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 DMAP1 55929 broad.mit.edu 37 1 44680509 44680509 + Missense_Mutation SNP T T G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr1:44680509T>G ENST00000372289.2 + 3 595 c.332T>G c.(331-333)tTc>tGc p.F111C DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C|DMAP1_ENST00000361745.6_Missense_Mutation_p.F111C|DMAP1_ENST00000488433.1_3'UTR NM_019100.4 NP_061973.1 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 111 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(166;0.155) GGAGCAATGTTCTTCCACTGG 0.572000 6 63 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48591894 48591894 + Missense_Mutation SNP T T A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr18:48591894T>A ENST00000342988.3 + 9 1595 c.1057T>A c.(1057-1059)Tac>Aac p.Y353N SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 353 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGTTGATGGATACGTGGACCC 0.438000 25 42 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 3 83 6.4e-05 7.23478e-05 1 1 0 ERBB4 2066 broad.mit.edu 37 2 212288967 212288967 + Nonsense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr2:212288967G>A ENST00000342788.4 - 23 3089 c.2779C>T c.(2779-2781)Cga>Tga p.R927* ERBB4_ENST00000402597.1_Nonsense_Mutation_p.R917*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.R927* NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 927 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GGGATTTCTCGCGTTGGAATT 0.388000 TSP Lung(8;0.080) 16 44 0 0 1 0 0 RPS11 6205 broad.mit.edu 37 19 50002830 50002830 + Missense_Mutation SNP C C A rs11549537 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr19:50002830C>A ENST00000270625.2 + 5 498 c.415C>A c.(415-417)Cgc>Agc p.R139S RPS11_ENST00000594493.1_Missense_Mutation_p.R60S|RPS11_ENST00000599561.1_3'UTR NM_001015.4 NP_001006.1 P62280 RS11_HUMAN ribosomal protein S11 139 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 7 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245) CAAGACAGTGCGCTTCAACGT 0.597000 3 66 1 1 1 1 0 NECAP1 25977 broad.mit.edu 37 12 8242592 8242592 + Silent SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr12:8242592A>G ENST00000339754.5 + 2 234 c.156A>G c.(154-156)aaA>aaG p.K52K NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 52 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) TCACTTCAAAAGGGAAGACTG 0.438000 3 124 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80626371 80626371 + Missense_Mutation SNP A A T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr6:80626371A>T ENST00000369816.4 - 6 1199 c.899T>A c.(898-900)aTa>aAa p.I300K NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 300 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) TCCATTTTCTATCATGAGTTG 0.358000 18 39 0 0 1 0 0 P2RY4 5030 broad.mit.edu 37 X 69479042 69479042 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chrX:69479042G>A ENST00000374519.2 - 1 612 c.433C>T c.(433-435)Cgc>Tgc p.R145C NM_002565.3 NP_002556.1 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 4 145 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(2)|endometrium(2)|large_intestine(8)|lung(6) 18 CGGCCCCAGCGTAGTGCCCGA 0.597000 3 19 0 0 1 0 0 CSNK1E 1454 broad.mit.edu 37 22 38695932 38695932 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr22:38695932G>A ENST00000396832.1 - 6 964 c.704C>T c.(703-705)aCg>aTg p.T235M CSNK1E_ENST00000413574.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000405675.3_Missense_Mutation_p.T235M|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000359867.3_Missense_Mutation_p.T235M|CSNK1E_ENST00000400206.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000403904.1_Missense_Mutation_p.T235M NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 235 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) CTCGATGGGCGTTGACATCTT 0.597000 4 180 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132426987 132426987 + Missense_Mutation SNP G G A rs141758444 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr5:132426987G>A ENST00000304858.2 + 12 1770 c.1481G>A c.(1480-1482)aGt>aAt p.S494N NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 494 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGTGTGTCCAGTGCATCTTTA 0.423000 17 39 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 123 0 0 1 0 0 CTAG2 30848 broad.mit.edu 37 X 153881613 153881613 + Silent SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chrX:153881613G>A ENST00000247306.4 - 1 240 c.177C>T c.(175-177)ggC>ggT p.G59G CTAG2_ENST00000369585.3_Silent_p.G59G NM_020994.3 NP_066274.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 59 Gly-rich. centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCGCGGGGCGCCTCCTCTCG 0.756000 13 2 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24483975 24483975 + Splice_Site SNP C C A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr2:24483975C>A ENST00000355123.4 - 22 3125 c.2682_splice c.e22+1 p.Q894_splice ITSN2_ENST00000406921.3_Splice_Site_p.Q894_splice|ITSN2_ENST00000361999.3_Splice_Site_p.Q867_splice NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 894 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACAACATACCTGTCCATGAA 0.343000 3 59 1 1 1 1 0 EDC4 23644 broad.mit.edu 37 16 67909965 67909965 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr16:67909965G>A ENST00000358933.5 + 2 439 c.200G>A c.