219439CC>TT uc021wcv.1 + 2 532_533 c.318_319CC>TT c.(316-321)ccccgt>ccTTgt p.R107C TGIF2_uc021wcu.1_Missense_Mutation_p.R107C|TGIF2_uc002xfn.3_Missense_Mutation_p.R107C|TGIF2_uc021wcw.1_Missense_Mutation_p.R107C|TGIF2_uc002xfo.3_Intron NM_001199514 NP_001186443 Q9GZN2 TGIF2_HUMAN Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA. 107 Repressive function. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) TGGCCCTCCCCCGTGGCAGCAG 0.634000 77 32 0 0 6.4e-05 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39911623 39911623 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:39911623C>T uc010xuz.2 + 13 1759 c.1434C>T c.(1432-1434)ggC>ggT p.G478G PLEKHG2_uc010xuy.2_Silent_p.G419G|PLEKHG2_uc002olj.3_Silent_p.G478G|PLEKHG2_uc010xva.2_Intron NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 478 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTCGCCGAGGCCGCAGGCAGT 0.667000 16 10 0 0 0.000442599 0 0 ZNF142 7701 broad.mit.edu 37 2 219508403 219508403 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:219508403G>A uc002vin.3 - 7 3272 c.2836C>T c.(2836-2838)Ccc>Tcc p.P946S ZNF142_uc002vil.3_Missense_Mutation_p.P907S|ZNF142_uc010fvt.3_Missense_Mutation_p.P783S|ZNF142_uc002vim.3_Missense_Mutation_p.P783S NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 946 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) GGCTCCCTGGGAAGCTCCAAA 0.567000 88 30 0 0 0.000814825 0 0 AMOTL2 51421 broad.mit.edu 37 3 134077418 134077418 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:134077418G>A uc003eqf.2 - 8 2536 c.2419C>T c.(2419-2421)Ctg>Ttg p.L807L AMOTL2_uc003eqg.1_Silent_p.L750L|AMOTL2_uc003eqh.1_Silent_p.L747L|AMOTL2_uc003eqe.1_Silent_p.L375L NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN Homo sapiens angiomotin like 2 (AMOTL2), mRNA. 749 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 CTGCACCCCAGAAGGCTGTCA 0.647000 OREG0015814 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 5 0 0 8.12818e-05 0 0 ALG5 29880 broad.mit.edu 37 13 37524141 37524141 + Missense_Mutation SNP A T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:37524141A>T uc001uvy.3 - 9 980 c.913T>A c.(913-915)Ttt>Att p.F305I ALG5_uc010teq.2_Missense_Mutation_p.F275I|ALG5_uc010ter.2_Non-coding_Transcript NM_013338 NP_037470 Q9Y673 ALG5_HUMAN Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA. 305 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) AGTCGTATAAAAAGTAGGTCT 0.353000 76 24 0 0 0.000409698 0 0 RNASEH2A 10535 broad.mit.edu 37 19 12921165 12921165 + Missense_Mutation SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:12921165T>C uc002mvg.1 + 5 644 c.584T>C c.(583-585)tTc>tCc p.F195S NM_006397 NP_006388 O75792 RNH2A_HUMAN Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA. 195 DNA replication|RNA catabolic process nucleus|ribonuclease H2 complex RNA binding|metal ion binding|ribonuclease H activity breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 14 AAATGGCAGTTCGTGGAGAAA 0.552000 44 20 0 0 0.000375601 0 0 SALL1 6299 broad.mit.edu 37 16 51174965 51174965 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:51174965G>A uc021tif.1 - 1 1199 c.877C>T c.(877-879)Cca>Tca p.P293S SALL1_uc021tid.1_Missense_Mutation_p.P293S|SALL1_uc021tie.1_Missense_Mutation_p.P390S|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 390 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGTAGAAGTGGATTAGACGCA 0.522000 60 17 0 0 0.000958276 0 0 PRG4 10216 broad.mit.edu 37 1 186280225 186280225 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:186280225G>A uc001gru.4 + 8 3610 c.3559G>A c.(3559-3561)Gaa>Aaa p.E1187K MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.E1146K|PRG4_uc009wyl.3_Missense_Mutation_p.E1094K|PRG4_uc009wym.3_Missense_Mutation_p.E1053K|PRG4_uc010poo.2_Non-coding_Transcript NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 1187 Hemopexin-like 1. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAGAATTACTGAAGTTTGGGG 0.388000 44 71 0 0 0.000781405 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026654 176026654 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:176026654G>A uc003meo.1 - 1 357 c.182C>T c.(181-183)cCt>cTt p.P61L GPRIN1_uc021yif.1_Missense_Mutation_p.P61L NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA. 61 growth cone|plasma membrane p.P61H(2) NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTTTGGTCAGGGGTGTGCCT 0.672000 42 20 0 0 0.00106085 0 0 HHAT 55733 broad.mit.edu 37 1 210577939 210577939 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:210577939C>T uc010psr.2 + 4 708 c.603C>T c.(601-603)tcC>tcT p.S201S HHAT_uc009xcx.3_Silent_p.S200S|HHAT_uc010psq.2_Intron|HHAT_uc009xcy.3_Silent_p.S135S|HHAT_uc010pss.2_Silent_p.S155S|HHAT_uc010pst.2_Silent_p.S137S|HHAT_uc001hhz.4_Silent_p.S200S|HHAT_uc021pip.1_Silent_p.S200S|HHAT_uc010psu.2_Silent_p.S135S NM_001170587 NP_001164058 Q5VTY9 HHAT_HUMAN Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA. 200 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) CCTCCTACTCCTTTCCCTGGA 0.562000 74 10 0 0 0.000673444 0 0 C10orf71 118461 broad.mit.edu 37 10 50531639 50531640 + Missense_Mutation DNP GG AA AA TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:50531639_50531640GG>AA uc021pqb.1 + 0 1049_1050 c.1049_1050GG>AA c.(1048-1050)ggg>gAA p.G350E C10orf71_uc021pqa.1_Missense_Mutation_p.G349E|C10orf71_uc021pqc.1_Missense_Mutation_p.G350E NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 350 endometrium(1) 1 ATACCCTGGGGGTGCAGGGATC 0.594000 18 4 0 0 6.4e-05 0 0 ASTN1 460 broad.mit.edu 37 1 176863711 176863711 + Missense_Mutation SNP T G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:176863711T>G uc001glc.3 - 16 3139 c.2927A>C c.(2926-2928)aAc>aCc p.N976T ASTN1_uc001glb.1_Missense_Mutation_p.N976T|ASTN1_uc001gld.1_Missense_Mutation_p.N976T NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 984 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 CTGGGTCTGGTTGTTGGTCAC 0.572000 45 6 0 0 8.12818e-05 0 0 LPHN2 23266 broad.mit.edu 37 1 82372860 82372860 + Nonsense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:82372860C>T uc001dit.4 + 3 413 c.232C>T c.(232-234)Cag>Tag p.Q78* LPHN2_uc001dis.3_Nonsense_Mutation_p.Q78*|LPHN2_uc001diu.3_Nonsense_Mutation_p.Q78*|LPHN2_uc001div.3_Nonsense_Mutation_p.Q78*|LPHN2_uc009wcd.3_Nonsense_Mutation_p.Q78* NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 78 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TGACCCATTTCAGATGGAGAA 0.423000 51 6 0 0 0.000442599 0 0 HPGD 3248 broad.mit.edu 37 4 175443155 175443155 + Missense_Mutation SNP A C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:175443155A>C uc003itu.2 - 1 347 c.157T>G c.(157-159)Ttt>Gtt p.F53V HPGD_uc003itv.2_Missense_Mutation_p.F53V|HPGD_uc011ckf.1_5'UTR|HPGD_uc010irq.2_Missense_Mutation_p.F53V|HPGD_uc011ckg.1_Missense_Mutation_p.F53V|HPGD_uc011ckh.1_5'UTR NM_000860 NP_000851 P15428 PGDH_HUMAN Homo sapiens hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD), transcript variant 1, mRNA. 53 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity p.Q52Q(1) kidney(1)|lung(3)|prostate(3) 7 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) TGAGGTTCAAACTGCTCATCC 0.522000 89 24 0 0 0.000878237 0 0 ERC2 26059 broad.mit.edu 37 3 56330067 56330067 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:56330067C>T uc021wzo.1 - 1 1194 c.1054G>A c.(1054-1056)Gaa>Aaa p.E352K ERC2_uc003dhr.1_Missense_Mutation_p.E352K NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 352 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TGTATGTTTTCCTTCTCTTTC 0.413000 47 28 0 0 0.000720815 0 0 FRMPD2 143162 broad.mit.edu 37 10 49457098 49457098 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:49457098C>T uc001jgi.3 - 2 606 c.275G>A c.(274-276)gGa>gAa p.G92E FRMPD2_uc001jgh.3_Missense_Mutation_p.G83E|FRMPD2_uc001jgj.3_Missense_Mutation_p.G83E NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 92 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CTCACTCTGTCCCTGTAGCAG 0.562000 19 15 0 0 0.000566183 0 0 ITGAX 3687 broad.mit.edu 37 16 31382970 31382970 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:31382970G>A uc002ebt.3 + 16 2092 c.2025G>A c.(2023-2025)gtG>gtA p.V675V ITGAX_uc002ebu.1_Silent_p.V675V NM_000887 NP_000878 P20702 ITAX_HUMAN Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA. 675 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AAAGCTCTGTGACCTTGGACC 0.637000 34 26 0 0 0.001512 0 0 HAP1 9001 broad.mit.edu 37 17 39881157 39881157 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:39881157C>T uc002hxm.1 - 11 1824 c.1812G>A c.(1810-1812)cgG>cgA p.R604R JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.R552R|HAP1_uc002hxo.1_Silent_p.R535R|HAP1_uc002hxp.1_Silent_p.R527R NM_177977 NP_817084 P54257 HAP1_HUMAN Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA. 604 brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CCACGTTCATCCGCGTTGCCT 0.617000 86 65 0 0 0.000781405 0 0 TEX26 122046 broad.mit.edu 37 13 31531145 31531145 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:31531145G>A uc001uti.3 + 3 467 c.448G>A c.(448-450)Gac>Aac p.D150N NM_152325 NP_689538 Q8N6G2 CM026_HUMAN Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA. 150 p.D150N(1) TACTAAGAGAGACTTTGTGGA 0.438000 47 40 0 0 0.000680045 0 0 ERN1 2081 broad.mit.edu 37 17 62121413 62121413 + Missense_Mutation SNP A T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:62121413A>T uc002jdz.2 - 21 2982 c.2869T>A c.(2869-2871)Ttc>Atc p.F957I DQ572107_uc002jdy.1_5'Flank NM_001433 NP_001424 O75460 ERN1_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA. 957 KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 TAGGGCTGGAAGAGTCTCTCG 0.657000 71 24 0 0 0.000586117 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178555107 178555107 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:178555107C>T uc003mjw.3 - 16 2572 c.2470G>A c.(2470-2472)Gga>Aga p.G824R NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 824 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G824V(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CGGGTGTCTCCCACCGGGATG 0.577000 16 9 0 0 0.000442599 0 0 CD2AP 23607 broad.mit.edu 37 6 47501378 47501378 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:47501378C>T uc003oyw.3 + 2 662 c.206C>T c.(205-207)cCc>cTc p.P69L NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN Homo sapiens CD2-associated protein (CD2AP), mRNA. 69 Interaction with ANLN and localization to the midbody. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) GACAGTTTGCCCATCAAACGG 0.378000 25 33 0 0 0.000814825 0 0 ITGA2 3673 broad.mit.edu 37 5 52369055 52369055 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:52369055C>T uc003joy.3 + 19 2680 c.2537C>T c.(2536-2538)tCa>tTa p.S846L ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.S770L|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Intron NM_002203 NP_002194 P17301 ITA2_HUMAN Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA. 846 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GTTGATTTTTCAGAAAACTTG 0.373000 115 51 0 0 0.000781405 0 0 SCIN 85477 broad.mit.edu 37 7 12683911 12683911 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:12683911C>T uc003ssn.4 + 11 1940 c.1730C>T c.(1729-1731)aCc>aTc p.T577I SCIN_uc010ktt.3_Intron|SCIN_uc003sso.4_Missense_Mutation_p.T330I NM_001112706 NP_149119 Q9Y6U3 ADSV_HUMAN Homo sapiens scinderin (SCIN), transcript variant 1, mRNA. 577 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) AAGTGCAAAACCTTAAGGATC 0.458000 10 5 0 0 0.000602214 0 0 SPTBN5 51332 broad.mit.edu 37 15 42164597 42164597 + Missense_Mutation SNP G C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:42164597G>C uc001zos.3 - 26 5296 c.4963C>G c.(4963-4965)Caa>Gaa p.Q1655E NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 1690 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GTGAGGGTTTGGGCCGTCTGG 0.632000 4 5 0 0 0.00116845 0 0 DOCK1 1793 broad.mit.edu 37 10 129141980 129141980 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:129141980C>T uc010qun.2 + 30 3258 c.3194C>T c.(3193-3195)tCa>tTa p.S1065L DOCK1_uc001ljt.3_Missense_Mutation_p.S1044L|DOCK1_uc009yaq.3_Missense_Mutation_p.S39L NM_001380 NP_001371 Q14185 DOCK1_HUMAN Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA. 1044 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GAGAATTTTTCAAGTGCCAAG 0.428000 8 7 0 0 0.000274275 0 0 CFHR5 81494 broad.mit.edu 37 1 196971796 196971796 + Splice_Site SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:196971796T>C uc001gts.4 + 8 1458 c.1330_splice c.e8+2 p.E444_splice NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 444 Sushi 7. 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 GCTGTGTTGGTTAGTAGTTTA 0.323000 45 6 0 0 0.000157383 0 0 FAM58BP 339521 broad.mit.edu 37 1 200183336 200183336 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:200183336C>T uc009wzi.1 + 0 681 c.645C>T c.(643-645)gtC>gtT p.V215V NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA. 215 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding lung(1) 1 CCGCCGAGGTCGAGGCTGAGA 0.557000 16 23 0 0 0.000586117 0 0 DNAH9 1770 broad.mit.edu 37 17 11738075 11738075 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:11738075G>A uc002gne.3 + 48 9435 c.9367G>A c.(9367-9369)Gcc>Acc p.A3123T DNAH9_uc010coo.3_Missense_Mutation_p.A2417T NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 3123 Stalk (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) CAGAGAGAAAGCCATGGCAGA 0.527000 16 7 0 0 8.12818e-05 0 0 CCT5 22948 broad.mit.edu 37 5 10254948 10254948 + Missense_Mutation SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:10254948T>C uc003jeq.3 + 2 500 c.329T>C c.