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 KRTAP4-11 653240 broad.mit.edu 37 17 39274491 39274491 + Missense_Mutation SNP C C T rs113376601 by1000genomes TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr17:39274491C>T ENST00000391413.2 - 1 115 c.77G>A c.(76-78)cGc>cAc p.R26H NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 26 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCAGCTGGGGCGGCAGCAGGT 0.627000 7 80 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96628278 96628278 + Missense_Mutation SNP G G C rs148270321 by1000genomes TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr2:96628278G>C ENST00000456556.1 - 7 901 c.817C>G c.(817-819)Cca>Gca p.P273A ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCAAGGCTGGTTGTTTCTGA 0.313000 3 54 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79853107 79853107 + Splice_Site SNP A A C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr9:79853107A>C ENST00000360280.3 + 18 2045 c.1785_splice c.e18+1 p.A595_splice VPS13A_ENST00000376636.3_Splice_Site_p.A595_splice|VPS13A_ENST00000357409.5_Splice_Site_p.A595_splice|VPS13A_ENST00000376634.4_Splice_Site_p.A595_splice NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 595 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TATATGATGCAGTAAGCATTT 0.274000 6 224 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48204026 48204026 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr16:48204026C>T ENST00000394747.1 - 27 4230 c.3881G>A c.(3880-3882)cGc>cAc p.R1294H ABCC11_ENST00000356608.2_Missense_Mutation_p.R1294H|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1294H|ABCC11_ENST00000353782.5_Intron|ABCC11_ENST00000565329.1_5'UTR NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1294 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R1294H(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CTTGGAGTTGCGAAGCACAGC 0.577000 6 313 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151165118 151165118 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr3:151165118C>T ENST00000282466.3 - 4 2650 c.2651G>A c.(2650-2652)gGc>gAc p.G884D NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 884 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTGGTTGTGCCTTGTATTTG 0.423000 6 653 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855581 79855581 + Silent SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr5:79855581C>T ENST00000338682.3 - 5 930 c.258G>A c.(256-258)acG>acA p.T86T NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 86 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) GCATCAGAGCCGTTTTCCCAG 0.463000 4 322 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78429830 78429830 + Nonsense_Mutation SNP C C A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr1:78429830C>A ENST00000370767.1 - 12 1045 c.958G>T c.(958-960)Gaa>Taa p.E320* FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E320*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341* Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 320 KH 3. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GCTATCCTTTCGGGTGTTGTC 0.348000 """F, N""" oligodendroglioma 15 149 0.000308642 0.000316984 1 1 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 6 91 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176824788 176824788 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr5:176824788C>T ENST00000324417.5 + 13 1512 c.1421C>T c.(1420-1422)gCc>gTc p.A474V SLC34A1_ENST00000513614.1_3'UTR NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 474 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGCAGATTGCCCTCTGTCAC 0.612000 4 165 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135922204 135922204 + Missense_Mutation SNP A A G TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr2:135922204A>G ENST00000264158.8 + 23 2690 c.2647A>G c.(2647-2649)Acc>Gcc p.T883A RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.T839A|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.T883A|ZRANB3_ENST00000412849.1_Intron NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 883 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) AGTGTTAGTCACCGGTGCAGG 0.512000 3 60 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12908353 12908353 + Silent SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr17:12908353T>C ENST00000338034.4 - 11 1175 c.936A>G c.(934-936)ccA>ccG p.P312P ELAC2_ENST00000395962.2_Silent_p.P293P|ELAC2_ENST00000426905.3_Silent_p.P272P NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 312 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 AGCTTTCATCTGGACATTCTA 0.512000 37 310 0 0 1 0 0 RBMX 27316 broad.mit.edu 37 X 135957425 135957425 + Missense_Mutation SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chrX:135957425T>C ENST00000431446.3 - 5 603 c.449A>G c.