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 PCDH15 65217 broad.mit.edu 37 10 55944968 55944968 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:55944968G>T ENST00000373965.2 - 13 1781 c.1387C>A c.(1387-1389)Cag>Aag p.Q463K PCDH15_ENST00000361849.3_Missense_Mutation_p.Q456K|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q434K|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q456K|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000414778.1_Missense_Mutation_p.Q461K|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q463K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q434K|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q419K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.Q67K|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q456K NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 456 Cadherin 4. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATACCAGTCTGTGTGACGGTG 0.393000 HNSCC(58;0.16) 15 44 1.3612e-06 1.56834e-06 1 1 0 NRXN1 9378 broad.mit.edu 37 2 50723068 50723068 + Silent SNP G G T rs56402642 by1000genomes TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:50723068G>T ENST00000404971.1 - 16 4504 c.3165C>A c.(3163-3165)gcC>gcA p.A1055A NRXN1_ENST00000401669.2_Silent_p.A1015A|NRXN1_ENST00000401710.1_Silent_p.A24A|NRXN1_ENST00000405472.3_Silent_p.A1007A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.A1007A|NRXN1_ENST00000406859.3_Silent_p.A1015A|NRXN1_ENST00000406316.2_Silent_p.A1015A NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1015 Laminin G-like 5. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TCCTGGCTCCGGCGGTGATTT 0.473000 3 32 0.00024832 0.00026781 1 1 0 PPP1R26 9858 broad.mit.edu 37 9 138376829 138376829 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr9:138376829G>A ENST00000356818.2 + 4 1022 c.473G>A c.(472-474)gGt>gAt p.G158D PPP1R26_ENST00000401470.3_Missense_Mutation_p.G158D|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G158D|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G158D|PPP1R26_ENST00000605660.1_Missense_Mutation_p.G158D NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 158 nucleolus protein binding GCCCAGCCAGGTGCAGCCCAG 0.652000 29 51 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7645629 7645629 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr16:7645629G>C ENST00000340209.4 + 5 859 c.562G>C c.(562-564)Ggc>Cgc p.G188R RBFOX1_ENST00000553186.1_Missense_Mutation_p.G183R|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G226R|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G203R|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G203R|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G183R|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G203R|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G183R|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G200R|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G226R Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 183 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CGTGGTAGAGGGCCGTAAAAT 0.463000 12 105 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20601122 20601122 + Missense_Mutation SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr20:20601122C>G ENST00000202677.6 - 11 1528 c.1386G>C c.(1384-1386)gaG>gaC p.E462D NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 462 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TGCTATCAGTCTCGGAAAATC 0.383000 9 40 0 0 1 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812721 31812721 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr21:31812721T>C ENST00000334067.3 + 1 125 c.76T>C c.(76-78)Tat>Cat p.Y26H NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 26 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 AGTTTCCACTTATAATTTGTT 0.473000 10 42 0 0 1 0 0 DNAJC1 64215 broad.mit.edu 37 10 22055238 22055238 + Splice_Site SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:22055238C>A ENST00000376980.3 - 10 1389 c.1098_splice c.e10-1 p.V367_splice DNAJC1_ENST00000483085.1_5'UTR NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 367 SANT 1. negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) TTGGTTGTCACCTGTTTCAAA 0.383000 43 77 2.35958e-20 3.27867e-20 1 1 0 NLRP2 55655 broad.mit.edu 37 19 55493809 55493809 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:55493809G>A ENST00000543010.1 + 6 886 c.743G>A c.(742-744)aGg>aAg p.R248K NLRP2_ENST00000538819.1_Missense_Mutation_p.R224K|NLRP2_ENST00000263437.6_Missense_Mutation_p.R245K|NLRP2_ENST00000448584.2_Missense_Mutation_p.R248K|NLRP2_ENST00000427260.2_Missense_Mutation_p.R225K|NLRP2_ENST00000537859.1_Missense_Mutation_p.R226K|NLRP2_ENST00000339757.7_Missense_Mutation_p.R226K|NLRP2_ENST00000391721.4_Missense_Mutation_p.R224K NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 248 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CTCAGCTGCAGGGAGCTCAGC 0.557000 13 44 0 0 1 0 0 MSC 9242 broad.mit.edu 37 8 72756405 72756405 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:72756405C>T ENST00000325509.4 - 1 298 c.9G>A c.(7-9)acG>acA p.T3T RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 3 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) TCACCGAGCCCGTGGACATCC 0.711000 16 42 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155319221 155319221 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:155319221T>C ENST00000368346.3 - 19 8105 c.7466A>G c.(7465-7467)gAt>gGt p.D2489G ASH1L_ENST00000392403.3_Missense_Mutation_p.D2484G Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2489 Bromo. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATCTAGGGGATCAGAGATCTT 0.413000 22 36 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25959061 25959061 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr15:25959061C>A ENST00000356865.6 - 10 2215 c.2104G>T c.(2104-2106)Gca>Tca p.A702S NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 702 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TACACCAGTGCGGCCTCATCC 0.662000 16 49 2.23348e-06 2.54961e-06 1 1 0 MUC4 4585 broad.mit.edu 37 3 195505842 195505842 + Silent SNP T T G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:195505842T>G ENST00000463781.3 - 2 13068 c.12609A>C c.(12607-12609)acA>acC p.T4203T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4203T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 966 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGGCGTGACCTGTGGATGCTG 0.597000 3 10 0 0 1 0 0 CFC1 55997 broad.mit.edu 37 2 131356280 131356280 + Missense_Mutation SNP A A C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:131356280A>C ENST00000259216.4 - 3 444 c.182T>G c.(181-183)gTg>gGg p.V61G NM_032545.3 NP_115934.1 P0CG37 CFC1_HUMAN cripto, FRL-1, cryptic family 1 61 determination of left/right symmetry|gastrulation anchored to membrane|extracellular region|plasma membrane endometrium(1)|lung(4) 5 Colorectal(110;0.1) GCTCCCAGTCACCTCTCCGAA 0.617000 4 72 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531603 84531603 + RNA SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr9:84531603C>A ENST00000527857.1 + 0 1625 NR_026851.1 GCCATTCCTCCATGTTTGTAT 0.468000 30 23 9.78306e-22 1.37482e-21 1 1 0 ANO5 203859 broad.mit.edu 37 11 22257772 22257772 + Nonsense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:22257772G>T ENST00000324559.8 + 8 1029 c.712G>T c.(712-714)Gaa>Taa p.E238* NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 238 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTTTGGGATTGAAAGACTGCT 0.388000 10 46 3.86212e-05 4.21425e-05 1 1 0 KIAA1211L 343990 broad.mit.edu 37 2 99454586 99454586 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:99454586G>C ENST00000397899.2 - 3 566 c.235C>G c.(235-237)Ctg>Gtg p.L79V KIAA1211L_ENST00000462314.1_5'UTR NM_207362.2 NP_997245.2 KIAA1211-like p.L79L(1) ACTTACTCCAGCTCATCCTCG 0.517000 10 33 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20836999 20836999 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr14:20836999C>T ENST00000262715.5 - 54 7759 c.7719G>A c.(7717-7719)aaG>aaA p.K2573K TEP1_ENST00000556935.1_Silent_p.K2465K NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2573 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CATCTCTGTCCTTCGAAGCTG 0.527000 14 34 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113420613 113420613 + Nonsense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:113420613G>A ENST00000297405.5 - 34 5783 c.5539C>T c.(5539-5541)Cag>Tag p.Q1847* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q1807*|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q1743* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1847 CUB 10. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATTGTGATCTGATTACCTGAA 0.333000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 45 64 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55098523 55098523 + Silent SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:55098523G>T ENST00000251377.3 + 8 1435 c.1302G>T c.(1300-1302)acG>acT p.T434T LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.T434T|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Intron|LILRA2_ENST00000251376.3_Intron|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CAGACTCCACGACTAGTGAGT 0.567000 6 32 3.59834e-05 3.938e-05 1 1 0 ZNF572 137209 broad.mit.edu 37 8 125989609 125989609 + Nonsense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:125989609C>T ENST00000319286.5 + 3 1253 c.1099C>T c.(1099-1101)Cag>Tag p.Q367* NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AAGTTTGGGTCAGAACTGCAA 0.393000 HNSCC(60;0.17) 12 57 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228141120 228141120 + Missense_Mutation SNP T T G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:228141120T>G ENST00000396578.3 + 27 2109 c.1947T>G c.(1945-1947)agT>agG p.S649R AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 649 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GAGAGCTCAGTGTTTCAACAC 0.507000 5 33 0 0 1 0 0 NPY 4852 broad.mit.edu 37 7 24324966 24324966 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:24324966C>A ENST00000407573.1 + 3 397 c.107C>A c.(106-108)cCg>cAg p.P36Q NPY_ENST00000242152.2_Missense_Mutation_p.P36Q|NPY_ENST00000405982.1_Missense_Mutation_p.P36Q P01303 NPY_HUMAN neuropeptide Y 36 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 CCGGACAACCCGGGCGAGGAC 0.672000 14 39 4.36969e-10 5.45843e-10 1 1 0 VPS13B 157680 broad.mit.edu 37 8 100791000 100791000 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:100791000T>C ENST00000358544.2 + 42 7706 c.7595T>C c.(7594-7596)aTg>aCg p.M2532T VPS13B_ENST00000357162.2_Missense_Mutation_p.M2507T|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2532 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GAACCACACATGTATCTTCGA 0.418000 51 82 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233322576 233322576 + Splice_Site SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:233322576G>T ENST00000295463.3 + 7 932 c.856_splice c.e7+1 p.M285_splice NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 285 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCCATCTCATGGGTAATGACC 0.617000 50 125 9.52127e-25 1.35861e-24 1 1 0 PCDH7 5099 broad.mit.edu 37 4 30723480 30723480 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:30723480C>A ENST00000361762.2 + 1 1444 c.436C>A c.(436-438)Ccc>Acc p.P146T PCDH7_ENST00000543491.1_Missense_Mutation_p.P146T NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 146 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CTTCCCGTCGCCCGTGCTCAC 0.652000 3 9 1 1 1 1 0 VWA3B 200403 broad.mit.edu 37 2 98920175 98920175 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:98920175C>A ENST00000477737.1 + 26 3635 c.3431C>A c.(3430-3432)cCt>cAt p.P1144H VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1144 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GAATTTTGCCCTCGGAGTGCA 0.378000 3 29 0.115264 0.117159 1 1 0 TRAV17 28666 broad.mit.edu 37 14 22466319 22466319 + RNA SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr14:22466319C>T ENST00000390445.2 + 0 396 GATTAAGAGTCACGCTTGACA 0.443000 16 51 0 0 1 0 0 FAM135A 57579 broad.mit.edu 37 6 71236315 71236315 + Silent SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:71236315C>G ENST00000418814.2 + 15 4142 c.3528C>G c.(3526-3528)gcC>gcG p.A1176A FAM135A_ENST00000370479.3_Silent_p.A963A|FAM135A_ENST00000505769.1_Silent_p.A756A|FAM135A_ENST00000457062.2_Silent_p.A963A|FAM135A_ENST00000361499.3_Silent_p.A980A|FAM135A_ENST00000505868.1_Silent_p.A1176A NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 1176 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 AATTTGATGCCATTACAAAGC 0.398000 4 99 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90368415 90368415 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:90368415G>A ENST00000405460.2 + 86 18400 c.18304G>A c.(18304-18306)Gct>Act p.A6102T GPR98_ENST00000425867.2_Missense_Mutation_p.A1763T NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 6102 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAGGACAAATGCTGCAGGTTT 0.423000 30 97 0 0 1 0 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392797 22392797 + RNA SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr14:22392797C>T ENST00000390440.2 + 0 395 CTGGGGGACTCAGCAATGTAT 0.507000 43 100 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117351767 117351767 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:117351767C>T ENST00000160373.3 - 23 4907 c.4816G>A c.(4816-4818)Gtt>Att p.V1606I CFTR_ENST00000429014.1_Intron NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1606 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) ACTCTTGAAACACCCAACTCA 0.418000 23 46 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368485 145368485 + Missense_Mutation SNP A A T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:145368485A>T ENST00000342960.5 + 84 10498 c.10463A>T c.(10462-10464)cAg>cTg p.Q3488L NBPF10_ENST00000369338.1_Missense_Mutation_p.Q604L|NBPF10_ENST00000369339.2_Missense_Mutation_p.Q606L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3488 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAAGTCTTACAGGACTCACTG 0.458000 84 492 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34073029 34073029 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:34073029G>A ENST00000254466.6 - 6 1514 c.1487C>T c.(1486-1488)cCt>cTt p.P496L GAS2L2_ENST00000587565.1_Missense_Mutation_p.P480L NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 496 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCCTTGGACAGGGGTTGGAGA 0.637000 19 72 0 0 1 0 0 ZNF701 55762 broad.mit.edu 37 19 53086565 53086565 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:53086565T>A ENST00000540331.1 + 5 1676 c.1451T>A c.(1450-1452)gTt>gAt p.V484D CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.V484D|ZNF701_ENST00000391785.3_Missense_Mutation_p.V418D NM_001172655.1 NP_001166126.1 Q9NV72 ZN701_HUMAN zinc finger protein 701 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) TGTGGCAAGGTTTTTAATCAC 0.358000 18 34 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46312206 46312206 + Silent SNP A A T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:46312206A>T ENST00000510861.1 - 6 716 c.543T>A c.(541-543)ccT>ccA p.P181P GABRA2_ENST00000515082.1_Silent_p.P181P|GABRA2_ENST00000507069.1_Silent_p.P181P|GABRA2_ENST00000514090.1_Silent_p.P181P|GABRA2_ENST00000356504.1_Silent_p.P181P|GABRA2_ENST00000540012.1_Silent_p.P126P|GABRA2_ENST00000381620.4_Silent_p.P181P P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 181 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAAATTTCAGAGGACATGAAT 0.383000 5 51 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102453025 102453025 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr14:102453025G>A ENST00000360184.4 + 8 2627 c.2463G>A c.(2461-2463)gcG>gcA p.A821A NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 821 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AAGGCATTGCGTTGGTGTGGG 0.502000 16 103 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67645173 67645173 + Silent SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr16:67645173C>A ENST00000264010.4 + 3 882 c.438C>A c.(436-438)ggC>ggA p.G146G CTCF_ENST00000401394.1_Intron NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 146 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) CTAAAGAGGGCCTTGCGGAAA 0.483000 41 76 2.2871e-25 3.27611e-25 1 1 0 SYNPO2 171024 broad.mit.edu 37 4 119951432 119951432 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:119951432G>C ENST00000307142.4 + 4 1698 c.1502G>C c.(1501-1503)aGa>aCa p.R501T SYNPO2_ENST00000434046.2_Missense_Mutation_p.R501T|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R501T|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 501 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGGAGGGAGAGAATGGATCAG 0.517000 14 35 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57563202 57563202 + Splice_Site SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:57563202G>T ENST00000524630.1 + 5 933 c.e5+1 CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000399050.4_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000526772.1_Intron O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) AGAGACCACGGTAAACTAAGA 0.493000 3 13 0.115264 0.117159 1 1 0 PON2 5445 broad.mit.edu 37 7 95035502 95035502 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:95035502T>C ENST00000536183.1 - 8 1081 c.898A>G c.(898-900)Atc>Gtc p.I300V PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.I267V|PON2_ENST00000222572.3_Missense_Mutation_p.I279V NM_000305.2 NP_000296.2 Q15165 PON2_HUMAN paraoxonase 2 279 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) CCTACCCAGATGTCCCCCGAG 0.403000 20 104 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152443755 152443755 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:152443755C>T ENST00000367255.5 - 146 26811 c.26210G>A c.