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 DARC 2532 broad.mit.edu 37 1 159175495 159175495 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr1:159175495G>A uc001ftp.4 + 0 447 c.272G>A c.(271-273)cGc>cAc p.R91H DARC_uc001fto.3_Missense_Mutation_p.R89H NM_001122951 NP_001116423 Q16570 DUFFY_HUMAN Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA. 89 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) CCTCTCTTCCGCTGGCAGCTC 0.602 OBSCN 84033 broad.mit.edu 37 1 228529316 228529316 + Splice_Site SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr1:228529316G>A uc009xez.1 + 74 18078 c.18034_splice c.e74+1 p.R6012_splice OBSCN_uc001hsn.3_Splice_Site_p.R6012_splice|OBSCN_uc001hsr.1_Splice_Site_p.R641_splice NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 6012 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCTGTGTGGCGTGAGTGTCCA 0.667 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A A G rs2257765 TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr10:38654432A>G uc010qex.1 + 4 599 c.524A>G c.(523-525)aAt>aGt p.N175S HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TCATCTCGCAATGCAAGGAAA 0.453 AGAP6 414189 broad.mit.edu 37 10 51748567 51748567 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr10:51748567C>T uc001jix.4 + 0 490 c.92C>T c.(91-93)aCc>aTc p.T31I NM_001077665 NP_001071133 C9IYN2 C9IYN2_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA. 31 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 GAATCTGAGACCTATGAGGCA 0.597 VENTX 27287 broad.mit.edu 37 10 135053299 135053299 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr10:135053299C>T uc010quy.1 + 1 372 c.361C>T c.(361-363)Cgg>Tgg p.R121W NM_014468 NP_055283 O95231 VENTX_HUMAN Homo sapiens VENT homeobox (VENTX), mRNA. 121 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) CCCTCTGGAGCGGAAGAGGCT 0.687 OR4C3 256144 broad.mit.edu 37 11 48346680 48346680 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr11:48346680C>T uc010rhv.2 + 0 188 c.188C>T c.(187-189)aCg>aTg p.T63M NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TATGTGGTCACGGTTTGTGGC 0.463 OR4A47 403253 broad.mit.edu 37 11 48510660 48510660 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr11:48510660G>A uc010rhx.2 + 0 316 c.316G>A c.(316-318)Ggt>Agt p.G106S NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GCACATTTTCGGTGGGTCAGA 0.453 OR5W2 390148 broad.mit.edu 37 11 55681751 55681751 + Missense_Mutation SNP A A G TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr11:55681751A>G uc010rir.2 - 0 308 c.308T>C c.(307-309)gTc>gCc p.V103A NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA. 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V103V(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GATACAGAAGACCAAGAATTG 0.468 GANAB 23193 broad.mit.edu 37 11 62400735 62400735 + Silent SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr11:62400735C>T uc001nua.3 - 7 738 c.705G>A c.(703-705)gaG>gaA p.E235E GANAB_uc001nub.3_Silent_p.E213E|GANAB_uc001nuc.3_Silent_p.E116E|GANAB_uc010rma.2_Silent_p.E121E|GANAB_uc010rmb.2_Silent_p.E99E NM_198335 NP_938149 Q14697 GANAB_HUMAN Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA. 213 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TCCCCTGAGTCTCCTCTGGCT 0.527 USP28 57646 broad.mit.edu 37 11 113672259 113672259 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr11:113672259C>T uc001poh.3 - 23 3037 c.3004G>A c.(3004-3006)Gcc>Acc p.A1002T USP28_uc001pog.3_Missense_Mutation_p.A678T|USP28_uc010rwy.2_Missense_Mutation_p.A845T|USP28_uc001poi.3_Missense_Mutation_p.A325T NM_020886 NP_065937 Q96RU2 UBP28_HUMAN Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA. 1002 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ACCTCAATGGCATCCAGATCA 0.393 DDX25 29118 broad.mit.edu 37 11 125788549 125788549 + Silent SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr11:125788549C>T uc001qcz.4 + 9 1206 c.1065C>T c.(1063-1065)acC>acT p.T355T DDX25_uc010sbk.2_Silent_p.T355T NM_013264 NP_037396 Q9UHL0 DDX25_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA. 355 Helicase C-terminal. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) AGTGGTTGACCGTGGAGATGA 0.512 LRRK2 120892 broad.mit.edu 37 12 40618993 40618996 + Frame_Shift_Del DEL AGTC AGTC - TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr12:40618993_40618996delAGTC uc001rmg.4 + 0 181_184 c.60_63delAGTC c.(58-63)atagtcfs p.I20fs NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 20 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGAAGTTGATAGTCAGGCTGAACA 0.544 PTPRB 5787 broad.mit.edu 37 12 70928634 70928634 + Silent SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr12:70928634G>A uc001swb.4 - 27 5559 c.5529C>T c.(5527-5529)atC>atT p.I1843I BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Silent_p.I1753I|PTPRB_uc010stp.2_Silent_p.I1753I|PTPRB_uc001swc.4_Silent_p.I2061I|PTPRB_uc001swa.4_Silent_p.I1973I NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1843 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TAAACTCCCGGATGGTCCACT 0.512 UHRF1BP1L 23074 broad.mit.edu 37 12 100451481 100451482 + Frame_Shift_Del DEL AG AG - TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr12:100451481_100451482delAG uc001tgq.3 - 14 3520_3521 c.3291_3292delCT c.(3289-3294)ctctgtfs p.L1097fs UHRF1BP1L_uc001tgp.3_Frame_Shift_Del_p.L747fs NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA. 1097 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TAAGAAACACAGAGAGGAGCCA 0.332 SLC24A6 80024 broad.mit.edu 37 12 113737741 113737741 + Silent SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr12:113737741G>A uc001tvc.3 - 15 1806 c.1596C>T c.(1594-1596)ggC>ggT p.G532G SLC24A6_uc001tuz.3_Silent_p.G237G|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Silent_p.G270G NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA. 532 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 GCCCCAGGGCGCCTGCCAGGA 0.627 KSR2 283455 broad.mit.edu 37 12 118105354 118105354 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr12:118105354G>A uc001two.2 - 4 1064 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 366 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity p.R398C(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAGAAGGAGCGGAGGGAGCGC 0.602 GCN1L1 10985 broad.mit.edu 37 12 120628101 120628101 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr12:120628101C>T uc001txo.3 - 2 134 c.121_splice c.e2+1 p.D41_splice NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 41 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAATAAATACCTTTTCCAGCA 0.393 NEK3 4752 broad.mit.edu 37 13 52728302 52728302 + Missense_Mutation SNP A A G TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr13:52728302A>G uc001vgh.3 - 1 1418 c.187T>C c.(187-189)Tct>Cct p.S63P NEK3_uc001vgi.3_Missense_Mutation_p.S42P|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Missense_Mutation_p.S42P NM_001146099 NP_001139571 P51956 NEK3_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA. 42 Interaction with VAV2.|Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) TGTGTATTAGAGAAAGACTAG 0.284 RIN3 79890 broad.mit.edu 37 14 93022210 93022210 + Silent SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr14:93022210G>A uc001yap.3 + 1 311 c.159G>A c.(157-159)ctG>ctA p.L53L RIN3_uc010auk.3_5'UTR NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA. 53 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) TCAGCATCCTGGAGAAGCTCA 0.612 GOLGA8DP 100132979 broad.mit.edu 37 15 22709152 22709152 + Missense_Mutation SNP G G T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr15:22709152G>T uc010axw.2 - 10 1245 c.347C>A c.(346-348)gCg>gAg p.A116E abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA. GGCCTGGAGCGCTCCTGCCAC 0.607 TJP1 7082 broad.mit.edu 37 15 30053400 30053400 + Nonsense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr15:30053400G>A uc001zcr.3 - 7 1427 c.952C>T c.