(448-450)gAg>gGg p.E150G RBMX_ENST00000562646.1_Silent_p.R258R|RBMX_ENST00000570135.1_Silent_p.R123R|RBMX_ENST00000320676.7_Silent_p.R258R|RBMX_ENST00000565438.1_Silent_p.R130R NM_001164803.1 NP_001158275.1 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 0 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) ACCTATATCCTCTTGATGGAT 0.393000 4 276 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40570895 40570895 + Missense_Mutation SNP G G T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr21:40570895G>T ENST00000342449.3 - 40 5525 c.5447C>A c.(5446-5448)aCc>aAc p.T1816N BRWD1_ENST00000380800.3_Missense_Mutation_p.T1816N|BRWD1_ENST00000333229.2_Missense_Mutation_p.T1816N NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1816 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.T1816N(2) cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CAGAATCTTGGTTTTTTTAAA 0.388000 20 309 1.00905e-13 1.08011e-13 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139399934 139399934 + Missense_Mutation SNP A A G TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr9:139399934A>G ENST00000277541.6 - 25 4489 c.4414T>C c.(4414-4416)Tgc>Cgc p.C1472R NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1472 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TCCCAGCCGCACGCGTGGTTG 0.642000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 4 75 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64828630 64828630 + Missense_Mutation SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr12:64828630G>A ENST00000332707.5 + 21 3155 c.2626G>A c.(2626-2628)Gca>Aca p.A876T NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 876 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.A876S(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) CATTGTCCCCGCATGTTTCCT 0.373000 4 269 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49509063 49509063 + Nonsense_Mutation SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr20:49509063G>A ENST00000396029.3 - 5 2755 c.2188C>T c.(2188-2190)Cga>Tga p.R730* ADNP_ENST00000396032.3_Nonsense_Mutation_p.R730*|ADNP_ENST00000371602.4_Nonsense_Mutation_p.R730*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.R730* NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 730 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 TCTAACTTTCGTTTTTTCAGT 0.443000 20 197 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423477 33423477 + Silent SNP A A C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr6:33423477A>C ENST00000395064.2 + 2 868 c.600A>C c.(598-600)ggA>ggC p.G200G NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 GAGGGGAGGGAAGTGAACTGG 0.552000 51 111 0 0 1 0 0 KRTAP19-8 728299 broad.mit.edu 37 21 32410673 32410673 + Silent SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr21:32410673G>A ENST00000382822.2 - 1 122 c.90C>T c.(88-90)ggC>ggT p.G30G NM_001099219.1 NP_001092689.1 Q3LI54 KR198_HUMAN keratin associated protein 19-8 30 intermediate filament endometrium(2)|upper_aerodigestive_tract(1) 3 TGCGGAAGCTGCCATAGCCGC 0.537000 24 252 0 0 1 0 0 CIR1 9541 broad.mit.edu 37 2 175243709 175243709 + Silent SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr2:175243709T>C ENST00000342016.3 - 7 518 c.426A>G c.(424-426)gaA>gaG p.E142E CIR1_ENST00000362053.5_Silent_p.E142E NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 142 mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 ACAAAGGACATTCTCGATCTG 0.403000 22 228 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208725913 208725913 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr2:208725913C>T ENST00000427836.2 - 7 2513 c.2024G>A c.(2023-2025)aGt>aAt p.S675N PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S675N NM_001080475.2 NP_001073944.1 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 675 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCTACAAAGACTGCAGCTGTA 0.438000 95 168 0 0 1 0 0 NOA1 84273 broad.mit.edu 37 4 57832878 57832878 + Missense_Mutation SNP C C A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr4:57832878C>A ENST00000264230.4 - 5 2909 c.1672G>T c.(1672-1674)Gtc>Ttc p.V558F NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 558 GTP binding GAAGCCACGACTGTAAACCAA 0.448000 7 160 0.000274275 0.000285547 1 1 0 HAP1 9001 broad.mit.edu 37 17 39884518 39884518 + Missense_Mutation SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr17:39884518G>A ENST00000393939.2 - 7 1144 c.1135C>T c.