(26209-26211)gGc>gAc p.G8737D SYNE1_ENST00000356820.4_Missense_Mutation_p.G3261D|SYNE1_ENST00000347037.5_5'UTR|ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.G8689D|SYNE1_ENST00000265368.4_Missense_Mutation_p.G8737D|SYNE1_ENST00000539504.1_Missense_Mutation_p.G892D|SYNE1_ENST00000354674.4_Missense_Mutation_p.G915D|SYNE1_ENST00000341594.5_Missense_Mutation_p.G8349D|SYNE1_ENST00000423061.1_Missense_Mutation_p.G8689D NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8737 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAAGCCGCGGCCGGACCGACC 0.557000 HNSCC(10;0.0054) 43 68 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36677511 36677511 + Silent SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:36677511T>C ENST00000431169.1 - 5 696 c.396A>G c.(394-396)acA>acG p.T132T AOAH_ENST00000535891.1_Silent_p.T100T|AOAH_ENST00000258749.5_Silent_p.T132T NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 132 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TAAATTTCCATGTCTCCTATA 0.358000 5 34 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158390393 158390393 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:158390393C>A ENST00000314902.2 - 1 263 c.264G>T c.(262-264)caG>caT p.Q88H NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q88H(1) NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) TGGTCTTCTTCTGGGACAGCA 0.478000 26 127 6.36457e-07 7.40206e-07 1 1 0 RYR1 6261 broad.mit.edu 37 19 38973678 38973678 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:38973678C>T ENST00000355481.4 + 32 4763 c.4632C>T c.(4630-4632)aaC>aaT p.N1544N RYR1_ENST00000360985.3_Silent_p.N1544N|RYR1_ENST00000359596.3_Silent_p.N1544N NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1544 6 X approximate repeats.|B30.2/SPRY 3. 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) TGGAACCCAACACTAAGCTAT 0.567000 36 81 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19653540 19653540 + Splice_Site SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr21:19653540T>A ENST00000284885.3 - 22 2520 c.e22-2 NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 AAGTTTCTCCTGAAAATTGTA 0.378000 18 35 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14716842 14716842 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:14716842G>A ENST00000284268.6 - 9 1444 c.1114C>T c.(1114-1116)Cgg>Tgg p.R372W ANKH_ENST00000535119.1_Missense_Mutation_p.R174W NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 372 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GAGAAGATCCGCAAAGGAACA 0.408000 17 41 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35985814 35985814 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chrX:35985814T>A ENST00000297866.5 + 10 1745 c.1679T>A c.(1678-1680)gTa>gAa p.V560E NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 560 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TATGCACCTGTAGCAATGCTT 0.433000 13 16 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457728 110457728 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:110457728C>T ENST00000378402.5 + 38 5734 c.5630C>T c.(5629-5631)cCc>cTc p.P1877L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1877 IPT/TIG 11. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCCATCAACCCCAATGAAGTC 0.433000 HNSCC(38;0.096) 8 24 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66205191 66205191 + Nonsense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:66205191G>C ENST00000503581.1 - 4 650 c.113C>G c.(112-114)tCa>tGa p.S38* EYS_ENST00000370616.2_Nonsense_Mutation_p.S38*|EYS_ENST00000370618.3_Nonsense_Mutation_p.S38*|EYS_ENST00000393380.2_Nonsense_Mutation_p.S38*|EYS_ENST00000370621.3_Nonsense_Mutation_p.S38*|EYS_ENST00000342421.5_Nonsense_Mutation_p.S38* NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 38 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TACCACATATGATGAGGGTTG 0.393000 25 77 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94481338 94481338 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:94481338G>C ENST00000370225.3 - 37 5355 c.5269C>G c.(5269-5271)Cca>Gca p.P1757A ABCA4_ENST00000536513.1_Missense_Mutation_p.P27A NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1757 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) AGGTTTTCTGGAGAAGTGTAG 0.527000 12 15 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076224 57076224 + Nonsense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:57076224C>A ENST00000532437.1 - 5 4272 c.3961G>T c.(3961-3963)Gag>Tag p.E1321* TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E1321* Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1321 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CAGGTCACCTCCAAATCCCTC 0.607000 47 283 3.50607e-19 4.8176e-19 1 1 0 IGSF1 3547 broad.mit.edu 37 X 130419171 130419171 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chrX:130419171G>A ENST00000370904.1 - 11 1532 c.622C>T c.(622-624)Ctg>Ttg p.L208L IGSF1_ENST00000370910.1_Silent_p.L208L|IGSF1_ENST00000370900.1_Silent_p.L217L|IGSF1_ENST00000370901.4_Silent_p.L217L|IGSF1_ENST00000370903.3_Silent_p.L217L|IGSF1_ENST00000361420.3_Silent_p.L217L Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 217 Ig-like C2-type 2. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding p.L217L(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 ACCAGCTTCAGGGGGTTGCTG 0.537000 37 22 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135095776 135095776 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:135095776C>A ENST00000368563.2 - 16 2716 c.2360G>T c.(2359-2361)gGg>gTg p.G787V TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G815V|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.G787V|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.G380V|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G657V NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 787 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) TGCGGGCAGCCCCAGGACGGT 0.647000 9 20 3.09899e-07 3.64992e-07 1 1 0 KIAA1549 57670 broad.mit.edu 37 7 138545898 138545898 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:138545898T>C ENST00000440172.1 - 16 5282 c.5234A>G c.(5233-5235)aAc>aGc p.N1745S KIAA1549_ENST00000422774.1_Missense_Mutation_p.N1745S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.N1695S NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1745 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GCAGGGATTGTTGGCCGTCTG 0.587000 O BRAF pilocytic astrocytoma 13 41 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36215989 36215989 + Splice_Site SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:36215989G>A ENST00000420124.1 + 10 3528 c.e10+1 KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Splice_Site GGATTTTAAGGTATGGCATTG 0.567000 12 40 0 0 1 0 0 BTN2A1 11120 broad.mit.edu 37 6 26468369 26468369 + Silent SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:26468369G>T ENST00000312541.5 + 8 1424 c.1176G>T c.(1174-1176)gtG>gtT p.V392V BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Silent_p.V331V|BTN2A1_ENST00000429381.1_3'UTR NM_007049.3|NM_078476.2 NP_008980.1|NP_510961.1 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 392 B30.2/SPRY. lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 AGGTGGAGGTGGAAAACGTGA 0.552000 32 75 4.74835e-14 6.31412e-14 1 1 0 CNTN5 53942 broad.mit.edu 37 11 100126551 100126551 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:100126551C>T ENST00000524871.1 + 17 2355 c.2065C>T c.(2065-2067)Ctg>Ttg p.L689L CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.L689L|CNTN5_ENST00000528682.1_Silent_p.L689L|CNTN5_ENST00000279463.3_Silent_p.L689L|CNTN5_ENST00000418526.2_Silent_p.L615L NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 689 Fibronectin type-III 1. 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) TACGGCCACACTGTCCTGGAG 0.502000 10 94 0 0 1 0 0 TSPAN17 26262 broad.mit.edu 37 5 176083883 176083883 + Silent SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:176083883C>G ENST00000298564.10 + 4 638 c.489C>G c.(487-489)tcC>tcG p.S163S TSPAN17_ENST00000515708.1_Intron|TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000508164.1_Intron Q96FV3 TSN17_HUMAN tetraspanin 17 247 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCACCTGTCCTCTGTCTTAC 0.637000 16 55 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101716099 101716099 + Nonsense_Mutation SNP C C A rs146369620 TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:101716099C>A ENST00000342239.3 - 4 1223 c.1132G>T c.(1132-1134)Gag>Tag p.E378* DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Nonsense_Mutation_p.E378* Q6XZF7 DNMBP_HUMAN dynamin binding protein 378 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GCGGTGTCCTCGTCCTGATAA 0.552000 19 71 7.45023e-12 9.63078e-12 1 1 0 EP400 57634 broad.mit.edu 37 12 132445398 132445398 + Silent SNP C C T rs141965996 byFrequency TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr12:132445398C>T ENST00000333577.4 + 2 343 c.234C>T c.(232-234)agC>agT p.S78S EP400_ENST00000389562.2_Silent_p.S78S|EP400_ENST00000389561.2_Silent_p.S78S|EP400_ENST00000330386.6_Silent_p.S78S|EP400_ENST00000332482.4_Silent_p.S78S Q96L91 EP400_HUMAN E1A binding protein p400 78 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCCTGCAGAGCGTGGGCCCTG 0.632000 19 106 0 0 1 0 0 LYPD6 130574 broad.mit.edu 37 2 150305597 150305597 + Silent SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:150305597C>G ENST00000334166.4 + 3 410 c.153C>G c.(151-153)acC>acG p.T51T LYPD6_ENST00000409381.1_Silent_p.T51T NM_194317.3 NP_919298.1 Q86Y78 LYPD6_HUMAN LY6/PLAUR domain containing 6 51 UPAR/Ly6. extracellular region large_intestine(1)|lung(4) 5 BRCA - Breast invasive adenocarcinoma(221;0.0667) AATGTTTCACCTGTGAAAAGG 0.433000 4 20 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130297717 130297717 + Silent SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:130297717G>C ENST00000257359.6 - 1 1171 c.465C>G c.(463-465)ccC>ccG p.P155P NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 155 negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGGCTCCGGCGGGACCCCAGC 0.731000 3 3 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237850782 237850782 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:237850782C>T ENST00000366574.2 + 63 9362 c.9045C>T c.(9043-9045)gtC>gtT p.V3015V RYR2_ENST00000360064.6_Silent_p.V3013V|RYR2_ENST00000542537.1_Silent_p.V2999V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3015 Calmodulin-binding (Potential).|Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGTTCTTGTCAGGCATAGGA 0.408000 6 8 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227942649 227942649 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:227942649G>T ENST00000396625.3 - 25 2155 c.1948C>A c.(1948-1950)Cca>Aca p.P650T COL4A4_ENST00000329662.7_Missense_Mutation_p.P650T NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 650 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CTCACACCTGGGTGGCCTGGA 0.517000 5 34 0.014758 0.0151668 1 1 0 CYR61 3491 broad.mit.edu 37 1 86048138 86048138 + Missense_Mutation SNP A A C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:86048138A>C ENST00000451137.2 + 4 898 c.674A>C c.(673-675)cAa>cCa p.Q225P NM_001554.4 NP_001545.2 O00622 CYR61_HUMAN cysteine-rich, angiogenic inducer, 61 225 cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells extracellular region heparin binding|insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1) 5 all cancers(265;0.0216)|Epithelial(280;0.0441) AACCCTTTACAAGGCCAGAAA 0.463000 OREG0013583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 34 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176304651 176304651 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:176304651C>A ENST00000329542.4 + 10 1856 c.1582C>A c.(1582-1584)Cct>Act p.P528T UNC5A_ENST00000261961.3_Missense_Mutation_p.P488T NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 528 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAGCCCAGCCCTGACAGCTG 0.642000 10 23 0.000442599 0.000475955 1 1 0 ATP13A4 84239 broad.mit.edu 37 3 193188666 193188666 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:193188666C>T ENST00000342695.4 - 9 1247 c.925G>A c.(925-927)Gat>Aat p.D309N ATP13A4_ENST00000295548.3_Missense_Mutation_p.D309N|ATP13A4_ENST00000392443.3_Missense_Mutation_p.D309N NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 309 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ATGCCTTCATCCACCACACAG 0.532000 6 165 0 0 1 0 0 FBXW11 23291 broad.mit.edu 37 5 171327026 171327026 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:171327026C>T ENST00000296933.6 - 4 783 c.413G>A c.(412-414)tGt>tAt p.C138Y FBXW11_ENST00000425623.2_Missense_Mutation_p.C119Y|FBXW11_ENST00000265094.5_Missense_Mutation_p.C151Y|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.C117Y NM_033644.2|NM_033645.2 NP_387448.2|NP_387449.2 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 151 F-box. cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCATTCTTTACATACCAGCTC 0.448000 49 148 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55493831 55493831 + Silent SNP G G C rs151132029 byFrequency TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:55493831G>C ENST00000543010.1 + 6 908 c.765G>C c.(763-765)ccG>ccC p.P255P NLRP2_ENST00000538819.1_Silent_p.P231P|NLRP2_ENST00000263437.6_Silent_p.P252P|NLRP2_ENST00000448584.2_Silent_p.P255P|NLRP2_ENST00000427260.2_Silent_p.P232P|NLRP2_ENST00000537859.1_Silent_p.P233P|NLRP2_ENST00000339757.7_Silent_p.P233P|NLRP2_ENST00000391721.4_Silent_p.P231P NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 255 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GCCTGGGCCCGTGCAGTTTTG 0.527000 17 42 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59518528 59518528 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:59518528G>C ENST00000038176.3 - 12 1038 c.826C>G c.(826-828)Caa>Gaa p.Q276E NSMAF_ENST00000427130.2_Missense_Mutation_p.Q307E|NSMAF_ENST00000519858.1_5'UTR NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 276 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) TCTCTATCTTGAGGTTCATAG 0.333000 18 23 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 166 0 0 1 0 0 AKAP10 11216 broad.mit.edu 37 17 19844263 19844263 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:19844263G>A ENST00000225737.6 - 7 1279 c.1122C>T c.(1120-1122)acC>acT p.T374T AKAP10_ENST00000395536.3_Silent_p.T374T NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 374 blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) CAGTTCCACTGGTCAGCACTT 0.428000 15 29 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103925 53103925 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:53103925G>T ENST00000408890.4 + 1 577 c.561G>T c.(559-561)aaG>aaT p.K187N NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 187 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 AGTGCCCCAAGGGAAGCGCTA 0.711000 23 81 2.89027e-11 3.67222e-11 1 1 0 FCRL2 79368 broad.mit.edu 37 1 157739803 157739803 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:157739803G>T ENST00000361516.3 - 4 496 c.448C>A c.(448-450)Cag>Aag p.Q150K FCRL2_ENST00000392274.3_Missense_Mutation_p.Q150K|FCRL2_ENST00000368181.4_Intron NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 150 Ig-like C2-type 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCCAGGACCTGGTTTTCTCTG 0.567000 4 64 0.00909568 0.00947892 1 1 0 ALMS1 7840 broad.mit.edu 37 2 73675171 73675171 + Missense_Mutation SNP A A C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:73675171A>C ENST00000264448.6 + 8 1625 c.1514A>C c.(1513-1515)gAc>gCc p.D505A ALMS1_ENST00000377715.1_Missense_Mutation_p.D505A|ALMS1_ENST00000409009.1_Missense_Mutation_p.D463A NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 505 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GTTGATTCAGACATTGGATCT 0.413000 25 66 0 0 1 0 0 TWISTNB 221830 broad.mit.edu 37 7 19744535 19744535 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:19744535C>A ENST00000222567.5 - 2 333 c.263G>T c.(262-264)gGt>gTt p.G88V NM_001002926.1 NP_001002926.1 Q3B726 RPA43_HUMAN TWIST neighbor 88 microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 AATAGGGACACCTAAAAGGCT 0.348000 10 39 1.33987e-11 1.71411e-11 1 1 0 DGKG 1608 broad.mit.edu 37 3 186024695 186024695 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:186024695G>A ENST00000265022.3 - 3 678 c.139C>T c.(139-141)Cat>Tat p.H47Y DGKG_ENST00000344484.4_Missense_Mutation_p.H47Y|DGKG_ENST00000544847.1_Missense_Mutation_p.H47Y|DGKG_ENST00000382164.4_Missense_Mutation_p.H47Y NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 47 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CTTACCTCATGTGGGTCATAT 0.398000 31 35 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27421764 27421764 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:27421764G>A ENST00000527372.1 - 30 4794 c.4614C>T c.(4612-4614)gcC>gcT p.A1538A MYO18A_ENST00000533112.1_Silent_p.A1538A|MYO18A_ENST00000531253.1_Silent_p.A1538A|MYO18A_ENST00000354329.4_Silent_p.A1538A NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1538 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TCTTGACCTTGGCCAGAGAAG 0.537000 20 91 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95574010 95574010 + Missense_Mutation SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr14:95574010C>G ENST00000526495.1 - 19 3030 c.2739G>C c.(2737-2739)aaG>aaC p.K913N DICER1_ENST00000343455.3_Missense_Mutation_p.K913N|DICER1_ENST00000527414.1_Missense_Mutation_p.K913N|DICER1_ENST00000541352.1_Missense_Mutation_p.K913N|DICER1_ENST00000393063.1_Missense_Mutation_p.K913N Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 913 PAZ. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CTTTTGTATACTTTGTACTGG 0.348000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 24 52 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77764436 77764436 + Missense_Mutation SNP A A T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:77764436A>T ENST00000354212.4 - 17 3186 c.2933T>A c.(2932-2934)gTg>gAg p.V978E MAGI2_ENST00000522391.1_Missense_Mutation_p.V978E|MAGI2_ENST00000419488.1_Missense_Mutation_p.V964E NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 978 PDZ 5. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTGGCCATTCACTGCTAGGAT 0.502000 27 69 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47839824 47839824 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr20:47839824G>A ENST00000371764.4 + 4 422 c.413G>A c.(412-414)gGg>gAg p.G138E DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 138 Asp/Glu/Lys-rich. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCCAAGTCTGGGAAGTTGGAA 0.453000 20 41 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145742066 145742066 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:145742066C>A ENST00000428558.2 - 5 478 c.437G>T c.(436-438)gGg>gTg p.G146V RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 146 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GGGGACAGGCCCTGTACCTGG 0.642000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 14 29 0.146539 0.148541 1 1 0 ZBTB7A 51341 broad.mit.edu 37 19 4054047 4054047 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:4054047C>T ENST00000322357.4 - 2 1462 c.1184G>A c.(1183-1185)gGc>gAc p.G395D ZBTB7A_ENST00000601588.1_Missense_Mutation_p.G395D NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 395 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCAGCTTGCCGGCGCCCTG 0.657000 4 57 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798181 55798181 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:55798181G>C ENST00000313555.1 + 1 287 c.287G>C c.(286-288)gGg>gCg p.G96A NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TCTCCTTATGGGTGTGCACTA 0.448000 9 26 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17052278 17052278 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:17052278T>A ENST00000418129.2 + 2 1527 c.1062T>A c.(1060-1062)aaT>aaA p.N354K PLCL2_ENST00000432376.1_Missense_Mutation_p.N354K|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.N354K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 480 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GGCCGGACAATGAACCTGTAA 0.438000 16 37 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123615799 123615799 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chrX:123615799G>T ENST00000422452.2 - 22 3795 c.3732C>A c.(3730-3732)caC>caA p.H1244Q TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.H1237Q NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GATAGTATTTGTGAGCAGGAC 0.408000 9 32 2.74318e-10 3.43824e-10 1 1 0 OR6K2 81448 broad.mit.edu 37 1 158669774 158669774 + Silent SNP C C A rs144922102 TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:158669774C>A ENST00000359610.2 - 1 712 c.669G>T c.(667-669)gtG>gtT p.V223V NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) GAATTACAGCCACAATACCAT 0.463000 23 56 3.10358e-05 3.42687e-05 1 1 0 SCN2A 6326 broad.mit.edu 37 2 166229801 166229801 + Missense_Mutation SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:166229801A>G ENST00000375437.2 + 21 4206 c.3916A>G c.(3916-3918)Aga>Gga p.R1306G SCN2A_ENST00000375427.2_Missense_Mutation_p.R1306G|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1306G|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1306G NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1306 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) CAAATCCCTCAGAACACTAAG 0.413000 18 83 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176709482 176709482 + Missense_Mutation SNP A A C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:176709482A>C ENST00000439151.2 + 19 5954 c.5909A>C c.(5908-5910)gAg>gCg p.E1970A NSD1_ENST00000361032.4_Missense_Mutation_p.E1867A|NSD1_ENST00000347982.4_Missense_Mutation_p.E1701A|NSD1_ENST00000354179.4_Missense_Mutation_p.E1701A NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1970 SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TTTGTGAATGAGTATGTGGGT 0.343000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 29 123 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344017 248344017 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:248344017C>T ENST00000359682.2 + 1 730 c.730C>T c.(730-732)Cac>Tac p.H244Y NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTGTTCCTCTCACCTCATGGT 0.483000 36 136 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235951012 235951012 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:235951012G>T ENST00000409212.1 + 4 2106 c.1599G>T c.(1597-1599)agG>agT p.R533S SH3BP4_ENST00000344528.4_Missense_Mutation_p.R533S|SH3BP4_ENST00000392011.2_Missense_Mutation_p.R533S Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 533 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) TTTTGTCCAGGCCCCAGGATC 0.592000 30 73 1.7881e-09 2.21129e-09 1 1 0 NEGR1 257194 broad.mit.edu 37 1 72748143 72748143 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:72748143C>A ENST00000357731.4 - 1 274 c.35G>T c.(34-36)tGc>tTc p.C12F NEGR1_ENST00000434200.1_Missense_Mutation_p.C10F NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 12 cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) CTGGTTCGAGCAACAAGCACC 0.662000 14 47 2.62699e-14 3.5058e-14 1 1 0 GAK 2580 broad.mit.edu 37 4 887730 887730 + Missense_Mutation SNP C C A rs144664799 TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:887730C>A ENST00000314167.4 - 8 919 c.809G>T c.(808-810)cGa>cTa p.R270L GAK_ENST00000511163.1_Missense_Mutation_p.R191L NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 270 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) ATTGACTATTCGAAGTTTCGC 0.607000 11 32 6.40141e-05 6.94422e-05 1 1 0 IGSF9B 22997 broad.mit.edu 37 11 133801614 133801614 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:133801614G>T ENST00000321016.8 - 9 1417 c.1187C>A c.(1186-1188)aCc>aAc p.T396N IGSF9B_ENST00000533871.2_Missense_Mutation_p.T396N Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 396 Ig-like 4. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) AGGCACACAGGTATAAGTGCC 0.592000 11 18 3.07112e-06 3.48436e-06 1 1 0 ANK2 287 broad.mit.edu 37 4 114254292 114254292 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:114254292G>T ENST00000357077.4 + 29 3360 c.3307G>T c.(3307-3309)Gac>Tac p.D1103Y ANK2_ENST00000264366.6_Missense_Mutation_p.D1070Y|ANK2_ENST00000506722.1_Missense_Mutation_p.D1094Y|ANK2_ENST00000394537.3_Missense_Mutation_p.D1103Y|ANK2_ENST00000509550.1_Missense_Mutation_p.D279Y NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1070 Interaction with SPTBN1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGAGAATGGGGACAGCTGGAA 0.468000 27 64 4.59853e-10 5.72501e-10 1 1 0 RPLP0P6 220717 broad.mit.edu 37 2 38709170 38709170 + RNA SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:38709170A>G ENST00000417039.1 - 0 696 CAAGAACACCATGATGCGCAA 0.557000 11 77 0 0 1 0 0 FAM50B 26240 broad.mit.edu 37 6 3850791 3850791 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:3850791C>T ENST00000380274.1 + 1 1172 c.746C>T c.(745-747)aCc>aTc p.T249I FAM50B_ENST00000380272.3_Missense_Mutation_p.T249I Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 249 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) CACTACCACACCTTCTACGAC 0.642000 10 57 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 429979 429979 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:429979C>T ENST00000280886.6 - 16 1951 c.1864G>A c.(1864-1866)Ggc>Agc p.G622S DIP2C_ENST00000381496.3_Missense_Mutation_p.G515S NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 622 G -> S (in a colorectal cancer sample; somatic mutation). nucleus catalytic activity|transcription factor binding p.G622S(1) breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GGGTTCGCGCCGTCCGCCACT 0.527000 18 43 0 0 1 0 0 PHOSPHO1 162466 broad.mit.edu 37 17 47302047 47302047 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:47302047G>A ENST00000413580.1 - 3 857 c.440C>T c.(439-441)tCc>tTc p.S147F PHOSPHO1_ENST00000310544.4_Missense_Mutation_p.S122F|PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.S147F NM_001143804.1|NM_178500.3 NP_001137276.1|NP_848595.1 Q8TCT1 PHOP1_HUMAN phosphatase, orphan 1 122 regulation of bone mineralization metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) Choline(DB00122) GTTGGCATCGGAGATGAGAAT 0.647000 3 8 0 0 1 0 0 BLOC1S5-TXNDC5 100526836 broad.mit.edu 37 6 7883432 7883432 + Missense_Mutation SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:7883432C>G ENST00000539054.1 - 10 1027 c.1028G>C c.(1027-1029)aGa>aCa p.R343T TXNDC5_ENST00000379757.4_Missense_Mutation_p.R415T|TXNDC5_ENST00000473453.1_Missense_Mutation_p.R307T|BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.R307T GTCAAGGTCTCTGCCTCCACT 0.502000 6 71 0 0 1 0 0 MITF 4286 broad.mit.edu 37 3 69928280 69928280 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:69928280C>T ENST00000394355.2 + 1 25 c.25C>T c.(25-27)Cac>Tac p.H9Y MITF_ENST00000352241.4_Intron|MITF_ENST00000328528.6_Intron|MITF_ENST00000314589.5_Intron|MITF_ENST00000448226.2_Intron|MITF_ENST00000472437.1_Intron NM_198177.2 NP_937820.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 0 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) TTGGTTTTCCCACAGCAGTTC 0.488000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 18 24 0 0 1 0 0 LSM4 25804 broad.mit.edu 37 19 18420673 18420673 + Splice_Site SNP T T C rs112426584 TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:18420673T>C ENST00000593829.1 - 4 398 c.e4-2 LSM4_ENST00000252816.5_Splice_Site NM_001252129.1|NM_012321.4 NP_001239058.1|NP_036453.1 Q9Y4Z0 LSM4_HUMAN LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing cytosol|U6 snRNP protein binding|RNA binding endometrium(1)|large_intestine(2)|lung(3) 6 GTCCCCGTCCTGCGGAGAAGG 0.642000 6 25 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104831530 104831530 + Splice_Site SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:104831530G>C ENST00000369878.3 + 6 2291 c.e6-1 CNNM2_ENST00000457502.2_Splice_Site|CNNM2_ENST00000475511.1_Intron|CNNM2_ENST00000433628.2_Intron NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCATTTTTCAGTTCCTTTGTC 0.433000 31 86 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102453882 102453882 + Silent SNP A A T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:102453882A>T ENST00000393772.2 - 19 2457 c.2031T>A c.(2029-2031)ccT>ccA p.P677P FBXL13_ENST00000436908.1_Silent_p.P705P|FBXL13_ENST00000379306.3_Silent_p.P423P|FBXL13_ENST00000379305.3_Silent_p.P677P|FBXL13_ENST00000313221.4_Silent_p.P705P|FBXL13_ENST00000456695.1_Silent_p.P423P|FBXL13_ENST00000379308.3_Silent_p.P660P|FBXL13_ENST00000455112.2_Silent_p.P660P Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 705 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GCTCTGTAACAGGGTTTCCTT 0.433000 25 69 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142278180 142278180 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:142278180T>A ENST00000350721.4 - 7 1766 c.1645A>T c.(1645-1647)Agt>Tgt p.S549C ATR_ENST00000383101.3_Missense_Mutation_p.S485C NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 549 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.S549G(1) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TCTAACAAACTTCTACAGCTC 0.353000 Other conserved DNA damage response genes 24 37 0 0 1 0 0 CD70 970 broad.mit.edu 37 19 6586078 6586078 + Silent SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:6586078G>T ENST00000245903.3 - 3 684 c.535C>A c.(535-537)Cga>Aga p.R179R CD70_ENST00000423145.3_Intron NM_001252.3 NP_001243.1 P32970 CD70_HUMAN CD70 molecule 179 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1) 11 TCAGTGTTTCGGGAAGGCAAA 0.507000 5 26 0.014758 0.0151668 1 1 0 TCHH 7062 broad.mit.edu 37 1 152083180 152083180 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:152083180T>A ENST00000368804.1 - 2 2512 c.2513A>T c.(2512-2514)gAg>gTg p.E838V NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 838 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGAGCTGCTCCTCTTCCTC 0.677000 17 33 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672584 141672584 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:141672584G>A ENST00000547270.1 - 1 989 c.906C>T c.(904-906)gcC>gcT p.A302A NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 302 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TCCTCAACTTGGCATTGCCTG 0.532000 20 43 0 0 1 0 0 GSTK1 373156 broad.mit.edu 37 7 142962252 142962252 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:142962252G>A ENST00000479303.1 + 4 509 c.451G>A c.(451-453)Gtt>Att p.V151I GSTK1_ENST00000358406.5_Intron|GSTK1_ENST00000443571.2_Intron|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000409500.3_Intron NM_001143679.1 NP_001137151.1 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 138 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity lung(4) 4 Melanoma(164;0.059) Glutathione(DB00143) CCCCAGGCACGTTTTCAGGGT 0.622000 8 24 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 99019808 99019808 + Missense_Mutation SNP A A C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:99019808A>C ENST00000254898.5 + 10 1783 c.1552A>C c.(1552-1554)Agc>Cgc p.S518R MATN2_ENST00000524308.1_Missense_Mutation_p.S477R|MATN2_ENST00000521689.1_Missense_Mutation_p.S518R|MATN2_ENST00000520016.1_Missense_Mutation_p.S518R|MATN2_ENST00000522025.2_Missense_Mutation_p.S234R NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 518 EGF-like 7. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) CGTGCTCCGCAGCGATGGGAA 0.562000 43 76 0 0 1 0 0 YY1AP1 55249 broad.mit.edu 37 1 155630373 155630373 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:155630373G>A ENST00000368340.5 - 10 1790 c.1682C>T c.(1681-1683)cCg>cTg p.P561L YY1AP1_ENST00000359205.5_Missense_Mutation_p.P432L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P412L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P443L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P443L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P581L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P423L|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P489L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P289L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P443L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P412L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P432L NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CATTTTGCTCGGAGGGGCTTC 0.557000 31 79 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35969427 35969427 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chrX:35969427C>A ENST00000297866.5 + 5 902 c.836C>A c.(835-837)cCc>cAc p.P279H NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 279 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AGCCCAGAGCCCATAAATTGG 0.403000 7 7 2.7689e-08 3.31374e-08 1 1 0 BRCA2 675 broad.mit.edu 37 13 32910544 32910544 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr13:32910544G>A ENST00000544455.1 + 11 2279 c.2052G>A c.(2050-2052)caG>caA p.Q684Q BRCA2_ENST00000380152.3_Silent_p.Q684Q NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 684 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAATCTCTCAGGATCTTGATT 0.353000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 12 16 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169157461 169157461 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:169157461C>A ENST00000393743.3 - 33 4766 c.4475G>T c.(4474-4476)gGa>gTa p.G1492V NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1492 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) ATATCTTCTTCCAAAGAGATG 0.313000 6 22 0.00198382 0.00210285 1 1 0 SRSF5 6430 broad.mit.edu 37 14 70238159 70238159 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr14:70238159C>T ENST00000553521.1 + 9 2253 c.800C>T c.(799-801)tCa>tTa p.S267L SRSF5_ENST00000553635.1_Missense_Mutation_p.S264L|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Missense_Mutation_p.S267L|SRSF5_ENST00000557154.1_Missense_Mutation_p.S267L Q13243 SRSF5_HUMAN serine/arginine-rich splicing factor 5 267 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding large_intestine(1)|liver(1) 2 AGGTCCAGATCAGTTGACAGT 0.448000 75 186 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372683 175372683 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:175372683C>T ENST00000367674.1 - 4 1277 c.569G>A c.(568-570)tGc>tAc p.C190Y TNR_ENST00000263525.2_Missense_Mutation_p.C190Y NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 190 Cys-rich.|EGF-like 1. 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) GCCTTCGTTGCAGATGCAGCC 0.567000 18 127 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21108395 21108395 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:21108395C>T ENST00000377122.4 - 20 2409 c.2013G>A c.(2011-2013)ccG>ccA p.P671P NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 671 regulation of actin filament length actin binding|structural constituent of muscle p.P671P(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TCTCTATCTCCGGGGTCATGC 0.413000 88 141 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6305591 6305591 + Nonsense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:6305591G>T ENST00000264870.3 - 3 577 c.312C>A c.(310-312)taC>taA p.Y104* NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 104 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CACCAATGACGTATTCCACCC 0.488000 7 42 0.00307968 0.00324591 1 1 0 NSD1 64324 broad.mit.edu 37 5 176719160 176719160 + Splice_Site SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:176719160G>A ENST00000439151.2 + 22 6508 c.e22+1 NSD1_ENST00000361032.4_Splice_Site|NSD1_ENST00000347982.4_Splice_Site|NSD1_ENST00000354179.4_Splice_Site NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) CGACCAGCAGGTTGGTGCCAA 0.498000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 8 32 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193007777 193007777 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:193007777G>A ENST00000342358.4 - 26 3037 c.2920C>T c.(2920-2922)Ctg>Ttg p.L974L ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 974 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ATTGAAAGCAGTAAAGGGGGA 0.418000 38 36 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110791 55110791 + Nonsense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:55110791G>T ENST00000314721.2 + 1 165 c.115G>T c.