(199-201)cGg>cAg p.R67Q NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 67 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) ACTGGTCTTCGGACCATGCCA 0.532000 33 113 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30961160 30961160 + Splice_Site SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr2:30961160C>T ENST00000295055.8 - 17 1771 c.e17-1 CAPN13_ENST00000534090.2_Splice_Site NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CCTGGAGGTCCTGAGGAGAGA 0.597000 4 42 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277663 140277663 + Missense_Mutation SNP G G A rs137889465 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr3:140277663G>A ENST00000458420.3 + 12 2195 c.2005G>A c.(2005-2007)Gcc>Acc p.A669T NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 669 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.A669T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GAGCACCTTCGCCAAAACCGA 0.532000 HNSCC(16;0.037) 10 30 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175105 51175105 + Missense_Mutation SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr16:51175105A>G ENST00000440970.1 - 2 1168 c.737T>C c.(736-738)aTa>aCa p.I246T SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.I343T|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 343 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CGCTGCCAATATGTTCATATT 0.532000 5 143 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142840957 142840957 + Silent SNP C C G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr3:142840957C>G ENST00000309575.3 + 2 2683 c.1299C>G c.(1297-1299)gtC>gtG p.V433V NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 433 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 GAGACCCCGTCAAGACACTAC 0.597000 9 24 0 0 1 0 0 MBD6 0 broad.mit.edu 37 12 57918089 57918089 + Translation_Start_Site SNP G G T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr12:57918089G>T ENST00000355673.3 + 3 359 c.3G>T c.(1-3)atG>atT p.M1I MBD6_ENST00000431731.2_Start_Codon_SNP_p.M1I|MBD6_ENST00000549231.1_3'UTR NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 1 chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TACACACAATGAATGGGGGCA 0.572000 4 80 1.024e-07 1.21018e-07 1 1 0 TPTE2P6 0 broad.mit.edu 37 13 25171525 25171525 + RNA SNP G G T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr13:25171525G>T ENST00000453498.1 + 0 1421 CTATTCTTAGGCTTTATCTAC 0.353000 7 15 0.00198382 0.00214914 1 1 0 ANGPTL6 83854 broad.mit.edu 37 19 10203390 10203390 + Missense_Mutation SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr19:10203390C>T ENST00000253109.4 - 6 1526 c.1288G>A c.(1288-1290)Ggt>Agt p.G430S ANGPTL6_ENST00000592641.1_Missense_Mutation_p.G430S|C19orf66_ENST00000591813.1_3'UTR|C19orf66_ENST00000397881.3_3'UTR|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.G390S|C19orf66_ENST00000253110.11_3'UTR NM_031917.2 NP_114123.2 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 430 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1) 12 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) TGCCACACACCGTTGAGGTTG 0.607000 12 33 0 0 1 0 0 LINC00521 0 broad.mit.edu 37 14 94464557 94464557 + RNA SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr14:94464557A>G ENST00000444118.1 + 0 237 NR_024182.1 GGGCTGTGGCAGGAACTCTAC 0.592000 8 61 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320649 320649 + Silent SNP G G A rs11553885 by1000genomes TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr11:320649G>A ENST00000399808.4 - 1 401 c.165C>T c.(163-165)ccC>ccT p.P55P RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 55 response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P55P(5) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CGACATGGTCGGGCACGGAGG 0.637000 4 123 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40481653 40481653 + Missense_Mutation SNP A A C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr17:40481653A>C ENST00000264657.5 - 13 1464 c.1152T>G c.(1150-1152)ttT>ttG p.F384L STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000389272.3_Missense_Mutation_p.F286L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 384 F -> L (in AD-HIES).|F -> S (in AD-HIES). cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CCAGAATGTTAAATTTCCGGG 0.458000 Hyperimmunoglobulin E Recurrent Infection Syndrome 3 88 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110131650 110131650 + Missense_Mutation SNP G G T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr8:110131650G>T ENST00000518632.1 + 3 1514 c.1163G>T c.(1162-1164)tGc>tTc p.C388F TRHR_ENST00000311762.2_Missense_Mutation_p.C388F P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 388 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GATGACACCTGCTTGGCTTCT 0.413000 14 60 6.31663e-08 7.63871e-08 1 1 0 GSDMB 55876 broad.mit.edu 37 17 38073351 38073351 + Silent SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr17:38073351C>T ENST00000394175.2 - 1 442 c.219G>A c.