(1135-1137)Cgg>Tgg p.R379W HAP1_ENST00000347901.4_Missense_Mutation_p.R379W|HAP1_ENST00000341193.5_Missense_Mutation_p.R387W|HAP1_ENST00000310778.5_Missense_Mutation_p.R379W|JUP_ENST00000540235.1_Intron P54257 HAP1_HUMAN huntingtin-associated protein 1 379 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TGCTGCTGCCGTTCATAGTTT 0.652000 4 111 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134988634 134988634 + Silent SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chrX:134988634C>T ENST00000535938.1 + 7 827 c.660C>T c.(658-660)aaC>aaT p.N220N SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.N220N|SAGE1_ENST00000324447.3_Silent_p.N220N NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 220 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CACCTGATAACGTGTTGTTGA 0.423000 150 513 0 0 1 0 0 ASIC5 51802 broad.mit.edu 37 4 156757955 156757955 + Missense_Mutation SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr4:156757955G>A ENST00000537611.2 - 8 1167 c.1121C>T c.(1120-1122)cCc>cTc p.P374L NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 374 integral to membrane|plasma membrane ACAAGAAACGGGGCAGCTAGA 0.358000 9 198 0 0 1 0 0 ANKRD29 147463 broad.mit.edu 37 18 21226219 21226219 + Silent SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr18:21226219G>A ENST00000592179.1 - 3 319 c.165C>T c.(163-165)taC>taT p.Y55Y ANKRD29_ENST00000322980.9_Silent_p.Y55Y|ANKRD29_ENST00000284207.7_Silent_p.Y55Y NM_173505.2 NP_775776.2 Q8N6D5 ANR29_HUMAN ankyrin repeat domain 29 55 breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1) 13 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) TGTGGCCAGCGTAGGCAGCAA 0.512000 13 86 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982721 57982721 + Missense_Mutation SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr11:57982721G>A ENST00000309433.6 + 1 505 c.505G>A c.(505-507)Gct>Act p.A169T NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TAATATTATTGCTCTGACACA 0.478000 27 460 0 0 1 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46020910 46020910 + Missense_Mutation SNP G G C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr21:46020910G>C ENST00000380102.2 + 1 414 c.389G>C c.(388-390)tGt>tCt p.C130S TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 130 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 CCTGTGTACTGTGTGCCTGTC 0.632000 22 446 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269135 1269135 + Silent SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr11:1269135G>A ENST00000447027.1 + 31 11092 c.11034G>A c.(11032-11034)ccG>ccA p.P3678P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3675P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3675 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCAGCACCCCGGCCACCAGCT 0.587000 26 342 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74943721 74943721 + Splice_Site SNP A A G rs5023505 TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr16:74943721A>G ENST00000262144.6 - 15 1614 c.1485_splice c.e15+1 p.V495_splice NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 495 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 GCTTCCCACCACAAAGGACTC 0.498000 4 96 0 0 1 0 0 RP1-37N7.4 0 broad.mit.edu 37 17 18333079 18333079 + RNA SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr17:18333079T>C ENST00000580052.1 + 0 43 KRT17P2_ENST00000326333.8_RNA CTGAGCCGCATCCTGAACGAG 0.592000 23 79 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19713790 19713790 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chrX:19713790C>T ENST00000397821.3 - 5 750 c.460G>A c.(460-462)Gag>Aag p.E154K SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E154K|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E117K NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 154 SH3 2. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 CCTGACAGCTCCTTGATGAAG 0.512000 5 240 0 0 1 0 0 SOAT1 6646 broad.mit.edu 37 1 179314136 179314136 + Silent SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr1:179314136T>C ENST00000367619.3 + 11 1185 c.1042T>C c.(1042-1044)Ttg>Ctg p.L348L SOAT1_ENST00000540564.1_Silent_p.L290L|SOAT1_ENST00000535686.1_Silent_p.L84L|SOAT1_ENST00000539888.1_Silent_p.L283L NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 348 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TTGTGCCCCCTTGTTTCGGAA 0.408000 16 311 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44079702 44079702 + Silent SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr22:44079702G>A ENST00000262726.7 - 12 1429 c.1176C>T c.