(328-330)gTt>gCt p.V110A CCT5_uc011cmq.2_Intron|CCT5_uc011cmr.2_Intron|CCT5_uc011cms.2_Missense_Mutation_p.V72A|CCT5_uc011cmt.2_Intron NM_012073 NP_036205 P48643 TCPE_HUMAN Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA. 110 '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 ACAGGAGTGGTTGGTAAGAAA 0.423000 34 21 0 0 0.000295444 0 0 DOCK2 1794 broad.mit.edu 37 5 169097555 169097555 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:169097555C>T uc003maf.3 + 3 258 c.178C>T c.(178-180)Cct>Tct p.P60S DOCK2_uc011der.2_Non-coding_Transcript NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 60 SH3. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGCATTTTTCCTAAGTCATT 0.358000 62 30 0 0 0.000339439 0 0 OR10X1 128367 broad.mit.edu 37 1 158549393 158549393 + Missense_Mutation SNP T A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:158549393T>A uc010pin.2 - 0 297 c.297A>T c.(295-297)gaA>gaT p.E99D NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA. 99 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) CCAGTAGATCTTCCAGCATCT 0.498000 20 52 0 0 0.000781405 0 0 RARRES3 5920 broad.mit.edu 37 11 63312103 63312103 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:63312103C>T uc001nxf.4 + 2 197 c.129C>T c.(127-129)ccC>ccT p.P43P NM_004585 NP_004576 Q9UL19 TIG3_HUMAN Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA. 43 lipid catabolic process|negative regulation of cell proliferation hydrolase activity p.P43P(4) kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 GTGAGTACCCCGGGGCTGGCT 0.557000 142 8 0 0 0.000274275 0 0 WNK3 65267 broad.mit.edu 37 X 54263451 54263451 + Silent SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:54263451T>C uc004dtc.2 - 19 4987 c.4548A>G c.(4546-4548)ccA>ccG p.P1516P WNK3_uc004dtd.2_Silent_p.P1469P NM_020922 NP_065973 Q9BYP7 WNK3_HUMAN Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA. 1469 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 TTGGGGAAGATGGCGAATAGA 0.428000 139 68 0 0 0.000781405 0 0 SCN2A 6326 broad.mit.edu 37 2 166188001 166188001 + Silent SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:166188001T>C uc002udc.3 + 13 2601 c.2311T>C c.(2311-2313)Tta>Cta p.L771L SCN2A_uc002udd.3_Silent_p.L771L|SCN2A_uc002ude.3_Silent_p.L771L NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 771 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CTGCATTGTCTTAAATACACT 0.458000 41 26 0 0 0.00106085 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481796 140481796 + Nonsense_Mutation SNP C G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:140481796C>G uc003lio.3 + 0 1563 c.1563C>G c.(1561-1563)taC>taG p.Y521* BC016751_uc003lin.3_Splice_Site NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 521 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTGGACTACGAGGCCCTGC 0.692000 28 17 0 0 0.000958276 0 0 OR5D16 390144 broad.mit.edu 37 11 55606288 55606288 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:55606288G>A uc010rio.2 + 0 61 c.61G>A c.(61-63)Gat>Aat p.D21N NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA. 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GGGCTTCTCAGATTACCTGGA 0.413000 45 33 0 0 0.00058488 0 0 DEFB129 140881 broad.mit.edu 37 20 207945 207945 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:207945C>T uc002wda.3 + 0 47 c.16C>T c.(16-18)Cct>Tct p.P6S NM_080831 NP_543021 Q9H1M3 DB129_HUMAN Homo sapiens defensin, beta 129 (DEFB129), mRNA. 6 defense response to bacterium extracellular region endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) GCTCCTTTTTCCTATCTTTGC 0.498000 72 46 0 0 0.000781405 0 0 ODZ1 10178 broad.mit.edu 37 X 123518112 123518112 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:123518112G>A uc010nqy.3 - 29 6733 c.6669C>T c.(6667-6669)ggC>ggT p.G2223G ODZ1_uc011muj.2_Silent_p.G2222G|ODZ1_uc004euj.3_Silent_p.G2216G NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 2216 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 GCCTCAGAAAGCCATCTTCAT 0.438000 53 42 0 0 0.00195071 0 0 OTOGL 283310 broad.mit.edu 37 12 80735762 80735762 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:80735762G>A uc001szd.3 + 42 5064 c.5058G>A c.(5056-5058)agG>agA p.R1686R NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATGATCTAAGGATGCAAAATG 0.318000 7 4 0 0 0.00024832 0 0 EPHX2 2053 broad.mit.edu 37 8 27364508 27364508 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:27364508C>T uc003xfu.3 + 4 738 c.657C>T c.(655-657)atC>atT p.I219I EPHX2_uc010lut.1_Silent_p.I219I|EPHX2_uc010luv.3_Silent_p.I153I|EPHX2_uc003xfv.3_Silent_p.I166I|EPHX2_uc010luw.3_Silent_p.I153I|EPHX2_uc011lam.1_Silent_p.I75I NM_001979 NP_001970 P34913 HYES_HUMAN Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA. 219 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) TGACCGGAATCCAGGTAACTT 0.547000 10 9 0 0 0.000274275 0 0 EPHB2 2048 broad.mit.edu 37 1 23232557 23232557 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:23232557G>A uc009vqj.1 + 9 1988 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K EPHB2_uc001bge.3_Missense_Mutation_p.E616K|EPHB2_uc001bgf.3_Missense_Mutation_p.E615K|EPHB2_uc010odu.2_Missense_Mutation_p.E557K NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 615 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity p.E615K(4) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GTTTGCCAAGGAAATTGACAT 0.537000 15 20 0 0 0.000295444 0 0 GPR115 221393 broad.mit.edu 37 6 47675989 47675989 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:47675989G>A uc003oyz.1 + 3 294 c.294G>A c.(292-294)ggG>ggA p.G98G GPR115_uc003oza.1_Silent_p.G41G|GPR115_uc003ozb.1_Silent_p.G41G NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 41 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GCCCTGAAGGGAAACCCAAGA 0.453000 36 5 0 0 8.12818e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9086595 9086595 + Silent SNP A G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:9086595A>G uc002mkp.3 - 0 5424 c.5220T>C c.(5218-5220)gcT>gcC p.A1740A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1740 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 GGCTTCCTTCAGCATAGCTGG 0.498000 45 26 0 0 0.000720815 0 0 CIC 23152 broad.mit.edu 37 19 42795145 42795145 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:42795145C>T uc002otf.1 + 9 2265 c.2225C>T c.(2224-2226)cCa>cTa p.P742L NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 742 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TCACCAGCCCCACACTTGGTG 0.662000 """Mis, F, S""" oligodendroglioma 16 6 0 0 8.12818e-05 0 0 PDHA1 5160 broad.mit.edu 37 X 19373555 19373555 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:19373555C>T uc004czg.4 + 6 837 c.692C>T c.(691-693)aCg>aTg p.T231M PDHA1_uc004czh.4_Missense_Mutation_p.T269M|PDHA1_uc011mjc.2_Missense_Mutation_p.T238M|PDHA1_uc011mjd.2_Missense_Mutation_p.T200M|PDHA1_uc010nfl.3_Missense_Mutation_p.T22M NM_000284 NP_000275 P08559 ODPA_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 231 T -> A (in PDHE1 deficiency). glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) GGAATGGGAACGTCTGTTGAG 0.493000 108 46 0 0 0.000509022 0 0 MYH8 4626 broad.mit.edu 37 17 10297626 10297626 + Silent SNP C T T rs140525529 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:10297626C>T uc002gmm.2 - 34 5201 c.5106G>A c.(5104-5106)agG>agA p.R1702R AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1702 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle p.R1702R(2) 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 CGGCGATTTTCCTGCTTCTCT 0.567000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 43 18 0 0 0.000375601 0 0 LRBA 987 broad.mit.edu 37 4 151749573 151749573 + Missense_Mutation SNP G A A rs149324157 byFrequency TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:151749573G>A uc010ipj.3 - 29 5174 c.4930C>T c.(4930-4932)Ctt>Ttt p.L1644F LRBA_uc003ilt.4_Missense_Mutation_p.L303F|LRBA_uc003ilu.4_Missense_Mutation_p.L1644F NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 1644 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TCTAAAGAAAGAGTAGATAGC 0.453000 62 13 0 0 0.00136819 0 0 FCN1 2219 broad.mit.edu 37 9 137801707 137801707 + Missense_Mutation SNP C G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:137801707C>G uc004cfi.3 - 8 1007 c.918G>C c.(916-918)tgG>tgC p.W306C NM_002003 NP_001994 O00602 FCN1_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA. 306 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) TCGCCGCACTCCAGTTGATAC 0.562000 47 29 0 0 0.000878237 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554261 140554261 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:140554261C>T uc003lit.3 + 0 2019 c.1845C>T c.(1843-1845)ttC>ttT p.F615F NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 615 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGGGCTATTCGGCGTGTGGG 0.682000 38 27 0 0 0.00178596 0 0 LAMA1 284217 broad.mit.edu 37 18 6978196 6978196 + Splice_Site SNP G A A rs144466305 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:6978196G>A uc002knm.3 - 43 6284 c.6190_splice c.e43+1 p.T2064_splice LAMA1_uc010wzj.2_Splice_Site_p.T1540_splice NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2064 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGACATACTGGCCATGGTGG 0.552000 60 34 0 0 0.000692331 0 0 VPS13D 55187 broad.mit.edu 37 1 12364652 12364652 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:12364652C>T uc001atv.3 + 25 6447 c.6306C>T c.(6304-6306)tcC>tcT p.S2102S VPS13D_uc001atw.3_Silent_p.S2102S|VPS13D_uc001atx.3_Silent_p.S1290S NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2102 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAACCCATTCCCAGGGGCAGT 0.567000 11 15 0 0 0.000219431 0 0 ZNF283 284349 broad.mit.edu 37 19 44339683 44339683 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:44339683C>T uc002oxr.4 + 4 417 c.149C>T c.(148-150)tCa>tTa p.S50L ZNF283_uc002oxp.4_5'UTR NM_181845 NP_862828 Q8N7M2 ZN283_HUMAN Homo sapiens zinc finger protein 283 (ZNF283), mRNA. 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TTCTGTGCTTCACCAATAGAG 0.418000 13 8 0 0 0.000157383 0 0 SHD 56961 broad.mit.edu 37 19 4280318 4280318 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:4280318G>A uc002lzw.2 + 0 1721 c.258G>A c.(256-258)atG>atA p.M86I NM_020209 NP_064594 Q96IW2 SHD_HUMAN Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA. 86 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCGGATATGGCCAGAGCCA 0.687000 2 3 0 0 6.4e-05 0 0 SLC6A14 11254 broad.mit.edu 37 X 115568959 115568959 + Splice_Site SNP A G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:115568959A>G uc004eqi.3 + 2 180 c.49_splice c.e2-1 p.K17_splice SLC6A14_uc011mtm.2_Splice_Site NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 17 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CTTCCCCAGAAAGTGTCGGCT 0.383000 215 97 0 0 0.000781405 0 0 KIAA0090 23065 broad.mit.edu 37 1 19546091 19546091 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:19546091G>A uc001bbo.3 - 21 2817 c.2774C>T c.(2773-2775)gCt>gTt p.A925V KIAA0090_uc001bbn.3_Non-coding_Transcript|KIAA0090_uc001bbp.3_Missense_Mutation_p.A924V|KIAA0090_uc001bbq.3_Missense_Mutation_p.A924V|KIAA0090_uc001bbr.3_Missense_Mutation_p.A903V NM_015047 NP_055862 Q8N766 K0090_HUMAN Homo sapiens KIAA0090 (KIAA0090), mRNA. 925 DUF1620. integral to membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 25 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) ACCCGAGGGAGCTGTGTAGAT 0.463000 19 23 0 0 0.000375601 0 0 PIGH 5283 broad.mit.edu 37 14 68059435 68059435 + Splice_Site SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:68059435G>A uc001xjr.1 - 3 488 c.391_splice c.e3-1 p.Q131_splice NM_004569 NP_004560 Q14442 PIGH_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class H (PIGH), mRNA. 131 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus phosphatidylinositol N-acetylglucosaminyltransferase activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933) ATCACCTTCTGCTGTAAGAAA 0.348000 27 19 0 0 0.00074312 0 0 SLC25A27 9481 broad.mit.edu 37 6 46623672 46623672 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:46623672C>T uc003oyh.3 + 1 477 c.199C>T c.(199-201)Ccc>Tcc p.P67S SLC25A27_uc011dwb.2_Missense_Mutation_p.P67S|SLC25A27_uc003oyg.3_Missense_Mutation_p.P67S|SLC25A27_uc011dwc.2_5'UTR|SLC25A27_uc003oyi.3_5'Flank NM_004277 NP_004268 O95847 UCP4_HUMAN Homo sapiens solute carrier family 25, member 27 (SLC25A27), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 67 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane p.A66A(1) central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) AGAATCTGCCCCCTATAGGGG 0.507000 71 112 0 0 0.000781405 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435464 7435464 + Silent SNP G A A rs139203507 by1000genomes TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:7435464G>A uc011bwj.2 - 0 1237 c.1143C>T c.(1141-1143)atC>atT p.I381I SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA. 381 sphingolipid metabolic process extracellular region|lysosome lung(4) 4 GGGACGGCACGATGGCATAGG 0.607000 31 7 0 0 8.12818e-05 0 0 RB1 5925 broad.mit.edu 37 13 48953779 48953779 + Missense_Mutation SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:48953779T>C uc001vcb.3 + 13 1548 c.1382T>C c.