(217-219)ctG>ctA p.L73L GSDMB_ENST00000309481.7_Silent_p.L73L|GSDMB_ENST00000394179.1_Silent_p.L73L|GSDMB_ENST00000418519.1_Silent_p.L73L|GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 73 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 GCCCAGAATCCAGTTCATCTA 0.507000 7 91 0 0 1 0 0 FAH 2184 broad.mit.edu 37 15 80472567 80472567 + Splice_Site SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr15:80472567G>A ENST00000539156.1 + 11 3090 c.852_splice c.e11+1 p.P284_splice FAH_ENST00000261755.5_Splice_Site_p.P354_splice|FAH_ENST00000407106.1_Splice_Site_p.P354_splice|FAH_ENST00000561421.1_Splice_Site_p.P354_splice P16930 FAAA_HUMAN fumarylacetoacetate hydrolase (fumarylacetoacetase) 354 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCAGCGGGCCGGTGAGTATCT 0.637000 Tyrosinemia, type 1 3 39 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119027721 119027721 + Silent SNP T T C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr11:119027721T>C ENST00000307417.3 + 9 1429 c.1065T>C c.(1063-1065)ccT>ccC p.P355P ABCG4_ENST00000531739.1_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000449422.2_Silent_p.P355P NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 355 cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CTCCTTGTCCTCCGGTGAGTA 0.607000 3 107 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237813234 237813234 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr1:237813234G>A ENST00000366574.2 + 50 7887 c.7570G>A c.(7570-7572)Gtc>Atc p.V2524I RYR2_ENST00000542537.1_Missense_Mutation_p.V2508I|RYR2_ENST00000360064.6_Missense_Mutation_p.V2522I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2524 4 X approximate repeats. 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) TTGCACAGCCGTCTTGCCATT 0.463000 48 105 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57397205 57397205 + Silent SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr12:57397205C>T ENST00000300101.2 - 2 1582 c.1497G>A c.(1495-1497)acG>acA p.T499T NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 GATGGGACAGCGTGTGCCACA 0.557000 3 14 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8874814 8874814 + Missense_Mutation SNP A A C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr2:8874814A>C ENST00000256707.3 - 28 3968 c.3787T>G c.(3787-3789)Ttt>Gtt p.F1263V KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1263 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CAGTCTCCAAAATTCATATTC 0.299000 19 26 0 0 1 0 0 SLC30A6 55676 broad.mit.edu 37 2 32429723 32429723 + Missense_Mutation SNP T T C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr2:32429723T>C ENST00000282587.5 + 11 767 c.730T>C c.(730-732)Tat>Cat p.Y244H SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H|SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 244 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGGCACTATGTATCCCATGAG 0.358000 21 52 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63170373 63170373 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr10:63170373G>A ENST00000399298.3 - 6 1182 c.814C>T c.(814-816)Cgt>Tgt p.R272C TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 272 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) AGTATGAGACGCACGACAAGG 0.502000 4 46 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126748890 126748890 + Silent SNP C C A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr3:126748890C>A ENST00000251772.4 + 27 5044 c.4975C>A c.(4975-4977)Cgg>Agg p.R1659R PLXNA1_ENST00000393409.2_Silent_p.R1682R Q9UIW2 PLXA1_HUMAN plexin A1 1682 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CTACTTGACACGGCTACTGGC 0.637000 3 95 0.115264 0.119875 1 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 4 28 0 0 1 0 0 RSC1A1 6248 broad.mit.edu 37 1 15987657 15987657 + Missense_Mutation SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr1:15987657A>G ENST00000345034.1 + 1 1294 c.1294A>G c.(1294-1296)Act>Gct p.T432A DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 432 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATTAACAGGTACTTCATCTGA 0.438000 13 25 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279830 46279830 + Silent SNP G G A rs147918555 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr20:46279830G>A ENST00000372004.3 + 20 3960 c.3744G>A c.(3742-3744)caG>caA p.Q1248Q NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q|NCOA3_ENST00000371997.3_Silent_p.Q1243Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1252 Acetyltransferase.|Poly-Gln. Missing. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1252Q(3) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.547000 3 21 0 0 1 0 0 NT5M 56953 broad.mit.edu 37 17 17250219 17250219 + Silent SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr17:17250219G>A ENST00000389022.4 + 5 861 c.645G>A c.