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 CROCC 9696 broad.mit.edu 37 1 17295800 17295800 + Missense_Mutation SNP C C G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr1:17295800C>G ENST00000375541.5 + 32 5335 c.5266C>G c.(5266-5268)Ctg>Gtg p.L1756V NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1756 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.L1756V(1) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCAGAAGGCTCTGACCGCCTG 0.652 7 12 --- --- --- --- PCSK9 255738 broad.mit.edu 37 1 55521763 55521763 + Silent SNP C C T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr1:55521763C>T ENST00000302118.5 + 6 1187 c.897C>T c.(895-897)gcC>gcT p.A299A PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.A99A NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 299 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.A299A(1) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 TCCTCAACGCCGCCTGCCAGC 0.692 3 11 --- --- --- --- TRIM45 80263 broad.mit.edu 37 1 117661174 117661174 + Missense_Mutation SNP C C A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr1:117661174C>A ENST00000256649.4 - 2 1230 c.704G>T c.(703-705)gGg>gTg p.G235V TRIM45_ENST00000369464.3_Missense_Mutation_p.G235V|TRIM45_ENST00000369461.3_Missense_Mutation_p.G178V NM_025188.3 NP_079464.2 Q9H8W5 TRI45_HUMAN tripartite motif containing 45 235 cytoplasm|nucleus zinc ion binding p.G235V(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1) 23 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) CACAGAGTCCCCATGCTTGTG 0.577 4 148 --- --- --- --- RGS5 8490 broad.mit.edu 37 1 163122355 163122355 + Silent SNP C C T rs150796534 TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr1:163122355C>T ENST00000313961.5 - 4 646 c.369G>A c.(367-369)acG>acA p.T123T RGS5_ENST00000527988.1_Silent_p.T15T|RGS5_ENST00000530507.1_Silent_p.T123T|RGS5_ENST00000367903.3_Silent_p.T143T NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 123 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.T123T(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) TAGGAGCCTCCGTTTGAATGA 0.473 126 555 --- --- --- --- KYNU 8942 broad.mit.edu 37 2 143712411 143712411 + Missense_Mutation SNP G G T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr2:143712411G>T ENST00000264170.4 + 5 664 c.406G>T c.(406-408)Gct>Tct p.A136S KYNU_ENST00000375773.2_Missense_Mutation_p.A136S|KYNU_ENST00000409512.1_Missense_Mutation_p.A136S NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 136 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity p.A136S(2) large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) CCTAATGAATGCTTTGACTGT 0.284 4 144 --- --- --- --- USP37 57695 broad.mit.edu 37 2 219353102 219353102 + Silent SNP G G T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr2:219353102G>T ENST00000258399.3 - 15 1927 c.1515C>A c.(1513-1515)ctC>ctA p.L505L USP37_ENST00000418019.1_Silent_p.L505L|USP37_ENST00000415516.1_Silent_p.L433L|USP37_ENST00000454775.1_Silent_p.L505L NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 505 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.L505L(2) NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) GGTCAATAGAGAGGTCATTAA 0.338 22 151 --- --- --- --- DZIP3 9666 broad.mit.edu 37 3 108347996 108347996 + Silent SNP A A G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr3:108347996A>G ENST00000361582.3 + 8 899 c.669A>G c.(667-669)gaA>gaG p.E223E DZIP3_ENST00000463306.1_Silent_p.E223E NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 223 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding p.E223E(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 ATCCTACAGAAGATGAAGATT 0.289 15 168 --- --- --- --- PACRGL 133015 broad.mit.edu 37 4 20714532 20714532 + Missense_Mutation SNP T T A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr4:20714532T>A ENST00000360916.5 + 6 879 c.488T>A c.(487-489)cTa>cAa p.L163Q PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000503585.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000295290.8_Missense_Mutation_p.L163Q|PACRGL_ENST00000502374.