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 PPM1B 5495 broad.mit.edu 37 2 44428625 44428625 + Missense_Mutation SNP A A T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr2:44428625A>T ENST00000378551.2 + 2 699 c.287A>T c.(286-288)gAg>gTg p.E96V PPM1B_ENST00000282412.4_Missense_Mutation_p.E96V|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.E96V|PPM1B_ENST00000409432.3_Missense_Mutation_p.E96V NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 96 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCTGCTCTTGAGCTTTCAGTG 0.408000 37 40 0 0 1 0 0 SCP2D1 140856 broad.mit.edu 37 20 18794772 18794772 + Missense_Mutation SNP G G T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr20:18794772G>T ENST00000377428.2 + 1 403 c.313G>T c.(313-315)Gac>Tac p.D105Y C20orf78_ENST00000278779.4_Intron NM_178483.2 NP_848578.1 SCP2 sterol-binding domain containing 1 GCTCCCAGCAGACACTGTCTT 0.507000 15 26 2.62699e-14 2.78461e-14 1 1 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 5 64 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr19:40367841T>G ENST00000221347.6 - 29 13126 c.13119A>C c.(13117-13119)gcA>gcC p.A4373A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4373 TIL 10. extracellular region protein binding p.A4373A(2) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627000 8 16 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33109728 33109728 + Missense_Mutation SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr3:33109728C>T ENST00000307363.5 - 4 595 c.451G>A c.(451-453)Gac>Aac p.D151N GLB1_ENST00000307377.8_Intron|GLB1_ENST00000399402.3_Missense_Mutation_p.D121N|GLB1_ENST00000445488.2_Missense_Mutation_p.D199N NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 151 D -> V (in GM1G1).|D -> Y (in GM1G1; complete lack of protein; no enzymatic activity). carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) CTACCTGGGTCGGAGGAGCGG 0.488000 27 36 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8521487 8521487 + Missense_Mutation SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr9:8521487C>T ENST00000381196.4 - 17 1294 c.751G>A c.(751-753)Gga>Aga p.G251R PTPRD_ENST00000397606.3_Missense_Mutation_p.G241R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G248R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G241R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G251R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G238R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G248R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G238R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G251R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G251R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G251R NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 251 Ig-like C2-type 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTAACGCTTCCGCCTGGCATG 0.468000 TSP Lung(15;0.13) 22 10 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53226063 53226063 + Missense_Mutation SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chrX:53226063C>T ENST00000452825.3 - 17 3117 c.2585G>A c.(2584-2586)cGa>cAa p.R862Q KDM5C_ENST00000375401.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000404049.3_Missense_Mutation_p.R928Q|KDM5C_ENST00000375379.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000375383.3_Missense_Mutation_p.R888Q NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 929 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 ATCCAGCCATCGCGCCTGTTC 0.672000 """N, F, S""" clear cell renal carcinoma 5 10 0 0 1 0 0 KRTAP21-1 337977 broad.mit.edu 37 21 32127495 32127495 + Missense_Mutation SNP G G A rs149639659 by1000genomes TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr21:32127495G>A ENST00000335093.3 - 1 251 c.202C>T c.(202-204)Cgg>Tgg p.R68W NM_181619.1 NP_853650.1 Q3LI58 KR211_HUMAN keratin associated protein 21-1 68 intermediate filament breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 CAAAATGGCCGGTAGCCACAG 0.478000 10 198 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 5 17 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117391914 117391914 + Missense_Mutation SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr11:117391914C>T ENST00000321322.6 - 6 1325 c.1324G>A c.(1324-1326)Ggg>Agg p.G442R DSCAML1_ENST00000527706.1_Missense_Mutation_p.G172R NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 382 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGGTAGGCCCCGGAATGGCTC 0.652000 5 116 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33574784 33574784 + Missense_Mutation SNP G G A rs115275866 by1000genomes TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr20:33574784G>A ENST00000262873.7 + 13 1218 c.1126G>A c.(1126-1128)Gcc>Acc p.A376T NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 334 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGAGCTCATCGCCACCGACGT 0.607000 17 28 0 0 1 0 0 WSB1 26118 broad.mit.edu 37 17 25631850 25631850 + Missense_Mutation SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr17:25631850G>A ENST00000262394.2 + 4 839 c.523G>A c.