(643-645)gcG>gcA p.A215A NT5M_ENST00000582909.1_3'UTR NM_020201.3 NP_064586.1 Q9NPB1 NT5M_HUMAN 5',3'-nucleotidase, mitochondrial 215 DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix 5'-nucleotidase activity|metal ion binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 ACTCGTGGGCGGACGACTGGA 0.692000 3 62 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27506671 27506671 + Silent SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr16:27506671C>T ENST00000356183.4 - 15 2508 c.2493G>A c.(2491-2493)acG>acA p.T831T GTF3C1_ENST00000561623.1_Silent_p.T831T NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 831 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CCTGCTTTATCGTTCTCCGTT 0.602000 5 45 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981685 7981685 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr11:7981685G>A ENST00000328600.2 - 2 1635 c.1474C>T c.(1474-1476)Cgc>Tgc p.R492C NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 492 ATP binding p.R492C(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACTTCTCTGCGGGACTCCTTC 0.498000 31 60 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7574018 7574018 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr17:7574018G>A ENST00000269305.4 - 10 1198 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 337 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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) ATCTCGAAGCGCTCACGCCCA 0.522000 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) 6 30 0 0 1 0 0 DMAP1 55929 broad.mit.edu 37 1 44680509 44680509 + Missense_Mutation SNP T T G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr1:44680509T>G ENST00000372289.2 + 3 595 c.332T>G c.(331-333)tTc>tGc p.F111C DMAP1_ENST00000361745.6_Missense_Mutation_p.F111C|DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C|DMAP1_ENST00000488433.1_3'UTR NM_019100.4 NP_061973.1 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 111 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(166;0.155) GGAGCAATGTTCTTCCACTGG 0.572000 6 63 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 3 83 6.4e-05 7.11111e-05 1 1 0 ERBB4 2066 broad.mit.edu 37 2 212288967 212288967 + Nonsense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr2:212288967G>A ENST00000342788.4 - 23 3089 c.2779C>T c.(2779-2781)Cga>Tga p.R927* ERBB4_ENST00000436443.1_Nonsense_Mutation_p.R927*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.R917* NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 927 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GGGATTTCTCGCGTTGGAATT 0.388000 TSP Lung(8;0.080) 16 44 0 0 1 0 0 RPS11 6205 broad.mit.edu 37 19 50002830 50002830 + Missense_Mutation SNP C C A rs11549537 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr19:50002830C>A ENST00000270625.2 + 5 498 c.415C>A c.(415-417)Cgc>Agc p.R139S RPS11_ENST00000599561.1_3'UTR|RPS11_ENST00000594493.1_Missense_Mutation_p.R60S NM_001015.4 NP_001006.1 P62280 RS11_HUMAN ribosomal protein S11 139 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 7 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245) CAAGACAGTGCGCTTCAACGT 0.597000 3 66 1 1 1 1 0 NECAP1 25977 broad.mit.edu 37 12 8242592 8242592 + Silent SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr12:8242592A>G ENST00000339754.5 + 2 234 c.156A>G c.(154-156)aaA>aaG p.K52K NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 52 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) TCACTTCAAAAGGGAAGACTG 0.438000 3 124 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80626371 80626371 + Missense_Mutation SNP A A T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr6:80626371A>T ENST00000369816.4 - 6 1199 c.899T>A c.(898-900)aTa>aAa p.I300K NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 300 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) TCCATTTTCTATCATGAGTTG 0.358000 18 39 0 0 1 0 0 P2RY4 5030 broad.mit.edu 37 X 69479042 69479042 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chrX:69479042G>A ENST00000374519.2 - 1 612 c.433C>T c.(433-435)Cgc>Tgc p.R145C NM_002565.3 NP_002556.1 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 4 145 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(2)|endometrium(2)|large_intestine(8)|lung(6) 18 CGGCCCCAGCGTAGTGCCCGA 0.597000 3 19 0 0 1 0 0 CSNK1E 1454 broad.mit.edu 37 22 38695932 38695932 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr22:38695932G>A ENST00000396832.1 - 6 964 c.704C>T c.(703-705)aCg>aTg p.T235M CSNK1E_ENST00000405675.3_Missense_Mutation_p.T235M|CSNK1E_ENST00000413574.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000359867.3_Missense_Mutation_p.T235M|CSNK1E_ENST00000400206.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000403904.1_Missense_Mutation_p.T235M|CSNK1E_ENST00000498529.1_5'UTR NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 235 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) CTCGATGGGCGTTGACATCTT 0.597000 4 180 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132426987 132426987 + Missense_Mutation SNP G G A rs141758444 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr5:132426987G>A ENST00000304858.2 + 12 1770 c.1481G>A c.