(115-117)Gga>Tga p.G39* NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G39R(1) NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GACAATGGTGGGAAACCTCCT 0.418000 28 61 7.26314e-15 9.79864e-15 1 1 0 FTO 79068 broad.mit.edu 37 16 53967915 53967915 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr16:53967915G>A ENST00000471389.1 + 8 1480 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K FTO_ENST00000394647.3_Missense_Mutation_p.E124K|FTO_ENST00000460382.1_Missense_Mutation_p.E21K|FTO_ENST00000463855.1_Missense_Mutation_p.E42K|FTO_ENST00000431610.2_Missense_Mutation_p.E21K NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 420 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 TGTGCTTCATGAAGTTAAAAG 0.408000 9 36 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58189874 58189874 + Silent SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:58189874G>T ENST00000302581.2 - 1 912 c.861C>A c.(859-861)gtC>gtA p.V287V NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCAGGCTGTAGACCACAGGGT 0.423000 18 50 2.4624e-09 3.025e-09 1 1 0 BMPR1B 658 broad.mit.edu 37 4 96036835 96036835 + Splice_Site SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:96036835G>T ENST00000515059.1 + 6 529 c.e6-1 BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000502683.1_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site NM_001203.2 NP_001194.1 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) TTCGATTATAGGACACTCCCA 0.338000 15 42 1.15088e-07 1.35979e-07 1 1 0 STON2 85439 broad.mit.edu 37 14 81837512 81837512 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr14:81837512G>A ENST00000555447.1 - 5 803 c.391C>T c.(391-393)Ccc>Tcc p.P131S STON2_ENST00000267540.2_Missense_Mutation_p.P131S NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 131 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) GTCCAGCAGGGCATGGTCAAT 0.463000 8 104 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683440 6683440 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:6683440T>C ENST00000321535.4 + 2 383 c.253T>C c.(253-255)Ttt>Ctt p.F85L NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 85 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 TGTTAAGAAGTTTGGTCGTTA 0.498000 42 95 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92459807 92459807 + Silent SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:92459807C>A ENST00000370389.2 + 15 2988 c.2064C>A c.(2062-2064)ccC>ccA p.P688P BRDT_ENST00000362005.3_Silent_p.P761P|BRDT_ENST00000394530.3_Silent_p.P715P|BRDT_ENST00000399546.2_Silent_p.P761P|BRDT_ENST00000402388.1_Silent_p.P761P NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TTCTGCCTCCCTCAGGTAAGA 0.294000 5 27 0.000602214 0.000643866 1 1 0 AC226119.5 0 broad.mit.edu 37 4 3948570 3948570 + RNA SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:3948570G>T ENST00000281228.8 - 0 815 FAM86EP_ENST00000313946.8_RNA GGAGCCCGCTGGTGCTCCCGG 0.622000 5 79 8.12818e-05 8.79171e-05 1 1 0 LYPD6 130574 broad.mit.edu 37 2 150305596 150305596 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:150305596C>A ENST00000334166.4 + 3 409 c.152C>A c.(151-153)aCc>aAc p.T51N LYPD6_ENST00000409381.1_Missense_Mutation_p.T51N NM_194317.3 NP_919298.1 Q86Y78 LYPD6_HUMAN LY6/PLAUR domain containing 6 51 UPAR/Ly6. extracellular region large_intestine(1)|lung(4) 5 BRCA - Breast invasive adenocarcinoma(221;0.0667) AAATGTTTCACCTGTGAAAAG 0.433000 4 20 0.00909568 0.00947892 1 1 0 LTBP4 8425 broad.mit.edu 37 19 41131858 41131858 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:41131858G>C ENST00000308370.7 + 31 4127 c.4127G>C c.(4126-4128)tGc>tCc p.C1376S LTBP4_ENST00000545697.1_Missense_Mutation_p.C744S|LTBP4_ENST00000204005.9_Missense_Mutation_p.C1339S|LTBP4_ENST00000396819.3_Missense_Mutation_p.C1309S|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1377 TB 4. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGTGCTGCTGCCTGTATGGA 0.642000 6 16 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165792724 165792724 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:165792724C>T ENST00000366882.1 - 19 2068 c.1914G>A c.(1912-1914)atG>atA p.M638I PDE10A_ENST00000539869.2_Missense_Mutation_p.M648I|PDE10A_ENST00000354448.4_Missense_Mutation_p.M638I Q9Y233 PDE10_HUMAN phosphodiesterase 10A 638 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CGGTCTGGTACATCTCTTCCA 0.383000 9 59 0 0 1 0 0 EDA2R 60401 broad.mit.edu 37 X 65819587 65819587 + Silent SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chrX:65819587G>T ENST00000374719.3 - 6 689 c.633C>A c.(631-633)acC>acA p.T211T EDA2R_ENST00000450752.1_Silent_p.T232T|EDA2R_ENST00000456230.2_Silent_p.T211T|EDA2R_ENST00000253392.5_Silent_p.T232T|EDA2R_ENST00000396050.1_Silent_p.T211T|EDA2R_ENST00000451436.2_Silent_p.T87T NM_021783.3 NP_068555.1 Q9HAV5 TNR27_HUMAN ectodysplasin A2 receptor 211 cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 TAAGTGGCTGGGTCTGAAAGA 0.547000 10 1 0.0581538 0.0595996 1 1 0 OR2T33 391195 broad.mit.edu 37 1 248436359 248436359 + Missense_Mutation SNP G G T rs113574656 byFrequency TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:248436359G>T ENST00000318021.2 - 1 779 c.758C>A c.(757-759)gCc>gAc p.A253D NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A253V(1) NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGTAAAAATGGCAGCTCCATA 0.498000 15 64 2.35188e-11 2.99845e-11 1 1 0 NMUR1 10316 broad.mit.edu 37 2 232392963 232392963 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:232392963G>C ENST00000305141.4 - 2 902 c.769C>G c.(769-771)Cga>Gga p.R257G NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 257 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CGCCGCAGTCGCAGCCCAATG 0.642000 11 17 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153149891 153149891 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:153149891G>A ENST00000285900.5 + 13 2529 c.2186G>A c.(2185-2187)cGg>cAg p.R729Q GRIA1_ENST00000340592.5_Missense_Mutation_p.R729Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.R660Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R649Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R739Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.R739Q NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 729 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATTGAGCAGCGGAAACCCTGT 0.507000 19 48 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104898192 104898192 + Silent SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:104898192G>T ENST00000507740.1 + 2 1025 c.789G>T c.(787-789)cgG>cgT p.R263R RIMS2_ENST00000436393.2_Silent_p.R233R|RIMS2_ENST00000262231.10_Silent_p.R263R|RIMS2_ENST00000406091.3_Silent_p.R455R NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 486 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ACTCACTACGGAAACAGCACC 0.453000 HNSCC(12;0.0054) 18 90 5.03518e-11 6.37561e-11 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8633439 8633439 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr9:8633439C>A ENST00000381196.4 - 11 773 c.230G>T c.(229-231)gGg>gTg p.G77V PTPRD_ENST00000486161.1_Missense_Mutation_p.G77V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G77V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G77V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G77V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G77V|PTPRD_ENST00000463477.1_Missense_Mutation_p.G77V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G77V|PTPRD_ENST00000537002.1_Missense_Mutation_p.G77V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G77V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G77V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G77V NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 77 Ig-like C2-type 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGATCCAGACCCATCGTCAAA 0.428000 TSP Lung(15;0.13) 8 44 5.18039e-06 5.82402e-06 1 1 0 RIF1 55183 broad.mit.edu 37 2 152276866 152276866 + Silent SNP A A G rs148830532 TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:152276866A>G ENST00000243326.4 + 6 1149 c.666A>G c.(664-666)gcA>gcG p.A222A RIF1_ENST00000444746.2_Silent_p.A222A|RIF1_ENST00000430328.2_Silent_p.A222A|RIF1_ENST00000428287.2_Silent_p.A222A|RIF1_ENST00000433166.2_Silent_p.A222A|RIF1_ENST00000453091.2_Silent_p.A222A Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 222 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AAGAAATAGCATCTATTACGG 0.408000 7 30 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52344058 52344058 + Missense_Mutation SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:52344058C>G ENST00000354831.7 - 1 419 c.230G>C c.(229-231)cGg>cCg p.R77P NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Missense_Mutation_p.R77P NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 77 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ACGGGCAACCCGGCTGTTCTC 0.602000 12 38 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43015732 43015732 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:43015732G>T ENST00000161559.6 - 7 1559 c.1425C>A c.(1423-1425)aaC>aaA p.N475K CEACAM1_ENST00000403444.3_Intron|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000599389.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000488639.2_5'UTR|CEACAM1_ENST00000358394.3_Missense_Mutation_p.N410K|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000352591.5_Missense_Mutation_p.N379K|CEACAM1_ENST00000351134.3_Missense_Mutation_p.N201K|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 475 angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) ACTTACTGTGGTTGGAGACTG 0.507000 9 41 0.335167 0.3379 1 1 0 C20orf197 284756 broad.mit.edu 37 20 58645071 58645071 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr20:58645071C>A ENST00000313426.1 + 3 348 c.42C>A c.(40-42)gaC>gaA p.D14E NM_173644.1 NP_775915.1 Q8N268 CT197_HUMAN chromosome 20 open reading frame 197 14 large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) GGCAGGCAGACGGCTACGGGC 0.562000 28 58 1.06801e-11 1.37105e-11 1 1 0 NPY 4852 broad.mit.edu 37 7 24324980 24324980 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:24324980C>A ENST00000407573.1 + 3 411 c.121C>A c.(121-123)Cca>Aca p.P41T NPY_ENST00000242152.2_Missense_Mutation_p.P41T|NPY_ENST00000405982.1_Missense_Mutation_p.P41T P01303 NPY_HUMAN neuropeptide Y 41 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 CGAGGACGCACCAGCGGAGGA 0.687000 13 34 3.27435e-08 3.90606e-08 1 1 0 CCDC88C 440193 broad.mit.edu 37 14 91787538 91787538 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr14:91787538C>T ENST00000389857.6 - 13 1539 c.1453G>A c.(1453-1455)Gcg>Acg p.A485T NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 485 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) ACCAGGGACGCGTCCCGCAGC 0.612000 5 14 0 0 1 0 0 PIGB 9488 broad.mit.edu 37 15 55647509 55647509 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr15:55647509G>A ENST00000164305.5 + 12 1835 c.1544G>A c.(1543-1545)aGc>aAc p.S515N CCPG1_ENST00000442196.3_3'UTR|PIGB_ENST00000539642.1_Missense_Mutation_p.S320N|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000310958.6_3'UTR NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 515 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) CTAATTTCAAGCAATTATAAA 0.343000 11 29 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210265 100210265 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:100210265C>T ENST00000317233.4 - 14 2093 c.1858G>A c.(1858-1860)Gtc>Atc p.V620I AFF3_ENST00000409579.1_Missense_Mutation_p.V645I|AFF3_ENST00000356421.2_Missense_Mutation_p.V645I|AFF3_ENST00000409236.1_Missense_Mutation_p.V620I NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 620 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TCCGGGGGGACCACCACGCTC 0.741000 7 54 0 0 1 0 0 TRADD 8717 broad.mit.edu 37 16 67188853 67188853 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr16:67188853G>A ENST00000345057.4 - 5 1106 c.638C>T c.(637-639)cCg>cTg p.P213L TRADD_ENST00000486556.1_Missense_Mutation_p.P153L NM_003789.3 NP_003780.1 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 213 Death. activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) CAGGCTCAGCGGCCGATTCAC 0.711000 3 18 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50135408 50135408 + RNA SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chrX:50135408C>G ENST00000376025.2 - 0 1694 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CACCACAAACCAGAATGCGAA 0.453000 26 27 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94488898 94488898 + Silent SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr9:94488898G>T ENST00000375708.3 - 8 1509 c.1311C>A c.(1309-1311)tcC>tcA p.S437S ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.S297S NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 437 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCTGCGGTGTGGACGCAGATG 0.527000 45 42 1.03325e-14 1.38889e-14 1 1 0 UIMC1 51720 broad.mit.edu 37 5 176370346 176370346 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:176370346C>T ENST00000377219.2 - 10 1753 c.1587G>A c.(1585-1587)gaG>gaA p.E529E UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Silent_p.E363E|UIMC1_ENST00000511320.1_Silent_p.E529E|UIMC1_ENST00000377227.4_Silent_p.E529E NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 529 Zinc-finger-like region. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGTATCTTCCTCCATCAGAC 0.438000 61 166 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112676270 112676270 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:112676270C>T ENST00000408903.3 - 3 988 c.573G>A c.(571-573)caG>caA p.Q191Q CTD-2201G3.1_ENST00000416046.2_RNA NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 0 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TGTGCGGGGACTGTGTGAGCA 0.527000 12 33 0 0 1 0 0 MIR297 100126354 broad.mit.edu 37 4 111781783 111781783 + RNA SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:111781783G>A ENST00000401142.1 - 0 20 NR_030643.1 acacatacatgcacatgcaca 0.323000 13 32 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109701312 109701312 + Silent SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr9:109701312C>A ENST00000277225.5 + 7 6640 c.6351C>A c.(6349-6351)atC>atA p.I2117I ZNF462_ENST00000441147.2_Silent_p.I1023I|ZNF462_ENST00000542028.1_Silent_p.I74I|ZNF462_ENST00000457913.1_Silent_p.I2177I Q96JM2 ZN462_HUMAN zinc finger protein 462 2117 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GGCCACGGATCGTCAGTCTCC 0.547000 150 263 1.23367e-73 1.7809e-73 1 1 0 TNR 7143 broad.mit.edu 37 1 175365789 175365789 + Missense_Mutation SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:175365789C>G ENST00000367674.1 - 5 1839 c.1131G>C c.(1129-1131)tgG>tgC p.W377C TNR_ENST00000263525.2_Missense_Mutation_p.W377C NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 377 Fibronectin type-III 1. 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) TGACACCACTCCAATCTCCAG 0.597000 14 51 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185277 56185277 + Silent SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:56185277C>A ENST00000312253.1 - 1 431 c.432G>T c.(430-432)ctG>ctT p.L144L NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GAACTGCCACCAGTTGAATGC 0.453000 15 85 1.49906e-05 1.66015e-05 1 1 0 EYS 346007 broad.mit.edu 37 6 66115185 66115185 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:66115185C>A ENST00000503581.1 - 6 1475 c.938G>T c.(937-939)aGt>aTt p.S313I EYS_ENST00000370616.2_Missense_Mutation_p.S313I|EYS_ENST00000370618.3_Missense_Mutation_p.S313I|EYS_ENST00000393380.2_Missense_Mutation_p.S313I|EYS_ENST00000370621.3_Missense_Mutation_p.S313I|EYS_ENST00000342421.5_Missense_Mutation_p.S313I NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 313 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 ATAAGCAGAACTGCTATTTGG 0.383000 25 122 7.26314e-15 9.79864e-15 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23526527 23526527 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:23526527C>A ENST00000296682.3 + 11 1512 c.1330C>A c.(1330-1332)Cca>Aca p.P444T NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 444 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ATATCCAGATCCACACAGCCG 0.473000 HNSCC(3;0.000094) 14 53 0.00244969 0.00258928 1 1 0 NRSN1 140767 broad.mit.edu 37 6 24145808 24145808 + Silent SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:24145808C>A ENST00000378491.4 + 4 523 c.222C>A c.(220-222)atC>atA p.I74I NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 74 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle p.L75I(1)|p.I74I(1) breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 TTTTTGTGATCCTCGGATTGA 0.512000 17 67 5.35267e-07 6.26448e-07 1 1 0 WDR72 256764 broad.mit.edu 37 15 53889435 53889435 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr15:53889435C>A ENST00000396328.1 - 18 3228 c.2989G>T c.(2989-2991)Gtt>Ttt p.V997F WDR72_ENST00000360509.5_Missense_Mutation_p.V997F|WDR72_ENST00000557913.1_Missense_Mutation_p.V994F|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007F NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 997 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TGTTGTTGAACTTCCGCCAAG 0.383000 44 79 1.76056e-25 2.53165e-25 1 1 0 LRP2 4036 broad.mit.edu 37 2 170070338 170070338 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:170070338C>A ENST00000263816.3 - 36 6154 c.5869G>T c.(5869-5871)Gta>Tta p.V1957L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1957 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGCTGGTGTACCAGGATCATT 0.383000 11 43 4.68919e-08 5.57593e-08 1 1 0 NLGN3 54413 broad.mit.edu 37 X 70384131 70384131 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chrX:70384131T>C ENST00000374051.3 + 5 1128 c.806T>C c.(805-807)aTt>aCt p.I269T NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.I289T|NLGN3_ENST00000536169.1_Missense_Mutation_p.I249T NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 289 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) GGCTCGGGCATTGGTGCATCC 0.592000 12 15 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113276288 113276288 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr9:113276288T>C ENST00000401783.2 - 4 1399 c.1063A>G c.