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.L163Q NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like 163 binding p.L163Q(1) endometrium(2)|lung(7)|prostate(1) 10 ATTCCTGTGCTAAAGGCAGCT 0.333 57 362 --- --- --- --- PRSS48 345062 broad.mit.edu 37 4 152212529 152212529 + Missense_Mutation SNP G G A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr4:152212529G>A ENST00000455694.2 + 5 913 c.911G>A c.(910-912)gGc>gAc p.G304D SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.G161D NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 304 proteolysis extracellular region serine-type endopeptidase activity p.G304D(1)|p.G313D(1) kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 CACAGAGTAGGCACTGTAGCT 0.502 5 141 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112418689 112418689 + Missense_Mutation SNP G G C TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr5:112418689G>C ENST00000302475.4 - 9 1645 c.1082C>G c.(1081-1083)gCt>gGt p.A361G MCC_ENST00000408903.3_Missense_Mutation_p.A551G|MCC_ENST00000515367.2_Missense_Mutation_p.A298G|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers 361 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 p.A361G(1)|p.A551G(1) 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) CAGGTGTTCAGCCACACTGCT 0.418 26 102 --- --- --- --- PCDHA13 56136 broad.mit.edu 37 5 140262046 140262046 + Missense_Mutation SNP C C T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr5:140262046C>T ENST00000289272.2 + 1 193 c.193C>T c.(193-195)Cgg>Tgg p.R65W PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R65W NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.R65W(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) GCGCCTGTTCCGGGTGGCGTC 0.617 9 265 --- --- --- --- ZSCAN31 64288 broad.mit.edu 37 6 28294582 28294582 + Silent SNP G G T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr6:28294582G>T ENST00000414429.1 - 8 1485 c.582C>A c.(580-582)atC>atA p.I194I ZSCAN31_ENST00000396838.2_Silent_p.I194I|ZSCAN31_ENST00000446474.1_Silent_p.I35I|ZSCAN31_ENST00000439158.1_Silent_p.I194I|ZSCAN31_ENST00000344279.6_Silent_p.I194I zinc finger and SCAN domain containing 31 p.I194I(1) TTTCTTTTAAGATTTCTTGCT 0.363 16 173 --- --- --- --- ZSCAN31 64288 broad.mit.edu 37 6 28294583 28294583 + Missense_Mutation SNP A A T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr6:28294583A>T ENST00000414429.1 - 8 1484 c.581T>A c.(580-582)aTc>aAc p.I194N ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I194N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.I35N|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I194N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I194N zinc finger and SCAN domain containing 31 p.I194N(1) TTCTTTTAAGATTTCTTGCTT 0.363 16 172 --- --- --- --- PRPH2 5961 broad.mit.edu 37 6 42689807 42689807 + Missense_Mutation SNP G G T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr6:42689807G>T ENST00000230381.5 - 1 505 c.266C>A c.(265-267)gCc>gAc p.A89D NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 89 cell adhesion|visual perception integral to membrane p.A89D(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) GGCATACTTGGCTGGGTCCAG 0.537 17 106 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52897365 52897365 + Missense_Mutation SNP T T G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr6:52897365T>G ENST00000356971.3 - 5 733 c.244A>C c.(244-246)Atg>Ctg p.M82L ICK_ENST00000350082.5_Missense_Mutation_p.M82L NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 82 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding p.M82L(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TTTTCCTTCATGTACTCGAAG 0.323 16 68 --- --- --- --- C7orf63 79846 broad.mit.edu 37 7 89906575 89906575 + Missense_Mutation SNP A A G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr7:89906575A>G ENST00000389297.4 + 11 1333 c.1082A>G c.(1081-1083)tAt>tGt p.Y361C C7orf63_ENST00000497910.1_Missense_Mutation_p.Y343C|C7orf63_ENST00000316089.8_Missense_Mutation_p.Y361C NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 361 binding p.Y361C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TCTAATTCCTATGAAGATTTT 0.299 5 90 --- --- --- --- PTPRZ1 5803 broad.mit.edu 37 7 121652283 121652283 + Silent SNP G G A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr7:121652283G>A ENST00000393386.2 + 12 3594 c.3183G>A c.