(1480-1482)aGt>aAt p.S494N NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 494 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGTGTGTCCAGTGCATCTTTA 0.423000 17 39 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40481653 40481653 + Missense_Mutation SNP A A C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr17:40481653A>C ENST00000264657.5 - 13 1464 c.1152T>G c.(1150-1152)ttT>ttG p.F384L STAT3_ENST00000389272.3_Missense_Mutation_p.F286L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L|STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 384 F -> L (in AD-HIES).|F -> S (in AD-HIES). cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CCAGAATGTTAAATTTCCGGG 0.458000 Hyperimmunoglobulin E Recurrent Infection Syndrome 3 88 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24483975 24483975 + Splice_Site SNP C C A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr2:24483975C>A ENST00000355123.4 - 22 3125 c.2682_splice c.e22+1 p.Q894_splice ITSN2_ENST00000406921.3_Splice_Site_p.Q894_splice|ITSN2_ENST00000361999.3_Splice_Site_p.Q867_splice NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 894 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACAACATACCTGTCCATGAA 0.343000 3 59 1 1 1 1 0 EDC4 23644 broad.mit.edu 37 16 67909965 67909965 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr16:67909965G>A ENST00000358933.5 + 2 439 c.200G>A c.(199-201)cGg>cAg p.R67Q NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 67 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) ACTGGTCTTCGGACCATGCCA 0.532000 33 113 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30961160 30961160 + Splice_Site SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr2:30961160C>T ENST00000295055.8 - 17 1771 c.e17-1 CAPN13_ENST00000534090.2_Splice_Site NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CCTGGAGGTCCTGAGGAGAGA 0.597000 4 42 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277663 140277663 + Missense_Mutation SNP G G A rs137889465 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr3:140277663G>A ENST00000458420.3 + 12 2195 c.2005G>A c.(2005-2007)Gcc>Acc p.A669T NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 669 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.A669T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GAGCACCTTCGCCAAAACCGA 0.532000 HNSCC(16;0.037) 10 30 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 65 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175105 51175105 + Missense_Mutation SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr16:51175105A>G ENST00000440970.1 - 2 1168 c.737T>C c.(736-738)aTa>aCa p.I246T SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.I343T|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 343 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CGCTGCCAATATGTTCATATT 0.532000 5 143 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142840957 142840957 + Silent SNP C C G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr3:142840957C>G ENST00000309575.3 + 2 2683 c.1299C>G c.(1297-1299)gtC>gtG p.V433V NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 433 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 GAGACCCCGTCAAGACACTAC 0.597000 9 24 0 0 1 0 0 MBD6 0 broad.mit.edu 37 12 57918089 57918089 + Translation_Start_Site SNP G G T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr12:57918089G>T ENST00000355673.3 + 3 359 c.3G>T c.(1-3)atG>atT p.M1I MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Start_Codon_SNP_p.M1I NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 1 chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TACACACAATGAATGGGGGCA 0.572000 4 80 1.024e-07 1.16364e-07 1 1 0 TPTE2P6 0 broad.mit.edu 37 13 25171525 25171525 + RNA SNP G G T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr13:25171525G>T ENST00000453498.1 + 0 1421 CTATTCTTAGGCTTTATCTAC 0.353000 7 15 0.00198382 0.00215632 1 1 0 ANGPTL6 83854 broad.mit.edu 37 19 10203390 10203390 + Missense_Mutation SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr19:10203390C>T ENST00000253109.4 - 6 1526 c.1288G>A c.(1288-1290)Ggt>Agt p.G430S C19orf66_ENST00000253110.11_3'UTR|C19orf66_ENST00000397881.3_3'UTR|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.G430S|C19orf66_ENST00000591813.1_3'UTR|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.G390S NM_031917.2 NP_114123.2 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 430 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1) 12 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) TGCCACACACCGTTGAGGTTG 0.607000 12 33 0 0 1 0 0 LINC00521 0 broad.mit.edu 37 14 94464557 94464557 + RNA SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr14:94464557A>G ENST00000444118.1 + 0 237 NR_024182.1 GGGCTGTGGCAGGAACTCTAC 0.592000 8 61 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 67 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110131650 110131650 + Missense_Mutation SNP G G T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr8:110131650G>T ENST00000518632.1 + 3 1514 c.1163G>T c.