(1174-1176)aaC>aaT p.N392N EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Silent_p.N240N NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTGTGATGATGTTTTCCTTGT 0.348000 5 196 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 47 93 0 0 1 0 0 HIST1H2AM 8336 broad.mit.edu 37 6 27860923 27860923 + Missense_Mutation SNP G G C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr6:27860923G>C ENST00000359611.2 - 1 40 c.5C>G c.(4-6)tCt>tGt p.S2C NM_003514.2 NP_003505.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 2 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2) 14 GCCACGTCCAGACATGGTAAA 0.572000 27 63 0 0 1 0 0 SLC25A15 10166 broad.mit.edu 37 13 41379349 41379349 + Missense_Mutation SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr13:41379349T>C ENST00000338625.4 + 4 646 c.410T>C c.(409-411)aTg>aCg p.M137T SLC25A15_ENST00000478827.1_3'UTR NM_014252.3 NP_055067.1 Q9Y619 ORNT1_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 137 cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1) 14 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704) L-Ornithine(DB00129) CTGCAGACCATGTATGAGATG 0.542000 12 93 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145738653 145738653 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr8:145738653C>T ENST00000428558.2 - 15 2452 c.2411G>A c.(2410-2412)cGg>cAg p.R804Q CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 804 Helicase C-terminal. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) ACGCCCGGCCCGGCCCACGGC 0.716000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 18 27 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45855028 45855028 + Missense_Mutation SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr21:45855028G>A ENST00000397928.1 + 28 4434 c.3989G>A c.(3988-3990)cGc>cAc p.R1330H TRPM2_ENST00000300481.9_Missense_Mutation_p.R1276H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1330H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1380H NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1330 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCCATGGGCCGCACAGGACTG 0.667000 4 190 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48265901 48265901 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr17:48265901C>T ENST00000225964.5 - 43 3315 c.3197G>A c.(3196-3198)cGt>cAt p.R1066H NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1066 Triple-helical region. R -> C (in a patient with overlapping features of osteogenesis imperfecta and Ehlers-Danlos syndrome; pathogenic mutation; affects dimer formation, helix stability and organization of collagen fibrils). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) AGTCTCACCACGATCACCACT 0.652000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 24 57 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54259292 54259292 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chrX:54259292C>T ENST00000354646.2 - 21 5228 c.4790G>A c.(4789-4791)cGa>cAa p.R1597Q WNK3_ENST00000375169.3_Missense_Mutation_p.R1550Q|WNK3_ENST00000375159.2_Missense_Mutation_p.R1597Q NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1550 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GGGGCGGCTTCGAAGTTTGCT 0.418000 92 150 0 0 1 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69097010 69097010 + Silent SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr4:69097010C>T ENST00000332644.5 - 7 758 c.597G>A c.(595-597)caG>caA p.Q199Q NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 199 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 GCATGCTGGCCTGCCATGGCC 0.493000 13 96 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44079106 44079106 + Missense_Mutation SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr19:44079106G>A ENST00000262887.5 - 2 647 c.100C>T c.(100-102)Cgg>Tgg p.R34W L34079.4_ENST00000600242.1_RNA|XRCC1_ENST00000543982.1_Intron|L34079.2_ENST00000594374.1_Intron P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 34 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) TTGGCTGCCCGCCATTTTCGG 0.552000 Other BER factors 3 51 0 0 1 0 0 HPS1 3257 broad.mit.edu 37 10 100185417 100185417 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr10:100185417C>T ENST00000325103.6 - 13 1449 c.1216G>A c.(1216-1218)Gag>Aag p.E406K HPS1_ENST00000361490.4_Missense_Mutation_p.E406K|HPS1_ENST00000467246.1_5'UTR NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 406 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) AGCTTCTTCTCCAGCATGGAG 0.667000 Hermansky-Pudlak syndrome OREG0020430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 68 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154294528 154294528 + Silent SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr1:154294528C>T ENST00000484864.1 + 2 261 c.225C>T c.