(3181-3183)gaG>gaA p.E1061E PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1061 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.E1061E(3) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CTTTCAATGAGATGGTTTACC 0.348 32 195 --- --- --- --- SLC39A14 23516 broad.mit.edu 37 8 22265850 22265850 + Missense_Mutation SNP G G A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr8:22265850G>A ENST00000359741.5 + 3 473 c.298G>A c.(298-300)Gcc>Acc p.A100T SLC39A14_ENST00000289952.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A100T|SLC39A14_ENST00000381237.1_Missense_Mutation_p.A100T NM_015359.4 NP_056174.2 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 100 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity p.A100T(1) NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) CCTCTTCACTGCCCACAATTT 0.587 5 146 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41800403 41800403 + Missense_Mutation SNP A A C TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr8:41800403A>C ENST00000396930.3 - 15 2887 c.2344T>G c.(2344-2346)Tcc>Gcc p.S782A KAT6A_ENST00000265713.2_Missense_Mutation_p.S782A|KAT6A_ENST00000406337.1_Missense_Mutation_p.S782A|KAT6A_ENST00000485568.1_Missense_Mutation_p.S782A NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 782 Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding p.S782A(2) ACAGAGTTGGACACTATGACT 0.488 14 213 --- --- --- --- TJP2 9414 broad.mit.edu 37 9 71841089 71841089 + Missense_Mutation SNP A A G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr9:71841089A>G ENST00000377245.4 + 7 1416 c.1208A>G c.(1207-1209)gAa>gGa p.E403G TJP2_ENST00000539225.1_Missense_Mutation_p.E434G|TJP2_ENST00000453658.2_Missense_Mutation_p.E380G|TJP2_ENST00000265384.7_Missense_Mutation_p.E403G|TJP2_ENST00000535702.1_Missense_Mutation_p.E407G|TJP2_ENST00000348208.4_Missense_Mutation_p.E403G NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 403 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding p.E403G(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 TCAGAAATAGAAGGTAAAGGA 0.433 11 53 --- --- --- --- ZBTB34 403341 broad.mit.edu 37 9 129642273 129642273 + Nonsense_Mutation SNP C C T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr9:129642273C>T ENST00000319119.4 + 2 680 c.595C>T c.(595-597)Cag>Tag p.Q199* ZBTB34_ENST00000373452.2_Nonsense_Mutation_p.Q195* NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q199*(1)|p.Q195*(1) endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 CAGCCGCTTACAGGAGGAGGG 0.582 16 83 --- --- --- --- DHX32 55760 broad.mit.edu 37 10 127525312 127525312 + Nonsense_Mutation SNP C C A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr10:127525312C>A ENST00000284690.3 - 11 2666 c.2176G>T c.(2176-2178)Gaa>Taa p.E726* BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Nonsense_Mutation_p.E350*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Nonsense_Mutation_p.E645* NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 726 mitochondrion|nucleus ATP binding|helicase activity p.E726*(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) ATTTGCTGTTCCTTATTCATT 0.473 11 90 --- --- --- --- OR5R1 219479 broad.mit.edu 37 11 56185673 56185673 + Missense_Mutation SNP G G T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr11:56185673G>T ENST00000312253.1 - 1 35 c.36C>A c.(34-36)ttC>ttA p.F12L NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F12L(1) 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) CTTTCAGAATGAATACAGTGA 0.398 6 235 --- --- --- --- HRASLS5 117245 broad.mit.edu 37 11 63235886 63235886 + Missense_Mutation SNP A A T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr11:63235886A>T ENST00000540857.1 - 4 529 c.397T>A c.