(1063-1065)Aca>Gca p.T355A SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 355 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCAGGGGATGTGCTTCCAGGT 0.507000 12 14 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74621485 74621485 + Silent SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:74621485C>G ENST00000354431.4 - 4 830 c.639G>C c.(637-639)ctG>ctC p.L213L LRRIQ3_ENST00000370909.2_Silent_p.L105L|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Silent_p.L213L NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 213 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AATTATGAGCCAGAATTGCAT 0.244000 4 34 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56019812 56019812 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:56019812G>T ENST00000303059.3 + 1 137 c.137G>T c.(136-138)gGc>gTc p.G46V NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) ATATTGACAGGCTTCACAGAT 0.373000 4 49 0.000602214 0.000643866 1 1 0 TMOD3 29766 broad.mit.edu 37 15 52188669 52188669 + Silent SNP A A T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr15:52188669A>T ENST00000308580.7 + 7 962 c.681A>T c.(679-681)acA>acT p.T227T TMOD3_ENST00000544199.1_Silent_p.T227T|RP11-56B16.5_ENST00000558142.1_RNA NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 227 cytoplasm|cytoskeleton actin binding|tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) AAACCAACACACATGTGAAAT 0.373000 14 89 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235951209 235951209 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:235951209C>A ENST00000409212.1 + 4 2303 c.1796C>A c.(1795-1797)gCc>gAc p.A599D SH3BP4_ENST00000344528.4_Missense_Mutation_p.A599D|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A599D Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 599 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) GACCAGGAGGCCATCCTCACC 0.582000 15 65 2.23348e-06 2.54961e-06 1 1 0 MAGI1 9223 broad.mit.edu 37 3 65342361 65342361 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:65342361G>A ENST00000402939.2 - 23 4080 c.4081C>T c.(4081-4083)Cgc>Tgc p.R1361C MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1390 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding p.R1361S(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TCTCTCCTGCGGGTGGGTGAC 0.697000 16 39 0 0 1 0 0 C4orf29 80167 broad.mit.edu 37 4 128938657 128938657 + Splice_Site SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:128938657G>A ENST00000388795.5 + 8 766 c.e8+1 C4orf29_ENST00000398965.1_Splice_Site|C4orf29_ENST00000444616.1_Splice_Site Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 extracellular region breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 GGGAGGACACGTAAGCCTTTT 0.378000 4 11 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263782 140263782 + Silent SNP G G C rs146010500 TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:140263782G>C ENST00000289272.2 + 1 1929 c.1929G>C c.(1927-1929)ccG>ccC p.P643P PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.P643P|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACGCGCCGCACCACCGCC 0.701000 32 86 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197111913 197111913 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:197111913C>A ENST00000367409.4 - 3 1725 c.1469G>T c.(1468-1470)cGt>cTt p.R490L ASPM_ENST00000294732.7_Missense_Mutation_p.R490L NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 490 mitosis cytoplasm|nucleus calmodulin binding p.R490H(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 AAGTATTGGACGTCTCTTAGG 0.338000 12 75 7.03913e-09 8.53437e-09 1 1 0 HIST1H1B 3009 broad.mit.edu 37 6 27835199 27835199 + Missense_Mutation SNP T T G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:27835199T>G ENST00000331442.3 - 1 160 c.109A>C c.(109-111)Aaa>Caa p.K37Q NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 37 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CCCGTCGCTTTGCGCTTAGCA 0.617000 26 76 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51917886 51917886 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:51917886T>A ENST00000371117.3 - 21 2403 c.2128A>T c.(2128-2130)Aca>Tca p.T710S PKHD1_ENST00000340994.4_Missense_Mutation_p.T710S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 710 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTTACGTTTGTGTCTGCAATA 0.478000 7 24 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44061064 44061064 + Silent SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:44061064C>G ENST00000344290.5 + 6 1216 c.894C>G c.(892-894)ccC>ccG p.P298P MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.P298P|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.P298P|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000571987.1_Silent_p.P298P|MAPT_ENST00000570299.1_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 298 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) AGGATGCCCCCCTGGAGTTCA 0.617000 10 64 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533822 55533822 + Missense_Mutation SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:55533822A>G ENST00000220676.1 + 2 444 c.296A>G c.(295-297)gAg>gGg p.E99G NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 99 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GAGGAGCTGGAGGACGGCGAG 0.657000 25 135 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76082941 76082941 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:76082941G>A ENST00000335749.4 + 13 4129 c.3560G>A c.(3559-3561)cGc>cAc p.R1187H TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1190H|TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1187H|TNRC6C_ENST00000588061.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1187H NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 1190 gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CAGGTTGCGCGCACAATCACT 0.592000 15 154 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433060 55433060 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:55433060T>A ENST00000314259.3 + 1 447 c.418T>A c.(418-420)Tgc>Agc p.C140S NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 ACGGGTGTGCTGCCTAATGGT 0.507000 11 83 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 33684485 33684485 + Missense_Mutation SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr14:33684485C>G ENST00000346562.2 + 2 222 c.148C>G c.(148-150)Ctt>Gtt p.L50V NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.L50V|NPAS3_ENST00000341321.4_Missense_Mutation_p.L80V|NPAS3_ENST00000356141.4_Missense_Mutation_p.L80V|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000548645.1_Missense_Mutation_p.L50V|NPAS3_ENST00000551492.1_Missense_Mutation_p.L87V NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GTTGTTGCCTCTTCCTGCAGC 0.488000 34 87 0 0 1 0 0 LOC728323 728323 broad.mit.edu 37 2 243056831 243056831 + RNA SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:243056831A>G ENST00000456398.1 + 0 352 AATAATGAAGAGCATGAATAT 0.264000 11 23 0 0 1 0 0 MACROD2 140733 broad.mit.edu 37 20 15866440 15866440 + Missense_Mutation SNP A A C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr20:15866440A>C ENST00000217246.4 + 10 1154 c.759A>C c.(757-759)gaA>gaC p.E253D MACROD2_ENST00000310348.4_Missense_Mutation_p.E253D|MACROD2_ENST00000378058.3_Missense_Mutation_p.E18D|MACROD2_ENST00000402914.1_Missense_Mutation_p.E18D NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 253 Glu-rich. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) AGGATGTTGAAATGAAAGAAG 0.299000 22 91 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55493823 55493823 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:55493823C>A ENST00000543010.1 + 6 900 c.757C>A c.(757-759)Ctg>Atg p.L253M NLRP2_ENST00000538819.1_Missense_Mutation_p.L229M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L250M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L253M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L230M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L231M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L231M|NLRP2_ENST00000391721.4_Missense_Mutation_p.L229M NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 253 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GCTCAGCCGCCTGGGCCCGTG 0.532000 16 43 1.3612e-06 1.56834e-06 1 1 0 UGT2A3 79799 broad.mit.edu 37 4 69795751 69795751 + Missense_Mutation SNP A A C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:69795751A>C ENST00000251566.4 - 6 1394 c.1364T>G c.(1363-1365)cTa>cGa p.L455R UGT2A3_ENST00000420231.2_Missense_Mutation_p.L166R NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 455 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGCTCGATCTAGGGGCTTTAC 0.453000 18 89 0 0 1 0 0 ACKR2 1238 broad.mit.edu 37 3 42906309 42906309 + Silent SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:42906309C>G ENST00000422265.1 + 3 490 c.315C>G c.(313-315)tcC>tcG p.S105S ACKR2_ENST00000273145.2_Silent_p.S105S|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Silent_p.S105S NM_001296.4 NP_001287.2 atypical chemokine receptor 2 GGGGCATCTCCGTGGCCTGGC 0.493000 38 79 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39918236 39918236 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr22:39918236C>A ENST00000337304.2 + 2 1567 c.685C>A c.(685-687)Ctg>Atg p.L229M ATF4_ENST00000396680.1_Missense_Mutation_p.L229M|ATF4_ENST00000404241.2_Missense_Mutation_p.L229M NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 229 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) AGAGTCCTATCTGGGGTCTCC 0.537000 3 16 0.014758 0.0151668 1 1 0 CNTN6 27255 broad.mit.edu 37 3 1425006 1425006 + Missense_Mutation SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:1425006C>G ENST00000446702.2 + 19 3058 c.2431C>G c.(2431-2433)Ctc>Gtc p.L811V CNTN6_ENST00000350110.2_Missense_Mutation_p.L811V|CNTN6_ENST00000539053.1_Missense_Mutation_p.L739V Q9UQ52 CNTN6_HUMAN contactin 6 811 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GGGAACTTCTCTCCAGAGTTT 0.433000 66 98 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73181646 73181646 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:73181646G>T ENST00000286657.4 - 11 1564 c.1528C>A c.(1528-1530)Cct>Act p.P510T NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 510 Disintegrin. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGATTATCAGGATGGCTACAC 0.398000 12 35 7.03913e-09 8.53437e-09 1 1 0 ZBTB8A 653121 broad.mit.edu 37 1 33059310 33059310 + Missense_Mutation SNP T T A rs148974909 TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:33059310T>A ENST00000373510.4 + 3 1007 c.778T>A c.(778-780)Tat>Aat p.Y260N ZBTB8A_ENST00000316459.4_Missense_Mutation_p.Y260N|RP1-27O5.3_ENST00000480336.1_3'UTR NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TCCTGTTGGCTATCAGTACGG 0.438000 12 31 0 0 1 0 0 RUFY2 55680 broad.mit.edu 37 10 70164458 70164458 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:70164458T>A ENST00000388768.2 - 2 579 c.253A>T c.(253-255)Atg>Ttg p.M85L RUFY2_ENST00000602465.1_Missense_Mutation_p.M50L|RUFY2_ENST00000342616.4_Missense_Mutation_p.M50L|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Missense_Mutation_p.M50L NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 99 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 CAATGTTCCATAACAACAAAG 0.388000 14 47 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39156169 39156169 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:39156169G>T ENST00000301819.6 + 6 829 c.652G>T c.(652-654)Gtc>Ttc p.V218F TTC21A_ENST00000440121.1_Missense_Mutation_p.V177F|TTC21A_ENST00000431162.2_Missense_Mutation_p.V218F NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 218 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GCCAGCCCTCGTCCTGAAGAT 0.547000 7 101 0.00198382 0.00210285 1 1 0 RPL39L 116832 broad.mit.edu 37 3 186839064 186839064 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:186839064T>A ENST00000296277.4 - 3 427 c.25A>T c.(25-27)Att>Ttt p.I9F RPL39L_ENST00000455270.1_Missense_Mutation_p.I9F|RPL39L_ENST00000433055.1_Missense_Mutation_p.I9F NM_052969.1 NP_443201.1 Q96EH5 RL39L_HUMAN ribosomal protein L39-like 9 spermatogenesis|translation cytosolic large ribosomal subunit structural constituent of ribosome all_cancers(143;2.61e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.87e-18) GBM - Glioblastoma multiforme(93;0.0745) AATCGCTTAATGGTGAAAGTC 0.453000 31 146 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227983388 227983388 + Silent SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:227983388T>C ENST00000396625.3 - 7 669 c.462A>G c.(460-462)agA>agG p.R154R COL4A4_ENST00000329662.7_Silent_p.R154R NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 154 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CAAGAGCTCCTCTTCCTCCTG 0.552000 19 69 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676123 11676123 + Missense_Mutation SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:11676123C>G ENST00000423059.3 - 2 907 c.656G>C c.(655-657)cGt>cCt p.R219P NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 219 TSP type-1 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CACCACATGACGCGTCCGGTG 0.617000 HNSCC(18;0.044) 9 34 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55681847 55681847 + Missense_Mutation SNP A A C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:55681847A>C ENST00000344514.1 - 1 211 c.212T>G c.(211-213)cTc>cGc p.L71R NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGAATAGCAGAGATCACAGAA 0.408000 22 38 0 0 1 0 0 PREP 5550 broad.mit.edu 37 6 105845800 105845800 + Silent SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:105845800T>C ENST00000369110.3 - 2 240 c.48A>G c.(46-48)gtA>gtG p.V16V NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase 16 V -> I (in Ref. 2; BAA04661). proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) GATAATCCTGTACCTGTAAAA 0.348000 5 47 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215822045 215822045 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:215822045T>C ENST00000366943.2 - 66 14793 c.14407A>G c.(14407-14409)Att>Gtt p.I4803V USH2A_ENST00000307340.3_Missense_Mutation_p.I4803V O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4803 Fibronectin type-III 33. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCTACTCCAATAGAGTAGTTA 0.542000 HNSCC(13;0.011) 8 48 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177632758 177632758 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:177632758G>T ENST00000280193.2 - 4 1014 c.599C>A c.(598-600)aCa>aAa p.T200K VEGFC_ENST00000507638.1_5'UTR NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 200 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) AAAACTGATTGTTACTGGTTT 0.388000 26 83 1.17739e-12 1.54351e-12 1 1 0 ITGA8 8516 broad.mit.edu 37 10 15655689 15655689 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:15655689T>A ENST00000378076.3 - 15 1876 c.1523A>T c.(1522-1524)cAg>cTg p.Q508L NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 508 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GTCTGGAACCTGGCAAGTTTT 0.458000 41 173 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12337019 12337019 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr12:12337019C>A ENST00000261349.4 - 5 947 c.871G>T c.(871-873)Ggg>Tgg p.G291W LRP6_ENST00000543091.1_Missense_Mutation_p.G291W NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 291 EGF-like 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GAACAACCCCCATTGTCAATT 0.393000 18 42 2.4624e-09 3.025e-09 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113349855 113349855 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:113349855C>T ENST00000297405.5 - 43 7002 c.6758G>A c.(6757-6759)gGa>gAa p.G2253E CSMD3_ENST00000343508.3_Missense_Mutation_p.G2213E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2183E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2149E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2253 Sushi 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAATGTGTATCCTGGGAAACA 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 81 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24199226 24199226 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:24199226G>C ENST00000265769.4 + 16 1896 c.1786G>C c.(1786-1788)Gaa>Caa p.E596Q RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.E343Q|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 596 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CACAAGTCAAGAAATAGGCAT 0.408000 27 102 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42353199 42353199 + Splice_Site SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:42353199C>A ENST00000269945.3 + 6 681 c.628_splice c.e6-1 p.G210_splice DMRTC2_ENST00000596827.1_Splice_Site_p.G210_splice NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 210 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 TCTTATTAGGCTTTGACCCTG 0.532000 36 113 7.53189e-24 1.06248e-23 1 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110477163 110477163 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:110477163G>A ENST00000378402.5 + 49 8206 c.8102G>A c.(8101-8103)gGa>gAa p.G2701E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2701 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAAACCAATGGAGCGGTGATT 0.453000 HNSCC(38;0.096) 52 96 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158139994 158139994 + Silent SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:158139994T>C ENST00000313708.6 - 13 1635 c.1353A>G c.(1351-1353)tcA>tcG p.S451S EBF1_ENST00000380654.4_Silent_p.S420S|EBF1_ENST00000517373.1_Silent_p.S443S|EBF1_ENST00000518836.1_5'UTR NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 451 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGTGGCTTGTGATGCCTCGG 0.502000 T HMGA2 lipoma 20 70 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43523066 43523066 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:43523066T>C ENST00000401740.1 - 3 668 c.565A>G c.