(523-525)Gat>Aat p.D175N WSB1_ENST00000348811.2_Missense_Mutation_p.D29N|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.D144N|WSB1_ENST00000579733.1_Missense_Mutation_p.D29N|WSB1_ENST00000581185.1_Missense_Mutation_p.D175N NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 175 intracellular signal transduction intracellular protein binding lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGTGGTCAGAGATTTAACTTT 0.348000 38 42 0 0 1 0 0 ACOT9 23597 broad.mit.edu 37 X 23723125 23723125 + Silent SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chrX:23723125G>A ENST00000379303.5 - 14 1220 c.1092C>T c.(1090-1092)ctC>ctT p.L364L ACOT9_ENST00000379295.1_Silent_p.L295L|ACOT9_ENST00000336430.7_Silent_p.L355L NM_001037171.1 NP_001032248.1 Q9Y305 ACOT9_HUMAN acyl-CoA thioesterase 9 355 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1) 15 AAGAAAGAAAGAGCAATGAGC 0.413000 16 74 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119914946 119914946 + Missense_Mutation SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr7:119914946G>A ENST00000331113.4 + 1 1225 c.260G>A c.(259-261)cGt>cAt p.R87H NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 87 Interaction with KCNIP1 (By similarity). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TTCTTTGACCGTGACCCAGAC 0.527000 4 169 0 0 1 0 0 SRMS 6725 broad.mit.edu 37 20 62172684 62172684 + Missense_Mutation SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr20:62172684G>A ENST00000217188.1 - 7 1185 c.1145C>T c.(1144-1146)cCg>cTg p.P382L NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 382 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GCTGCTGCTCGGGGAGTAGAT 0.662000 54 83 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566252 136566252 + Missense_Mutation SNP T T C TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr2:136566252T>C ENST00000264162.2 - 8 3675 c.3665A>G c.(3664-3666)aAc>aGc p.N1222S NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1222 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GGAGGGTGGGTTTAGCCTGGG 0.587000 27 103 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 518418 518418 + Nonsense_Mutation SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr10:518418G>A ENST00000280886.6 - 3 316 c.229C>T c.(229-231)Cga>Tga p.R77* DIP2C_ENST00000381496.3_5'UTR NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 77 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GAAGACCGTCGGCGGTGGTAG 0.592000 5 107 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227343 75227343 + Missense_Mutation SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr8:75227343G>A ENST00000342232.4 - 2 932 c.892C>T c.(892-894)Cgc>Tgc p.R298C NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 298 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CCATTGGAGCGCTCGCTAACG 0.537000 10 100 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56374648 56374648 + Silent SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr6:56374648G>A ENST00000370754.5 - 74 18710 c.18711C>T c.(18709-18711)atC>atT p.I6237I DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000370769.4_Silent_p.I6059I|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Silent_p.I3645I|DST_ENST00000361203.3_Silent_p.I5948I|DST_ENST00000421834.2_Silent_p.I3971I|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.I3862I Q03001 DYST_HUMAN dystonin 6057 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GGCTCTCAAGGATCTGATCTA 0.398000 21 10 0 0 1 0 0 ARFIP1 27236 broad.mit.edu 37 4 153791963 153791963 + Silent SNP A A G TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr4:153791963A>G ENST00000451320.2 + 4 425 c.261A>G c.(259-261)cgA>cgG p.R87R ARFIP1_ENST00000405727.2_Intron|ARFIP1_ENST00000353617.2_Silent_p.R87R|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000356064.3_Intron P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 87 intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) CAGCTAGTCGACTGGCTCAGC 0.448000 30 38 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791805 42791805 + Missense_Mutation SNP A A G TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr19:42791805A>G ENST00000572681.2 + 6 3486 c.3418A>G c.(3418-3420)Agc>Ggc p.S1140G CIC_ENST00000575354.2_Missense_Mutation_p.S231G|CIC_ENST00000160740.3_Missense_Mutation_p.S231G Q96RK0 CIC_HUMAN capicua transcriptional repressor 231 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) CCGGACCGTCAGCAAGATCCT 0.622000 """Mis, F, S""" oligodendroglioma 32 2 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55360227 55360227 + Missense_Mutation SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr6:55360227G>A ENST00000398661.2 - 8 1006 c.875C>T c.(874-876)aCg>aTg p.T292M HMGCLL1_ENST00000370850.2_Missense_Mutation_p.T159M|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.T262M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.T230M|HMGCLL1_ENST00000508459.1_Intron NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 292 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CTGAAGGGCCGTAAGGATATT 0.383000 25 24 0 0 1 0 0 RELT 84957 broad.mit.edu 37 11 73105561 73105561 + Silent SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr11:73105561G>A ENST00000064780.2 + 9 1089 c.828G>A c.