(1381-1383)cTt>cCt p.L461P NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 461 Domain A.|Pocket; binds T and E1A. G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation PML body|Rb-E2F complex|SWI/SNF complex|chromatin DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAATCCATGCTTAAATCAGTA 0.418000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 19 22 0 0 0.000720815 0 0 RASGRP3 25780 broad.mit.edu 37 2 33749069 33749069 + Missense_Mutation SNP A G G rs35406835 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:33749069A>G uc002rox.3 + 8 1267 c.640A>G c.(640-642)Acc>Gcc p.T214A RASGRP3_uc010ync.2_Missense_Mutation_p.T214A|RASGRP3_uc002roy.3_Missense_Mutation_p.T214A NM_170672 NP_733772 Q8IV61 GRP3_HUMAN Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA. 214 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TAGCAAACCAACCCCCCAGCA 0.428000 89 69 0 0 0.000781405 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73076882 73076882 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:73076882C>T uc001otu.3 + 19 5906 c.5885C>T c.(5884-5886)cCc>cTc p.P1962L NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA. 1962 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CCACTCAGTCCCACAGGCCTC 0.662000 20 6 0 0 0.00116845 0 0 SLC24A3 57419 broad.mit.edu 37 20 19565664 19565664 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:19565664G>A uc002wrl.3 + 4 670 c.473G>A c.(472-474)gGa>gAa p.G158E NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 158 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ATGGCAGCGGGAAGTTCGGCC 0.547000 30 16 0 0 0.000566183 0 0 RIMS1 22999 broad.mit.edu 37 6 73108683 73108683 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:73108683G>A uc003pga.3 + 32 4824 c.4747G>A c.(4747-4749)Gaa>Aaa p.E1583K RIMS1_uc011dyb.2_Missense_Mutation_p.E980K|RIMS1_uc003pgc.3_Missense_Mutation_p.E998K|RIMS1_uc010kaq.3_Missense_Mutation_p.E903K|RIMS1_uc011dyc.2_Missense_Mutation_p.E708K|RIMS1_uc010kar.3_Missense_Mutation_p.E651K|RIMS1_uc011dyd.2_Missense_Mutation_p.E717K|RIMS1_uc003pge.3_Missense_Mutation_p.E623K|RIMS1_uc003pgf.3_Missense_Mutation_p.E583K|RIMS1_uc003pgi.3_Missense_Mutation_p.E399K|RIMS1_uc003pgg.3_Missense_Mutation_p.E479K|RIMS1_uc003pgh.3_Missense_Mutation_p.E450K|RIMS1_uc003pgd.3_Missense_Mutation_p.E649K|RIMS1_uc011dye.2_Missense_Mutation_p.E389K|RIMS1_uc011dyf.2_Missense_Mutation_p.E207K|RIMS1_uc011dyg.2_Missense_Mutation_p.E110K NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 1583 C2 2. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding p.E1583G(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) ATATCTTTTGGAAAATGGGGC 0.333000 51 9 0 0 0.000442599 0 0 PNMA3 29944 broad.mit.edu 37 X 152226735 152226735 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:152226735G>A uc022cho.1 + 0 1323 c.1323G>A c.(1321-1323)caG>caA p.Q441Q PNMA3_uc004fhc.2_Silent_p.Q441Q|PNMA3_uc004fhd.3_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA. 441 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) AGAAGAAACAGGCTGCAGTTG 0.547000 51 32 0 0 0.000692331 0 0 TG 7038 broad.mit.edu 37 8 133909963 133909963 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:133909963C>T uc003ytw.3 + 11 3112 c.3071C>T c.(3070-3072)tCg>tTg p.S1024L TG_uc010mdw.3_5'UTR NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1024 Thyroglobulin type-1 8. 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) CTTCTGCGGTCGGGCCCCTAC 0.582000 60 17 0 0 0.00074312 0 0 PRDX6 9588 broad.mit.edu 37 1 173446598 173446598 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:173446598G>A uc001giy.1 + 0 113 c.62G>A c.(61-63)gGc>gAc p.G21D LOC100506023_uc001gix.1_5'Flank NM_004905 NP_004896 P30041 PRDX6_HUMAN Homo sapiens peroxiredoxin 6 (PRDX6), mRNA. 21 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 ACCACCGTCGGCCGCATCCGT 0.652000 29 4 0 0 0.000602214 0 0 DARS2 55157 broad.mit.edu 37 1 173799875 173799876 + Missense_Mutation DNP CC TT TT TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:173799875_173799876CC>TT uc001gjh.2 + 3 943_944 c.372_373CC>TT c.(370-375)tcccgt>tcTTgt p.R125C NM_018122 NP_060592 Q6PI48 SYDM_HUMAN Homo sapiens aspartyl-tRNA synthetase 2, mitochondrial (DARS2), nuclear gene encoding mitochondrial protein, mRNA. 125 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus ATP binding|aspartate-tRNA ligase activity|nucleic acid binding breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) CAGTCATTTCCCGTCCTGCAGG 0.455000 112 10 0 0 6.4e-05 0 0 DENND3 22898 broad.mit.edu 37 8 142199114 142199114 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:142199114G>A uc003yvy.3 + 18 3152 c.2874G>A c.(2872-2874)caG>caA p.Q958Q DENND3_uc010mep.3_Silent_p.Q919Q|DENND3_uc003ywa.1_Silent_p.Q8Q|DENND3_uc003ywb.3_Silent_p.Q8Q NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 958 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) ACCAGAACCAGGTGTGGGTTG 0.512000 26 8 0 0 0.000978159 0 0 CFB 629 broad.mit.edu 37 6 31903828 31903828 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:31903828C>T uc003nyf.3 + 6 1242 c.978C>T c.(976-978)gcC>gcT p.A326A CFB_uc003nyc.2_Silent_p.A113A|CFB_uc011doo.2_Silent_p.A80A|CFB_uc011dop.2_Intron|CFB_uc010jtk.3_Silent_p.A194A|CFB_uc011doq.2_Silent_p.A297A|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank NM_000063 NP_000054 P00751 CFAB_HUMAN Homo sapiens complement component 2 (C2), transcript variant 1, mRNA. 342 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TGGAAAATGCCAACTATAAAG 0.483000 248 62 0 0 0.000781405 0 0 FUT9 10690 broad.mit.edu 37 6 96651110 96651110 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:96651110C>T uc003pop.4 + 2 420 c.79C>T c.(79-81)Ctc>Ttc p.L27F FUT9_uc021zcw.1_Missense_Mutation_p.L27F NM_006581 NP_006572 Q9Y231 FUT9_HUMAN Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA. 27 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GGCATGTCTTCTCATTTACAT 0.383000 27 34 0 0 0.000491102 0 0 HKR1 284459 broad.mit.edu 37 19 37854094 37854094 + Missense_Mutation SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:37854094T>C uc002ogb.3 + 5 1666 c.1397T>C c.(1396-1398)gTt>gCt p.V466A HKR1_uc002ofx.3_Missense_Mutation_p.V182A|HKR1_uc002ofy.3_Missense_Mutation_p.V182A|HKR1_uc002oga.3_Missense_Mutation_p.V448A|HKR1_uc010xto.2_Missense_Mutation_p.V448A|HKR1_uc002ogc.3_Missense_Mutation_p.V447A|HKR1_uc010xtp.2_Missense_Mutation_p.V405A|HKR1_uc002ogd.3_Missense_Mutation_p.V405A NM_181786 NP_861451 P10072 HKR1_HUMAN Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA. 466 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CACTCAGGGGTTAAACCTTAT 0.488000 30 15 0 0 0.000422831 0 0 RGS11 8786 broad.mit.edu 37 16 321436 321436 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:321436C>T uc002cgj.1 - 10 714 c.711G>A c.(709-711)ctG>ctA p.L237L LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Silent_p.L216L|RGS11_uc010bqs.1_Silent_p.L226L|RGS11_uc002cgk.1_Silent_p.L53L NM_183337 NP_003825 O94810 RGS11_HUMAN Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA. 237 G protein gamma. 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|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GGGTCCTGCCCAGCGCTTTCC 0.647000 12 5 0 0 0.000602214 0 0 RASSF9 9182 broad.mit.edu 37 12 86198973 86198973 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:86198973C>T uc001taf.1 - 1 1154 c.815G>A c.(814-816)cGa>cAa p.R272Q NM_005447 NP_005438 O75901 RASF9_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA. 272 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity p.R272*(1) endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATATTTCAGTCGTTCTTCCAG 0.393000 83 36 0 0 0.000953801 0 0 LRBA 987 broad.mit.edu 37 4 151199140 151199140 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:151199140C>T uc010ipj.3 - 56 8610 c.8366G>A c.(8365-8367)cGa>cAa p.R2789Q LRBA_uc010ipi.3_Missense_Mutation_p.R311Q|LRBA_uc003ils.4_Missense_Mutation_p.R684Q|LRBA_uc003ilt.4_Missense_Mutation_p.R1437Q|LRBA_uc003ilu.4_Missense_Mutation_p.R2777Q|LRBA_uc003ilr.4_Missense_Mutation_p.R209Q NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 2789 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CTGCCCATCTCGGCTCAGCTG 0.542000 18 11 0 0 0.00136819 0 0 COL21A1 81578 broad.mit.edu 37 6 56035800 56035800 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:56035800C>T uc003pcs.3 - 3 999 c.767G>A c.(766-768)gGa>gAa p.G256E COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G256E|COL21A1_uc003pcu.1_Missense_Mutation_p.G256E NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 256 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TACTTCATATCCTTTTATCTT 0.338000 76 21 0 0 0.00188189 0 0 RALGDS 5900 broad.mit.edu 37 9 135977952 135977952 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:135977952G>A uc004cco.3 - 13 1940 c.1920C>T c.(1918-1920)aaC>aaT p.N640N RALGDS_uc004ccn.3_5'Flank|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Silent_p.N628N|RALGDS_uc004ccr.3_Silent_p.N639N|RALGDS_uc011mcv.2_Silent_p.N611N|RALGDS_uc004ccs.3_Silent_p.N585N|RALGDS_uc011mcw.2_Silent_p.N711N|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_Silent_p.N409N|RALGDS_uc004ccu.1_Silent_p.N409N NM_006266 NP_006257 Q12967 GNDS_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA. 640 Ras-GEF. Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CGCACGACAGGTTGTAGCTAT 0.642000 T CIITA """PMBL, Hodgkin Lymphona, """ 35 24 0 0 0.000720815 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416244 57416244 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:57416244C>T uc002eli.3 + 2 561 c.494C>T c.(493-495)tCa>tTa p.S165L NM_002996 NP_002987 P78423 X3CL1_HUMAN Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA. 165 Mucin-like stalk. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 ACTGGTTCCTCAGGGACCAGG 0.672000 13 16 0 0 0.00074312 0 0 LY9 4063 broad.mit.edu 37 1 160769865 160769865 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:160769865C>T uc001fwu.3 + 1 497 c.447C>T c.(445-447)ttC>ttT p.F149F LY9_uc001fwt.3_Silent_p.F149F|LY9_uc010pjs.1_Silent_p.F149F|LY9_uc001fwv.3_Silent_p.F149F|LY9_uc001fww.3_Silent_p.F149F|LY9_uc001fwy.1_Silent_p.F51F NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 149 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCACCCTGTTCGTCTATGGTG 0.373000 36 65 0 0 0.000781405 0 0 KIAA0355 9710 broad.mit.edu 37 19 34832982 34832983 + Nonsense_Mutation DNP CC TA TA TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:34832982_34832983CC>TA uc002nvd.4 + 9 3002_3003 c.2143_2144CC>TA c.(2143-2145)ccg>TAg p.P715* NM_014686 NP_055501 O15063 K0355_HUMAN Homo sapiens KIAA0355 (KIAA0355), mRNA. 715 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GACACCCCAGCCGGGACTGGCA 0.649000 46 25 0 0 6.4e-05 0 0 IPO4 79711 broad.mit.edu 37 14 24655589 24655589 + Silent SNP G T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:24655589G>T uc001wmv.1 - 9 1930 c.909C>A c.(907-909)ccC>ccA p.P303P IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.P167P|IPO4_uc001wmy.1_Silent_p.P167P|IPO4_uc001wmz.2_Silent_p.P303P NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN Homo sapiens importin 4 (IPO4), mRNA. 303 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) GGCCTGGTGGGGGCTCAGCAG 0.547000 114 7 0.000274275 0.00229092 0.000274275 1 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150416143 150416143 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:150416143G>A uc003whq.3 + 1 148 c.8G>A c.(7-9)gGa>gAa p.G3E GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.G3E NM_130759 NP_570115 Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA. AGCATGGGAGGAAGGAAGATG 0.413000 39 28 0 0 0.00058488 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905766 144905766 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:144905766C>T uc022cfn.1 + 0 1823 c.1823C>T c.(1822-1824)tCc>tTc p.S608F SLITRK2_uc004fcd.3_Missense_Mutation_p.S608F|SLITRK2_uc010nsp.3_Missense_Mutation_p.S608F|SLITRK2_uc010nso.3_Missense_Mutation_p.S608F|SLITRK2_uc011mwq.2_Missense_Mutation_p.S608F|SLITRK2_uc011mwr.2_Missense_Mutation_p.S608F|SLITRK2_uc011mws.2_Missense_Mutation_p.S608F|SLITRK2_uc004fcg.3_Missense_Mutation_p.S608F|SLITRK2_uc011mwt.2_Missense_Mutation_p.S608F NM_032539 NP_115928 Q9H156 SLIK2_HUMAN Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA. 608 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCTAGTTCCTATCCTGAA 0.448000 38 17 0 0 0.000422831 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212520745 212520745 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:212520745G>A uc001hjb.3 + 5 1335 c.761G>A c.(760-762)gGa>gAa p.G254E PPP2R5A_uc010ptd.2_Missense_Mutation_p.G197E NM_006243 NP_006234 Q15172 2A5A_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA. 254 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) GAAATATTAGGAAGGTAGGTC 0.269000 106 6 0 0 0.00116845 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967386 41967386 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:41967386G>A uc010skn.2 + 9 2813 c.2805G>A c.(2803-2805)atG>atA p.M935I PDZRN4_uc001rmq.4_Missense_Mutation_p.M677I|PDZRN4_uc009zjz.3_Missense_Mutation_p.M675I|PDZRN4_uc001rmr.3_Missense_Mutation_p.M562I NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 935 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGAGCGAGATGAAAATGGGGC 0.547000 27 11 0 0 0.000673444 0 0 UBE4B 10277 broad.mit.edu 37 1 10186901 10186901 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:10186901C>T uc021ogc.1 + 11 2445 c.1757C>T c.