(565-567)Atg>Gtg p.M189V PSG11_ENST00000320078.7_Missense_Mutation_p.M189V|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.M67V|PSG11_ENST00000403486.1_Missense_Mutation_p.M67V Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 189 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) CTATGAGTCATAGGGAGGCTC 0.483000 140 370 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936857 4936857 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:4936857C>T ENST00000322013.3 - 1 65 c.37G>A c.(37-39)Gtt>Att p.V13I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GTAGCAGAAACGCTGCTGCTG 0.557000 49 44 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72975701 72975701 + Missense_Mutation SNP A A T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:72975701A>T ENST00000262209.4 - 5 865 c.658T>A c.(658-660)Ttt>Att p.F220I NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 220 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AACTCACCAAACCTTAGTATT 0.323000 6 41 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55063090 55063090 + RNA SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:55063090T>A ENST00000526016.1 - 0 547 NR_038174.2 CAAATGTTGTTGTTTTTCTTC 0.403000 8 44 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242072400 242072400 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:242072400C>A ENST00000403638.3 - 9 1443 c.1352G>T c.(1351-1353)cGa>cTa p.R451L PASK_ENST00000358649.4_Missense_Mutation_p.R451L|PASK_ENST00000539818.1_Missense_Mutation_p.R235L|PASK_ENST00000234040.4_Missense_Mutation_p.R451L|PASK_ENST00000405260.1_Missense_Mutation_p.R451L|PASK_ENST00000544142.1_Missense_Mutation_p.R265L NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 451 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity p.R451L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GATCTCATCTCGGGGCACAAC 0.537000 22 71 5.26018e-13 6.92031e-13 1 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106680815 106680815 + Silent SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:106680815G>T ENST00000526355.1 - 5 2064 c.1596C>A c.(1594-1596)gcC>gcA p.A532A GUCY1A2_ENST00000347596.2_Silent_p.A553A|GUCY1A2_ENST00000282249.2_Silent_p.A532A NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 532 Guanylate cyclase. intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GGGCACATATGGCTGTGAAGC 0.443000 8 49 5.18039e-06 5.82402e-06 1 1 0 OR4Q3 441669 broad.mit.edu 37 14 20216002 20216002 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr14:20216002C>A ENST00000331723.1 + 1 416 c.416C>A c.(415-417)cCc>cAc p.P139H NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTCATGAACCCCCAGCTATGC 0.502000 10 61 5.50884e-06 6.15596e-06 1 1 0 BAIAP2L1 55971 broad.mit.edu 37 7 97941556 97941556 + Silent SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:97941556G>T ENST00000005260.8 - 8 875 c.660C>A c.(658-660)tcC>tcA p.S220S BAIAP2L1_ENST00000462558.1_5'UTR NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 220 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) GAGGCAGCTTGGAATTCAGTA 0.448000 41 155 9.84934e-19 1.34838e-18 1 1 0 OR8J1 219477 broad.mit.edu 37 11 56127818 56127818 + Silent SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:56127818G>C ENST00000303039.3 + 1 128 c.96G>C c.(94-96)ctG>ctC p.L32L NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TGGTCTTTCTGGTGCTCTATG 0.502000 11 82 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377279 44377279 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:44377279C>T ENST00000587539.1 - 3 1086 c.1087G>A c.(1087-1089)Gcc>Acc p.A363T ZNF404_ENST00000324394.6_Missense_Mutation_p.A361T NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) CTACAAAAGGCCTTTCCACAA 0.393000 6 36 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222832074 222832074 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:222832074C>A ENST00000344922.5 + 19 4643 c.4618C>A c.(4618-4620)Caa>Aaa p.Q1540K MIA3_ENST00000340535.7_Missense_Mutation_p.Q418K|MIA3_ENST00000344441.6_Missense_Mutation_p.Q1540K|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1540 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GAAACTGAGTCAAGAAGAGTA 0.408000 34 185 4.0492e-12 5.25263e-12 1 1 0 OR5M11 219487 broad.mit.edu 37 11 56310049 56310049 + Missense_Mutation SNP A A C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:56310049A>C ENST00000528616.2 - 1 708 c.685T>G c.(685-687)Tca>Gca p.S229A NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 CCCTCTGCTGATTTGATCCGG 0.502000 10 41 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925051 54925051 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr12:54925051G>A ENST00000293373.6 + 23 2593 c.2514G>A c.(2512-2514)cgG>cgA p.R838R NCKAP1L_ENST00000545638.2_Silent_p.R788R NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 838 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CAGAGATGCGGGCCTTGGCAG 0.473000 32 95 0 0 1 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001279 13001279 + Missense_Mutation SNP A A T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:13001279A>T ENST00000376189.1 - 3 503 c.404T>A c.(403-405)gTg>gAg p.V135E PRAMEF6_ENST00000415464.2_Missense_Mutation_p.V135E|PRAMEF6_ENST00000376192.5_Intron NM_001010889.2 NP_001010889.1 Q5VXH4 PRAM6_HUMAN PRAME family member 6 135 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACAGTCCTGCACTGGTGTTTT 0.507000 45 386 0 0 1 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679084 37679084 + Missense_Mutation SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr13:37679084A>G ENST00000379800.3 - 1 719 c.310T>C c.(310-312)Tgt>Cgt p.C104R NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 104 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) CTTCTTGAACAGAAATTAAAG 0.443000 21 31 0 0 1 0 0 EXD2 55218 broad.mit.edu 37 14 69704350 69704350 + Missense_Mutation SNP A A T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr14:69704350A>T ENST00000409014.1 + 10 1633 c.976A>T c.(976-978)Aac>Tac p.N326Y EXD2_ENST00000409949.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409675.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409242.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409018.3_Missense_Mutation_p.N451Y|EXD2_ENST00000312994.5_Missense_Mutation_p.N451Y|EXD2_ENST00000449989.1_Missense_Mutation_p.N326Y|EXD2_ENST00000492815.1_3'UTR NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 326 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 GAAGGACCACAACTCCCACGA 0.547000 16 37 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1706279 1706279 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr16:1706279C>T ENST00000397412.3 + 10 1620 c.1521C>T c.(1519-1521)gaC>gaT p.D507D CRAMP1L_ENST00000436138.3_Silent_p.D504D|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000293925.5_Silent_p.D507D Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 507 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GCAGCCCGGACGCTCCTGACA 0.701000 7 19 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80835392 80835392 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:80835392C>A ENST00000466387.1 + 21 3103 c.2379C>A c.(2377-2379)agC>agA p.S793R CTNNA2_ENST00000541047.1_Missense_Mutation_p.S793R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S793R|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S827R|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S472R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S793R P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 793 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ATATCTGCAGCAAGGTGAAGG 0.443000 9 52 1.12685e-05 1.25168e-05 1 1 0 ZNF667 63934 broad.mit.edu 37 19 56973797 56973797 + Splice_Site SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:56973797G>T ENST00000342634.3 - 3 221 c.220_splice c.e3-1 p.A74_splice ZNF667_ENST00000504904.3_5'UTR|ZNF667_ENST00000292069.6_5'UTR|ZNF667_ENST00000591790.1_5'UTR Q5HYK9 ZN667_HUMAN zinc finger protein 667 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GGTAAGGCAGGGCTGTGGGGA 0.557000 16 62 9.16793e-09 1.10792e-08 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181479697 181479697 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:181479697G>A ENST00000526775.1 + 2 516 c.351G>A c.(349-351)aaG>aaA p.K117K CACNA1E_ENST00000360108.3_Silent_p.K117K|CACNA1E_ENST00000367573.2_Silent_p.K117K|CACNA1E_ENST00000357570.5_Silent_p.K68K|CACNA1E_ENST00000358338.5_Silent_p.K68K|CACNA1E_ENST00000367570.1_Silent_p.K117K|CACNA1E_ENST00000367567.4_5'UTR NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 117 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGGATGACAAGACCCCCATGT 0.522000 7 35 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112190 81112190 + Silent SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr12:81112190C>A ENST00000228644.3 + 2 707 c.555C>A c.(553-555)atC>atA p.I185I NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 185 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 TTGACAGCATCTACTGTCCTG 0.388000 25 104 1.66031e-10 2.08804e-10 1 1 0 C4orf40 401137 broad.mit.edu 37 4 71024146 71024146 + Silent SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:71024146C>A ENST00000344526.5 + 3 366 c.177C>A c.(175-177)gtC>gtA p.V59V C4orf40_ENST00000502294.1_Silent_p.V59V|C4orf40_ENST00000502441.2_Intron NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 59 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TGAATACAGTCCCCAGTTACC 0.453000 44 90 2.47872e-24 3.5234e-24 1 1 0 BAHCC1 57597 broad.mit.edu 37 17 79418800 79418800 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:79418800G>A ENST00000307745.7 + 16 4083 c.4083G>A c.(4081-4083)gcG>gcA p.A1361A CTGCCCCAGCGCAGCCGCCCA 0.687000 3 21 0 0 1 0 0 ZNF565 147929 broad.mit.edu 37 19 36673780 36673780 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:36673780T>A ENST00000355114.5 - 5 1934 c.1208A>T c.(1207-1209)tAt>tTt p.Y403F ZNF565_ENST00000392173.2_Missense_Mutation_p.Y363F|ZNF565_ENST00000304116.5_Missense_Mutation_p.Y363F Q8N9K5 ZN565_HUMAN zinc finger protein 565 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(4)|ovary(1)|skin(2) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) CTTACACTCATAGGGTTTCTC 0.483000 16 64 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29185322 29185322 + Silent SNP C C T rs140973444 TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:29185322C>T ENST00000321990.4 + 9 3315 c.2937C>T c.(2935-2937)tcC>tcT p.S979S CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 979 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TACTTTCTTCCGAGTGTCATA 0.264000 3 24 0 0 1 0 0 GSTA2 2939 broad.mit.edu 37 6 52619848 52619848 + Silent SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:52619848C>A ENST00000493422.1 - 4 320 c.165G>T c.(163-165)gtG>gtT p.V55V NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 55 GST N-terminal.|Glutathione binding. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) CAACCATTGGCACTTGCTGGA 0.403000 15 83 7.93312e-07 9.19746e-07 1 1 0 LAG3 3902 broad.mit.edu 37 12 6883837 6883837 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr12:6883837C>T ENST00000203629.2 + 4 921 c.588C>T c.(586-588)cgC>cgT p.R196R LAG3_ENST00000441671.2_Silent_p.R196R NM_002286.5 NP_002277.4 P18627 LAG3_HUMAN lymphocyte-activation gene 3 196 Ig-like C2-type 1. integral to membrane antigen binding|MHC class II protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GCCCTGACCGCCCAGCCTCTG 0.617000 5 85 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25483216 25483216 + RNA SNP A A T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr15:25483216A>T ENST00000453082.2 + 0 1979 NR_003343.1 CTGAAGCCCAAGCTAGGTGAG 0.458000 15 79 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141765207 141765207 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:141765207G>C ENST00000475668.2 + 38 4611 c.4557G>C c.(4555-4557)tgG>tgC p.W1519C MGAM_ENST00000549489.2_Missense_Mutation_p.W1519C O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1519 Glucoamylase. 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) CTGGCCGCTGGGCAGGACATT 0.612000 4 18 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62935916 62935916 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:62935916G>T ENST00000514591.1 + 25 4029 c.3700G>T c.(3700-3702)Ggc>Tgc p.G1234C LPHN3_ENST00000545650.1_Missense_Mutation_p.G1234C|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1345C|LPHN3_ENST00000514996.1_Missense_Mutation_p.G1268C|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1336C|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000512091.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1277C|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1293C Q9HAR2 LPHN3_HUMAN latrophilin 3 1212 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CATTGCCAGCGGCGAATACCT 0.453000 13 27 9.05144e-12 1.166e-11 1 1 0 AATF 26574 broad.mit.edu 37 17 35346000 35346000 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:35346000C>T ENST00000225402.5 + 6 1381 c.1130C>T c.(1129-1131)gCt>gTt p.A377V NM_012138.3 NP_036270.1 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 377 RB1 and SP1 binding. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) ACCAAACTGGCTTCTGGAAAA 0.463000 6 39 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207890873 207890873 + Silent SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:207890873T>C ENST00000508064.2 + 11 1539 c.1479T>C c.(1477-1479)gaT>gaC p.D493D NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 493 Sushi 8. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CCCTTGGAGATATTCCCTATG 0.453000 16 98 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16682009 16682009 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:16682009C>T ENST00000513610.1 - 31 4614 c.4160G>A c.(4159-4161)aGa>aAa p.R1387K MYO10_ENST00000515803.1_Missense_Mutation_p.R726K|MYO10_ENST00000427430.2_Missense_Mutation_p.R744K|MYO10_ENST00000505695.1_Missense_Mutation_p.R726K|MYO10_ENST00000274203.9_Missense_Mutation_p.R744K NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1387 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GCCCTCCACTCTGGTGTCCCC 0.577000 16 82 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66102523 66102523 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:66102523G>T ENST00000349533.6 + 20 3508 c.3323G>T c.(3322-3324)tGt>tTt p.C1108F LEPR_ENST00000406510.3_Missense_Mutation_p.C175F NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1108 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) CCAGCCCCCTGTTTATTCACG 0.413000 12 33 5.50884e-06 6.15596e-06 1 1 0 VPS4A 27183 broad.mit.edu 37 16 69349973 69349973 + Silent SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr16:69349973G>T ENST00000254950.11 + 2 240 c.84G>T c.(82-84)gcG>gcT p.A28A VPS4A_ENST00000569775.1_3'UTR|RP11-343C2.3_ENST00000570054.2_Silent_p.A52A NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 28 Interaction with CHMP1B.|MIT. cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) ACGAGGAGGCGCTGCGGCTGT 0.577000 30 73 5.91797e-21 8.28515e-21 1 1 0 COL1A2 1278 broad.mit.edu 37 7 94037685 94037685 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:94037685G>A ENST00000297268.6 + 15 1202 c.731G>A c.(730-732)gGt>gAt p.G244D NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 244 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTCCCGTGGGTCCTGCTGTA 0.438000 HNSCC(75;0.22) 26 77 0 0 1 0 0 EVA1A 84141 broad.mit.edu 37 2 75720460 75720460 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:75720460C>A ENST00000233712.1 - 4 798 c.361G>T c.(361-363)Gcc>Tcc p.A121S EVA1A_ENST00000393913.3_Missense_Mutation_p.A121S|EVA1A_ENST00000410071.1_Missense_Mutation_p.A121S|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Missense_Mutation_p.A121S|EVA1A_ENST00000410010.1_Missense_Mutation_p.A109S NM_032181.2 NP_115557.1 eva-1 homolog A (C. elegans) AGCCGCTGGGCGCGCTCCAGC 0.617000 11 51 0.000978159 0.00104281 1 1 0 CFTR 1080 broad.mit.edu 37 7 117171079 117171079 + Missense_Mutation SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:117171079A>G ENST00000003084.6 + 4 532 c.400A>G c.(400-402)Agg>Ggg p.R134G CFTR_ENST00000454343.1_Missense_Mutation_p.R134G NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 134 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CTTTATTGTGAGGACACTGCT 0.418000 Cystic Fibrosis 9 36 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 5 74 0.014758 0.0151668 1 1 0 KIAA0895 23366 broad.mit.edu 37 7 36396959 36396959 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:36396959G>A ENST00000317020.6 - 2 566 c.266C>T c.(265-267)tCt>tTt p.S89F KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000297063.6_Missense_Mutation_p.S140F|KIAA0895_ENST00000338533.5_Missense_Mutation_p.S127F|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000415803.2_Missense_Mutation_p.S127F|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.S89F NM_015314.2 NP_056129.2 Q8NCT3 K0895_HUMAN KIAA0895 140 breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 AGTGTTAGGAGATTTGCTGGG 0.468000 15 37 0 0 1 0 0 ZNF710 374655 broad.mit.edu 37 15 90617403 90617403 + Missense_Mutation SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr15:90617403A>G ENST00000268154.4 + 4 1957 c.1706A>G c.(1705-1707)cAc>cGc p.H569R NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) ATGCACCTGCACGCCGGCAGC 0.582000 7 50 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138391439 138391439 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:138391439T>C ENST00000310018.2 - 22 2735 c.2453A>G c.(2452-2454)tAt>tGt p.Y818C ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.Y818C|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.Y818C NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 818 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ATCCCCGACATAGAACTTGTT 0.522000 7 60 0 0 1 0 0 SCG3 29106 broad.mit.edu 37 15 51984467 51984467 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr15:51984467G>A ENST00000220478.3 + 7 1205 c.802G>A c.