(1162-1164)tGc>tTc p.C388F TRHR_ENST00000311762.2_Missense_Mutation_p.C388F P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 388 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GATGACACCTGCTTGGCTTCT 0.413000 14 60 6.31663e-08 7.34491e-08 1 1 0 FAH 2184 broad.mit.edu 37 15 80472567 80472567 + Splice_Site SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr15:80472567G>A ENST00000539156.1 + 11 3090 c.852_splice c.e11+1 p.P284_splice FAH_ENST00000261755.5_Splice_Site_p.P354_splice|FAH_ENST00000561421.1_Splice_Site_p.P354_splice|FAH_ENST00000407106.1_Splice_Site_p.P354_splice P16930 FAAA_HUMAN fumarylacetoacetate hydrolase (fumarylacetoacetase) 354 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCAGCGGGCCGGTGAGTATCT 0.637000 Tyrosinemia, type 1 3 39 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48591894 48591894 + Missense_Mutation SNP T T A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr18:48591894T>A ENST00000342988.3 + 9 1595 c.1057T>A c.(1057-1059)Tac>Aac p.Y353N SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 353 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGTTGATGGATACGTGGACCC 0.438000 25 42 0 0 1 0 0 MTFR1 9650 broad.mit.edu 37 8 66619312 66619312 + Silent SNP T T C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr8:66619312T>C ENST00000262146.4 + 6 711 c.585T>C c.(583-585)ccT>ccC p.P195P MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.P162P NM_014637.3 NP_055452.3 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 195 Pro-rich. mitochondrion|plasma membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) CGCCCCTGCCTCCCCCTGCAC 0.478000 3 103 0 0 1 0 0 GSDMB 55876 broad.mit.edu 37 17 38073351 38073351 + Silent SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr17:38073351C>T ENST00000394175.2 - 1 442 c.219G>A c.(217-219)ctG>ctA p.L73L GSDMB_ENST00000418519.1_Silent_p.L73L|GSDMB_ENST00000309481.7_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L|GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000394179.1_Silent_p.L73L NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 73 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 GCCCAGAATCCAGTTCATCTA 0.507000 7 91 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119027721 119027721 + Silent SNP T T C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr11:119027721T>C ENST00000307417.3 + 9 1429 c.1065T>C c.(1063-1065)ccT>ccC p.P355P ABCG4_ENST00000531739.1_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000449422.2_Silent_p.P355P NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 355 cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CTCCTTGTCCTCCGGTGAGTA 0.607000 3 107 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237813234 237813234 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr1:237813234G>A ENST00000366574.2 + 50 7887 c.7570G>A c.(7570-7572)Gtc>Atc p.V2524I RYR2_ENST00000542537.1_Missense_Mutation_p.V2508I|RYR2_ENST00000360064.6_Missense_Mutation_p.V2522I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2524 4 X approximate repeats. 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) TTGCACAGCCGTCTTGCCATT 0.463000 48 105 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57397205 57397205 + Silent SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr12:57397205C>T ENST00000300101.2 - 2 1582 c.1497G>A c.(1495-1497)acG>acA p.T499T NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 GATGGGACAGCGTGTGCCACA 0.557000 3 14 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8874814 8874814 + Missense_Mutation SNP A A C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr2:8874814A>C ENST00000256707.3 - 28 3968 c.3787T>G c.(3787-3789)Ttt>Gtt p.F1263V KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1263 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CAGTCTCCAAAATTCATATTC 0.299000 19 26 0 0 1 0 0 SLC30A6 55676 broad.mit.edu 37 2 32429723 32429723 + Missense_Mutation SNP T T C TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr2:32429723T>C ENST00000282587.5 + 11 767 c.730T>C c.(730-732)Tat>Cat p.Y244H SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H|SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 244 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGGCACTATGTATCCCATGAG 0.358000 21 52 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63170373 63170373 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr10:63170373G>A ENST00000399298.3 - 6 1182 c.814C>T c.(814-816)Cgt>Tgt p.R272C TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 272 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) AGTATGAGACGCACGACAAGG 0.502000 4 46 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126748890 126748890 + Silent SNP C C A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr3:126748890C>A ENST00000393409.2 + 27 5044 c.5044C>A c.(5044-5046)Cgg>Agg p.R1682R PLXNA1_ENST00000251772.4_Silent_p.R1659R NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1682 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CTACTTGACACGGCTACTGGC 0.637000 3 95 0.115264 0.120067 1 1 0 GTF3C1 2975 broad.mit.edu 37 16 27506671 27506671 + Silent SNP C C T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr16:27506671C>T ENST00000356183.4 - 15 2508 c.2493G>A c.