Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut NYNRIN 57523 broad.mit.edu 37 14 24884335 24884335 + Missense_Mutation SNP A A C TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr14:24884335A>C ENST00000382554.3 + 9 3698 c.3380A>C c.(3379-3381)gAc>gCc p.D1127A NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1127 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CAGAAGCCTGACTGGCAGTGG 0.627000 5 31 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3228257 3228257 + Missense_Mutation SNP C C T rs143264543 byFrequency TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chrX:3228257C>T ENST00000217939.6 - 7 8141 c.7987G>A c.(7987-7989)Ggg>Agg p.G2663R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2663 Ig-like C2-type 11. extracellular region p.G2663R(4) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGCCCAGCCCCGGGAGGGGTG 0.592000 5 27 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31090194 31090194 + Missense_Mutation SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr16:31090194G>A ENST00000394979.2 + 1 2972 c.2549G>A c.(2548-2550)tGc>tAc p.C850Y ZNF646_ENST00000300850.5_Missense_Mutation_p.C850Y O15015 ZN646_HUMAN zinc finger protein 646 850 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 ATCTATCAGTGCTCCCTCTGC 0.632000 14 70 0 0 1 0 0 MARCH1 55016 broad.mit.edu 37 4 164534519 164534519 + Silent SNP A A G TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr4:164534519A>G ENST00000503008.1 - 5 1165 c.189T>C c.(187-189)gcT>gcC p.A63A MARCH1_ENST00000514618.1_Silent_p.A63A|MARCH1_ENST00000274056.7_Silent_p.A63A|MARCH1_ENST00000339875.5_Silent_p.A46A NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 63 Responsible for low stability (By similarity). antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GGCTCCTGGGAGCTGTCCCTG 0.413000 9 79 0 0 1 0 0 MPP3 4356 broad.mit.edu 37 17 41879198 41879198 + Silent SNP C C T TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr17:41879198C>T ENST00000398393.1 - 18 1964 c.1704G>A c.(1702-1704)cgG>cgA p.R568R MPP3_ENST00000398389.4_Silent_p.R543R Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 543 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) GCCCGTAATGCCGGTCTATGA 0.547000 4 91 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44588048 44588048 + Missense_Mutation SNP T T G TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr20:44588048T>G ENST00000322927.2 - 15 2145 c.2045A>C c.(2044-2046)tAc>tCc p.Y682S ZNF335_ENST00000426788.1_Missense_Mutation_p.Y527S NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 682 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GAAGTGGCAGTACTCACAGGC 0.617000 3 27 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 102029346 102029346 + Missense_Mutation SNP C C T TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr13:102029346C>T ENST00000251127.6 - 5 518 c.437G>A c.(436-438)cGg>cAg p.R146Q NALCN_ENST00000376200.5_Missense_Mutation_p.R146Q|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R146Q NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 146 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AATCAGTGGCCGTGGAATCCG 0.398000 12 51 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66067276 66067276 + Missense_Mutation SNP C C T TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr1:66067276C>T ENST00000349533.6 + 9 1381 c.1196C>T c.(1195-1197)aCc>aTc p.T399I LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.T399I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.T399I|LEPR_ENST00000371059.3_Missense_Mutation_p.T399I|LEPR_ENST00000371060.3_Missense_Mutation_p.T399I NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 399 Ig-like. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CTGAATGAAACCAAACCTCGA 0.363000 4 59 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77170874 77170874 + Missense_Mutation SNP C C A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr18:77170874C>A ENST00000253506.5 + 2 968 c.599C>A c.(598-600)cCc>cAc p.P200H NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.P187H|NFATC1_ENST00000542384.1_Missense_Mutation_p.P200H|NFATC1_ENST00000427363.2_Missense_Mutation_p.P200H|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P200H|NFATC1_ENST00000329101.4_Missense_Mutation_p.P187H|NFATC1_ENST00000592223.1_Missense_Mutation_p.P187H|NFATC1_ENST00000591814.1_Missense_Mutation_p.P200H|NFATC1_ENST00000586434.1_Missense_Mutation_p.P187H NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 200 Trans-activation domain A (TAD-A). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) TACGCGTCCCCCCAGACGTCG 0.687000 8 88 0.0477658 0.0477658 1 1 0 SLC35F3 148641 broad.mit.edu 37 1 234452357 234452357 + Missense_Mutation SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr1:234452357G>A ENST00000366618.3 + 5 983 c.838G>A c.(838-840)Gcc>Acc p.A280T SLC35F3_ENST00000366617.3_Missense_Mutation_p.A211T NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 211 transport integral to membrane p.A280T(2) 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) GATTGTGGCCGCCATCCTCGC 0.582000 15 403 0 0 1 0 0 PCDHAC2 0 broad.mit.edu 37 5 140346986 140346986 + Missense_Mutation SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr5:140346986G>A ENST00000289269.5 + 1 1167 c.635G>A c.(634-636)cGt>cAt p.R212H PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 212 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGCTGCGTAAGGGCCTA 0.617000 3 16 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12826131 12826131 + Missense_Mutation SNP C C T TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr19:12826131C>T ENST00000425528.1 - 8 931 c.574G>A c.(574-576)Gcc>Acc p.A192T TNPO2_ENST00000588216.1_Missense_Mutation_p.A192T|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000356861.5_Missense_Mutation_p.A192T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A192T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A192T|TNPO2_ENST00000592287.1_Missense_Mutation_p.A192T O14787 TNPO2_HUMAN transportin 2 192 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CAGGCGATGGCGTGGGACCTG 0.667000 3 29 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49428638 49428638 + Missense_Mutation SNP C C A rs35087111 TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr12:49428638C>A ENST00000301067.7 - 35 10311 c.10312G>T c.(10312-10314)Gtg>Ttg p.V3438L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.I3165fs*13(1) TGAGCCATCACTTTCTTGATG 0.512000 4 59 5.9392e-07 6.54835e-07 1 1 0 SYT9 143425 broad.mit.edu 37 11 7324413 7324413 + Nonsense_Mutation SNP G G T TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr11:7324413G>T ENST00000318881.6 + 2 526 c.289G>T c.(289-291)Gag>Tag p.E97* SYT9_ENST00000396716.2_Nonsense_Mutation_p.E65* NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 97 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CAACAACCAGGAGCCCCTTAA 0.547000 5 67 0.000602214 0.000631591 1 1 0 RPUSD1 113000 broad.mit.edu 37 16 836244 836244 + Silent SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr16:836244G>A ENST00000561734.1 - 5 888 c.645C>T c.(643-645)atC>atT p.I215I RPUSD1_ENST00000007264.2_Silent_p.I215I|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Silent_p.I86I Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing 1 215 pseudouridine synthesis pseudouridine synthase activity|RNA binding endometrium(3)|lung(2)|skin(2) 7 Hepatocellular(780;0.00335) TGTCCGTGGGGATGCGCAGGT 0.672000 11 72 0 0 1 0 0 PTPN5 84867 broad.mit.edu 37 11 18765711 18765711 + Missense_Mutation SNP C C T TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr11:18765711C>T ENST00000396170.1 - 4 1397 c.133G>A c.(133-135)Gag>Aag p.E45K PTPN5_ENST00000396167.2_Missense_Mutation_p.E45K|PTPN5_ENST00000358540.2_Missense_Mutation_p.E45K|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Missense_Mutation_p.E21K|PTPN5_ENST00000396171.4_Missense_Mutation_p.E45K NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 45 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 CCTTCAGCCTCGTCCAGTGCC 0.672000 12 99 0 0 1 0 0 MED11 400569 broad.mit.edu 37 17 4635145 4635145 + Missense_Mutation SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr17:4635145G>A ENST00000293777.5 + 2 216 c.160G>A c.(160-162)Gct>Act p.A54T MED11_ENST00000573708.1_Missense_Mutation_p.A54T|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.A54T NM_001001683.2 NP_001001683.1 Q9P086 MED11_HUMAN mediator complex subunit 11 54 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex protein binding lung(2)|ovary(2) 4 GGCCTTCACCGCTTCAGTGCA 0.627000 OREG0024104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 32 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99133362 99133362 + Missense_Mutation SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr10:99133362G>A ENST00000370992.4 - 17 2107 c.1996C>T c.