(1756-1758)tCc>tTc p.S586F UBE4B_uc001aqs.4_Missense_Mutation_p.S535F|UBE4B_uc001aqr.4_Missense_Mutation_p.S406F|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_5'UTR NM_001105562 NP_001099032 O95155 UBE4B_HUMAN Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA. 535 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) AAAGAGTGCTCCCTCGACAGT 0.323000 41 37 0 0 0.000680045 0 0 TNR 7143 broad.mit.edu 37 1 175355293 175355293 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:175355293C>T uc001gkp.1 - 5 1733 c.1652G>A c.(1651-1653)cGg>cAg p.R551Q TNR_uc009wwu.1_Missense_Mutation_p.R551Q NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 551 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGGCTGCAGCCGGAAGGTGGT 0.597000 28 5 0 0 0.000602214 0 0 GLCCI1 113263 broad.mit.edu 37 7 8125886 8125886 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:8125886C>T uc003srk.3 + 7 1921 c.1362C>T c.(1360-1362)atC>atT p.I454I NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA. 454 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TTAATTTCATCCCAACCGGAT 0.438000 182 84 0 0 0.000781405 0 0 OIT3 170392 broad.mit.edu 37 10 74690333 74690334 + Missense_Mutation DNP CG AT AT TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:74690333_74690334CG>AT uc001jte.1 + 7 1623_1624 c.1405_1406CG>AT c.(1405-1407)cgg>ATg p.R469M OIT3_uc009xqs.1_Non-coding_Transcript NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA. 469 ZP. nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) GTACACATCCCGGGATCACCTA 0.436000 132 6 0 0 6.4e-05 0 0 ABCA12 26154 broad.mit.edu 37 2 215914452 215914452 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:215914452G>A uc002vew.3 - 5 811 c.591C>T c.(589-591)ttC>ttT p.F197F ABCA12_uc010zjn.2_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 197 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGGTCCAAGAGAAGGCATCAT 0.363000 22 23 0 0 0.00047179 0 0 RYR1 6261 broad.mit.edu 37 19 39023333 39023333 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:39023333G>A uc002oit.3 + 77 11346 c.11216G>A c.(11215-11217)gGg>gAg p.G3739E RYR1_uc002oiu.3_Missense_Mutation_p.G3734E|RYR1_uc002oiv.1_Missense_Mutation_p.G654E|RYR1_uc010xuf.1_Missense_Mutation_p.G659E NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3739 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGGAGGGAGGGGAGAACGGT 0.602000 21 7 0 0 0.000673444 0 0 ZNF574 64763 broad.mit.edu 37 19 42583941 42583941 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:42583941C>T uc002osk.4 + 1 1688 c.1453C>T c.(1453-1455)Cca>Tca p.P485S ZNF574_uc002osm.4_Missense_Mutation_p.P395S|ZNF574_uc021uva.1_Missense_Mutation_p.P395S NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN Homo sapiens zinc finger protein 574 (ZNF574), mRNA. 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) GCATTCATGTCCATGTGGGAA 0.592000 34 30 0 0 0.000491102 0 0 UNC13B 10497 broad.mit.edu 37 9 35398948 35398948 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:35398948G>A uc003zwr.3 + 31 4036 c.3744G>A c.(3742-3744)ggG>ggA p.G1248G UNC13B_uc003zwq.3_Silent_p.G1248G NM_006377 NP_006368 O14795 UN13B_HUMAN Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA. 1248 excretion|induction of apoptosis|intracellular signal transduction Golgi apparatus|cell junction|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GGGGCACAGGGAATGCATCTC 0.572000 13 17 0 0 0.00074312 0 0 OR4M1 441670 broad.mit.edu 37 14 20248603 20248603 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:20248603G>A uc010tku.2 + 0 122 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G41A(2)|p.P40T(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCCTACCAGGAAATATCCTT 0.423000 230 82 0 0 0.000781405 0 0 DIO3 1735 broad.mit.edu 37 14 102027999 102027999 + Missense_Mutation SNP G T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:102027999G>T uc021sdx.1 + 0 312 c.166G>T c.(166-168)Gcc>Tcc p.A56S DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA. 30 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) CCTCGGCACGGCCTTCATGCT 0.657000 38 20 2.65835e-16 2.27045e-15 0.00127121 1 0 LIG1 3978 broad.mit.edu 37 19 48634356 48634357 + Missense_Mutation DNP CC TT TT TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:48634356_48634357CC>TT uc002pia.1 - 18 1917_1918 c.1797_1798GG>AA c.(1795-1800)ccggac>ccAAac p.D600N LIG1_uc010xze.1_Missense_Mutation_p.D293N|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.D532N|LIG1_uc010xzg.1_Missense_Mutation_p.D569N NM_000234 NP_000225 P18858 DNLI1_HUMAN Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA. 600 DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CTGATGATGTCCGGGTACTTCC 0.594000 Nucleotide excision repair (NER) 23 15 0 0 6.4e-05 0 0 PSD2 84249 broad.mit.edu 37 5 139217314 139217314 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:139217314C>T uc003leu.1 + 11 1975 c.1770C>T c.(1768-1770)tcC>tcT p.S590S NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA. 590 PH. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAAGAAGTCCAACGTGCTGA 0.592000 15 15 0 0 0.000308642 0 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986063 31986063 + Missense_Mutation SNP C T T rs28567421 byFrequency TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr21:31986063C>T uc002yop.3 - 0 161 c.161G>A c.(160-162)cGc>cAc p.R54H KRTAP20-1_uc011ade.2_5'Flank NM_181602 NP_853633 Q3LI64 KRA61_HUMAN Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA. 54 cytosol|intermediate filament p.R54C(1)|p.S53C(1) breast(2)|endometrium(1)|lung(7) 10 ACAGAGGGAGCGGGAGCCATA 0.587000 53 23 0 0 0.00106085 0 0 KCNH5 27133 broad.mit.edu 37 14 63417257 63417257 + Silent SNP A G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:63417257A>G uc001xfx.3 - 6 1014 c.963T>C c.(961-963)agT>agC p.S321S KCNH5_uc001xfy.3_Silent_p.S321S|KCNH5_uc001xfz.1_Silent_p.S263S|KCNH5_uc001xga.3_Silent_p.S263S NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 321 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTTTTAAAGAACTGAAGAGAC 0.433000 25 13 0 0 0.000566183 0 0 TMEM63C 57156 broad.mit.edu 37 14 77706030 77706031 + Missense_Mutation DNP CC TT TT TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:77706030_77706031CC>TT uc001xtf.2 + 11 1103_1104 c.891_892CC>TT c.(889-894)gcccgc>gcTTgc p.R298C TMEM63C_uc010asq.1_Missense_Mutation_p.R298C NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN Homo sapiens transmembrane protein 63C (TMEM63C), mRNA. 298 integral to membrane p.R298P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) ACCCCTGTGCCCGCCTGTGCTT 0.624000 7 4 0 0 6.4e-05 0 0 COL22A1 169044 broad.mit.edu 37 8 139809090 139809090 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:139809090G>A uc003yvd.3 - 11 2015 c.1568C>T c.(1567-1569)cCt>cTt p.P523L NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 523 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTGGCCAAAAGGTCCTATGCC 0.463000 HNSCC(7;0.00092) 98 160 0 0 0.000781405 0 0 TCRA 0 broad.mit.edu 37 14 22293674 22293674 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:22293674G>A uc001wbw.2 + 0 12 c.3G>A c.(1-3)atG>atA p.M1I TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript SubName: Full=Alpha-chain C region; Flags: Fragment; GAATAAAAATGAAAAAGCATC 0.353000 74 46 0 0 0.000781405 0 0 DSC1 1823 broad.mit.edu 37 18 28722082 28722082 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:28722082C>T uc002kwn.3 - 8 1402 c.1140G>A c.(1138-1140)caG>caA p.Q380Q DSC1_uc002kwm.3_Silent_p.Q380Q NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 380 Cadherin 3. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding p.D379N(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTGGCAAATCCTGATCCTGTA 0.343000 53 28 0 0 0.001512 0 0 NFIC 4782 broad.mit.edu 37 19 3434310 3434310 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:3434310C>T uc010xhi.2 + 4 815 c.745C>T c.(745-747)Ctg>Ttg p.L249L NFIC_uc002lxo.3_Silent_p.L240L|NFIC_uc010xhh.2_Silent_p.L240L|NFIC_uc010xhj.2_Silent_p.L249L|NFIC_uc002lxp.3_Silent_p.L249L NM_001245002 NP_001231931 P08651 NFIC_HUMAN Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA. 249 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CAACTTCTCCCTGGGGGAGCT 0.617000 28 10 0 0 0.00136819 0 0 FAM9A 171482 broad.mit.edu 37 X 8767100 8767100 + Missense_Mutation SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:8767100T>C uc022bsk.1 - 2 263 c.127A>G c.(127-129)Acc>Gcc p.T43A FAM9A_uc004csg.3_Missense_Mutation_p.T43A NM_001171186 NP_777611 Q8IZU1 FAM9A_HUMAN Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA. 43 nucleolus p.T43I(1) endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 18 Hepatocellular(5;0.219) GGCTCCATGGTTGGCTGTCCT 0.542000 6 18 0 0 0.000958276 0 0 GRID1 2894 broad.mit.edu 37 10 87362307 87362307 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:87362307C>T uc001kdl.1 - 15 2854 c.2753G>A c.(2752-2754)cGg>cAg p.R918Q GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.R489Q|LOC100507470_uc001kdk.2_Intron NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 918 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTGGTACTCCCGTGTCGGCTC 0.617000 Multiple Myeloma(13;0.14) 15 6 0 0 0.00116845 0 0 TIAM2 26230 broad.mit.edu 37 6 155569309 155569309 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:155569309G>A uc003qqb.3 + 21 5101 c.3828G>A c.(3826-3828)ctG>ctA p.L1276L TIAM2_uc003qqe.3_Silent_p.L1276L|TIAM2_uc010kjj.3_Silent_p.L809L|TIAM2_uc003qqf.3_Silent_p.L652L|TIAM2_uc011efl.1_Silent_p.L612L|TIAM2_uc003qqg.3_Silent_p.L588L|TIAM2_uc003qqh.3_Silent_p.L201L NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 1276 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) ACTACCACCTGACGGGTGAGG 0.692000 OREG0017745 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 20 0 0 0.000720815 0 0 CEACAM21 90273 broad.mit.edu 37 19 42083709 42083709 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:42083709G>A uc002ore.4 + 1 318 c.222G>A c.(220-222)gaG>gaA p.E74E CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Silent_p.E74E NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA. 74 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 AAACGGTGGAGCCCAACCAGC 0.502000 27 7 0 0 0.000157383 0 0 FAM47B 170062 broad.mit.edu 37 X 34961078 34961078 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:34961078G>A uc004ddi.2 + 0 166 c.130G>A c.(130-132)Gac>Aac p.D44N NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 44 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCCGCCTGTGGACACCCAGAA 0.567000 15 7 0 0 0.000157383 0 0 KCNB2 9312 broad.mit.edu 37 8 73850232 73850232 + Missense_Mutation SNP A T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:73850232A>T uc003xzb.3 + 2 3230 c.2642A>T c.(2641-2643)gAa>gTa p.E881V NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 881 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGTAGTCAAGAAGGGTGCAAG 0.488000 40 45 0 0 0.000680045 0 0 RBPMS 11030 broad.mit.edu 37 8 30402095 30402095 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:30402095C>T uc003xic.1 + 5 1147 c.482C>T c.(481-483)gCt>gTt p.A161V RBPMS_uc003xid.1_Missense_Mutation_p.A161V|RBPMS_uc003xie.1_Missense_Mutation_p.A161V|RBPMS_uc003xif.1_Non-coding_Transcript|RBPMS_uc011lba.1_Missense_Mutation_p.A161V|RBPMS_uc003xib.3_Missense_Mutation_p.A161V|RBPMS_uc010lvh.1_Missense_Mutation_p.A57V NM_006867 NP_006858 Q93062 RBPMS_HUMAN Homo sapiens RNA binding protein with multiple splicing (RBPMS), transcript variant 4, mRNA. 161 RNA processing|positive regulation of SMAD protein import into nucleus|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) TTAGCGCCTGCTCTACCTCCT 0.542000 28 32 0 0 0.00058488 0 0 ODZ3 55714 broad.mit.edu 37 4 183714789 183714789 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:183714789G>A uc003ivd.1 + 24 7039 c.6964G>A c.(6964-6966)Ggg>Agg p.G2322R NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 2322 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) CACTGCATATGGGGAAATCTA 0.413000 25 18 0 0 0.00074312 0 0 CROCCP3 114819 broad.mit.edu 37 1 16817192 16817192 + RNA SNP A G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:16817192A>G uc001ays.2 - 2 c.224T>C CROCCP3_uc001ayt.2_Non-coding_Transcript Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 3 (CROCCP3), non-coding RNA. CACCTTTTGTATGTCCTCACT 0.627000 4 4 0 0 0.000602214 0 0 DOCK9 23348 broad.mit.edu 37 13 99461655 99461655 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:99461655G>A uc001vnt.2 - 47 5376 c.5321C>T c.(5320-5322)tCg>tTg p.S1774L DOCK9_uc001vnw.2_Missense_Mutation_p.S1773L|DOCK9_uc021rlw.1_Missense_Mutation_p.S1773L|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.S1751L|DOCK9_uc001vnq.2_Missense_Mutation_p.S323L|DOCK9_uc001vnr.2_Missense_Mutation_p.S417L|DOCK9_uc010tin.1_Missense_Mutation_p.S394L|DOCK9_uc001vns.2_Missense_Mutation_p.S323L|DOCK9_uc010tio.1_Missense_Mutation_p.S443L|DOCK9_uc010tip.1_Missense_Mutation_p.S484L|DOCK9_uc001vnu.1_Missense_Mutation_p.S323L|DOCK9_uc010tiq.1_Missense_Mutation_p.S729L NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA. 1774 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTGCGGCCCGAGTGCATGAC 0.552000 38 45 0 0 0.000781405 0 0 UMODL1 89766 broad.mit.edu 37 21 43508509 43508509 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr21:43508509C>T uc002zag.1 + 4 709 c.709C>T c.