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 RSAD2 91543 broad.mit.edu 37 2 7030377 7030377 + Missense_Mutation SNP T T C TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr2:7030377T>C ENST00000382040.3 + 4 945 c.809T>C c.(808-810)gTt>gCt p.V270A RSAD2_ENST00000541728.1_Missense_Mutation_p.V163A NM_080657.4 NP_542388.2 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 2 270 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1) 20 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) GAAAGATTTGTTATTGGTGAT 0.413000 4 84 0 0 1 0 0 CARD16 114769 broad.mit.edu 37 11 104915359 104915359 + Missense_Mutation SNP G G T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr11:104915359G>T ENST00000375706.2 - 2 51 c.34C>A c.(34-36)Ctg>Atg p.L12M CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.L12M|CARD16_ENST00000525374.1_Missense_Mutation_p.L12M NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 TGGATAAACAGCTTTCTCTTC 0.418000 21 220 1.55469e-16 2.0169e-16 1 1 0 IGLV3-27 0 broad.mit.edu 37 22 23011003 23011003 + RNA SNP G G T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr22:23011003G>T ENST00000390304.2 + 0 104 CCTCCTATGAGCTGACACAGC 0.562000 6 156 0.0293803 0.031339 1 1 0 RYR2 6262 broad.mit.edu 37 1 237664181 237664181 + Missense_Mutation SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr1:237664181G>A ENST00000366574.2 + 21 2691 c.2374G>A c.(2374-2376)Gtt>Att p.V792I RYR2_ENST00000542537.1_Missense_Mutation_p.V776I|RYR2_ENST00000360064.6_Missense_Mutation_p.V790I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 792 B30.2/SPRY 1. 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) CTTTCCAGTCGTTAGTTTCTC 0.413000 4 72 0 0 1 0 0 PRMT3 10196 broad.mit.edu 37 11 20409624 20409624 + Nonsense_Mutation SNP G G T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr11:20409624G>T ENST00000331079.6 + 2 305 c.88G>T c.(88-90)Gag>Tag p.E30* PRMT3_ENST00000437750.2_Intron NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 30 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 CAGCGGGGACGAGGCCGCCTG 0.647000 7 53 2.0095e-06 2.35258e-06 1 1 0 GAD2 2572 broad.mit.edu 37 10 26559616 26559616 + Silent SNP C C T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr10:26559616C>T ENST00000376261.3 + 10 1526 c.1023C>T c.(1021-1023)taC>taT p.Y341Y GAD2_ENST00000259271.3_Silent_p.Y341Y NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 341 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CCACCGTGTACGGAGCATTTG 0.478000 15 154 0 0 1 0 0 POLDIP3 84271 broad.mit.edu 37 22 42981905 42981905 + Silent SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr22:42981905G>A ENST00000252115.5 - 9 1262 c.1158C>T c.(1156-1158)tcC>tcT p.S386S POLDIP3_ENST00000348657.2_Silent_p.S357S|POLDIP3_ENST00000451060.2_3'UTR|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 386 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 GGGGGTTGGAGGAGGAGGCAG 0.557000 3 60 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr8:12957624C>G ENST00000276297.4 - 9 2631 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 3 40 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366047 7366047 + Missense_Mutation SNP A A C TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr17:7366047A>C ENST00000311403.4 - 4 2593 c.2254T>G c.(2254-2256)Tcc>Gcc p.S752A ZBTB4_ENST00000380599.4_Missense_Mutation_p.S752A NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 752 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) GAGCTGTGGGAGCCCCCACCG 0.701000 4 83 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 118 0 0 1 0 0 ZNF584 201514 broad.mit.edu 37 19 58927216 58927216 + Missense_Mutation SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr19:58927216G>A ENST00000599238.1 + 4 680 c.214G>A c.(214-216)Gtc>Atc p.V72I ZNF584_ENST00000593920.1_Intron|ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.R100H|ZNF584_ENST00000306910.4_Intron Q8IVC4 ZN584_HUMAN zinc finger protein 584 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) TCTGGCCTGCGTCTCCTCATT 0.488000 4 50 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107816881 107816881 + Missense_Mutation SNP C C A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr7:107816881C>A ENST00000379028.3 - 27 3615 c.3145G>T c.