(952-954)Cag>Tag p.Q318* TJP1_uc010azl.3_Nonsense_Mutation_p.Q306*|TJP1_uc001zcq.3_Nonsense_Mutation_p.Q322*|TJP1_uc001zcs.3_Nonsense_Mutation_p.Q318* NM_003257 NP_003248 Q07157 ZO1_HUMAN Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA. 318 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TCTGACCGCTGGTCAGGAGAT 0.488 MAPKBP1 23005 broad.mit.edu 37 15 42067489 42067489 + Missense_Mutation SNP T T G TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr15:42067489T>G uc001zok.4 + 1 302 c.16T>G c.(16-18)Tca>Gca p.S6A MAPKBP1_uc010bci.3_Missense_Mutation_p.S6A|MAPKBP1_uc010udb.2_5'UTR|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S6A|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA. 6 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TGTGGAAGGGTCAACCATTAC 0.557 SEMA7A 8482 broad.mit.edu 37 15 74708161 74708161 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr15:74708161C>T uc002axv.3 - 7 1007 c.967G>A c.(967-969)Ggt>Agt p.G323S SEMA7A_uc010ulk.2_Missense_Mutation_p.G158S|SEMA7A_uc010ull.2_Missense_Mutation_p.G309S NM_003612 NP_001139502 O75326 SEM7A_HUMAN Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA. 323 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 GAGAAAACACCATAGACCCTG 0.612 FBXO22 26263 broad.mit.edu 37 15 76196838 76196838 + Silent SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr15:76196838C>T uc002bbk.3 + 1 252 c.147C>T c.(145-147)tgC>tgT p.C49C FBXO22_uc002bbj.2_Silent_p.C49C|FBXO22_uc002bbl.3_Intron NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA. 49 F-box. ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TCAGCGTGTGCCGCTTATGGA 0.622 ZNF174 7727 broad.mit.edu 37 16 3458790 3458790 + Silent SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr16:3458790G>A uc002cvc.3 + 2 1910 c.1095G>A c.(1093-1095)cgG>cgA p.R365R NM_003450 NP_003441 Q15697 ZN174_HUMAN Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA. 365 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 GCTTTGGGCGGCAGTCAACCC 0.542 DNAH3 55567 broad.mit.edu 37 16 21080833 21080833 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr16:21080833G>A uc010vbe.2 - 22 3284 c.3284C>T c.(3283-3285)cCa>cTa p.P1095L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1095 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACTGAAGATTGGTTCCAGGTA 0.438 SRCAP 10847 broad.mit.edu 37 16 30734359 30734359 + Missense_Mutation SNP C C G TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr16:30734359C>G uc002dze.1 + 23 4353 c.3968C>G c.(3967-3969)cCt>cGt p.P1323R SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1118R NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 1323 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGACTGACTCCTGTTCCTCCA 0.587 SRCAP 10847 broad.mit.edu 37 16 30749342 30749342 + Frame_Shift_Del DEL G G - TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr16:30749342delG uc002dze.1 + 33 8366 c.7981delG c.(7981-7983)gatfs p.D2661fs SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.D2456fs NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 2661 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGCAGCATCTGATGAGCCACT 0.602 RLTPR 146206 broad.mit.edu 37 16 67683468 67683468 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr16:67683468G>A uc002etn.3 + 19 1985 c.1865G>A c.(1864-1866)gGg>gAg p.G622E RLTPR_uc010cel.1_Missense_Mutation_p.G615E|RLTPR_uc010vjr.2_Missense_Mutation_p.G586E NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA. 622 Tropomodulin-like. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) AACGCCATGGGGGACGCGGGC 0.701 TP53 7157 broad.mit.edu 37 17 7577556 7577556 + Missense_Mutation SNP C C T rs121912655 TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr17:7577556C>T uc002gim.2 - 6 919 c.725G>A c.(724-726)tGc>tAc p.C242Y TP53_uc002gig.1_Missense_Mutation_p.C242Y|TP53_uc002gih.3_Missense_Mutation_p.C242Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C110Y|TP53_uc010cnf.1_Missense_Mutation_p.C110Y|TP53_uc002gii.1_Missense_Mutation_p.C110Y|TP53_uc010cni.1_Missense_Mutation_p.C242Y|TP53_uc010cnh.1_Missense_Mutation_p.C242Y|TP53_uc002gij.2_Missense_Mutation_p.C242Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C149Y|TP53_uc002gio.2_Missense_Mutation_p.C110Y|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 242 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C242F(156)|p.C242Y(85)|p.S241F(78)|p.C242S(43)|p.S241C(24)|p.C242fs*5(16)|p.C242R(12)|p.S241A(9)|p.S241fs*6(9)|p.0?