(709-711)Cca>Tca p.P237S UMODL1_uc002zad.1_Missense_Mutation_p.P165S|UMODL1_uc002zae.1_Missense_Mutation_p.P165S|UMODL1_uc002zaf.1_Missense_Mutation_p.P237S|UMODL1_uc010gow.1_Missense_Mutation_p.P29S|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.P29S NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 237 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CCTGCCACGGCCACTGCCTGT 0.637000 18 6 0 0 0.00116845 0 0 RERGL 79785 broad.mit.edu 37 12 18234137 18234137 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:18234137C>T uc001rdq.3 - 5 800 c.606G>A c.(604-606)agG>agA p.R202R NM_024730 NP_079006 Q9H628 RERGL_HUMAN Homo sapiens RERG/RAS-like (RERGL), mRNA. 202 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 AAACAGATTTCCTTCTCTTTC 0.333000 24 15 0 0 0.000422831 0 0 DNAH3 55567 broad.mit.edu 37 16 21008662 21008662 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:21008662C>T uc010vbe.2 - 43 6544 c.6544G>A c.(6544-6546)Gac>Aac p.D2182N NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2182 AAA 3 (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) AGCAGCATGTCCACGATGTCC 0.557000 31 24 0 0 0.000720815 0 0 SMTNL1 219537 broad.mit.edu 37 11 57314011 57314011 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:57314011G>A uc021qjh.1 + 5 1228 c.1226G>A c.(1225-1227)aGt>aAt p.S409N NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN Homo sapiens smoothelin-like 1 (SMTNL1), mRNA. 409 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AGCTGGAGCAGTGGTATGGCC 0.602000 32 20 0 0 0.000720815 0 0 ATXN7 6314 broad.mit.edu 37 3 63968664 63968664 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:63968664C>T uc003dlv.3 + 7 1615 c.1062C>T c.(1060-1062)acC>acT p.T354T ATXN7_uc003dlw.4_Silent_p.T354T|ATXN7_uc021wzy.1_Silent_p.T354T|ATXN7_uc011bfn.2_Silent_p.T209T NM_000333 NP_000324 O15265 ATX7_HUMAN Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. 354 SCA7. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) ATCTCGACACCAAGAAGCCCT 0.488000 73 39 0 0 0.000781405 0 0 SAMD9 54809 broad.mit.edu 37 7 92734352 92734352 + Silent SNP C T T rs145911444 byFrequency TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:92734352C>T uc003umf.3 - 2 1329 c.1059G>A c.(1057-1059)acG>acA p.T353T SAMD9_uc003umg.3_Silent_p.T353T|SAMD9_uc022ahg.1_Silent_p.T353T NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 353 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTTTATTTTTCGTAATGTCCT 0.318000 58 28 0 0 0.001512 0 0 FLNB 2317 broad.mit.edu 37 3 58111339 58111339 + Silent SNP C T T rs150901141 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:58111339C>T uc003djj.2 + 22 4095 c.3930C>T c.(3928-3930)gaC>gaT p.D1310D FLNB_uc010hne.2_Silent_p.D1310D|FLNB_uc003djk.2_Silent_p.D1310D|FLNB_uc010hnf.2_Silent_p.D1310D|FLNB_uc003djl.2_Silent_p.D1141D|FLNB_uc003djm.2_Silent_p.D1141D NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 1310 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CATATGATGACGTGCCTATCC 0.463000 70 36 0 0 0.000589545 0 0 KNTC1 9735 broad.mit.edu 37 12 123098305 123098305 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:123098305C>T uc001ucv.3 + 54 6037 c.5874C>T c.(5872-5874)tcC>tcT p.S1958S KNTC1_uc010taf.2_Silent_p.S883S NM_014708 NP_055523 P50748 KNTC1_HUMAN Homo sapiens kinetochore associated 1 (KNTC1), mRNA. 1958 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding p.E1957K(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GCCACGAGTCCATGGTAGGTA 0.433000 16 12 0 0 0.000219431 0 0 VSTM4 196740 broad.mit.edu 37 10 50315832 50315832 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:50315832C>T uc001jhf.2 - 1 293 c.264G>A c.(262-264)ggG>ggA p.G88G VSTM4_uc001jhh.2_Silent_p.G88G NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA. 88 Ig-like. integral to membrane|plasma membrane p.G88W(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GGCTGAAATTCCCATAGTACT 0.627000 30 12 0 0 0.00136819 0 0 MAP4K4 9448 broad.mit.edu 37 2 102480488 102480488 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:102480488C>T uc002tbc.3 + 16 2450 c.2072C>T c.(2071-2073)tCa>tTa p.S691L MAP4K4_uc002tbf.3_Intron|MAP4K4_uc002tbd.3_Intron|MAP4K4_uc010yvy.2_Missense_Mutation_p.S606L|MAP4K4_uc002tbh.3_Intron|MAP4K4_uc002tbg.3_Intron|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.S586L|MAP4K4_uc002tbk.3_Intron|MAP4K4_uc021vlq.1_Intron|MAP4K4_uc002tbl.3_5'Flank NM_145687 NP_001229488 O95819 M4K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA. 617 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R690R(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGGTCTAGATCAGACAGTGAC 0.453000 25 7 0 0 8.12818e-05 0 0 GPR158 57512 broad.mit.edu 37 10 25887955 25887955 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:25887955C>T uc001isj.3 + 10 3460 c.3400C>T c.(3400-3402)Ctc>Ttc p.L1134F GPR158_uc001isk.3_Missense_Mutation_p.L509F NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 1134 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAATGAAAATCTCAACCAAAT 0.463000 30 9 0 0 0.000442599 0 0 NLRP10 338322 broad.mit.edu 37 11 7982349 7982349 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:7982349C>T uc001mfv.1 - 1 827 c.810G>A c.(808-810)aaG>aaA p.K270K NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 270 NACHT. ATP binding p.P269T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCAGGCTCTCCTTGGGACTCA 0.552000 54 25 0 0 0.00106085 0 0 SOGA2 23255 broad.mit.edu 37 18 8718623 8718623 + Nonsense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:8718623C>T uc002knr.2 + 2 317 c.175C>T c.(175-177)Cga>Tga p.R59* SOGA2_uc002knq.2_Nonsense_Mutation_p.R59* NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA. 410 TGAGCTTATTCGAAGCCTGGA 0.572000 33 16 0 0 0.00121646 0 0 ELN 2006 broad.mit.edu 37 7 73456982 73456982 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:73456982C>T uc003tzw.3 + 5 362 c.271C>T c.(271-273)Ctg>Ttg p.L91L ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Silent_p.L91L|ELN_uc003tzy.3_Silent_p.L81L|ELN_uc003tzz.3_Silent_p.L79L|ELN_uc003tzo.3_Silent_p.L91L|ELN_uc003tzp.3_Silent_p.L81L|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.L91L|ELN_uc003tzt.3_Silent_p.L91L|ELN_uc003tzu.3_Silent_p.L91L|ELN_uc003tzv.3_Silent_p.L81L|ELN_uc011kfe.2_Intron|ELN_uc003tzx.3_Silent_p.L81L|ELN_uc011kff.2_Silent_p.L91L NM_000501 NP_001075224 P15502 ELN_HUMAN Homo sapiens elastin (ELN), transcript variant 1, mRNA. 91 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TCCGGGGGCTCTGGTGCCTGG 0.617000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 29 13 0 0 0.000219431 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846077 43846077 + Splice_Site SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:43846077C>T uc010skx.2 - 14 2079 c.2079_splice c.e14+1 p.M693_splice NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 693 Cys-rich. 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) GTTTACTTACCATACACTGGC 0.303000 61 19 0 0 0.000586117 0 0 KCNE3 10008 broad.mit.edu 37 11 74168377 74168377 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:74168377C>T uc021qng.1 - 0 232 c.232G>A c.(232-234)Gga>Aga p.G78R KCNE3_uc001ovc.3_Missense_Mutation_p.G78R|KCNE3_uc001ovd.2_Missense_Mutation_p.G78R NM_005472 NP_005463 Q9Y6H6 KCNE3_HUMAN Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA. 78 integral to membrane voltage-gated potassium channel activity cervix(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(11;2.86e-06) CGGGTGTATCCCAGGATGAGG 0.517000 25 10 0 0 0.000442599 0 0 POP1 10940 broad.mit.edu 37 8 99148715 99148715 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:99148715C>T uc003yij.4 + 7 1117 c.1017C>T c.(1015-1017)atC>atT p.I339I POP1_uc011lgv.2_Silent_p.I339I|POP1_uc003yik.3_Silent_p.I339I NM_001145860 NP_055844 Q99575 POP1_HUMAN Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA. 339 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) TTTAGGATATCTTAGAGGAAA 0.318000 63 69 0 0 0.000781405 0 0 DCLK3 85443 broad.mit.edu 37 3 36779400 36779400 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:36779400G>A uc003cgi.2 - 1 1242 c.751C>T c.(751-753)Cct>Tct p.P251S NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 251 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TCTGTGACAGGAAGAACTTCC 0.577000 69 38 0 0 0.00128727 0 0 SERPINA9 327657 broad.mit.edu 37 14 94929550 94929550 + Silent SNP C T T rs139618805 by1000genomes TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:94929550C>T uc001ydf.3 - 4 1349 c.1188G>A c.(1186-1188)tcG>tcA p.S396S SERPINA9_uc001yde.3_Silent_p.S296S|SERPINA9_uc010avc.3_Silent_p.S247S|SERPINA9_uc001ydg.3_Silent_p.S360S NM_175739 NP_783866 Q86WD7 SPA9_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA. 378 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity p.S396S(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GGCCATCCTTCGATCGGACTA 0.498000 55 24 0 0 0.00127121 0 0 GABRE 2564 broad.mit.edu 37 X 151123984 151123984 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:151123984G>A uc004ffi.3 - 7 1047 c.993C>T c.(991-993)ttC>ttT p.F331F GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 331 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AGACACGCGGGAAATTCTTAC 0.507000 60 18 0 0 0.000958276 0 0 TTC30B 150737 broad.mit.edu 37 2 178417083 178417083 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:178417083C>T uc002uln.3 - 0 442 c.409G>A c.(409-411)Gag>Aag p.E137K TTC30B_uc010zfc.1_5'UTR NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA. 137 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GGCAGCTGCTCTACCAGGCTC 0.602000 62 53 0 0 0.000781405 0 0 SEC23B 10483 broad.mit.edu 37 20 18513315 18513315 + Missense_Mutation SNP G T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:18513315G>T uc002wra.2 + 10 1702 c.1241G>T c.(1240-1242)cGg>cTg p.R414L SEC23B_uc010zsb.2_Missense_Mutation_p.R396L|SEC23B_uc002wrb.2_Missense_Mutation_p.R414L|SEC23B_uc002wqz.2_Missense_Mutation_p.R414L|SEC23B_uc002wrc.2_Missense_Mutation_p.R414L NM_032985 NP_116781 Q15437 SC23B_HUMAN Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA. 414 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 TAGACCTCTCGGGAACTGAAG 0.423000 71 5 0.00116845 0.0097061 0.00116845 1 0 NFXL1 152518 broad.mit.edu 37 4 47899986 47899986 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:47899986G>A uc010igh.3 - 8 1379 c.1202C>T c.(1201-1203)tCa>tTa p.S401L NFXL1_uc003gxp.3_Missense_Mutation_p.S401L|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.S401L NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA. 401 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 AGTCTTACTTGATTTCTGACA 0.383000 25 21 0 0 0.00188189 0 0 ATRX 546 broad.mit.edu 37 X 76937757 76937757 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:76937757G>A uc004ecp.4 - 8 3223 c.2991C>T c.(2989-2991)gaC>gaT p.D997D ATRX_uc004ecq.4_Silent_p.D959D|ATRX_uc004eco.4_Silent_p.D782D|ATRX_uc004ecr.2_Silent_p.D929D|ATRX_uc010nlx.1_Silent_p.D968D|ATRX_uc010nly.1_Silent_p.D942D NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 997 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTTCTTAAAGTCTGAAGGTT 0.343000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 127 45 0 0 0.000437636 0 0 COL4A1 1282 broad.mit.edu 37 13 110827011 110827011 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:110827011G>A uc001vqw.4 - 37 3406 c.3284C>T c.(3283-3285)tCc>tTc p.S1095F NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1095 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) AAGGCCTGGGGACCCTGGCAT 0.532000 94 34 0 0 0.000491102 0 0 RGS12 6002 broad.mit.edu 37 4 3427272 3427273 + Missense_Mutation DNP CC TT TT TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:3427272_3427273CC>TT uc003ggw.3 + 13 4220_4221 c.3316_3317CC>TT c.(3316-3318)cct>TTt p.P1106F RGS12_uc003ggv.3_Missense_Mutation_p.P1106F|RGS12_uc003ggy.1_Missense_Mutation_p.P504F|RGS12_uc003ggz.3_Missense_Mutation_p.P458F|RGS12_uc010icu.1_Missense_Mutation_p.P305F|RGS12_uc011bvs.2_Missense_Mutation_p.P448F|RGS12_uc003gha.3_Missense_Mutation_p.P448F|RGS12_uc010icv.3_Missense_Mutation_p.P305F|RGS12_uc003ghb.2_Missense_Mutation_p.P305F NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 1106 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGAGAAGGATCCTTCCAGAGGA 0.634000 29 27 0 0 6.4e-05 0 0 CYYR1 116159 broad.mit.edu 37 21 27840930 27840930 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr21:27840930C>T uc002yme.3 - 3 680 c.358G>A c.(358-360)Gac>Aac p.D120N CYYR1_uc002ymd.3_Missense_Mutation_p.D119N|CYYR1_uc011ack.2_Non-coding_Transcript NM_052954 NP_443186 Q96J86 CYYR1_HUMAN Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA. 119 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 ATCTCGTGGTCGTGACCGTAG 0.532000 34 19 0 0 0.00188189 0 0 INSL6 11172 broad.mit.edu 37 9 5164230 5164230 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:5164230C>T uc003zix.3 - 1 341 c.325G>A c.(325-327)Gaa>Aaa p.E109K NM_007179 NP_009110 Q9Y581 INSL6_HUMAN Homo sapiens insulin-like 6 (INSL6), mRNA. 109 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) GACTGCATTTCCCAACTGTTT 0.318000 76 31 0 0 0.000491102 0 0 RGS8 85397 broad.mit.edu 37 1 182616005 182616005 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:182616005C>T uc010pnw.1 - 6 666 c.408G>A c.(406-408)caG>caA p.Q136Q RGS8_uc001gpn.1_Silent_p.Q136Q|RGS8_uc001gpm.1_Silent_p.Q154Q NM_001102450 NP_001095920 P57771 RGS8_HUMAN Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA. 136 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 GGGATGGCTCCTGCAGGTTCT 0.502000 46 90 0 0 0.000781405 0 0 ZMYND15 84225 broad.mit.edu 37 17 4644070 4644070 + Missense_Mutation SNP A G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:4644070A>G uc002fyu.2 + 0 257 c.227A>G c.