(397-399)Tat>Aat p.Y133N HRASLS5_ENST00000301790.4_Missense_Mutation_p.Y143N|HRASLS5_ENST00000539221.1_Missense_Mutation_p.Y143N NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 143 p.Y143N(1) endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 CAGTGCTCATAGCCAATTCGA 0.418 7 180 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102742648 102742648 + RNA SNP C C A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr11:102742648C>A ENST00000532855.1 - 0 481 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.D129Y(1) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TAGTCAACATCCTCACGGTTC 0.393 10 44 --- --- --- --- HINFP 25988 broad.mit.edu 37 11 119002676 119002676 + Silent SNP C C G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr11:119002676C>G ENST00000350777.2 + 5 723 c.660C>G c.(658-660)cgC>cgG p.R220R HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.R220R NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 220 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding p.R220R(2) endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 ACATCCGTCGCCAGACCTCAT 0.557 21 120 --- --- --- --- MYH6 4624 broad.mit.edu 37 14 23862693 23862693 + Missense_Mutation SNP T T C TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr14:23862693T>C ENST00000405093.3 - 23 3033 c.2963A>G c.(2962-2964)gAt>gGt p.D988G MYH6_ENST00000356287.3_Missense_Mutation_p.D988G NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 988 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.D988G(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GATGATTTCATCCAGCCCAGC 0.527 61 253 --- --- --- --- C14orf178 283579 broad.mit.edu 37 14 78227450 78227450 + Missense_Mutation SNP A A G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr14:78227450A>G ENST00000355883.3 + 1 274 c.65A>G c.(64-66)cAa>cGa p.Q22R C14orf178_ENST00000439131.2_5'UTR|SNW1_ENST00000261531.7_Intron|C14orf178_ENST00000556047.1_Missense_Mutation_p.Q22R|C14orf178_ENST00000557011.1_Missense_Mutation_p.Q22R|SNW1_ENST00000555761.1_Intron|SNW1_ENST00000554775.1_Intron NM_174943.3 NP_777603.1 Q8N769 CN178_HUMAN chromosome 14 open reading frame 178 22 p.Q22R(1)|p.?(1) large_intestine(1)|lung(2)|ovary(1)|prostate(1) 5 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) CCCAATCAACAACCCACCTGG 0.587 19 98 --- --- --- --- CKB 1152 broad.mit.edu 37 14 103986922 103986922 + Missense_Mutation SNP C C A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr14:103986922C>A ENST00000348956.2 - 6 1018 c.661G>T c.(661-663)Gac>Tac p.D221Y NM_001823.4 NP_001814.2 P12277 KCRB_HUMAN creatine kinase, brain 221 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity p.D221Y(1) lung(2)|prostate(1) 3 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) GTCTTATTGTCATTGTGCCTG 0.597 3 33 --- --- --- --- JAG2 3714 broad.mit.edu 37 14 105622204 105622204 + Missense_Mutation SNP C C T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr14:105622204C>T ENST00000331782.3 - 4 1001 c.598G>A c.(598-600)Gag>Aag p.E200K RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.E200K NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 200 DSL. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding p.E200K(2) breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TAGTAGTTCTCGTCGCAGCGC 0.627 6 23 --- --- --- --- TMOD2 29767 broad.mit.edu 37 15 52058730 52058730 + Missense_Mutation SNP A A G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr15:52058730A>G ENST00000249700.4 + 2 313 c.92A>G c.(91-93)cAg>cGg p.Q31R TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.Q31R NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) 31 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding p.Q31R(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) GAACTGAAACAGTTGGAAAAT 0.418 29 132 --- --- --- --- ONECUT1 3175 broad.mit.edu 37 15 53081026 53081026 + Missense_Mutation SNP C C A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr15:53081026C>A ENST00000305901.5 - 1 1183 c.1056G>T c.(1054-1056)aaG>aaT p.K352N ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 352 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding p.K352N(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) CCTGCAGCCACTTCCACATCC 0.657 20 62 --- --- --- --- CLDN9 9080 broad.mit.edu 37 16 3063524 3063524 + Missense_Mutation SNP G G C TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr16:3063524G>C ENST00000445369.2 + 1 1068 c.161G>C c.