(223-225)aaC>aaT p.N75N AQP10_ENST00000355197.4_Intron|AQP10_ENST00000324978.3_Silent_p.N75N Q96PS8 AQP10_HUMAN aquaporin 10 75 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGGGTGGTAACGTCTCAGGTG 0.547000 18 31 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433964 72433964 + Missense_Mutation SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chrX:72433964G>A ENST00000373517.3 - 1 720 c.365C>T c.(364-366)gCg>gTg p.A122V NAP1L2_ENST00000536638.1_5'UTR NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 122 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TAAATTGGCCGCTCTAGTTTG 0.373000 90 155 0 0 1 0 0 PJA2 9867 broad.mit.edu 37 5 108714431 108714431 + Missense_Mutation SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr5:108714431T>C ENST00000361189.2 - 4 996 c.757A>G c.(757-759)Agc>Ggc p.S253G PJA2_ENST00000361557.3_Missense_Mutation_p.S253G NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 253 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) ATTTCCTGGCTATTCTGATGG 0.383000 87 139 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25463299 25463299 + Missense_Mutation SNP A A G rs149043640 TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr2:25463299A>G ENST00000264709.3 - 19 2531 c.2194T>C c.(2194-2196)Ttt>Ctt p.F732L DNMT3A_ENST00000321117.5_Missense_Mutation_p.F732L|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.F543L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F509L NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 732 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAGAACTCAAAGAAGAGCCGG 0.607000 """Mis, F, N, S""" AML 38 67 0 0 1 0 0 XRN2 22803 broad.mit.edu 37 20 21346317 21346317 + Missense_Mutation SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr20:21346317G>A ENST00000377191.3 + 26 2526 c.2431G>A c.(2431-2433)Gat>Aat p.D811N XRN2_ENST00000539513.1_Missense_Mutation_p.D757N|XRN2_ENST00000430571.2_Missense_Mutation_p.D735N NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 811 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 TGTGCACCTGGATCAGGCAGC 0.473000 4 191 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87241960 87241960 + Missense_Mutation SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr8:87241960T>C ENST00000297524.3 - 1 650 c.547A>G c.(547-549)Ata>Gta p.I183V SLC7A13_ENST00000419776.2_Missense_Mutation_p.I183V|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 183 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TTCCCTCTTATCAGGAACACT 0.408000 12 221 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48619177 48619177 + Missense_Mutation SNP C C T rs143352280 byFrequency TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr3:48619177C>T ENST00000328333.8 - 48 4791 c.4684G>A c.(4684-4686)Gct>Act p.A1562T COL7A1_ENST00000454817.1_Missense_Mutation_p.A1562T NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1562 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGGGCCCAGCGGGCCCCACA 0.582000 5 283 0 0 1 0 0 OSBPL8 114882 broad.mit.edu 37 12 76881291 76881291 + Splice_Site SNP G G T rs142756436 TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr12:76881291G>T ENST00000261183.3 - 2 520 c.42_splice c.e2+1 p.S14_splice OSBPL8_ENST00000393250.4_5'UTR|OSBPL8_ENST00000393249.2_5'UTR NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 14 lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 ACTACTCACCGAAGTTCGATC 0.353000 4 79 0.000602214 0.000610244 1 1 0 TDRD3 81550 broad.mit.edu 37 13 61083925 61083925 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr13:61083925C>T ENST00000196169.3 + 9 1396 c.608C>T c.(607-609)aCg>aTg p.T203M TDRD3_ENST00000377894.2_Missense_Mutation_p.T203M|TDRD3_ENST00000377881.2_Missense_Mutation_p.T203M|TDRD3_ENST00000535286.1_Missense_Mutation_p.T296M NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 203 UBA. chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity p.T203fs*21(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) AAGCACATAACGGAAATGGGC 0.418000 16 315 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10401968 10401968 + Missense_Mutation SNP G G A rs142884848 byFrequency TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr17:10401968G>A ENST00000226207.5 - 30 4250 c.4156C>T c.(4156-4158)Cgc>Tgc p.R1386C CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1386 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCCTCTGTGCGCTGGATGGCA 0.483000 117 145 0 0 1 0 0 ABCB7 22 broad.mit.edu 37 X 74290346 74290346 + Missense_Mutation SNP C C A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chrX:74290346C>A ENST00000253577.3 - 10 1246 c.1222G>T c.