(1996-1998)Cgc>Tgc p.R666C RRP12_ENST00000315563.6_Missense_Mutation_p.R566C|RRP12_ENST00000536831.1_Missense_Mutation_p.R384C|RRP12_ENST00000414986.1_Missense_Mutation_p.R605C NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 666 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) ATGAGGGTGCGCAGGGCCTGG 0.667000 3 29 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976472 38976472 + Missense_Mutation SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr19:38976472G>A ENST00000355481.4 + 34 5308 c.5177G>A c.(5176-5178)cGc>cAc p.R1726H RYR1_ENST00000360985.3_Missense_Mutation_p.R1726H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1726H NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1726 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGCCGCAGCCGCCGCTCCATG 0.647000 8 80 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139163880 139163880 + Missense_Mutation SNP G G C TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr8:139163880G>C ENST00000395297.1 - 13 3008 c.2838C>G c.(2836-2838)atC>atG p.I946M NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 946 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGTTCCTGTTGATGGCATCAG 0.502000 HNSCC(54;0.14) 15 150 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 29 0 0 1 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36936728 36936728 + Missense_Mutation SNP T T C TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr17:36936728T>C ENST00000269554.3 - 4 964 c.484A>G c.(484-486)Aac>Gac p.N162D PIP4K2B_ENST00000311500.6_5'UTR NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 162 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 TTTAAGATGTTGTGCATCTCC 0.577000 7 81 0 0 1 0 0 RFWD2 64326 broad.mit.edu 37 1 175996718 175996718 + Silent SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr1:175996718G>A ENST00000367669.3 - 15 2233 c.1719C>T c.(1717-1719)ttC>ttT p.F573F RFWD2_ENST00000308769.8_Silent_p.F549F NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 573 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CTGCACAGCCGAAAGCCAAAT 0.398000 6 54 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408070 29408070 + Missense_Mutation SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr6:29408070G>A ENST00000444197.2 + 1 988 c.278G>A c.(277-279)cGc>cAc p.R93H OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CACATCTCTCGCTCTGGATGT 0.587000 6 61 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115828942 115828942 + Missense_Mutation SNP C C A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr1:115828942C>A ENST00000369512.2 - 3 643 c.475G>T c.(475-477)Gtg>Ttg p.V159L RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 159 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TCTCCCAACACCATCACCTCC 0.537000 7 84 8.12818e-05 8.7378e-05 1 1 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 106 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408019 29408019 + Missense_Mutation SNP C C T TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr6:29408019C>T ENST00000444197.2 + 1 937 c.227C>T c.(226-228)aCg>aTg p.T76M OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 ACGTCTGTCACGGTCCCCCTG 0.577000 12 85 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553130 140553130 + Silent SNP C C T TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr5:140553130C>T ENST00000231137.3 + 1 888 c.714C>T c.(712-714)aaC>aaT p.N238N NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 238 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.N238N(3) 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) TAAATGACAACGCCCCTGATT 0.542000 7 69 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170236677 170236677 + Missense_Mutation SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr5:170236677G>A ENST00000518525.1 + 10 1402 c.938G>A c.(937-939)tGc>tAc p.C313Y GABRP_ENST00000265294.4_Missense_Mutation_p.C313Y|GABRP_ENST00000519598.1_Missense_Mutation_p.C313Y|GABRP_ENST00000519385.1_Intron O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 313 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTGGGGATCTGCTTTAGCTTT 0.502000 OREG0017032 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 90 0 0 1 0 0 LDLRAP1 26119 broad.mit.edu 37 1 25889581 25889581 + Missense_Mutation SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr1:25889581G>A ENST00000374338.4 + 6 672 c.553G>A c.(553-555)Gcc>Acc p.A185T LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 185 PID. amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) GAGGGACAAAGCCAGCCAAGA 0.617000 7 69 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72946198 72946198 + Missense_Mutation SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr11:72946198G>A ENST00000311131.2 + 3 1461 c.994G>A c.