(8)|p.S241Y(8)|p.C242W(7)|p.N239_C242delNSSC(6)|p.C149F(6)|p.S241T(6)|p.S241del(5)|p.?(5)|p.C242*(3)|p.S241S(3)|p.S241P(3)|p.C242fs*20(2)|p.C242G(2)|p.Y236_M243delYMCNSSCM(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.C242C(2)|p.C242fs*98(2)|p.C149Y(2)|p.H233_C242del10(2)|p.S241fs*22(2)|p.S241_G245delSCMGG(2)|p.C242fs*23(1)|p.N239fs*4(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N239_C242del(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCGCCCATGCAGGAACTGTT 0.577 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYH8 4626 broad.mit.edu 37 17 10304743 10304743 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr17:10304743G>A uc002gmm.2 - 23 3052 c.2957C>T c.(2956-2958)gCa>gTa p.A986V AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 986 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ATCCAGGCCTGCCATCTCTTC 0.443 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling CNDP1 84735 broad.mit.edu 37 18 72226676 72226676 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr18:72226676G>A uc002llq.3 + 2 483 c.272G>A c.(271-273)cGt>cAt p.R91H BC047599_uc002llr.3_Non-coding_Transcript NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA. 91 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) CTGGGGGCCCGTGTGGCCTCG 0.632 CATSPERD 257062 broad.mit.edu 37 19 5776309 5776309 + Silent SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr19:5776309C>T uc002mda.3 + 20 2140 c.2079C>T c.(2077-2079)atC>atT p.I693I NM_152784 NP_689997 Q86XM0 TM146_HUMAN Homo sapiens transmembrane protein 146 (TMEM146), mRNA. 693 integral to membrane ACATTTCGATCGTGGATCCGT 0.582 MUC16 94025 broad.mit.edu 37 19 9090864 9090864 + Silent SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr19:9090864G>A uc002mkp.3 - 0 1155 c.951C>T c.(949-951)gcC>gcT p.A317A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 317 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCTGGCTCTGGCCTCGGGCA 0.498 MAST1 22983 broad.mit.edu 37 19 12979571 12979571 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr19:12979571G>A uc002mvm.3 + 20 2809 c.2681G>A c.(2680-2682)gGg>gAg p.G894E NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 894 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.G894E(3) NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CAGATGTCAGGGGATGTGGCA 0.577 ZNF626 199777 broad.mit.edu 37 19 20808078 20808078 + Missense_Mutation SNP T T A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr19:20808078T>A uc002npb.1 - 3 755 c.605A>T c.(604-606)aAa>aTa p.K202I ZNF626_uc002npc.1_Missense_Mutation_p.K126I NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TTCTTCACATTTGTAGGGTTT 0.368 FKRP 79147 broad.mit.edu 37 19 47258817 47258817 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr19:47258817G>A uc002pfn.2 + 3 407 c.110G>A c.(109-111)cGg>cAg p.R37Q FKRP_uc002pfp.2_Missense_Mutation_p.R37Q|FKRP_uc021uwj.1_Missense_Mutation_p.R37Q NM_024301 NP_077277 Q9H9S5 FKRP_HUMAN Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA. 37 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) TCCCGGGCCCGGGGGCCCCGT 0.677 LILRB3 11025 broad.mit.edu 37 19 54724484 54724484 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr19:54724484G>A uc010erh.1 - 5 1296 c.1172C>T c.