(2491-2493)acG>acA p.T831T GTF3C1_ENST00000561623.1_Silent_p.T831T NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 831 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CCTGCTTTATCGTTCTCCGTT 0.602000 5 45 0 0 1 0 0 RSC1A1 6248 broad.mit.edu 37 1 15987657 15987657 + Missense_Mutation SNP A A G TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr1:15987657A>G ENST00000345034.1 + 1 1294 c.1294A>G c.(1294-1296)Act>Gct p.T432A DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 432 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATTAACAGGTACTTCATCTGA 0.438000 13 25 0 0 1 0 0 NT5M 56953 broad.mit.edu 37 17 17250219 17250219 + Silent SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr17:17250219G>A ENST00000389022.4 + 5 861 c.645G>A c.(643-645)gcG>gcA p.A215A NT5M_ENST00000582909.1_3'UTR NM_020201.3 NP_064586.1 Q9NPB1 NT5M_HUMAN 5',3'-nucleotidase, mitochondrial 215 DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix 5'-nucleotidase activity|metal ion binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 ACTCGTGGGCGGACGACTGGA 0.692000 3 62 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 3 71 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981685 7981685 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr11:7981685G>A ENST00000328600.2 - 2 1635 c.1474C>T c.(1474-1476)Cgc>Tgc p.R492C NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 492 ATP binding p.R492C(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACTTCTCTGCGGGACTCCTTC 0.498000 31 60 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7574018 7574018 + Missense_Mutation SNP G G A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr17:7574018G>A ENST00000269305.4 - 10 1198 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 337 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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) ATCTCGAAGCGCTCACGCCCA 0.522000 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) 6 30 0 0 1 0 0 RP13-221M14.3 0 broad.mit.edu 37 1 13164130 13164131 + RNA INS - - A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr1:13164130_13164131insA ENST00000434606.1 - 0 284 TTTACTGTAACAAAAAAAAAAG 0.515 2 4 --- --- --- --- AC008268.2 0 broad.mit.edu 37 2 96459692 96459692 + RNA DEL G G - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr2:96459692delG ENST00000471661.1 + 0 491 AAGGCTTCTAGAGCATGAGCT 0.567 2 4 --- --- --- --- GBE1 2632 broad.mit.edu 37 3 81627235 81627235 + Frame_Shift_Del DEL C C - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr3:81627235delC ENST00000429644.2 - 12 2102 c.1459delG c.(1459-1461)atfs p.D487fs GBE1_ENST00000489715.1_Frame_Shift_Del_p.D446fs NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 487 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) AGCGACTTATCCCCAACCAAT 0.363 Glycogen Storage Disease, type IV 2 4 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 4 5 --- --- --- --- EFR3A 23167 broad.mit.edu 37 8 132999828 132999828 + Frame_Shift_Del DEL A A - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr8:132999828delA ENST00000254624.5 + 18 2169 c.1944delA c.(1942-1944)ccfs p.P648fs EFR3A_ENST00000334503.4_Frame_Shift_Del_p.P648fs|EFR3A_ENST00000519656.1_Frame_Shift_Del_p.P612fs NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 648 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) GCAGGCTTCCAAAATCTTTAG 0.358 2 4 --- --- --- --- CREB3 10488 broad.mit.edu 37 9 35736505 35736506 + Frame_Shift_Del DEL TG TG - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr9:35736505_35736506delTG ENST00000353704.2 + 9 1336_1337 c.898_899delTG c.(898-900)tfs p.C300fs CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 324 chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CGGCTCAGACTGTGTACTCCAG 0.614 OREG0019176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 129 --- --- --- --- RP11-579D7.4 0 broad.mit.edu 37 12 49183367 49183367 + RNA DEL G G - rs10711161 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr12:49183367delG ENST00000549864.1 + 0 9 ccctgccccagccccagcccc 0.657 4 3 --- --- --- --- KRT2 3849 broad.mit.edu 37 12 53045603 53045604 + In_Frame_Ins INS - - AAGCCGCTGCCACCTCCA rs35124031 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA ENST00000309680.3 - 1 344_345 c.323_324insTGGAGGTGGCAGCGGCTT c.(322-324)tag>tTGGAGGTGGCAGCGGCTTag p.107_108insLEVAAA NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 107 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) caccaccactgaagccgctgcc 0.629 2 4 --- --- --- --- PIAS4 51588 broad.mit.edu 37 19 4037775 4037777 + In_Frame_Del DEL GAG GAG - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr19:4037775_4037777delGAG ENST00000262971.2 + 11 1550_1552 c.1435_1437delGAG c.(1435-1437)del p.E487del NM_015897.2 NP_056981.2 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 487 Asp/Glu-rich (acidic). positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CTCggaggatgaggaggaggagg 0.700 4 4 --- --- --- --- HDGFRP2 0 broad.mit.edu 37 19 4493799 4493801 + In_Frame_Del DEL TCC TCC - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr19:4493799_4493801delTCC ENST00000301284.4 + 7 842_844 c.778_780delTCC c.