(3145-3147)Gat>Tat p.D1049Y NRCAM_ENST00000413765.2_Missense_Mutation_p.D1030Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D1049Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D1033Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.D1049Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D1030Y Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1049 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TTACCTTCATCCACAGTTGTT 0.308000 6 111 2.0095e-06 2.35258e-06 1 1 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 6 58 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47163454 47163454 + Missense_Mutation SNP T T A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr3:47163454T>A ENST00000409792.3 - 3 2714 c.2672A>T c.(2671-2673)aAg>aTg p.K891M NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 891 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ACTGTCCACCTTTATTCCTGG 0.388000 """N, F, S, Mis""" clear cell renal carcinoma 13 82 0 0 1 0 0 CHCHD2 51142 broad.mit.edu 37 7 56172077 56172077 + Missense_Mutation SNP C C A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr7:56172077C>A ENST00000395422.3 - 2 304 c.142G>T c.(142-144)Gct>Tct p.A48S NM_016139.2 NP_057223.1 Q9Y6H1 CHCH2_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 2 48 mitochondrion endometrium(1)|large_intestine(1)|lung(3) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CGGGGCGCAGCAGCAGAAGAG 0.657000 3 21 2.56e-06 2.92571e-06 1 1 0 GINM1 116254 broad.mit.edu 37 6 149903651 149903651 + Missense_Mutation SNP C C G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr6:149903651C>G ENST00000367419.5 + 7 914 c.793C>G c.(793-795)Cag>Gag p.Q265E NM_138785.3 NP_620140.1 glycoprotein integral membrane 1 p.Q265*(1) AGTATTCTTTCAGTTTTTGAA 0.363000 13 148 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203463 56203463 + Missense_Mutation SNP G G C TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr18:56203463G>C ENST00000361673.3 - 5 4169 c.3956C>G c.(3955-3957)cCc>cGc p.P1319R RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1319 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ACTGATGGTGGGCTCTTCGCC 0.517000 3 90 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57535038 57535038 + Missense_Mutation SNP A A G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr1:57535038A>G ENST00000371236.2 - 8 921 c.658T>C c.(658-660)Tat>Cat p.Y220H DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.Y220H|DAB1_ENST00000371234.4_Missense_Mutation_p.Y220H|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 220 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TATACCTGATAAATGTTTTCT 0.423000 4 143 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26094525 26094525 + RNA SNP T T C rs62211580 by1000genomes TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr20:26094525T>C ENST00000478176.1 - 0 139 NR_003678.1 p.H33R(1) CTGCTGGTGGTGGGTGCTGGG 0.393000 3 19 0 0 1 0 0 ZNF546 339327 broad.mit.edu 37 19 40521135 40521135 + Missense_Mutation SNP C C T rs111889850 byFrequency TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr19:40521135C>T ENST00000347077.4 + 7 2174 c.1958C>T c.(1957-1959)aCg>aTg p.T653M ZNF546_ENST00000600094.1_Missense_Mutation_p.T627M|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 653 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACTCATCTCACGCAACATCAC 0.418000 5 67 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 7 40 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17743610 17743610 + Missense_Mutation SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr19:17743610G>A ENST00000428389.2 - 29 3672 c.3673C>T c.(3673-3675)Cgc>Tgc p.R1225C UNC13A_ENST00000519716.2_Missense_Mutation_p.R1137C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1137C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1135C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1137C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1137C Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1137 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TCAGGCACGCGGTCCTTGAAG 0.542000 4 81 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17548935 17548935 + Silent SNP C C A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr1:17548935C>A ENST00000375471.4 + 2 335 c.243C>A c.