(802-804)Gaa>Aaa p.E268K SCG3_ENST00000542355.2_Missense_Mutation_p.E36K NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 268 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) AACCTACAGTGAAGACAACTT 0.383000 5 75 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55625272 55625272 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:55625272G>A ENST00000370830.3 - 5 1785 c.1087C>T c.(1087-1089)Cgg>Tgg p.R363W BMP5_ENST00000446683.2_Missense_Mutation_p.R363W NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 363 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.R363W(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CCCAGATCCCGGAAGCTCACA 0.358000 13 51 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128418 147128418 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:147128418G>A ENST00000282928.4 + 1 1248 c.519G>A c.(517-519)ccG>ccA p.P173P NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 173 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 ACATGTACCCGCGACCGGAGC 0.682000 6 65 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25677927 25677927 + Silent SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:25677927G>T ENST00000382051.3 + 13 1679 c.1629G>T c.(1627-1629)acG>acT p.T543T SLC34A2_ENST00000503434.1_Silent_p.T542T|SLC34A2_ENST00000504570.1_Silent_p.T542T NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 543 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity p.T543T(1) SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TCCCGCTGACGGTGTTTGGCC 0.602000 T ROS1 NSCLC 30 106 6.29468e-14 8.34046e-14 1 1 0 CC2D2B 387707 broad.mit.edu 37 10 97769595 97769595 + Missense_Mutation SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:97769595A>G ENST00000371198.2 + 12 1348 c.308A>G c.(307-309)aAg>aGg p.K103R ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000344386.3_Missense_Mutation_p.K12R|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K12R|ENTPD1-AS1_ENST00000451364.1_RNA Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 12 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) CACTGTCTCAAGAGCTGTAGT 0.308000 15 51 0 0 1 0 0 AMT 275 broad.mit.edu 37 3 49455267 49455267 + Missense_Mutation SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:49455267C>G ENST00000273588.3 - 8 1319 c.1017G>C c.(1015-1017)atG>atC p.M339I AMT_ENST00000458307.2_Missense_Mutation_p.M295I|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Missense_Mutation_p.M283I|AMT_ENST00000395338.2_Missense_Mutation_p.M339I|AMT_ENST00000546031.1_Missense_Mutation_p.M242I NM_000481.3 NP_000472.2 P48728 GCST_HUMAN aminomethyltransferase 339 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TGGTACCCTCCATGTTCAGGA 0.622000 37 84 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9122825 9122825 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:9122825G>A ENST00000382496.5 - 14 2389 c.1724C>T c.(1723-1725)cCg>cTg p.P575L NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 575 TSP type-1 1. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ACCACACTGCGGGGCCGGGCT 0.632000 6 98 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78167687 78167687 + Nonsense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr13:78167687C>A ENST00000535157.1 + 11 835 c.665C>A c.(664-666)tCa>tAa p.S222* SCEL_ENST00000349847.3_Nonsense_Mutation_p.S244*|SCEL_ENST00000377246.3_Intron NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 244 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) GTGGCCACTTCACTTCAGAGA 0.383000 4 31 2.56e-06 2.91337e-06 1 1 0 AC226119.5 0 broad.mit.edu 37 4 3948596 3948596 + RNA SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:3948596C>T ENST00000281228.8 - 0 789 FAM86EP_ENST00000313946.8_RNA AGCCAGCCTCCGCAGGACCCC 0.587000 4 72 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156643193 156643193 + Nonsense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:156643193C>T ENST00000296518.7 + 9 1929 c.1720C>T c.(1720-1722)Cga>Tga p.R574* GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.R316*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.R574* Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 574 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CTTTCAGATGCGAATTGGACT 0.398000 15 149 0 0 1 0 0 TPTEP1 387590 broad.mit.edu 37 22 17119488 17119488 + RNA SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr22:17119488G>C ENST00000426585.1 + 0 300 AGTTTTCCTGGTCTTACTGGA 0.338000 12 40 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148599396 148599396 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:148599396G>A ENST00000296046.3 + 7 716 c.664G>A c.(664-666)Gga>Aga p.G222R RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 222 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CAATGTTGATGGATATATTTG 0.363000 13 50 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578461 7578461 + Missense_Mutation SNP C C A rs121912654 TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:7578461C>A ENST00000420246.2 - 5 601 c.469G>T c.(469-471)Gtc>Ttc p.V157F TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 157 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGCGCGGACGCGGGTGCCG 0.617000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 35 1.36161e-19 1.87791e-19 1 1 0 DUSP5 1847 broad.mit.edu 37 10 112266724 112266724 + Missense_Mutation SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:112266724A>G ENST00000369583.3 + 3 844 c.560A>G c.(559-561)tAc>tGc p.Y187C DUSP5_ENST00000468749.1_3'UTR NM_004419.3 NP_004410.3 Q16690 DUS5_HUMAN dual specificity phosphatase 5 187 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) CCCTTCCTCTACCTTGGAAGT 0.527000 83 232 0 0 1 0 0 DCXR 51181 broad.mit.edu 37 17 79994505 79994505 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:79994505G>A ENST00000306869.2 - 5 412 c.363C>T c.(361-363)ggC>ggT p.G121G DCXR_ENST00000584318.1_5'UTR NM_001195218.1|NM_016286.3 NP_001182147.1|NP_057370.1 Q7Z4W1 DCXR_HUMAN dicarbonyl/L-xylulose reductase 121 D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process membrane binding|L-xylulose reductase (NADP+) activity kidney(1)|lung(3) 4 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GGGCTATTAAGCCCCTGGCCA 0.612000 27 83 0 0 1 0 0 NME4 4833 broad.mit.edu 37 16 449681 449681 + Missense_Mutation SNP G G A rs145944648 byFrequency TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr16:449681G>A ENST00000397722.1 + 4 646 c.172G>A c.(172-174)Gac>Aac p.D58N NME4_ENST00000382940.4_Missense_Mutation_p.D136N|NME4_ENST00000450036.1_Missense_Mutation_p.D58N|NME4_ENST00000219479.2_Missense_Mutation_p.D128N O00746 NDKM_HUMAN NME/NM23 nucleoside diphosphate kinase 4 128 CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space ATP binding|metal ion binding|nucleoside diphosphate kinase activity NS(1)|lung(1)|stomach(1)|urinary_tract(1) 4 Hepatocellular(16;0.00015) TGGACACACCGACTCGGCTGA 0.612000 18 121 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919582 4919582 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr12:4919582G>C ENST00000433855.1 + 1 1241 c.375G>C c.(373-375)caG>caC p.Q125H KCNA6_ENST00000280684.3_Missense_Mutation_p.Q125H NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 125 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GCTTCTACCAGCTGGGGGACG 0.687000 HNSCC(72;0.22) 28 87 0 0 1 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131680 142131680 + RNA SNP T T G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:142131680T>G ENST00000390375.2 - 0 115 GTGTGGGACTTTGGGTGACTC 0.557000 19 81 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201460033 201460033 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:201460033G>A ENST00000374700.2 + 3 383 c.142G>A c.(142-144)Ggc>Agc p.G48S NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 48 2Fe-2S ferredoxin-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TGGAGGAGGAGGCTGTGGTGC 0.418000 3 15 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55212545 55212545 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:55212545C>A ENST00000396834.1 + 17 2331 c.1835C>A c.(1834-1836)cCc>cAc p.P612H IL31RA_ENST00000490985.1_Missense_Mutation_p.P489H|IL31RA_ENST00000447346.2_Missense_Mutation_p.P631H|IL31RA_ENST00000354961.4_Missense_Mutation_p.P612H|IL31RA_ENST00000359040.5_Missense_Mutation_p.P631H NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 599 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TGTTCCACCCCCAGTGACAAG 0.428000 10 34 1.76689e-08 2.12142e-08 1 1 0 PCMTD1 115294 broad.mit.edu 37 8 52733186 52733186 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:52733186C>A ENST00000360540.5 - 7 1205 c.799G>T c.(799-801)Ggg>Tgg p.G267W PCMTD1_ENST00000522514.1_Missense_Mutation_p.G267W|PCMTD1_ENST00000544451.1_Missense_Mutation_p.G191W|PCMTD1_ENST00000519559.1_5'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 267 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TGAGGAATCCCCTTGGCCTGC 0.423000 5 142 3.59834e-05 3.938e-05 1 1 0 NRXN1 9378 broad.mit.edu 37 2 50280582 50280582 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:50280582C>T ENST00000404971.1 - 22 5414 c.4075G>A c.(4075-4077)Gcc>Acc p.A1359T NRXN1_ENST00000401669.2_Missense_Mutation_p.A1319T|NRXN1_ENST00000401710.1_Missense_Mutation_p.A307T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1311T|NRXN1_ENST00000342183.5_Missense_Mutation_p.A254T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1311T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1289T|NRXN1_ENST00000406316.2_Missense_Mutation_p.A1289T NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1289 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCCACTATGGCGATGTTGGCA 0.507000 28 61 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131190744 131190744 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:131190744C>T ENST00000337057.3 - 15 2747 c.2566G>A c.(2566-2568)Gtt>Att p.V856I EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V786I|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V786I|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.V234I|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V856I NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 856 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TCAATGTCAACATGGGACACC 0.483000 4 77 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52797605 52797605 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr12:52797605G>T ENST00000257974.2 - 2 577 c.500C>A c.(499-501)cCc>cAc p.P167H NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 167 Coil 1B.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) CTCGAAGATGGGCTCGATGTT 0.602000 23 70 2.21704e-12 2.8962e-12 1 1 0 C10orf53 282966 broad.mit.edu 37 10 50902583 50902583 + Splice_Site SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:50902583G>T ENST00000374111.3 + 3 229 c.e3-1 C10orf53_ENST00000374113.3_3'UTR|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000535836.1_Intron NM_001042427.1 NP_001035892.1 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 endometrium(1)|lung(6) 7 all_neural(218;0.107) TGTTTCCCTAGGAGGCGATGG 0.438000 18 36 1.01871e-10 1.28552e-10 1 1 0 CNTN3 5067 broad.mit.edu 37 3 74420439 74420439 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:74420439G>C ENST00000263665.6 - 5 593 c.566C>G c.(565-567)tCt>tGt p.S189C NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 189 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TCCCACATCAGACGGCTCCAC 0.473000 4 33 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55222134 55222134 + RNA SNP A A T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:55222134A>T ENST00000413439.1 + 0 1661 CAGCTCACGCAGATTCTTCCC 0.602000 14 85 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113349777 113349777 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:113349777C>T ENST00000297405.5 - 43 7080 c.6836G>A c.(6835-6837)tGt>tAt p.C2279Y CSMD3_ENST00000343508.3_Missense_Mutation_p.C2239Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.C2209Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2175Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2279 Sushi 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATACCTTCACACCTTGGAAG 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 41 0 0 1 0 0 DDX25 29118 broad.mit.edu 37 11 125791159 125791159 + Silent SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:125791159T>C ENST00000263576.6 + 11 1430 c.1275T>C c.(1273-1275)taT>taC p.Y425Y DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA NM_013264.4 NP_037396.3 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 25 425 Helicase C-terminal. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) AGCCGGACTATGAGACCTACC 0.493000 10 13 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29364551 29364551 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:29364551C>T ENST00000383555.2 + 1 136 c.75C>T c.(73-75)ctC>ctT p.L25L OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 AGCCTTTTCTCTTCGTGGTTT 0.433000 25 116 0 0 1 0 0 CCDC102A 92922 broad.mit.edu 37 16 57552018 57552018 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr16:57552018G>T ENST00000258214.2 - 6 1456 c.1210C>A c.(1210-1212)Ctg>Atg p.L404M NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 404 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 CTGGCCCTCAGGTCGCAGTCC 0.687000 50 101 3.4597e-24 4.89904e-24 1 1 0 DIP2C 22982 broad.mit.edu 37 10 429991 429991 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:429991T>A ENST00000280886.6 - 16 1939 c.1852A>T c.(1852-1854)Ata>Tta p.I618L DIP2C_ENST00000381496.3_Missense_Mutation_p.I511L NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 618 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TCCGCCACTATCAGCATTCGC 0.507000 17 49 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66262881 66262881 + Missense_Mutation SNP A A T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:66262881A>T ENST00000532677.1 + 14 1956 c.1555A>T c.(1555-1557)Agc>Tgc p.S519C DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000453114.1_Missense_Mutation_p.S500C|DPP3_ENST00000360510.2_Missense_Mutation_p.S500C|DPP3_ENST00000531863.1_Missense_Mutation_p.S520C|DPP3_ENST00000530165.1_Missense_Mutation_p.S470C|DPP3_ENST00000541961.1_Missense_Mutation_p.S500C NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 500 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 TAGCAAGTTCAGCACCATCGC 0.617000 6 21 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579452 82579452 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:82579452C>A ENST00000423517.2 - 6 10789 c.10452G>T c.(10450-10452)atG>atT p.M3484I PCLO_ENST00000437081.1_Missense_Mutation_p.M204I|PCLO_ENST00000333891.8_Missense_Mutation_p.M3484I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3415 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATCTAGTAGGCATATCCCACT 0.468000 11 44 6.40141e-05 6.94422e-05 1 1 0 PLRG1 5356 broad.mit.edu 37 4 155461982 155461982 + Missense_Mutation SNP A A C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:155461982A>C ENST00000499023.2 - 9 918 c.792T>G c.(790-792)tgT>tgG p.C264W PLRG1_ENST00000393905.2_Missense_Mutation_p.C264W|PLRG1_ENST00000302078.5_Missense_Mutation_p.C255W NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 264 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) TGTCTTCTCCACAAGAGAACA 0.393000 11 64 0 0 1 0 0 FAM163B 642968 broad.mit.edu 37 9 136444284 136444284 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr9:136444284C>T ENST00000496132.1 - 3 605 c.361G>A c.(361-363)Gtg>Atg p.V121M FAM163B_ENST00000356873.3_Missense_Mutation_p.V121M P0C2L3 F163B_HUMAN family with sequence similarity 163, member B 121 integral to membrane large_intestine(1) 1 TTGTAGAGCACGCGCTCCCCG 0.716000 6 20 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972525 92972525 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:92972525G>C ENST00000523629.1 - 12 2214 c.1760C>G c.(1759-1761)aCt>aGt p.T587S RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T560S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T550S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T560S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T598S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T550S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T587S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T550S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 587 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGACCTCGGAGTGGCTGCTGG 0.622000 7 14 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16458622 16458622 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:16458622C>A ENST00000358432.5 - 13 2416 c.2262G>T c.(2260-2262)aaG>aaT p.K754N NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 754 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) AGTCAGACACCTTGCAGACCA 0.612000 39 111 2.05212e-20 2.86217e-20 1 1 0 ATP6V1H 51606 broad.mit.edu 37 8 54669137 54669137 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:54669137G>A ENST00000355221.3 - 11 1760 c.1201C>T c.(1201-1203)Cgg>Tgg p.R401W ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R379W|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R419W|ATP6V1H_ENST00000523899.1_Intron|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.R419W NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 419 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) GGATAATGCCGCACATATTCT 0.368000 8 44 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37285383 37285383 + Silent SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:37285383A>G ENST00000373091.3 - 12 1843 c.1827T>C c.(1825-1827)acT>acC p.T609T GRIK3_ENST00000373093.4_Silent_p.T609T NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 609 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGTTAAGCAGAGTGAAGTTAT 0.572000 3 14 0 0 1 0 0 NOP56 10528 broad.mit.edu 37 20 2638813 2638813 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr20:2638813G>A ENST00000329276.5 + 12 2174 c.1658G>A c.(1657-1659)aGa>aAa p.R553K NOP56_ENST00000492135.1_3'UTR NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 553 Lys-rich. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 GCAGGCCACAGAAGTGGCTCC 0.522000 3 13 0 0 1 0 0 IL17REL 400935 broad.mit.edu 37 22 50438984 50438984 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr22:50438984G>A ENST00000389983.2 - 6 521 c.257C>T c.