(1171-1173)gCg>gTg p.A391V LILRB3_uc002qee.1_Missense_Mutation_p.A391V|LILRB3_uc002qef.1_Missense_Mutation_p.A391V|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.A391V|LILRB3_uc002qeh.1_Missense_Mutation_p.A391V|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.A391V|LILRB3_uc002qek.1_Intron|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Intron|LILRB3_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.A391V|LILRB3_uc002qep.1_Missense_Mutation_p.A391V|LILRB3_uc002qeq.1_Missense_Mutation_p.A391V|LILRB3_uc010yep.1_Intron|LILRB3_uc010yeq.1_Intron NM_006864 NP_006855 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA. 391 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTAGGTCCCCGCGTGGGCTGA 0.607 LILRB3 79168 broad.mit.edu 37 19 54744236 54744236 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr19:54744236G>A uc010erh.1 - LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.A391V|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.A391V|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc010yep.1_Missense_Mutation_p.A391V|LILRB3_uc010yeq.1_Missense_Mutation_p.A391V|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.A391V|LILRB3_uc002qev.1_Missense_Mutation_p.A252V NM_006864 NP_006855 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity p.A391V(1) endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTAGGTCCCCGCGTGGGCTGA 0.592 GALNT3 2591 broad.mit.edu 37 2 166611230 166611230 + Silent SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr2:166611230G>A uc010fph.1 - 8 1920 c.1533C>T c.(1531-1533)agC>agT p.S511S NM_004482 NP_004473 Q14435 GALT3_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA. 511 Ricin B-type lectin. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 GCTGACCAACGCTTTTAATCT 0.303 SESTD1 91404 broad.mit.edu 37 2 180014058 180014058 + Nonsense_Mutation SNP C C A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr2:180014058C>A uc002uni.4 - 6 697 c.547G>T c.(547-549)Gga>Tga p.G183* NM_178123 NP_835224 Q86VW0 SESD1_HUMAN Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA. 183 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) TTATCACTTCCATTGTTAATC 0.308 SP100 6672 broad.mit.edu 37 2 231328786 231328786 + Frame_Shift_Del DEL C C - TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr2:231328786delC uc002vqt.3 + 10 1203 c.1062delC c.(1060-1062)atcfs p.I354fs SP100_uc002vqs.3_Frame_Shift_Del_p.I354fs|SP100_uc002vqu.1_Frame_Shift_Del_p.I354fs|SP100_uc002vqq.2_Frame_Shift_Del_p.I354fs|SP100_uc010zmc.2_Frame_Shift_Del_p.I329fs|SP100_uc002vqv.2_Frame_Shift_Del_p.I319fs NM_003113 NP_003104 P23497 SP100_HUMAN Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA. 354 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GTGCAGTGATCAATAATGACA 0.408 ERG 2078 broad.mit.edu 37 21 39764312 39764312 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr21:39764312G>A uc010gnw.3 - 8 1116 c.821C>T c.(820-822)aCg>aTg p.T274M ERG_uc021wjd.1_Missense_Mutation_p.T274M|ERG_uc002yxa.3_Missense_Mutation_p.T267M|ERG_uc011aek.2_Missense_Mutation_p.T175M|ERG_uc010gnv.3_Missense_Mutation_p.T151M|ERG_uc010gnx.3_Missense_Mutation_p.T250M|ERG_uc011ael.2_Missense_Mutation_p.T274M|ERG_uc002yxb.3_Missense_Mutation_p.T250M|ERG_uc011aem.1_Missense_Mutation_p.T148M|ERG_uc010gny.1_Non-coding_Transcript NM_001243428 NP_001230357 P11308 ERG_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA. 274 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.T274M(1) EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) CGACTGGGGCGTGGGGTGGCC 0.448 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" TRAT1 50852 broad.mit.edu 37 3 108572602 108572602 + Missense_Mutation SNP G G A rs142175794 byFrequency TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr3:108572602G>A uc003dxi.1 + 5 583 c.439G>A c.(439-441)Gtt>Att p.V147I TRAT1_uc010hpx.1_Missense_Mutation_p.V110I NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA. 147 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 AGATGCCAGCGTTTCTAAGAC 0.458 PARP9 83666 broad.mit.edu 37 3 122274913 122274913 + Missense_Mutation SNP G G C TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr3:122274913G>C uc010hri.3 - 3 355 c.210C>G c.