(226-228)gAa>gGa p.E76G CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.E76G|ZMYND15_uc002fyt.2_Missense_Mutation_p.E76G NM_001136046 NP_001129518 Q9H091 ZMY15_HUMAN Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA. 76 zinc ion binding p.E76*(1) endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 CAAGGGGCAGAACCAGGTCCT 0.632000 6 7 0 0 8.12818e-05 0 0 KIAA1328 57536 broad.mit.edu 37 18 34802140 34802140 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:34802140C>T uc002kzz.3 + 9 1706 c.1684C>T c.(1684-1686)Cct>Tct p.P562S KIAA1328_uc002lab.3_3'UTR|KIAA1328_uc002lac.1_Missense_Mutation_p.P421S NM_020776 NP_065827 Q86T90 K1328_HUMAN Homo sapiens KIAA1328 (KIAA1328), mRNA. 562 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) GCACAGAACCCCTGAAGAGTT 0.433000 5 3 0 0 6.4e-05 0 0 ASB1 51665 broad.mit.edu 37 2 239344455 239344455 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:239344455C>T uc002vyg.3 + 2 381 c.295C>T c.(295-297)Cgg>Tgg p.R99W NM_001040445 NP_001035535 Q9Y576 ASB1_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 1 (ASB1), mRNA. 99 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) CTTCCTCATCCGGAAGGGGGC 0.602000 28 4 0 0 0.000602214 0 0 CR1 1378 broad.mit.edu 37 1 207785085 207785085 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:207785085C>T uc001hfy.3 + 29 5149 c.5009C>T c.(5008-5010)tCa>tTa p.S1670L CR1_uc001hfx.3_Missense_Mutation_p.S2120L|CR1_uc021pij.1_Missense_Mutation_p.S1670L NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 1670 Sushi 26. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GACAACTTTTCACCTGGGCAG 0.557000 43 48 0 0 0.000781405 0 0 CDKL2 8999 broad.mit.edu 37 4 76529007 76529007 + Silent SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:76529007T>C uc011cbp.2 - 5 1314 c.789A>G c.(787-789)ttA>ttG p.L263L CDKL2_uc003hiq.3_Silent_p.L263L|CDKL2_uc010iix.1_Non-coding_Transcript NM_003948 NP_003939 Q92772 CDKL2_HUMAN Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA. 263 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTACCTTTGCTAAATCTATCA 0.333000 74 12 0 0 0.000422831 0 0 PRDM12 59335 broad.mit.edu 37 9 133553953 133553953 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:133553953G>A uc004bzt.1 + 3 668 c.608G>A c.(607-609)gGa>gAa p.G203E NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN Homo sapiens PR domain containing 12 (PRDM12), mRNA. 203 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GTGTGGTACGGAAACTCACAC 0.597000 39 22 0 0 0.000720815 0 0 NUP210 23225 broad.mit.edu 37 3 13363732 13363732 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:13363732C>T uc003bxv.1 - 34 4959 c.4876G>A c.(4876-4878)Gat>Aat p.D1626N NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 1626 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GTGAACACATCTTGAGATGGG 0.542000 63 34 0 0 0.000692331 0 0 DDR1 780 broad.mit.edu 37 6 30862422 30862422 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:30862422C>T uc003nrv.3 + 9 1529 c.1487C>T c.(1486-1488)tCc>tTc p.S496F DDR1_uc010jse.3_Missense_Mutation_p.S496F|DDR1_uc003nrq.3_Missense_Mutation_p.S496F|DDR1_uc003nrr.3_Missense_Mutation_p.S496F|DDR1_uc003nrs.3_Missense_Mutation_p.S496F|DDR1_uc003nrt.3_Missense_Mutation_p.S496F|DDR1_uc011dms.2_Missense_Mutation_p.S514F|DDR1_uc003nru.3_Missense_Mutation_p.S496F|DDR1_uc003nry.2_Missense_Mutation_p.S496F|DDR1_uc003nrx.2_Missense_Mutation_p.P469S|DDR1_uc003nrw.1_Missense_Mutation_p.P268S NM_013994 NP_054700 Q08345 DDR1_HUMAN Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA. 496 Gly/Pro-rich. S -> A (in a lung squamous cell carcinoma sample; somatic mutation). cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.A496S(1) central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) CCGCCCCACTCCGCTCCCTGT 0.587000 67 22 0 0 0.000586117 0 0 AGFG2 3268 broad.mit.edu 37 7 100160517 100160517 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:100160517C>T uc003uvf.3 + 8 1255 c.1119C>T c.(1117-1119)gcC>gcT p.A373A NM_006076 NP_006067 O95081 AGFG2_HUMAN Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA. 373 Pro-rich. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.A372V(1)|p.A372A(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTCCCGCCGCCCAGTCCCCGC 0.582000 13 8 0 0 0.000978159 0 0 PCDH18 54510 broad.mit.edu 37 4 138450971 138450971 + Missense_Mutation SNP C A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:138450971C>A uc003ihe.4 - 0 2659 c.2272G>T c.(2272-2274)Gac>Tac p.D758Y PCDH18_uc003ihf.4_Missense_Mutation_p.D751Y|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.D538Y|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 758 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AATGTGATGTCCCCTTTGTGA 0.498000 30 20 8.10497e-08 6.80728e-07 0.00152264 1 0 CKAP5 9793 broad.mit.edu 37 11 46839972 46839972 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:46839972G>A uc001ndi.2 - 2 266 c.140C>T c.(139-141)tCc>tTc p.S47F CKAP5_uc009ylg.1_5'UTR|CKAP5_uc001ndj.2_Missense_Mutation_p.S47F NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA. 47 G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TAAAAATTTGGACCACTCTGG 0.373000 147 78 0 0 0.000781405 0 0 OR13D1 286365 broad.mit.edu 37 9 107457355 107457355 + Missense_Mutation SNP A T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:107457355A>T uc011lvs.2 + 0 653 c.653A>T c.(652-654)aAa>aTa p.K218I NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA. 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 GCCCTTCTAAAACTTGTTTGT 0.363000 71 37 0 0 0.00170553 0 0 BSND 7809 broad.mit.edu 37 1 55472797 55472797 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:55472797C>T uc001cye.3 + 2 643 c.400C>T c.(400-402)Cct>Tct p.P134S NM_057176 NP_476517 Q8WZ55 BSND_HUMAN Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA. 134 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 CTTGCTGGCCCCTGAGATGGG 0.617000 29 5 0 0 0.000602214 0 0 ATXN2 6311 broad.mit.edu 37 12 111956089 111956089 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:111956089G>A uc001tsj.3 - 8 1771 c.1609C>T c.(1609-1611)Ccg>Tcg p.P537S ATXN2_uc001tsh.3_Missense_Mutation_p.P272S|ATXN2_uc001tsi.3_Missense_Mutation_p.P248S|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Missense_Mutation_p.P272S NM_002973 NP_002964 Q99700 ATX2_HUMAN Homo sapiens ataxin 2 (ATXN2), mRNA. 537 RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network RNA binding|protein C-terminus binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CCAGAATTCGGGTTGAAATCT 0.423000 56 25 0 0 0.00178596 0 0 ERC2 26059 broad.mit.edu 37 3 56053050 56053050 + Silent SNP A G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:56053050A>G uc021wzo.1 - 6 1791 c.1651T>C c.(1651-1653)Ttg>Ctg p.L551L ERC2_uc003dhr.1_Silent_p.L551L|ERC2_uc003dht.1_Silent_p.L22L NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 551 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TGTTCTTGCAAGTTTTCAATC 0.338000 14 5 0 0 0.000602214 0 0 XAB2 56949 broad.mit.edu 37 19 7692252 7692252 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:7692252G>A uc002mgx.3 - 3 425 c.399C>T c.(397-399)ttC>ttT p.F133F C19orf79_uc021unv.1_5'Flank|C19orf79_uc010dvi.2_5'Flank NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN Homo sapiens XPA binding protein 2 (XAB2), mRNA. 133 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 GGGCACGGTCGAAGGTGCGGC 0.647000 Direct reversal of damage;Nucleotide excision repair (NER) 13 8 0 0 0.00136819 0 0 THSD7B 80731 broad.mit.edu 37 2 137814398 137814398 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:137814398C>T uc002tva.1 + 1 455 c.455C>T c.(454-456)tCt>tTt p.S152F THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S42F 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) TGTGTAGTATCTGAGTTCTTA 0.493000 95 73 0 0 0.000781405 0 0 ALOX5AP 241 broad.mit.edu 37 13 31338102 31338102 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:31338102G>A uc010tdr.2 + 5 764 c.516G>A c.(514-516)ggG>ggA p.G172G ALOX5AP_uc001utf.2_Silent_p.G115G NM_001204406 NP_001191335 P20292 AL5AP_HUMAN Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA. 115 cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane arachidonic acid binding|protein N-terminus binding endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864) ACATATTTGGGAAACGCATCA 0.403000 111 105 0 0 0.000781405 0 0 C10orf68 79741 broad.mit.edu 37 10 33140760 33140760 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:33140760C>T uc001iwm.1 + 18 1898 c.1662C>T c.(1660-1662)ccC>ccT p.P554P C10orf68_uc001iwl.1_Silent_p.P509P|C10orf68_uc001iwn.4_Silent_p.P550P|C10orf68_uc010qei.1_Silent_p.P526P|C10orf68_uc001iwo.4_Non-coding_Transcript NM_024688 NP_078964 Q9H943 CJ068_HUMAN Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA. 550 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 ACTCTTCACCCTATGTGACTG 0.343000 76 51 0 0 0.000781405 0 0 PI4K2A 55361 broad.mit.edu 37 10 99410889 99410889 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:99410889C>T uc001kog.1 + 1 684 c.627C>T c.(625-627)ccC>ccT p.P209P PI4K2A_uc010qoy.1_Silent_p.P179P|PI4K2A_uc009xvw.1_5'UTR NM_018425 NP_060895 Q9BTU6 P4K2A_HUMAN Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA. 209 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) ACATTGTTCCCCGTACAAAGG 0.552000 21 6 0 0 0.000157383 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713883 30713883 + Missense_Mutation SNP G A A rs143095746 by1000genomes TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:30713883G>A uc003ceo.3 + 3 1590 c.1208G>A c.(1207-1209)cGt>cAt p.R403H TGFBR2_uc021wut.1_Missense_Mutation_p.R281H|TGFBR2_uc003cen.3_Missense_Mutation_p.R428H NM_003242 NP_003233 P37173 TGFR2_HUMAN Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA. 403 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CTTTCCCTGCGTCTGGACCCT 0.552000 114 82 0 0 0.000781405 0 0 CNTN5 53942 broad.mit.edu 37 11 100211269 100211269 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:100211269C>T uc001pga.3 + 21 3309 c.2805C>T c.(2803-2805)gtC>gtT p.V935V CNTN5_uc021qpb.1_Silent_p.V935V|CNTN5_uc021qpc.1_Silent_p.V861V|CNTN5_uc010ruk.2_Silent_p.V206V NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 935 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding p.F934F(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGTCTTTCGTCATCCTAACAG 0.433000 5 10 0 0 0.000673444 0 0 FBXL14 144699 broad.mit.edu 37 12 1675965 1675965 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:1675965C>T uc001qjh.3 - 1 1305 c.1206G>A c.(1204-1206)ggG>ggA p.G402G NM_152441 NP_689654 Q8N1E6 FXL14_HUMAN Homo sapiens F-box and leucine-rich repeat protein 14 (FBXL14), mRNA. 402 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 8 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) gagaaaaatcccctcgtgcct 0.532000 20 9 0 0 0.000442599 0 0 ARMCX5 64860 broad.mit.edu 37 X 101858400 101858400 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:101858400G>A uc022cbb.1 + 0 1331 c.1331G>A c.(1330-1332)gGa>gAa p.G444E ARMCX5_uc004ejg.3_Missense_Mutation_p.G444E|ARMCX5_uc022caw.1_Missense_Mutation_p.G444E|ARMCX5_uc022cax.1_Missense_Mutation_p.G444E|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.G444E|ARMCX5_uc022cba.1_Missense_Mutation_p.G444E|ARMCX5_uc004ejh.3_Missense_Mutation_p.G444E NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA. 444 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 TTAAACAAGGGAAGTGTCAAA 0.353000 67 31 0 0 0.000339439 0 0 NDST3 9348 broad.mit.edu 37 4 119145709 119145709 + Missense_Mutation SNP G C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:119145709G>C uc003ibx.3 + 6 2006 c.1603G>C c.(1603-1605)Gtt>Ctt p.V535L NDST3_uc011cgf.1_Missense_Mutation_p.V454L NM_004784 NP_004775 O95803 NDST3_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA. 535 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 ATATACATTTGTTAATCTGGC 0.413000 55 11 0 0 0.000673444 0 0 DST 667 broad.mit.edu 37 6 56499366 56499366 + Missense_Mutation SNP G A A rs141002593 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:56499366G>A uc003pcy.4 - 11 1885 c.1777C>T c.(1777-1779)Cgt>Tgt p.R593C DST_uc021zay.1_Missense_Mutation_p.R959C|DST_uc021zax.1_Missense_Mutation_p.R593C|DST_uc003pdc.4_Missense_Mutation_p.R593C|DST_uc003pdd.4_Missense_Mutation_p.R593C NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 919 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CATTTAGCACGATGAGAGTTA 0.423000 31 49 0 0 0.000781405 0 0 LILRB1 10859 broad.mit.edu 37 19 55143588 55143588 + Silent SNP G T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:55143588G>T uc002qgj.3 + 5 901 c.561G>T c.(559-561)gtG>gtT p.V187V LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.V187V|LILRB1_uc002qgk.3_Silent_p.V187V|LILRB1_uc002qgm.3_Silent_p.V187V|LILRB1_uc010erq.3_Silent_p.V187V|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 187 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.P186P(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TGGGCCCCGTGAGCCCGAGTC 0.587000 HNSCC(37;0.09) 49 21 1.10923e-09 9.34219e-09 0.000375601 1 0 SLC4A10 57282 broad.mit.edu 37 2 162738880 162738880 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:162738880C>T uc002ubx.4 + 9 1304 c.1120C>T c.