(256-258)gCc>gTc p.A86V IL17REL_ENST00000341280.5_Missense_Mutation_p.A86V NM_001001694.2 NP_001001694.2 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 86 endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GAGGTGCTGGGCCACGCTCAC 0.647000 20 65 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47605460 47605460 + Silent SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:47605460A>G ENST00000273857.4 - 20 2765 c.2766T>C c.(2764-2766)ccT>ccC p.P922P CORIN_ENST00000502252.1_Silent_p.P855P|CORIN_ENST00000505909.1_Silent_p.P885P|CORIN_ENST00000508498.1_Silent_p.P783P NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 922 Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 AGTACGTGTCAGGCTCTAGCC 0.512000 22 40 0 0 1 0 0 TRIL 9865 broad.mit.edu 37 7 28997564 28997564 + RNA SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:28997564G>A ENST00000322982.3 - 0 370 AC005013.5_ENST00000436594.1_lincRNA Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine-rich repeats inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding TGGGGATGCTGGCAGTCGCAG 0.721000 15 32 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56473886 56473886 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:56473886G>T ENST00000370754.5 - 39 5440 c.5441C>A c.(5440-5442)gCt>gAt p.A1814D DST_ENST00000361203.3_Missense_Mutation_p.A1636D|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.A1636D|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.A1636D|DST_ENST00000446842.2_Missense_Mutation_p.A1310D|DST_ENST00000421834.2_Intron Q03001 DYST_HUMAN dystonin 1636 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGGTGACGCAGCAGAAATAAT 0.408000 49 135 1.42923e-14 1.91424e-14 1 1 0 LHFPL3 375612 broad.mit.edu 37 7 104377184 104377184 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:104377184C>T ENST00000535008.1 + 4 632 c.508C>T c.(508-510)Cgg>Tgg p.R170W LHFPL3_ENST00000543266.1_Missense_Mutation_p.R170W|LHFPL3_ENST00000424859.1_Missense_Mutation_p.R156W|LHFPL3_ENST00000401970.2_Missense_Mutation_p.R156W Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 156 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 TGAAGTAAAACGGATGTGTGG 0.453000 10 18 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21639538 21639538 + Missense_Mutation SNP C C A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:21639538C>A ENST00000328843.6 + 15 2832 c.2801C>A c.(2800-2802)aCa>aAa p.T934K DNAH11_ENST00000409508.3_Missense_Mutation_p.T934K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 934 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 CTGAAGAATACAGAGAAACAA 0.408000 Kartagener syndrome 10 27 0.00621372 0.00653056 1 1 0 HIST1H2AH 85235 broad.mit.edu 37 6 27114944 27114944 + Missense_Mutation SNP G G T rs150434841 TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:27114944G>T ENST00000377459.1 + 1 84 c.37G>T c.(37-39)Gcc>Tcc p.A13S NM_080596.1 NP_542163.1 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 13 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1) 12 TAAAGCTCGCGCCAAGGCCAA 0.577000 13 78 7.03913e-09 8.53437e-09 1 1 0 OPRK1 4986 broad.mit.edu 37 8 54163396 54163396 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:54163396C>T ENST00000265572.3 - 2 499 c.202G>A c.(202-204)Gta>Ata p.V68I OPRK1_ENST00000520287.1_Missense_Mutation_p.V68I NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 68 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) ACGAACACTACGGAGTAGACC 0.701000 4 50 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219892334 219892334 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:219892334G>C ENST00000409865.3 - 13 2219 c.2216C>G c.(2215-2217)tCt>tGt p.S739C CCDC108_ENST00000410037.1_Missense_Mutation_p.S685C|CCDC108_ENST00000341552.5_Intron|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron NM_001278295.1 NP_001265224.1 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 0 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTCCTAGCAGAGACCCCGCA 0.602000 8 123 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188671 57188671 + Missense_Mutation SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:57188671T>C ENST00000331162.4 - 5 721 c.451A>G c.(451-453)Act>Gct p.T151A NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTTTGGGTAGTTGACAAACAT 0.303000 17 55 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42813749 42813749 + Nonsense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:42813749G>T ENST00000499536.2 + 1 824 c.13G>T c.(13-15)Gga>Tga p.G5* PRR19_ENST00000341747.3_Nonsense_Mutation_p.G5*|PRR19_ENST00000598490.1_Nonsense_Mutation_p.G5* A6NJB7 PRR19_HUMAN proline rich 19 5 NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) GGATACCCAGGGACCAGTCTC 0.582000 24 84 1.10923e-09 1.37634e-09 1 1 0 RUNX1T1 862 broad.mit.edu 37 8 92998397 92998397 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:92998397G>T ENST00000523629.1 - 9 1688 c.1234C>A c.(1234-1236)Cac>Aac p.H412N RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H385N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H375N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H385N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H423N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H375N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H412N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H375N NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 412 Poly-Ser. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGCCTAGAGTGGCTGCTGCTA 0.488000 48 154 7.05377e-20 9.76473e-20 1 1 0 YOD1 55432 broad.mit.edu 37 1 207222565 207222565 + Silent SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:207222565G>A ENST00000367084.1 - 4 919 c.715C>T c.(715-717)Ctg>Ttg p.L239L YOD1_ENST00000391927.1_Silent_p.L239L|YOD1_ENST00000315927.4_Silent_p.L283L NM_001276320.1 NP_001263249.1 Q5VVQ6 OTU1_HUMAN YOD1 deubiquitinase 283 OTU. cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination intracellular protein binding|ubiquitin-specific protease activity|zinc ion binding cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3) 11 Prostate(682;0.19) AAAATGGTCAGAGGAGGTGTA 0.423000 16 94 0 0 1 0 0 ASCL1 429 broad.mit.edu 37 12 103352481 103352481 + Missense_Mutation SNP G G C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr12:103352481G>C ENST00000266744.3 + 1 1018 c.459G>C c.(457-459)aaG>aaC p.K153N NM_004316.3 NP_004307.2 P50553 ASCL1_HUMAN achaete-scute family bHLH transcription factor 1 153 Helix-loop-helix motif. cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity NS(3)|large_intestine(1)|lung(1) 5 CCAACAAGAAGATGAGTAAGG 0.667000 9 38 0 0 1 0 0 FER 2241 broad.mit.edu 37 5 108436099 108436099 + Missense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:108436099G>T ENST00000281092.4 + 17 2311 c.1927G>T c.(1927-1929)Ggt>Tgt p.G643C FER_ENST00000438717.2_Missense_Mutation_p.G468C NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 643 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TCCTCTAGGAGGTGATTTCCT 0.353000 3 13 1 1 1 1 0 AGO3 192669 broad.mit.edu 37 1 36499931 36499931 + Missense_Mutation SNP A A G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:36499931A>G ENST00000373191.4 + 13 2097 c.1748A>G c.(1747-1749)cAa>cGa p.Q583R AGO3_ENST00000246314.6_Missense_Mutation_p.Q349R NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 GTACCTCATCAAAGGTAAGAT 0.313000 6 21 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41057403 41057403 + Missense_Mutation SNP C C G TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:41057403C>G ENST00000399564.4 - 8 1266 c.816G>C c.(814-816)ttG>ttC p.L272F MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TGGATCTTCTCAAGCTCCTTG 0.418000 3 13 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53049182 53049182 + Silent SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:53049182T>C ENST00000276480.7 - 19 2951 c.2268A>G c.(2266-2268)aaA>aaG p.K756K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 756 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) CCATGAGGGATTTTAGAGTCT 0.483000 9 18 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45673780 45673780 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:45673780C>T ENST00000322157.4 + 13 1725 c.1488C>T c.(1486-1488)acC>acT p.T496T NPEPPS_ENST00000544660.1_Silent_p.T416T|NPEPPS_ENST00000530173.1_Silent_p.T492T NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 496 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TGATGAATACCTGGACCAAAC 0.328000 4 5 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203188951 203188951 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:203188951C>T ENST00000367229.1 - 8 790 c.756G>A c.(754-756)caG>caA p.Q252Q CHIT1_ENST00000255427.3_Silent_p.Q233Q|CHIT1_ENST00000535569.1_Silent_p.Q243Q|CHIT1_ENST00000484834.1_5'UTR NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 252 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GGGTCCCCTTCTGCAGCCACT 0.582000 OREG0006436 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CHIT1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 4 50 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67101628 67101628 + Splice_Site SNP A A C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr1:67101628A>C ENST00000371037.4 + 4 178 c.99_splice c.e4-1 p.Q34_splice SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000468286.1_Intron NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 34 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CAATTCCAGCAGCCCAGCCCA 0.383000 31 84 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 4 28 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608275 84608275 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr9:84608275C>T ENST00000344803.2 + 4 2937 c.2890C>T c.(2890-2892)Cgt>Tgt p.R964C NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CTCTAAGTCCCGTAGTCGAAG 0.512000 66 54 0 0 1 0 0 BZW1 9689 broad.mit.edu 37 2 201683058 201683058 + Missense_Mutation SNP G G A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr2:201683058G>A ENST00000409600.1 + 8 1216 c.761G>A c.(760-762)cGt>cAt p.R254H BZW1_ENST00000409226.1_Missense_Mutation_p.R258H|BZW1_ENST00000452790.2_Missense_Mutation_p.R286H NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 254 W2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 ATCGGAGCTCGTAAGGAGCTC 0.403000 13 38 0 0 1 0 0 ERICH1 157697 broad.mit.edu 37 8 623640 623640 + Missense_Mutation SNP T T A TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr8:623640T>A ENST00000262109.7 - 4 789 c.712A>T c.(712-714)Agc>Tgc p.S238C ERICH1_ENST00000522706.1_Missense_Mutation_p.S144C NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 238 Glu-rich. endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TCTTCCTCGCTAGCGTCCGCA 0.622000 38 181 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92533682 92533682 + Silent SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr11:92533682C>T ENST00000298047.6 + 9 7520 c.7503C>T c.(7501-7503)taC>taT p.Y2501Y FAT3_ENST00000409404.2_Silent_p.Y2501Y|FAT3_ENST00000525166.1_Silent_p.Y2351Y Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2501 Cadherin 23. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAAGCACATACGTAGCTGAGG 0.498000 TCGA Ovarian(4;0.039) 7 27 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 31 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22364066 22364066 + Nonsense_Mutation SNP G G T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:22364066G>T ENST00000397121.2 - 3 770 c.453C>A c.(451-453)tgC>tgA p.C151* NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C151fs*1(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GTGAAAGCATGCAAAATGATC 0.333000 21 57 2.39187e-15 3.25049e-15 1 1 0 ZPLD1 131368 broad.mit.edu 37 3 102196375 102196377 + In_Frame_Del DEL TCT TCT - TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:102196375_102196377delTCT ENST00000306176.1 + 11 1309_1311 c.1209_1211delTCT c.(1207-1212)tct>tc p.SL403del ZPLD1_ENST00000466937.1_In_Frame_Del_p.SL387del|ZPLD1_ENST00000491959.1_In_Frame_Del_p.SL387del NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 387 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CGAGCTTTTCTCTTCTTCTGTGC 0.468 27 204 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160137291 160137291 + Frame_Shift_Del DEL A A - TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr3:160137291delA ENST00000357388.3 + 12 2268 c.1817delA c.(1816-1818)gafs p.E606fs SMC4_ENST00000469762.1_Frame_Shift_Del_p.E581fs|SMC4_ENST00000344722.5_Frame_Shift_Del_p.E606fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.E606fs|SMC4_ENST00000360111.2_Frame_Shift_Del_p.E606fs|RP11-432B6.3_ENST00000483754.1_Intron NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 606 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATAATTCAAGAAAAAAAATCT 0.338 34 109 --- --- --- --- PTPN13 5783 broad.mit.edu 37 4 87655581 87655581 + Frame_Shift_Del DEL T T - TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr4:87655581delT ENST00000436978.1 + 13 2464 c.1984delT c.(1984-1986)ttfs p.F663fs PTPN13_ENST00000427191.2_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000316707.6_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000411767.2_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000511467.1_Frame_Shift_Del_p.F663fs NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 663 FERM. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CAGAATTAAATTTTTTATGGA 0.348 2 4 --- --- --- --- CTNND2 1501 broad.mit.edu 37 5 11346484 11346485 + Splice_Site INS - - T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:11346484_11346485insT ENST00000304623.8 - 9 1816_1817 c.1628_splice c.e9+1 p.R543_splice CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Splice_Site_p.R110_splice|CTNND2_ENST00000359640.2_Splice_Site_p.R543_splice|CTNND2_ENST00000511377.1_Splice_Site_p.R452_splice|CTNND2_ENST00000503622.1_Splice_Site_p.R206_splice NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 543 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTTTACCCACCTGGGATCTTTC 0.460 22 102 --- --- --- --- RAPGEF6 51735 broad.mit.edu 37 5 130841136 130841136 + Frame_Shift_Del DEL C C - TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:130841136delC ENST00000509018.1 - 10 1227 c.1022delG c.(1021-1023)gafs p.G341fs RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.G56fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.G341fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.G391fs NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 341 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AAAACTATTTCCCATAAACAA 0.358 10 52 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150946859 150946860 + Frame_Shift_Ins INS - - C TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr5:150946859_150946860insC ENST00000261800.5 - 1 1645_1646 c.1633_1634insG c.(1633-1635)gaafs p.E545fs NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 545 Cadherin 4. 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) CACTTCCTTCTCCCGGCGAAAA 0.480 23 61 --- --- --- --- SCUBE3 222663 broad.mit.edu 37 6 35182262 35182262 + Frame_Shift_Del DEL T T - TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr6:35182262delT ENST00000274938.7 + 1 67 c.67delT c.(67-69)acfs p.Y23fs SCUBE3_ENST00000394681.1_Frame_Shift_Del_p.Y23fs NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 23 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 CGCCGCCCAGTACAGCAAAGC 0.741 2 4 --- --- --- --- RP11-340I6.7 0 broad.mit.edu 37 7 63351415 63351415 + RNA DEL G G - TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr7:63351415delG ENST00000587736.1 - 0 688 CAATGGCCCAGGGGGATGTGC 0.617 7 18 --- --- --- --- GPR123 84435 broad.mit.edu 37 10 134884646 134884646 + Frame_Shift_Del DEL G G - TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr10:134884646delG ENST00000607359.1 + 1 214 c.214delG c.(214-216)gafs p.G72fs Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CAGCTTTCCCGGAGCAAAGGT 0.652 3 5 --- --- --- --- NEIL1 79661 broad.mit.edu 37 15 75641258 75641258 + Frame_Shift_Del DEL C C - TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr15:75641258delC ENST00000564784.1 + 3 641 c.12delC c.(10-12)ggfs p.G4fs NEIL1_ENST00000569035.1_Frame_Shift_Del_p.G4fs|NEIL1_ENST00000355059.4_Frame_Shift_Del_p.G4fs|NEIL1_ENST00000567959.1_Intron Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 (E. coli) 4 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1) 13 TGCCTGAGGGCCCCGAGCTGC 0.657 Base excision repair (BER), DNA glycosylases 17 40 --- --- --- --- SLC16A5 9121 broad.mit.edu 37 17 73089780 73089780 + Frame_Shift_Del DEL C C - TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr17:73089780delC ENST00000450736.2 + 2 464 c.49delC c.(49-51)tgfs p.L18fs SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Frame_Shift_Del_p.L18fs|SLC16A5_ENST00000580123.1_Frame_Shift_Del_p.L18fs|SLC16A5_ENST00000538213.2_Frame_Shift_Del_p.L58fs O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 18 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) CTGGGTGGTGCTGCTGGCCAC 0.647 18 51 --- --- --- --- FBN3 84467 broad.mit.edu 37 19 8155123 8155124 + Frame_Shift_Del DEL CT CT - TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr19:8155123_8155124delCT ENST00000600128.1 - 49 6457_6458 c.6043_6044delAG c.(6043-6045)tfs p.S2015fs FBN3_ENST00000601739.1_Frame_Shift_Del_p.S2015fs|FBN3_ENST00000270509.2_Frame_Shift_Del_p.S2015fs Q75N90 FBN3_HUMAN fibrillin 3 2015 TB 8. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GAAGCAGAAACTCTGCCGTGTG 0.619 24 29 --- --- --- --- PMEPA1 56937 broad.mit.edu 37 20 56227349 56227349 + Frame_Shift_Del DEL G G - TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9087f21-6e78-4358-99a9-9500177fc0b6 71bceed8-a75f-4ff6-bc1d-ab198b24c0aa g.chr20:56227349delG ENST00000341744.3 - 4 943 c.624delC c.(622-624)ccfs p.P208fs PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 208 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 AGTTACTGCTGGGGGGGCAGG 0.682 29 67 --- --- --- ---