(241-243)ggC>ggA p.G81G NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 81 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TATCTGTGGGCACAGCCAGTA 0.517000 7 116 0.00621372 0.0067786 1 1 0 PCDHGC3 0 broad.mit.edu 37 5 140857775 140857775 + Missense_Mutation SNP C C G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr5:140857775C>G ENST00000308177.3 + 1 2196 c.2092C>G c.(2092-2094)Cta>Gta p.L698V PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTCTTTCTCTAATCCTGGT 0.498000 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 299 0 0 1 0 0 ERV3-1 0 broad.mit.edu 37 7 64453295 64453295 + Missense_Mutation SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr7:64453295G>A ENST00000394323.2 - 2 610 c.110C>T c.(109-111)tCg>tTg p.S37L NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 37 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 gatgttccccgaccacgtagt 0.478000 4 80 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276100 186276100 + Missense_Mutation SNP A A C TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr1:186276100A>C ENST00000445192.2 + 7 1294 c.1249A>C c.(1249-1251)Acc>Ccc p.T417P PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 417 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T417P(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.652000 7 56 0 0 1 0 0 KRTAP3-1 83896 broad.mit.edu 37 17 39165307 39165307 + Missense_Mutation SNP C C T rs141325742 byFrequency TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr17:39165307C>T ENST00000391588.1 - 1 59 c.20G>A c.(19-21)cGc>cAc p.R7H KRTAP3-1_ENST00000581033.1_Intron NM_031958.1 NP_114164.1 Q9BYR8 KRA31_HUMAN keratin associated protein 3-1 7 4 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00043) GCTGCAGGAGCGGAGAGCACA 0.552000 10 108 0 0 1 0 0 KLHL42 57542 broad.mit.edu 37 12 27934042 27934042 + Missense_Mutation SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr12:27934042G>A ENST00000381271.2 + 1 1090 c.779G>A c.(778-780)gGg>gAg p.G260E NM_020782.1 NP_065833.1 kelch-like family member 42 ATAGTGGGCGGGTACAGGATC 0.582000 3 41 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309107 248309107 + Nonsense_Mutation SNP C C T rs41305578 byFrequency TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr1:248309107C>T ENST00000366476.1 + 1 658 c.658C>T c.(658-660)Cga>Tga p.R220* NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 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;0.0388) TTCCTATGCTCGAGTTATTCT 0.428000 6 311 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26672885 26672885 + Missense_Mutation SNP C C G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr2:26672885C>G ENST00000288710.2 + 12 1605 c.1531C>G c.(1531-1533)Ctg>Gtg p.L511V NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) AGAGAGCAAGCTGCTGAGCCT 0.607000 4 34 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86374058 86374058 + Missense_Mutation SNP C C T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr12:86374058C>T ENST00000604798.1 - 8 1650 c.446G>A c.(445-447)cGt>cAt p.R149H MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 149 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding p.R149H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CATGGCATCACGCCAGGAAGA 0.398000 7 77 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95610657 95610657 + Missense_Mutation SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr9:95610657G>A ENST00000395505.2 - 3 396 c.304C>T c.(304-306)Cgt>Tgt p.R102C ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.R140C|ZNF484_ENST00000375495.3_Missense_Mutation_p.R138C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102C NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R138C(2) NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 AAGACAACACGACTTAAAGGT 0.368000 6 126 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50957350 50957350 + Missense_Mutation SNP C C T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr19:50957350C>T ENST00000357701.5 + 17 1874 c.1823C>T c.(1822-1824)gCg>gTg p.A608V NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 608 Ig-like C2-type 5. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) ATTGAGAGTGCGCAGCGGGAA 0.602000 4 20 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124267245 124267245 + Silent SNP A A G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr8:124267245A>G ENST00000395571.3 - 3 1559 c.942T>C c.(940-942)atT>atC p.I314I ZHX1_ENST00000522655.1_Silent_p.I314I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Silent_p.I314I NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 314 Required for dimerization.