(1120-1122)Ctt>Ttt p.L374F SLC4A10_uc010fpa.1_Missense_Mutation_p.L386F|SLC4A10_uc010zcr.1_Intron|SLC4A10_uc010zcs.2_Missense_Mutation_p.L355F|SLC4A10_uc002uby.4_Missense_Mutation_p.L344F NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 374 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTTGTTCATTCTTCTGGGACC 0.328000 10 9 0 0 0.000673444 0 0 MYLK 4638 broad.mit.edu 37 3 123452795 123452795 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:123452795C>T uc003ego.3 - 9 1330 c.1048G>A c.(1048-1050)Gca>Aca p.A350T MYLK_uc011bjw.2_Missense_Mutation_p.A350T|MYLK_uc003egp.3_Missense_Mutation_p.A350T|MYLK_uc003egq.3_Missense_Mutation_p.A350T|MYLK_uc003egr.3_Missense_Mutation_p.A350T|MYLK_uc003egs.3_Missense_Mutation_p.A174T NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 350 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.A350T(2)|p.A350P(2)|p.A350S(2) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGAACTCTTGCGGCCTGCAGG 0.632000 77 21 0 0 0.00047179 0 0 OR52E2 119678 broad.mit.edu 37 11 5080083 5080083 + Missense_Mutation SNP A T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:5080083A>T uc010qyw.2 - 0 775 c.775T>A c.(775-777)Tcc>Acc p.S259T NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA. 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GTCATAAAGGAAAAGAGGGCT 0.473000 50 23 0 0 0.000375601 0 0 SMARCD3 6604 broad.mit.edu 37 7 150939873 150939874 + Missense_Mutation DNP CC TT TT TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:150939873_150939874CC>TT uc003wjs.3 - 3 490_491 c.389_390GG>AA c.(388-390)agg>aAA p.R130K SMARCD3_uc003wjt.3_Missense_Mutation_p.R117K|SMARCD3_uc003wju.3_Missense_Mutation_p.R117K|SMARCD3_uc011kvh.1_Missense_Mutation_p.R130K|SMARCD3_uc010lqa.1_Missense_Mutation_p.R130K NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA. 130 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GATCCAGTTTCCTCTCAAATGC 0.579000 63 31 0 0 6.4e-05 0 0 ARHGAP19 84986 broad.mit.edu 37 10 99019293 99019293 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:99019293G>A uc001knb.3 - 4 752 c.706C>T c.(706-708)Cct>Tct p.P236S ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.P227S|ARHGAP19_uc009xvj.3_Missense_Mutation_p.P236S|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Missense_Mutation_p.P30S NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA. 236 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1) 13 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) TTAGGAGGAGGGAGAATGAGG 0.423000 48 30 0 0 0.00127121 0 0 TET1 80312 broad.mit.edu 37 10 70446152 70446152 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:70446152G>A uc001jok.4 + 10 5597 c.5092G>A c.(5092-5094)Gtt>Att p.V1698I NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 1698 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 CTCTTTGGGTGTTATTCCTCA 0.433000 57 34 0 0 0.00128727 0 0 LARP6 55323 broad.mit.edu 37 15 71125351 71125351 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:71125351G>A uc002ass.3 - 2 587 c.516C>T c.(514-516)ccC>ccT p.P172P NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA. 172 HTH La-type RNA-binding. RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex RNA binding|nucleotide binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 ACAGTGGGACGGGGGTGGTCC 0.547000 25 6 0 0 0.00116845 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17948366 17948366 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:17948366G>A uc001ban.3 + 10 1109 c.950G>A c.(949-951)cGg>cAg p.R317Q ARHGEF10L_uc009vpe.1_Missense_Mutation_p.R278Q|ARHGEF10L_uc001bao.3_Missense_Mutation_p.R278Q|ARHGEF10L_uc001bap.3_Missense_Mutation_p.R278Q|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.R75Q|ARHGEF10L_uc001baq.3_Missense_Mutation_p.R83Q|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.R95Q|ARHGEF10L_uc001bar.3_Missense_Mutation_p.R95Q NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA. 317 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CAGGTGGTCCGGAGGCATATC 0.587000 39 37 0 0 0.000781405 0 0 POLR3B 55703 broad.mit.edu 37 12 106890623 106890623 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:106890623G>A uc001tlp.3 + 24 3133 c.2911G>A c.(2911-2913)Gat>Aat p.D971N LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.D913N NM_018082 NP_001154180 Q9NW08 RPC2_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA. 971 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TAAAGTGAAGGATGTGTGTGA 0.522000 27 15 0 0 0.000566183 0 0 OR52R1 119695 broad.mit.edu 37 11 4824842 4824842 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:4824842G>A uc021qcs.1 - 0 769 c.769C>T c.(769-771)Cca>Tca p.P257S NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA. 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAAGGGCTGGGATATAAAGA 0.483000 47 26 0 0 0.000720815 0 0 XPO6 23214 broad.mit.edu 37 16 28112887 28112887 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:28112887G>A uc002dpa.1 - 22 3669 c.3168C>T c.(3166-3168)gtC>gtT p.V1056V XPO6_uc002dpb.1_Silent_p.V1042V|XPO6_uc010vcp.1_Silent_p.V1055V NM_015171 NP_055986 Q96QU8 XPO6_HUMAN Homo sapiens exportin 6 (XPO6), mRNA. 1056 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CATCAAAGTCGACTGAGGCCA 0.532000 18 15 0 0 0.000308642 0 0 IFNA7 3444 broad.mit.edu 37 9 21201733 21201733 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:21201733C>T uc003zop.1 - 0 472 c.432G>A c.(430-432)agG>agA p.R144R IFNA14_uc003zoo.1_Intron NM_021057 NP_066401 P01567 IFNA7_HUMAN Homo sapiens interferon, alpha 7 (IFNA7), mRNA. 144 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGAAGTATTTCCTCACAGCCA 0.448000 156 74 0 0 0.000781405 0 0 R3HDM1 23518 broad.mit.edu 37 2 136409326 136409326 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:136409326C>T uc002tuo.3 + 16 2017 c.1647C>T c.(1645-1647)agC>agT p.S549S R3HDM1_uc010fni.3_Silent_p.S548S|R3HDM1_uc002tup.3_Silent_p.S494S|R3HDM1_uc010zbh.2_Silent_p.S297S NM_015361 NP_056176 Q15032 R3HD1_HUMAN Homo sapiens R3H domain containing 1 (R3HDM1), mRNA. 549 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CTCAGTTTAGCCACATGAGTC 0.453000 102 60 0 0 0.000781405 0 0 TPH2 121278 broad.mit.edu 37 12 72335485 72335485 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:72335485G>A uc009zrw.1 + 1 368 c.227G>A c.(226-228)gGa>gAa p.G76E TPH2_uc001swy.2_5'UTR NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA. 76 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) GAAGTTGGTGGATTGGTAAAA 0.418000 54 21 0 0 0.000295444 0 0 ASXL3 80816 broad.mit.edu 37 18 31251810 31251810 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:31251810G>A uc010dmg.1 + 6 750 c.695G>A c.(694-696)cGa>cAa p.R232Q ASXL3_uc002kxq.2_5'UTR NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 232 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 CACTTAAAACGATTAAAAAAG 0.313000 24 9 0 0 0.000442599 0 0 PIK3R4 30849 broad.mit.edu 37 3 130398288 130398288 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:130398288G>A uc003enj.3 - 19 4529 c.3948C>T c.(3946-3948)acC>acT p.T1316T NM_014602 NP_055417 Q99570 PI3R4_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA. 1316 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 CCCTTCGAGGGGTGTCATCAC 0.483000 59 27 0 0 0.000491102 0 0 LRRC18 474354 broad.mit.edu 37 10 50121505 50121505 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:50121505C>T uc001jhd.3 - 0 776 c.696G>A c.(694-696)ccG>ccA p.P232P WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.P232P NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA. 232 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TGGTCTTTCTCGGTGTCGTCG 0.527000 70 35 0 0 0.00058488 0 0 ALAD 210 broad.mit.edu 37 9 116153860 116153860 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:116153860C>T uc011lxf.2 - 3 410 c.208G>A c.(208-210)Gaa>Aaa p.E70K ALAD_uc011lxe.2_Missense_Mutation_p.E53K|ALAD_uc004bhl.4_Missense_Mutation_p.E99K NM_000031 NP_000022 P13716 HEM2_HUMAN Homo sapiens aminolevulinate dehydratase (ALAD), mRNA. 70 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1) 9 Aminolevulinic acid(DB00855) AGGCCCTCTTCCACCAAGGGC 0.587000 27 13 0 0 0.00074312 0 0 CBX6 23466 broad.mit.edu 37 22 39263083 39263084 + Missense_Mutation DNP GG AA AA TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr22:39263083_39263084GG>AA uc003awl.3 - 4 432_433 c.369_370CC>TT c.(367-372)atccgc>atTTgc p.R124C NM_014292 NP_055107 O95503 CBX6_HUMAN Homo sapiens chromobox homolog 6 (CBX6), mRNA. 124 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) TGGCAGCGGCGGATGTCCTTCT 0.693000 6 5 0 0 6.4e-05 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6428212 6428212 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:6428212C>T uc001qnr.3 + 12 1610 c.1462C>T c.(1462-1464)Ctt>Ttt p.L488F PLEKHG6_uc010sew.2_Missense_Mutation_p.L488F|PLEKHG6_uc010sex.2_Missense_Mutation_p.L456F NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA. 488 PH. regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CAGCGCCCTCCTTGTGCACTG 0.587000 11 6 0 0 0.000274275 0 0 PCMTD2 55251 broad.mit.edu 37 20 62891515 62891515 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:62891515C>T uc002yil.4 + 1 397 c.197C>T c.(196-198)cCg>cTg p.P66L PCMTD2_uc002yim.4_Missense_Mutation_p.P66L NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA. 66 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CTCTCAGCCCCGTGCATCTAC 0.488000 49 31 0 0 0.000491102 0 0 ABI1 10006 broad.mit.edu 37 10 27052880 27052880 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:27052880G>A uc001isx.3 - 7 1054 c.830C>T c.(829-831)tCt>tTt p.S277F ABI1_uc001itb.3_Missense_Mutation_p.S294F|ABI1_uc001ite.3_Intron|ABI1_uc010qdh.2_Intron|ABI1_uc010qdi.2_Intron|ABI1_uc001itc.3_Intron|ABI1_uc001isy.3_Intron|ABI1_uc001itd.3_Intron|ABI1_uc010qdj.2_Intron|ABI1_uc001ita.3_Intron|ABI1_uc010qdk.2_Intron|ABI1_uc001isz.3_Intron|ABI1_uc010qdg.2_Intron NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA. 277 Pro-rich. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGGAGGGACAGAAATGTTTTC 0.423000 49 19 0 0 0.00121646 0 0 C4BPA 722 broad.mit.edu 37 1 207307851 207307851 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:207307851C>T uc001hfo.3 + 8 1381 c.1187C>T c.(1186-1188)tCa>tTa p.S396L NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 396 Sushi 6. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 GATGAGATTTCATTTTCATGT 0.423000 37 75 0 0 0.000781405 0 0 OR51B2 79345 broad.mit.edu 37 11 5344634 5344634 + Missense_Mutation SNP T G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:5344634T>G uc001mao.1 - 0 949 c.894A>C c.(892-894)caA>caC p.Q298H HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA. 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAATGCCATATTGTATTTGCT 0.373000 35 19 0 0 0.000375601 0 0 TRPV6 55503 broad.mit.edu 37 7 142583185 142583185 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:142583185C>T uc003wbx.2 - 0 306 c.77G>A c.(76-78)cGg>cAg p.R26Q NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 26 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CCAGGACTCCCGTCTCTGGAA 0.612000 48 43 0 0 0.000509022 0 0 CCDC28A 25901 broad.mit.edu 37 6 139113921 139113921 + Missense_Mutation SNP C G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:139113921C>G uc003qie.3 + 5 961 c.806C>G c.(805-807)cCa>cGa p.P269R NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA. 269 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) CAAGATGTTCCAAATACTTCT 0.338000 31 24 0 0 0.00106085 0 0 KCNB1 3745 broad.mit.edu 37 20 47990233 47990233 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:47990233G>A uc002xur.1 - 1 2030 c.1864C>T c.(1864-1866)Cca>Tca p.P622S KCNB1_uc002xus.1_Missense_Mutation_p.P622S NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 622 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCCACTTCTGGGGCTGTGCTG 0.587000 21 12 0 0 0.000978159 0 0 DQX1 165545 broad.mit.edu 37 2 74751370 74751370 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:74751370C>T uc010yrw.2 - 3 661 c.496G>A c.(496-498)Gtg>Atg p.V166M DQX1_uc002smc.3_5'Flank NM_133637 NP_598376 Q8TE96 DQX1_HUMAN Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA. 166 Helicase ATP-binding. nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 AGTACCAGCACGCCCCAGGCT 0.602000 38 33 0 0 0.000814825 0 0 MYO18B 84700 broad.mit.edu 37 22 26343678 26343678 + Splice_Site SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr22:26343678G>A uc003abz.1 + 36 5882 c.5632_splice c.e36-1 p.V1878_splice MYO18B_uc003aca.1_Splice_Site_p.V1759_splice|MYO18B_uc010guy.1_Splice_Site_p.V1760_splice|MYO18B_uc010guz.1_Splice_Site_p.V1758_splice|MYO18B_uc011aka.1_Splice_Site_p.V1032_splice|MYO18B_uc011akb.1_Splice_Site_p.V1391_splice NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1878 Tail. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCTCCCCCAGGTGGATGAGCA 0.567000 11 4 0 0 0.000602214 0 0 IL1RL1 9173 broad.mit.edu 37 2 102957281 102957281 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:102957281G>A uc002tbu.1 + 4 874 c.603G>A c.(601-603)acG>acA p.T201T IL1RL1_uc010ywa.2_Silent_p.T84T|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.T201T NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 201 innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GGTCCTTCACGGTCAAGGGTA 0.443000 25 6 0 0 0.000157383 0 0 ZBED1 9189 broad.mit.edu 37 X 2408217 2408217 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:2408217C>T uc022brx.1 - 0 544 c.544G>A c.