(826-828)ccG>ccA p.P276P RELT_ENST00000393580.2_Silent_p.P276P NM_152222.1 NP_689408.1 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor 276 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 ACATCTGCCCGCACCGCCACC 0.706000 4 122 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152647526 152647526 + Silent SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr6:152647526G>A ENST00000367255.5 - 79 15799 c.15198C>T c.(15196-15198)acC>acT p.T5066T SYNE1_ENST00000341594.5_Silent_p.T4813T|SYNE1_ENST00000423061.1_Silent_p.T4995T|SYNE1_ENST00000448038.1_Silent_p.T4995T|SYNE1_ENST00000265368.4_Silent_p.T5066T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5066 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTCTTTGCCGGTTGGCTTGA 0.522000 HNSCC(10;0.0054) 23 34 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143748007 143748007 + Silent SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr7:143748007C>T ENST00000408906.2 + 1 547 c.513C>T c.(511-513)ccC>ccT p.P171P NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TCTGTGGGCCCCATGAAATCA 0.552000 5 255 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190050 209190050 + Missense_Mutation SNP A A G TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr2:209190050A>G ENST00000264380.4 + 20 2673 c.2515A>G c.(2515-2517)Atc>Gtc p.I839V NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 839 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 AGGCTGTACAATCAAGCTAAG 0.393000 28 11 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 3 31 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397725 125397725 + Missense_Mutation SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr12:125397725G>A ENST00000536769.1 - 1 2169 c.593C>T c.(592-594)gCc>gTc p.A198V UBC_ENST00000546120.1_Missense_Mutation_p.A122V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.A198V P0CG48 UBC_HUMAN ubiquitin C 198 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTGTTTTCCGGCAAAGATCAA 0.507000 4 138 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17362479 17362479 + Missense_Mutation SNP G G A rs139642055 byFrequency TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr19:17362479G>A ENST00000252597.3 - 12 2007 c.1834C>T c.(1834-1836)Cgc>Tgc p.R612C USHBP1_ENST00000431146.2_Missense_Mutation_p.R548C|AC010646.3_ENST00000594059.1_5'UTR NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 612 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 AGCTCCCTGCGCAGAGACTGC 0.602000 38 34 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318742 21318742 + Missense_Mutation SNP G G A rs150538033 TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr17:21318742G>A ENST00000583088.1 + 3 983 c.88G>A c.(88-90)Ggc>Agc p.G30S KCNJ12_ENST00000331718.5_Missense_Mutation_p.G30S NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GGGCGCCAACGGCTTCGGCAA 0.647000 Prostate(3;0.18) 7 45 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64694345 64694345 + Missense_Mutation SNP C C A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr11:64694345C>A ENST00000164133.2 + 3 983 c.361C>A c.(361-363)Ctc>Atc p.L121I NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 121 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 CCGGGGTGTCCTCATCGAGCC 0.652000 3 37 0.115264 0.117481 1 1 0 KDM5B 10765 broad.mit.edu 37 1 202718147 202718147 + Missense_Mutation SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr1:202718147C>T ENST00000367265.3 - 14 3106 c.1942G>A c.(1942-1944)Gct>Act p.A648T KDM5B_ENST00000367264.2_Missense_Mutation_p.A684T NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 648 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ACAGTTGAAGCCACTACAACA 0.413000 36 51 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826709 143826709 + Silent SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr7:143826709C>T ENST00000408899.2 + 1 559 c.504C>T c.(502-504)tgC>tgT p.C168C NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) TGCCCTTCTGCGGGCCTCATG 0.552000 92 208 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153068982 153068982 + Silent SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chrX:153068982G>A ENST00000164640.4 - 8 2327 c.2136C>T c.(2134-2136)ggC>ggT p.G712G PDZD4_ENST00000393758.2_Silent_p.G637G|PDZD4_ENST00000544474.1_Silent_p.G603G NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 712 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTTGCTGTCGCCATTCTGCT 0.602000 26 60 0 0 1 0 0 C11orf16 56673 broad.mit.edu 37 11 8943016 8943016 + Silent SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr11:8943016C>T ENST00000326053.5 - 6 1357 c.1251G>A c.(1249-1251)caG>caA p.Q417Q C11orf16_ENST00000525780.1_Intron NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 417 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GTGCTCTCTGCTGTTTGTGAT 0.473000 7 104 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17405266 17405266 + Missense_Mutation SNP T T C TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr19:17405266T>C ENST00000247706.3 - 4 1219 c.980A>G c.