|Required for interaction with NFYA. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AAAGAACTGTAATTTCTGACA 0.403000 8 274 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181708366 181708366 + Silent SNP C C A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr1:181708366C>A ENST00000526775.1 + 24 3804 c.3639C>A c.(3637-3639)ggC>ggA p.G1213G CACNA1E_ENST00000357570.5_Silent_p.G1183G|CACNA1E_ENST00000358338.5_Silent_p.G1164G|CACNA1E_ENST00000367567.4_Silent_p.G839G|CACNA1E_ENST00000367573.2_Silent_p.G1232G|CACNA1E_ENST00000367570.1_Silent_p.G1232G|CACNA1E_ENST00000360108.3_Silent_p.G1213G NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1232 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 TGGTCGTTGGCGCATTGGTGG 0.493000 5 154 0.000602214 0.000672239 1 1 0 SESTD1 91404 broad.mit.edu 37 2 180008456 180008456 + Missense_Mutation SNP C C A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr2:180008456C>A ENST00000428443.3 - 9 1028 c.712G>T c.(712-714)Gat>Tat p.D238Y NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 238 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) AGTTCATCATCCATAGGAGAC 0.428000 5 91 1.024e-07 1.29347e-07 1 1 0 DSCAML1 57453 broad.mit.edu 37 11 117332280 117332280 + Silent SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr11:117332280G>A ENST00000321322.6 - 18 3479 c.3478C>T c.(3478-3480)Ctg>Ttg p.L1160L DSCAML1_ENST00000527706.1_Silent_p.L890L NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1100 Fibronectin type-III 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTGATGGACAGGGCCCGGACG 0.607000 3 89 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36582178 36582178 + Missense_Mutation SNP C C T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr19:36582178C>T ENST00000401500.2 + 17 2146 c.2111C>T c.(2110-2112)tCg>tTg p.S704L WDR62_ENST00000270301.7_Missense_Mutation_p.S704L NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 704 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GACTTTTACTCGGGCGAGTGC 0.582000 5 72 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 4 79 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33287278 33287278 + Missense_Mutation SNP T T C TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr6:33287278T>C ENST00000374542.5 - 6 2023 c.1819A>G c.(1819-1821)Atg>Gtg p.M607V DAXX_ENST00000414083.2_Missense_Mutation_p.M532V|DAXX_ENST00000266000.6_Missense_Mutation_p.M607V NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 607 Interaction with MAP3K5. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GAAGAGACCATGCCTGCTCCA 0.522000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 6 71 0 0 1 0 0 TARBP2 6895 broad.mit.edu 37 12 53897517 53897517 + Missense_Mutation SNP C C G TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr12:53897517C>G ENST00000266987.2 + 4 830 c.347C>G c.(346-348)tCt>tGt p.S116C TARBP2_ENST00000394357.2_Missense_Mutation_p.S95C|TARBP2_ENST00000456234.2_Missense_Mutation_p.S95C|TARBP2_ENST00000552857.1_Missense_Mutation_p.S25C NM_134323.1 NP_599150.1 Q15633 TRBP2_HUMAN TAR (HIV-1) RNA binding protein 2 116 miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3) 10 CCCCTAGACTCTTCACTGCCT 0.557000 5 127 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73565668 73565668 + Missense_Mutation SNP G G T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr10:73565668G>T ENST00000224721.6 + 55 7998 c.7993G>T c.(7993-7995)Gac>Tac p.D2665Y CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.D420Y NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2660 Cadherin 25. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGGCAACCGGGACTGGGAGTT 0.652000 3 31 1 1 1 1 0 MYH2 4620 broad.mit.edu 37 17 10442558 10442558 + Silent SNP G G T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr17:10442558G>T ENST00000245503.5 - 14 1764 c.1380C>A c.(1378-1380)atC>atA p.I460I MYH2_ENST00000397183.2_Silent_p.I460I|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.I460I NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 460 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.I460M(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CCAAGACCCCGATGAAGTACT 0.478000 7 196 2.27111e-07 2.79521e-07 1 1 0 LHX1 3975 broad.mit.edu 37 17 35295534 35295534 + Missense_Mutation SNP C C A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr17:35295534C>A ENST00000254457.5 + 1 1451 c.40C>A c.