(544-546)Gag>Aag p.E182K DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.E182K|ZBED1_uc004cqg.2_Missense_Mutation_p.E182K|ZBED1_uc022brw.1_Missense_Mutation_p.E182K NM_004729 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA. 182 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGGATCACCTCCCGGACGGCC 0.632000 83 30 0 0 0.000339439 0 0 DOCK3 1795 broad.mit.edu 37 3 51418834 51418834 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:51418834C>T uc011bds.2 + 52 5960 c.5937C>T c.(5935-5937)caC>caT p.H1979H NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 1979 cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGCCCTACCACCCCCGCCTGC 0.687000 7 7 0 0 0.000157383 0 0 DNAH8 1769 broad.mit.edu 37 6 38690646 38690646 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:38690646G>A uc021yzh.1 + 1 170 c.61G>A c.(61-63)Gaa>Aaa p.E21K DNAH8_uc003ooe.2_5'UTR 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 TCCCTCTACGGAAGAGGCTGC 0.602000 8 23 0 0 0.00047179 0 0 ERAP2 64167 broad.mit.edu 37 5 96253210 96253210 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:96253210G>A uc003kmq.3 + 18 3494 c.2784G>A c.(2782-2784)ctG>ctA p.L928L ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.L928L|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.L877L|ERAP2_uc003kmu.3_Non-coding_Transcript NM_022350 NP_071745 Q6P179 ERAP2_HUMAN Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA. 928 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GATCACATCTGGATATTTTTC 0.353000 61 37 0 0 0.000437636 0 0 CNTN5 53942 broad.mit.edu 37 11 100064354 100064354 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:100064354G>A uc001pga.3 + 14 2347 c.1843G>A c.(1843-1845)Gat>Aat p.D615N CNTN5_uc009ywv.2_Missense_Mutation_p.D615N|CNTN5_uc001pfz.3_Missense_Mutation_p.D615N|CNTN5_uc021qpb.1_Missense_Mutation_p.D615N|CNTN5_uc021qpc.1_Missense_Mutation_p.D541N|CNTN5_uc010ruk.2_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 615 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACAGCCTATTGATTTCGAGGA 0.368000 53 37 0 0 0.000680045 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208841904 208841904 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:208841904G>A uc002vcl.2 - 2 1507 c.1017C>T c.(1015-1017)ttC>ttT p.F339F PLEKHM3_uc002vcm.2_Silent_p.F339F NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA. 339 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTTTCTTCTGGAAACTATGAT 0.522000 69 19 0 0 0.00152264 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37490176 37490176 + Missense_Mutation SNP C A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:37490176C>A uc021ppc.1 + 30 2723 c.2624C>A c.(2623-2625)aCt>aAt p.T875N ANKRD30A_uc001iza.1_Missense_Mutation_p.T875N NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 931 nucleus DNA binding|sequence-specific DNA binding transcription factor activity 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 CTCCGTGAGACTGTTTCACAG 0.274000 82 21 5.26018e-13 4.46747e-12 0.00188189 1 0 ENPEP 2028 broad.mit.edu 37 4 111474533 111474533 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:111474533G>A uc003iab.4 + 17 2906 c.2564G>A c.(2563-2565)cGa>cAa p.R855Q NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 855 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding p.R855Q(2)|p.R855*(1) 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) ACAGTCATTCGATATATCTCA 0.393000 64 31 0 0 0.00178596 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136594218 136594218 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:136594218C>T uc003yuv.3 + 5 1103 c.709C>T c.(709-711)Cgg>Tgg p.R237W KHDRBS3_uc003yuw.3_Missense_Mutation_p.R237W|KHDRBS3_uc010mek.3_Non-coding_Transcript NM_006558 NP_006549 O75525 KHDR3_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA. 237 Interaction with SIAH1. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) GCCAGTGAGTCGGGGAAGAGG 0.602000 27 34 0 0 0.000339439 0 0 WIPF1 7456 broad.mit.edu 37 2 175446110 175446111 + Missense_Mutation DNP GG AA AA TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:175446110_175446111GG>AA uc002uiz.3 - 2 208_209 c.108_109CC>TT c.(106-111)ctcctt>ctTTtt p.L37F BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.L37F|WIPF1_uc010fqt.1_Missense_Mutation_p.L37F|WIPF1_uc002ujc.1_Missense_Mutation_p.L37F|WIPF1_uc002ujb.2_Missense_Mutation_p.L37F|WIPF1_uc010zep.1_Missense_Mutation_p.L37F NM_003387 NP_003378 O43516 WIPF1_HUMAN Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA. 37 WH2. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 ATATCAGAAAGGAGAGCATTTC 0.431000 90 38 0 0 6.4e-05 0 0 SLC35F3 148641 broad.mit.edu 37 1 234452365 234452365 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:234452365C>T uc001hvy.1 + 4 991 c.846C>T c.(844-846)ctC>ctT p.L282L SLC35F3_uc001hwa.1_Silent_p.L213L NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 213 transport integral to membrane p.L282I(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CCGCCATCCTCGCCATCGCTG 0.577000 111 243 0 0 0.000781405 0 0 USP9X 8239 broad.mit.edu 37 X 41055614 41055614 + Splice_Site SNP T G G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:41055614T>G uc004dfb.3 + 27 4719 c.4086_splice c.e27+2 p.G1362_splice USP9X_uc004dfc.3_Splice_Site_p.G1362_splice NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 1362 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GTTTTGGGGGTGAGACTTTTT 0.378000 66 44 0 0 0.000589545 0 0 C1orf173 127254 broad.mit.edu 37 1 75039077 75039077 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:75039077C>T uc001dgg.3 - 13 2536 c.2317G>A c.(2317-2319)Gaa>Aaa p.E773K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 773 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCCATTGCTTCTTTCTTCTCC 0.473000 39 41 0 0 0.000781405 0 0 TMEM182 130827 broad.mit.edu 37 2 103431399 103431399 + Missense_Mutation SNP T C C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:103431399T>C uc010fjb.3 + 4 849 c.662T>C c.(661-663)gTt>gCt p.V221A TMEM182_uc002tcc.4_Missense_Mutation_p.V178A|TMEM182_uc002tcd.4_Missense_Mutation_p.V125A|TMEM182_uc010ywe.2_Non-coding_Transcript NM_144632 NP_653233 Q6ZP80 TM182_HUMAN Homo sapiens transmembrane protein 182 (TMEM182), mRNA. 221 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 TTTCTGGTTGTTGGATGGCAT 0.373000 32 9 0 0 0.000978159 0 0 NEO1 4756 broad.mit.edu 37 15 73593717 73593717 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:73593717G>A uc002avm.4 + 27 4413 c.4221G>A c.(4219-4221)agG>agA p.R1407R NEO1_uc010ukx.2_Silent_p.R1396R|NEO1_uc010uky.2_Silent_p.R1354R|NEO1_uc002avn.4_Silent_p.R1400R|NEO1_uc010ukz.2_Silent_p.R820R NM_002499 NP_002490 Q92859 NEO1_HUMAN Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA. 1407 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CTCTAGGAAGGAGCCGGCCTC 0.567000 19 8 0 0 0.000673444 0 0 JUP 3728 broad.mit.edu 37 17 39928022 39928022 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:39928022C>T uc002hxq.2 - 1 362 c.85G>A c.(85-87)Ggc>Agc p.G29S JUP_uc010wfs.2_Missense_Mutation_p.G29S|JUP_uc002hxr.2_Missense_Mutation_p.G29S|JUP_uc002hxs.2_Missense_Mutation_p.G29S NM_021991 NP_068831 P14923 PLAK_HUMAN Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA. 29 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GTGTTGGCGCCCGAGTGGATA 0.597000 10 6 0 0 0.00116845 0 0 SLC2A14 144195 broad.mit.edu 37 12 7984358 7984358 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:7984358G>A uc010sgh.2 - 2 249 c.228C>T c.(226-228)atC>atT p.I76I SLC2A14_uc001qtk.3_Silent_p.I61I|SLC2A14_uc001qtl.3_Silent_p.I38I|SLC2A14_uc001qtm.3_Silent_p.I38I|SLC2A14_uc010sgg.2_Intron|SLC2A14_uc001qtn.3_Silent_p.I61I|SLC2A14_uc001qto.3_Intron NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 61 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity p.I61I(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) ATTCCTTTATGATCTGCAAAA 0.443000 OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 16 0 0 0.00121646 0 0 TRMT2B 79979 broad.mit.edu 37 X 100292915 100292915 + Silent SNP A T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:100292915A>T uc004egt.3 - 4 842 c.429T>A c.(427-429)atT>atA p.I143I TRMT2B_uc004egu.3_Silent_p.I24I|TRMT2B_uc004egr.3_Silent_p.I143I|TRMT2B_uc004egv.3_Intron|TRMT2B_uc004egq.3_Silent_p.I143I|TRMT2B_uc004egs.3_Silent_p.I143I NM_001167970 NP_079193 Q96GJ1 TRM2_HUMAN Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA. 143 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 CAGAGGGTATAATAGGATGGA 0.438000 155 122 0 0 0.000781405 0 0 DDB1 1642 broad.mit.edu 37 11 61083814 61083814 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:61083814G>A uc001nrc.4 - 11 1579 c.1353C>T c.(1351-1353)ttC>ttT p.F451F DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.F451F|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Silent_p.F451F NM_001923 NP_001914 Q16531 DDB1_HUMAN Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA. 451 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 GATCATCCACGAAACCCATCA 0.502000 Nucleotide excision repair (NER) 96 68 0 0 0.000781405 0 0 PTPN14 5784 broad.mit.edu 37 1 214551323 214551323 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:214551323G>A uc001hkk.2 - 13 3320 c.2667C>T c.(2665-2667)acC>acT p.T889T PTPN14_uc021piy.1_Silent_p.T653T|PTPN14_uc010pty.2_Silent_p.T790T NM_005401 NP_005392 Q15678 PTN14_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA. 889 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGGGAACCCGGGTGGCATCAA 0.562000 79 13 0 0 0.00185496 0 0 CYP27C1 339761 broad.mit.edu 37 2 127956997 127956997 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:127956997C>T uc002tod.2 - 3 638 c.507G>A c.(505-507)gaG>gaA p.E169E CYP27C1_uc021vnn.1_Silent_p.E169E NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA. 169 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) TGGCGTAGATCTCCTGCAGCG 0.577000 37 13 0 0 0.00136819 0 0 GRIN2B 2904 broad.mit.edu 37 12 13761575 13761575 + Missense_Mutation SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:13761575C>T uc001rbt.2 - 8 2151 c.1972G>A c.(1972-1974)Gaa>Aaa p.E658K NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 658 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCCACATATTCCTCTTGGATC 0.498000 26 9 0 0 0.000673444 0 0 CDH6 1004 broad.mit.edu 37 5 31299714 31299714 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:31299714G>A uc003jhe.2 + 4 1147 c.787G>A c.(787-789)Gac>Aac p.D263N CDH6_uc003jhd.2_Missense_Mutation_p.D263N NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 263 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.D263V(1)|p.N262N(1) 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 TGATGTCAACGACAACCCTCC 0.438000 27 20 0 0 0.000586117 0 0 QTRT1 81890 broad.mit.edu 37 19 10812143 10812143 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:10812143G>A uc002mpr.3 + 0 32 c.7G>A c.(7-9)Gga>Aga p.G3R NM_031209 NP_112486 Q9BXR0 TGT_HUMAN Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA. 3 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) CAAGATGGCGGGAGCAGCTAC 0.697000 10 4 0 0 0.00024832 0 0 MUC16 94025 broad.mit.edu 37 19 9063573 9063573 + Missense_Mutation SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:9063573G>A uc002mkp.3 - 2 24077 c.23873C>T c.(23872-23874)tCa>tTa p.S7958L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7960 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 GCTCATCCATGATACATCCTC 0.453000 40 20 0 0 0.000958276 0 0 FAAH2 158584 broad.mit.edu 37 X 57515239 57515239 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:57515239G>A uc004dvc.3 + 10 1622 c.1473G>A c.(1471-1473)ctG>ctA p.L491L NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA. 491 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CACTGGGACTGAATGCCAAAG 0.488000 HNSCC(52;0.14) 24 13 0 0 0.00136819 0 0 MPPED2 744 broad.mit.edu 37 11 30516965 30516965 + Silent SNP G A A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:30516965G>A uc001msr.3 - 2 535 c.414C>T c.(412-414)ttC>ttT p.F138F MPPED2_uc001msq.3_Silent_p.F138F|MPPED2_uc009yji.3_Silent_p.F12F NM_001584 NP_001575 Q15777 MPPD2_HUMAN Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA. 138 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 ACACAGAGGGGAAACGGTAGT 0.403000 41 18 0 0 0.00121646 0 0 CACNG3 10368 broad.mit.edu 37 16 24358083 24358083 + Silent SNP C T T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:24358083C>T uc002dmf.3 + 1 1442 c.240C>T c.(238-240)atC>atT p.I80I NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 80 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GCAAGAAAATCGATCACTTCC 0.582000 9 14 0 0 0.00152264 0 0 RGS12 6002 broad.mit.edu 37 4 3432408 3432408 + Frame_Shift_Del DEL C - - TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:3432408delC uc003ggw.3 + 16 4744 c.3840delC c.(3838-3840)agcfs p.S1280fs RGS12_uc003ggv.3_Frame_Shift_Del_p.S1280fs|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Frame_Shift_Del_p.S632fs|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Frame_Shift_Del_p.S622fs|RGS12_uc010icv.3_Frame_Shift_Del_p.S479fs NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 1280 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAGCCTCCAGCCCCCCTGGAC 0.741 --- 4 --- --- 2 --- OR13C8 138802 broad.mit.edu 37 9 107331747 107331747 + Frame_Shift_Del DEL A - - TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:107331747delA uc011lvo.2 + 0 299 c.299delA c.(298-300)caafs p.Q100fs NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TGTATGGTGCAAATGTTTATT 0.493 --- 105 --- --- 46 ---