(979-981)gAg>gGg p.E327G MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 327 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 AGCGTTGCCCTCCTTTAACAG 0.647000 11 79 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 4 44 0 0 1 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123687257 123687257 + Silent SNP G G T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr12:123687257G>T ENST00000606320.1 - 10 1901 c.1695C>A c.(1693-1695)gtC>gtA p.V565V MPHOSPH9_ENST00000302349.5_Silent_p.V413V|MPHOSPH9_ENST00000392425.3_Silent_p.V413V|MPHOSPH9_ENST00000541076.2_Silent_p.V535V Q99550 MPP9_HUMAN M-phase phosphoprotein 9 413 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) GGGACTGACTGACTGAGGCCG 0.433000 3 54 6.4e-05 6.65098e-05 1 1 0 LCE3E 353145 broad.mit.edu 37 1 152538494 152538494 + Missense_Mutation SNP C C T rs143470301 TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr1:152538494C>T ENST00000368789.1 - 2 246 c.191G>A c.(190-192)cGg>cAg p.R64Q NM_178435.2 NP_848522.1 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 64 keratinization lung(6)|ovary(1) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) CCTCTGGCGCCGGCATCGGTG 0.677000 8 77 0 0 1 0 0 OR51I2 390064 broad.mit.edu 37 11 5475052 5475052 + Missense_Mutation SNP T T C TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr11:5475052T>C ENST00000341449.2 + 1 415 c.334T>C c.(334-336)Tca>Cca p.S112P HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGATGGAATCAGGTATTCT 0.483000 36 70 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494451 55494451 + Missense_Mutation SNP C C T TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr19:55494451C>T ENST00000543010.1 + 6 1528 c.1385C>T c.(1384-1386)aCg>aTg p.T462M NLRP2_ENST00000391721.4_Missense_Mutation_p.T438M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T462M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T440M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T459M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T439M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T440M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T438M NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 462 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGGGCGCAGACGTCCGTGCTT 0.687000 32 2 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 24 17 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50833584 50833584 + Missense_Mutation SNP A A C TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr10:50833584A>C ENST00000395562.2 + 7 1041 c.572A>C c.(571-573)tAc>tCc p.Y191S CHAT_ENST00000339797.1_Missense_Mutation_p.Y155S|CHAT_ENST00000395559.2_Missense_Mutation_p.Y155S|CHAT_ENST00000455728.2_Missense_Mutation_p.Y155S|CHAT_ENST00000351556.3_Missense_Mutation_p.Y155S|CHAT_ENST00000337653.2_Missense_Mutation_p.Y273S NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 273 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ATGAAGCAATACTATGGGCTC 0.602000 8 8 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67575592 67575592 + Silent SNP T T G TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr16:67575592T>G ENST00000540839.3 + 13 1267 c.1047T>G c.(1045-1047)tcT>tcG p.S349S FAM65A_ENST00000379312.3_Silent_p.S333S|FAM65A_ENST00000042381.4_Silent_p.S329S|FAM65A_ENST00000428437.2_Silent_p.S343S|FAM65A_ENST00000422602.2_Silent_p.S349S Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 333 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CAGCTGCTTCTTCTGTCAACA 0.597000 15 17 0 0 1 0 0 AC018890.6 0 broad.mit.edu 37 2 175584608 175584608 + RNA DEL G G - TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr2:175584608delG ENST00000442996.1 + 0 217 CGAAGGAGAAGGGGGGTAAGT 0.602 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37001134 37001135 + Frame_Shift_Del DEL AG AG - TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr5:37001134_37001135delAG ENST00000282516.8 + 14 4117_4118 c.3618_3619delAG c.(3616-3621)atagfs p.IE1206fs NIPBL_ENST00000448238.2_Frame_Shift_Del_p.IE1206fs NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1206 I -> V.|Missing (in CDLS1). brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CAGCCTCAATAGAGAATATTTT 0.307 21 43 --- --- --- --- TAP1 6890 broad.mit.edu 37 6 32821013 32821013 + Frame_Shift_Del DEL C C - TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr6:32821013delC ENST00000354258.4 - 1 742 c.581delG c.(580-582)gafs p.G194fs PSMB9_ENST00000395330.1_Intron NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 194 antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 AGGGTGACTTCCCCAGTGCAG 0.672 2 4 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 4 3 --- --- --- --- HELZ2 85441 broad.mit.edu 37 20 62203514 62203514 + Frame_Shift_Del DEL G G - TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e35407-c89c-4456-ae75-ac1a5c654d4e 2cb82482-08eb-45d5-9002-c0470f357383 g.chr20:62203514delG ENST00000467148.1 - 1 294 c.225delC c.(223-225)ccfs p.P75fs HELZ2_ENST00000479540.1_5'UTR NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GGTGCTCCCAGGGCAGGGCCT 0.647 7 9 --- --- --- ---