(40-42)Cgc>Agc p.R14S NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 14 LIM zinc-binding 1. cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) CATCCTGGACCGCTTTCTCTT 0.567000 3 88 0.150653 0.157204 1 1 0 SLIT1 6585 broad.mit.edu 37 10 98806792 98806792 + Silent SNP C C T TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr10:98806792C>T ENST00000266058.4 - 17 1910 c.1665G>A c.(1663-1665)ctG>ctA p.L555L ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.L555L NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 555 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CAGTGGCCTCCAGGATGGAAA 0.423000 5 53 0 0 1 0 0 GPR84 0 broad.mit.edu 37 12 54757587 54757587 + Silent SNP G G A TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr12:54757587G>A ENST00000551809.1 - 1 684 c.49C>T c.(49-51)Ctg>Ttg p.L17L GPR84_ENST00000267015.3_Silent_p.L17L|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 17 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 CGATAGCCCAGCACAGACTCA 0.557000 3 39 0 0 1 0 0 KLHL8 57563 broad.mit.edu 37 4 88116634 88116634 + Frame_Shift_Del DEL T T - TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr4:88116634delT ENST00000273963.5 - 2 399 c.58delA c.(58-60)ggfs p.R20fs KLHL8_ENST00000512111.1_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000425278.2_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000498875.2_Frame_Shift_Del_p.R20fs NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 20 breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TGTTGTTGCCTTTTCCCCTTT 0.363 7 230 --- --- --- --- FABP2 2169 broad.mit.edu 37 4 120240226 120240226 + Frame_Shift_Del DEL T T - TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr4:120240226delT ENST00000274024.3 - 4 656 c.369delA c.(367-369)gtfs p.V123fs NM_000134.3 NP_000125.2 P12104 FABPI_HUMAN fatty acid binding protein 2, intestinal 123 fatty acid binding breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 8 TTTTGGCTTCTACTCCTTCAT 0.294 14 161 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369721 100369721 + RNA DEL T T - TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr7:100369721delT ENST00000542585.1 + 0 5573 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ctctaaattcttttttttttt 0.532 2 4 --- --- --- --- GRIN1 2902 broad.mit.edu 37 9 140056884 140056886 + In_Frame_Del DEL GAG GAG - TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr9:140056884_140056886delGAG ENST00000371561.3 + 13 2877_2879 c.1780_1782delGAG c.(1780-1782)del p.E598del GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 598 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGTGAACAGCGAGGAGGAGGAGG 0.739 8 53 --- --- --- --- RNF208 727800 broad.mit.edu 37 9 140115423 140115424 + Frame_Shift_Ins INS - - C TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr9:140115423_140115424insC ENST00000392827.1 - 2 409_410 c.241_242insG c.(241-243)catfs p.H81fs RNF208_ENST00000391553.1_Frame_Shift_Ins_p.H81fs Q9H0X6 RN208_HUMAN ring finger protein 208 81 zinc ion binding lung(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GGCAGGCATGTCCCCCCCACAG 0.688 2 4 --- --- --- --- C11orf95 65998 broad.mit.edu 37 11 63531514 63531516 + RNA DEL CTC CTC - TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr11:63531514_63531516delCTC ENST00000433688.1 - 0 1597_1599 C9JLR9 CK095_HUMAN chromosome 11 open reading frame 95 intracellular zinc ion binding GCTCACCCCActcctcctcctcc 0.714 2 4 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12155304 12155305 + Frame_Shift_Del DEL TT TT - TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr19:12155304_12155305delTT ENST00000602107.1 - 5 1051_1052 c.1052_1053delAA c.(1051-1053)afs p.K351fs CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Del_p.K304fs C9JN71 ZN878_HUMAN zinc finger protein 878 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CTCCAGTGTGTTTTCTTTCATG 0.416 9 107 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085465 11085467 + RNA DEL ACT ACT - rs10446208 by1000genomes TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241 906dec9a-0452-40a1-8563-163ca6be1abf g.chr21:11085465_11085467delACT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caccactaccactaccaccacca 0.532 4 7 --- --- --- ---