(994-996)Gct>Act p.A332T P2RY2_ENST00000393596.2_Missense_Mutation_p.A332T|P2RY2_ENST00000393597.2_Missense_Mutation_p.A332T NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 332 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) TGCCACCCCGGCTCGCCGCAG 0.637000 3 30 0 0 1 0 0 SPANXN5 494197 broad.mit.edu 37 X 52825634 52825634 + Missense_Mutation SNP G G A rs150967779 byFrequency TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chrX:52825634G>A ENST00000375511.3 - 2 865 c.113C>T c.(112-114)cCg>cTg p.P38L NM_001009616.2 NP_001009616.1 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 38 large_intestine(1)|lung(5)|skin(2) 8 Ovarian(276;0.236) TTTCAAACTCGGTTCGAGGAC 0.393000 11 46 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 92 0 0 1 0 0 EXT1 2131 broad.mit.edu 37 8 119122902 119122902 + Silent SNP G G C TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr8:119122902G>C ENST00000378204.2 - 1 1190 c.384C>G c.(382-384)gcC>gcG p.A128A NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 128 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GGTAACTTTCGGCGATTTTCT 0.512000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 5 82 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223176649 223176649 + Missense_Mutation SNP C C T rs148231227 by1000genomes TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr1:223176649C>T ENST00000284476.6 + 8 2074 c.1910C>T c.(1909-1911)gCg>gTg p.A637V NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 637 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity p.A637V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GGGGTTTATGCGGGGACAGCT 0.448000 4 195 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27669200 27669200 + Missense_Mutation SNP G G C TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr2:27669200G>C ENST00000260570.3 - 43 4785 c.4682C>G c.(4681-4683)tCt>tGt p.S1561C KRTCAP3_ENST00000543753.1_3'UTR NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1561 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) GAGTGAAACAGAAAGCCTGGC 0.507000 5 53 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11562088 11562088 + Missense_Mutation SNP G G A TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr1:11562088G>A ENST00000294484.6 + 2 1177 c.1039G>A c.(1039-1041)Gag>Aag p.E347K PTCHD2_ENST00000389575.3_Missense_Mutation_p.E347K NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 347 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TTTTCCCACCGAGAGGGGCGG 0.642000 5 25 0 0 1 0 0 hsa-mir-7162 0 broad.mit.edu 37 15 62538522 62538523 + RNA INS - - GA rs3055695 TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr15:62538522_62538523insGA ENST00000570077.1 - 0 693_694 GGGGGCTCCGGGTAGGGGTTCA 0.609 2 4 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175656 51175658 + In_Frame_Del DEL GCT GCT - rs13336129 byFrequency TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr16:51175656_51175658delGCT ENST00000440970.1 - 2 615_617 c.184_186delAGC c.(184-186)del p.S62del SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 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 transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S159G(1) 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) cgccgccgccgctgctgctgctg 0.631 7 50 --- --- --- --- CTB-180A7.3 0 broad.mit.edu 37 19 6350189 6350189 + RNA DEL A A - TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr19:6350189delA ENST00000595644.1 - 0 358 aggggaggggagggaagggtc 0.582 2 4 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 7 113 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 5 2 --- --- --- --- SRPK3 26576 broad.mit.edu 37 X 153049636 153049636 + Frame_Shift_Del DEL A A - TCGA-ZG-A9MC-01A-31D-A41K-08 TCGA-ZG-A9MC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f35d13e-3184-4b59-a41b-85912d6c2749 852a3a94-37d0-4e43-a01a-648fec2868c3 g.chrX:153049636delA ENST00000489426.1 + 16 3682 c.1316delA c.(1315-1317)cgfs p.Q439fs SRPK3_ENST00000370101.3_Frame_Shift_Del_p.Q372fs|SRPK3_ENST00000370104.1_Frame_Shift_Del_p.Q371fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.Q339fs|SRPK3_ENST00000370100.1_Frame_Shift_Del_p.Q297fs|SRPK3_ENST00000393786.3_Frame_Shift_Del_p.Q338fs Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 372 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TCGTCCAATCAGCGAGAGACC 0.662 8 31 --- --- --- ---