(778-780)del p.S264del HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 264 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding ctcctcctcttcctcctcctcct 0.675 3 6 --- --- --- --- MGC20647 0 broad.mit.edu 37 22 30642384 30642386 + In_Frame_Del DEL GAG GAG - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr22:30642384_30642386delGAG ENST00000593843.1 + 2 200_202 c.200_202delGAG c.(199-204)cga>c p.RG67del LIF_ENST00000249075.3_Intron|LIF_ENST00000403987.3_Intron TGTCCggagcgaggaggaggagg 0.606 3 5 --- --- --- --- TTLL12 23170 broad.mit.edu 37 22 43578990 43578991 + Frame_Shift_Ins INS - - G rs34872708 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 3aaa44ac-302b-430c-b503-d0de1f251a57 g.chr22:43578990_43578991insG ENST00000216129.6 - 2 405_406 c.342_343insC c.(340-345)ccacagfs p.Q115fs NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 115 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) TCCTACCTGTTGGGGTGGGCTG 0.639 18 32 --- --- --- --- RP13-221M14.3 0 broad.mit.edu 37 1 13164130 13164131 + RNA INS - - A TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr1:13164130_13164131insA ENST00000434606.1 - 0 284 TTTACTGTAACAAAAAAAAAAG 0.515 2 4 --- --- --- --- GBE1 2632 broad.mit.edu 37 3 81627235 81627235 + Frame_Shift_Del DEL C C - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr3:81627235delC ENST00000429644.2 - 12 2102 c.1459delG c.(1459-1461)atfs p.D487fs GBE1_ENST00000489715.1_Frame_Shift_Del_p.D446fs NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 487 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) AGCGACTTATCCCCAACCAAT 0.363 Glycogen Storage Disease, type IV 2 4 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 6 5 --- --- --- --- TRGV3 0 broad.mit.edu 37 7 38398480 38398481 + RNA INS - - AA rs3056123 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr7:38398480_38398481insAA ENST00000390346.2 - 0 226 GCACCCCTTTCAAGAAGAAAAC 0.480 10 21 --- --- --- --- EFR3A 23167 broad.mit.edu 37 8 132999828 132999828 + Frame_Shift_Del DEL A A - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr8:132999828delA ENST00000254624.5 + 18 2169 c.1944delA c.(1942-1944)ccfs p.P648fs EFR3A_ENST00000519656.1_Frame_Shift_Del_p.P612fs|EFR3A_ENST00000334503.4_Frame_Shift_Del_p.P648fs NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 648 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) GCAGGCTTCCAAAATCTTTAG 0.358 2 4 --- --- --- --- CREB3 10488 broad.mit.edu 37 9 35736505 35736506 + Frame_Shift_Del DEL TG TG - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr9:35736505_35736506delTG ENST00000353704.2 + 9 1336_1337 c.898_899delTG c.(898-900)tfs p.C300fs CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 324 chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CGGCTCAGACTGTGTACTCCAG 0.614 OREG0019176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 129 --- --- --- --- C9orf114 51490 broad.mit.edu 37 9 131591119 131591120 + Frame_Shift_Ins INS - - T TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr9:131591119_131591120insT ENST00000361256.5 - 3 142_143 c.102_103insA c.(100-105)aaggaafs p.E35fs NM_016390.3 NP_057474.2 Q5T280 CI114_HUMAN chromosome 9 open reading frame 114 35 kidney(2)|large_intestine(4)|ovary(1) 7 AGATCCTTCCATTTTTTTTTCT 0.525 10 112 --- --- --- --- PIAS4 51588 broad.mit.edu 37 19 4037775 4037777 + In_Frame_Del DEL GAG GAG - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr19:4037775_4037777delGAG ENST00000262971.2 + 11 1550_1552 c.1435_1437delGAG c.(1435-1437)del p.E487del NM_015897.2 NP_056981.2 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 487 Asp/Glu-rich (acidic). positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CTCggaggatgaggaggaggagg 0.700 4 4 --- --- --- --- HDGFRP2 0 broad.mit.edu 37 19 4493799 4493801 + In_Frame_Del DEL TCC TCC - TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr19:4493799_4493801delTCC ENST00000301284.4 + 7 842_844 c.778_780delTCC c.(778-780)del p.S264del HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 264 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding ctcctcctcttcctcctcctcct 0.675 3 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11056763 11056763 + RNA DEL T T - rs2838178 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr21:11056763delT ENST00000470054.1 - 0 487 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) CATTGAGTAATAAAATGTTCC 0.299 5 3 --- --- --- --- TTLL12 23170 broad.mit.edu 37 22 43578990 43578991 + Frame_Shift_Ins INS - - G rs34872708 TCGA-EJ-7315-01A-31D-2114-08 TCGA-EJ-7315-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11afac2e-9d8e-455c-8276-8cb5bdce0537 35f9f6e3-a269-4b6d-a218-677ab3905fa8 g.chr22:43578990_43578991insG ENST00000216129.6 - 2 405_406 c.342_343insC c.(340-345)ccacagfs p.Q115fs NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 115 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) TCCTACCTGTTGGGGTGGGCTG 0.639 18 32 --- --- --- ---