(160-162)tGc>tCc p.C54S NM_020982.3 NP_066192.1 O95484 CLD9_HUMAN claudin 9 54 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity p.C54S(1) endometrium(2)|large_intestine(1)|lung(5)|prostate(2) 10 TGGATGTCCTGCGTGGTGCAG 0.657 24 130 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373986 27373986 + Missense_Mutation SNP G G T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr16:27373986G>T ENST00000395762.2 + 11 1572 c.1313G>T c.(1312-1314)aGt>aTt p.S438I IL4R_ENST00000543915.2_Missense_Mutation_p.S438I|IL4R_ENST00000380922.3_Missense_Mutation_p.S423I|IL4R_ENST00000170630.2_Missense_Mutation_p.S438I NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 438 Required for IRS1 activation and IL4- induced cell growth. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity p.S438I(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CCTTCGGGAAGTACGAGTGCT 0.612 35 141 --- --- --- --- PLCB4 5332 broad.mit.edu 37 20 9364889 9364889 + Missense_Mutation SNP G G A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr20:9364889G>A ENST00000378501.2 + 11 910 c.895G>A c.(895-897)Gat>Aat p.D299N PLCB4_ENST00000334005.3_Missense_Mutation_p.D299N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D299N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D299N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D299N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D299N NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 299 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.D299N(2) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TCTGATGTCAGATGAAAACGC 0.408 12 226 --- --- --- --- TRAPPC10 7109 broad.mit.edu 37 21 45523339 45523339 + Missense_Mutation SNP A A G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr21:45523339A>G ENST00000291574.4 + 23 3882 c.3707A>G c.(3706-3708)aAc>aGc p.N1236S NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 1236 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.N1236S(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 CAGGTCTTCAACTCCAGCTCG 0.622 7 39 --- --- --- --- GNB1L 54584 broad.mit.edu 37 22 19808139 19808139 + Missense_Mutation SNP T T G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chr22:19808139T>G ENST00000329517.6 - 4 472 c.236A>C c.(235-237)cAg>cCg p.Q79P GNB1L_ENST00000405009.1_Missense_Mutation_p.Q79P|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.Q79P NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 79 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular p.Q79P(1) breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) CTGGCGCCCCTGGGGCAGCGT 0.657 5 68 --- --- --- --- TEX13B 56156 broad.mit.edu 37 X 107225170 107225170 + Missense_Mutation SNP A A G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chrX:107225170A>G ENST00000302917.1 - 2 280 c.188T>C c.(187-189)gTc>gCc p.V63A NM_031273.2 NP_112563.1 Q9BXU2 TX13B_HUMAN testis expressed 13B 63 p.V63A(2) breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 GGCCTCTTTGACCTCGCTGGG 0.597 16 171 --- --- --- --- GPR50 9248 broad.mit.edu 37 X 150348254 150348254 + Missense_Mutation SNP G G A TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chrX:150348254G>A ENST00000218316.3 + 2 268 c.199G>A c.(199-201)Gtg>Atg p.V67M NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 67 cell-cell signaling integral to plasma membrane melatonin receptor activity p.V67M(3) breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CAACATCTTCGTGGTCAGTCT 0.483 16 437 --- --- --- --- MT-ATP6 4508 broad.mit.edu 37 M 8802 8802 + Silent SNP T T C TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chrM:8802T>C ENST00000361899.2 + 1 276 c.276T>C c.(274-276)ttT>ttC p.F92F mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 CCTCACTCATTTACACCAACC 0.438 5 62 --- --- --- --- MT-ND5 4540 broad.mit.edu 37 M 13464 13464 + Silent SNP C C T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bd30acf-01c3-4c96-a016-63e8dce66217 316ecb66-2802-4972-9bdc-f11fd7f67801 g.chrM:13464C>T ENST00000361567.2 + 1 1128 c.1128C>T c.(1126-1128)ggC>ggT p.G376G P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 376 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CTCACCATTGGCAGCCTAGCA 0.448 5 75 --- --- --- ---