(1222-1224)Gtt>Ttt p.V408F ABCB7_ENST00000373394.3_Missense_Mutation_p.V407F|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.V367F NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 407 ABC transmembrane type-1. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 AGATCTCCAACAGTAAGGGTA 0.358000 13 273 0.00185496 0.00185496 1 1 0 CHST8 64377 broad.mit.edu 37 19 34180275 34180275 + Missense_Mutation SNP G G T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr19:34180275G>T ENST00000262622.3 + 2 866 c.108G>T c.(106-108)gaG>gaT p.E36D CHST8_ENST00000434302.1_Missense_Mutation_p.E36D|CHST8_ENST00000438847.2_Missense_Mutation_p.E36D|CHST8_ENST00000604556.1_Missense_Mutation_p.E36D NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 36 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) ACCCTACGGAGCTCGCCCCCC 0.637000 8 121 1.26484e-09 1.33511e-09 1 1 0 PAX2 5076 broad.mit.edu 37 10 102509607 102509607 + Missense_Mutation SNP C C T rs76675173 TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr10:102509607C>T ENST00000370296.2 + 2 698 c.148C>T c.(148-150)Cgg>Tgg p.R50W PAX2_ENST00000428433.1_Missense_Mutation_p.R50W|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000556085.1_Missense_Mutation_p.R49W|PAX2_ENST00000355243.3_Missense_Mutation_p.R50W|PAX2_ENST00000361791.3_Missense_Mutation_p.R50W Q02962 PAX2_HUMAN paired box 2 50 Paired. anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CCAGGGTGTGCGGCCCTGTGA 0.687000 4 109 0 0 1 0 0 CCSER1 401145 broad.mit.edu 37 4 91230393 91230393 + Missense_Mutation SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr4:91230393T>C ENST00000509176.1 + 2 1246 c.958T>C c.(958-960)Tct>Cct p.S320P CCSER1_ENST00000432775.2_Missense_Mutation_p.S320P|CCSER1_ENST00000333691.8_Missense_Mutation_p.S320P NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 TGCAATTATGTCTCCTGGGAA 0.418000 6 155 0 0 1 0 0 LRRC45 201255 broad.mit.edu 37 17 79988540 79988540 + Silent SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr17:79988540T>C ENST00000306688.3 + 17 2214 c.1872T>C c.(1870-1872)tcT>tcC p.S624S NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 624 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AGAACGCGTCTCTCCGGGAGA 0.701000 9 12 0 0 1 0 0 IL34 146433 broad.mit.edu 37 16 70693984 70693984 + Missense_Mutation SNP C C T TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr16:70693984C>T ENST00000429149.2 + 7 1178 c.623C>T c.(622-624)gCg>gTg p.A208V IL34_ENST00000288098.2_Missense_Mutation_p.A208V|IL34_ENST00000566361.1_Missense_Mutation_p.A183V NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 208 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding p.A208V(1) breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 TTGCAGTATGCGGCCACCCAG 0.647000 5 329 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791799 42791799 + Missense_Mutation SNP A A C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr19:42791799A>C ENST00000572681.2 + 6 3480 c.3412A>C c.(3412-3414)Acc>Ccc p.T1138P CIC_ENST00000160740.3_Missense_Mutation_p.T229P|CIC_ENST00000575354.2_Missense_Mutation_p.T229P Q96RK0 CIC_HUMAN capicua transcriptional repressor 229 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGACAACCGGACCGTCAGCAA 0.617000 """Mis, F, S""" oligodendroglioma 45 18 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55615263 55615263 + Missense_Mutation SNP G G C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr12:55615263G>C ENST00000326258.1 + 1 455 c.455G>C c.(454-456)gGt>gCt p.G152A NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TGGATGTCCGGTGTTCCTGTG 0.493000 6 173 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140182636 140182636 + Silent SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr5:140182636G>A ENST00000522353.2 + 1 1854 c.1854G>A c.(1852-1854)gcG>gcA p.A618A PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.A618A|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGCGGTGCGCGCATCCCGT 0.672000 88 91 0 0 1 0 0 RP11-296I10.6 0 broad.mit.edu 37 16 70253871 70253871 + RNA SNP A A G TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr16:70253871A>G ENST00000581050.1 - 0 1619 NR_033959.1 GTAAAGCTTCACCGAAGAGTG 0.388000 3 36 0 0 1 0 0 SEMA6B 10501 broad.mit.edu 37 19 4550875 4550875 + Nonsense_Mutation SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr19:4550875G>A ENST00000586582.1 - 11 1367 c.1057C>T c.(1057-1059)Cga>Tga p.R353* SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.R353*|SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.R353* NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 353 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TTCTGCTCTCGGAAGCGGCCT 0.627000 7 145 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33560040 33560040 + Missense_Mutation SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr12:33560040T>C ENST00000228567.3 - 3 1057 c.761A>G c.(760-762)aAa>aGa p.K254R SYT10_ENST00000535526.1_Missense_Mutation_p.K73R NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 254 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) ATCTAAAGCTTTGATAATTTT 0.378000 49 72 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141584 133141584 + Silent SNP G G A TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr8:133141584G>A ENST00000388996.4 - 15 2964 c.2544C>T c.(2542-2544)agC>agT p.S848S KCNQ3_ENST00000519445.1_Silent_p.S836S|KCNQ3_ENST00000521134.1_Silent_p.S728S NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 848 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GCATGGAGCCGCTGGGCGTGA 0.582000 4 99 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149924318 149924318 + Missense_Mutation SNP A A G TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chrX:149924318A>G ENST00000445323.2 + 15 1959 c.1838A>G c.(1837-1839)aAt>aGt p.N613S MTMR1_ENST00000370390.3_Missense_Mutation_p.N605S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N511S|MTMR1_ENST00000544228.1_Missense_Mutation_p.N605S|MTMR1_ENST00000538506.1_3'UTR Q13613 MTMR1_HUMAN myotubularin related protein 1 605 plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GTACGATGGAATCCACGGATG 0.343000 79 119 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27058039 27058040 + Frame_Shift_Del DEL CA CA - TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr1:27058039_27058040delCA ENST00000324856.7 + 3 2118_2119 c.1747_1748delCA c.(1747-1749)gfs p.Q583fs ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q200fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q583fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 583 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCCTCAGCCCCAGTCTCAGCAG 0.609 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 23 231 --- --- --- --- PODN 127435 broad.mit.edu 37 1 53535555 53535557 + In_Frame_Del DEL CTG CTG - TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr1:53535555_53535557delCTG ENST00000371500.3 + 4 456_458 c.115_117delCTG c.(115-117)del p.L42del PODN_ENST00000312553.5_In_Frame_Del_p.L61del|PODN_ENST00000395871.2_In_Frame_Del_p.L61del NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 13 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 gctgctgctcctgctgctgctgc 0.685 2 4 --- --- --- --- AC007255.7 0 broad.mit.edu 37 7 29699825 29699826 + RNA DEL TT TT - rs142232912 TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr7:29699825_29699826delTT ENST00000426767.1 - 0 366 NR_024278.1 ATTATTGACCTTTTTTTTTTCA 0.252 5 5 --- --- --- --- RP11-158D2.2 0 broad.mit.edu 37 9 86693417 86693417 + RNA DEL A A - rs34077830 TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr9:86693417delA ENST00000423515.2 + 0 823 aataaaaaTTAAAAAAAAAAA 0.413 3 6 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 7 105 --- --- --- --- DDX47 51202 broad.mit.edu 37 12 12982412 12982414 + In_Frame_Del DEL ATG ATG - TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr12:12982412_12982414delATG ENST00000358007.3 + 12 1314_1316 c.1292_1294delATG c.(1291-1296)aat>a p.ND431del DDX47_ENST00000352940.4_In_Frame_Del_p.ND382del|RP11-59H1.3_ENST00000534843.1_3'UTR NM_016355.3 NP_057439.2 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 431 nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) GCTGGAGATAATGATGACACAGA 0.453 32 69 --- --- --- --- ZNF268 10795 broad.mit.edu 37 12 133779622 133779622 + Frame_Shift_Del DEL A A - rs141481798 by1000genomes TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr12:133779622delA ENST00000536435.2 + 6 1680 c.1350delA c.(1348-1350)ggfs p.G450fs ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.G289fs|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.G450fs NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 450 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GTGATTGTGGAAAAGCCTTTA 0.398 2 4 --- --- --- --- RP11-19N8.4 0 broad.mit.edu 37 16 33070000 33070026 + RNA DEL AATGTGAACATACAAAAAACAAATCAG AATGTGAACATACAAAAAACAAATCAG - TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b2ecb8-3547-46b2-a4d0-a1cf130f0d37 a20f4f56-79d0-4def-a3da-6fac1bd9a844 g.chr16:33070000_33070026delAATGTGAACATACAAAAAACAAATCAG ENST00000561541.1 - 0 291 ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT 0.352 2 4 --- --- --- ---