(208-210)gaC>gaG p.D70E PARP9_uc003eff.4_Missense_Mutation_p.D35E|PARP9_uc011bjs.2_Missense_Mutation_p.D35E|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.D35E|PARP9_uc003efh.3_Missense_Mutation_p.D70E|PARP9_uc003efj.2_Missense_Mutation_p.D35E NM_001146102 NP_113646 Q8IXQ6 PARP9_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA. 70 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) AAATTTTGAAGTCATTGTGGT 0.353 DBR1 51163 broad.mit.edu 37 3 137880744 137880746 + In_Frame_Del DEL TCA TCA - TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr3:137880744_137880746delTCA uc003erv.3 - 7 1774_1776 c.1620_1622delTGA c.(1618-1623)gatgac>gac p.540_541DD>D DBR1_uc003eru.3_In_Frame_Del_p.489_490DD>D|DBR1_uc003ert.3_In_Frame_Del_p.308_309DD>D NM_016216 NP_057300 Q9UK59 DBR1_HUMAN Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA. 540 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 AGCTGCATCGTCATCATCATCAT 0.399 KIT 3815 broad.mit.edu 37 4 55564507 55564507 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr4:55564507C>T uc010igr.3 + 2 482 c.395C>T c.(394-396)aCg>aTg p.T132M KIT_uc010igs.3_Missense_Mutation_p.T132M NM_000222 NP_000213 P10721 KIT_HUMAN Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA. 132 Ig-like C2-type 2. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.D131N(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GACAACGACACGCTGGTCCGC 0.498 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors AASDH 132949 broad.mit.edu 37 4 57220268 57220268 + Missense_Mutation SNP C C A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr4:57220268C>A uc003hbn.3 - 7 1473 c.1320G>T c.(1318-1320)ttG>ttT p.L440F AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Missense_Mutation_p.L340F|AASDH_uc011caa.2_Missense_Mutation_p.L287F|AASDH_uc011cab.2_Intron|AASDH_uc010ihc.3_Missense_Mutation_p.L440F|AASDH_uc003hbp.3_Missense_Mutation_p.L440F NM_181806 NP_861522 Q4L235 ACSF4_HUMAN Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA. 440 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding p.?(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CTTTTCGTCCCAAAAAAAAAA 0.363 SULT1B1 27284 broad.mit.edu 37 4 70592883 70592883 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr4:70592883C>T uc003hen.3 - 7 1112 c.814G>A c.(814-816)Gcc>Acc p.A272T NM_014465 NP_055280 O43704 ST1B1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA. 272 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 TCATTTTGGGCCACGGTGAAG 0.343 FRAS1 80144 broad.mit.edu 37 4 79447726 79447726 + Missense_Mutation SNP C C G TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr4:79447726C>G uc003hlb.2 + 69 11280 c.10840C>G c.(10840-10842)Ctg>Gtg p.L3614V NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 3609 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CACCATCTACCTGATCCCTTG 0.517 FAT1 2195 broad.mit.edu 37 4 187522529 187522529 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr4:187522529G>A uc003izf.3 - 20 11722 c.11534C>T c.(11533-11535)aCg>aTg p.T3845M NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 3845 Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.T3845M(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTCATTTTCCGTCAGACGGTA 0.413 HNSCC(5;0.00058) PCDHB7 56129 broad.mit.edu 37 5 140553530 140553530 + Missense_Mutation SNP G G C TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr5:140553530G>C uc003lit.3 + 0 1288 c.1114G>C c.(1114-1116)Gac>Cac p.D372H NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 372 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGGATTAGAGACAGAGATTC 0.468 GM2A 2760 broad.mit.edu 37 5 150639411 150639411 + Silent SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr5:150639411C>T uc003ltr.4 + 1 342 c.177C>T c.(175-177)atC>atT p.I59I GM2A_uc011dcr.2_Silent_p.I59I|GM2A_uc003ltt.1_5'UTR NM_000405 NP_000396 P17900 SAP3_HUMAN Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA. 59 I -> V (in dbSNP:rs153477). lysosome|nucleolus sphingolipid activator protein activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCCCATCATCGTTCCTGGAA 0.587 FAT2 2196 broad.mit.edu 37 5 150922530 150922530 + Missense_Mutation SNP C C G TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr5:150922530C>G uc003lue.4 - 8 8171 c.8158G>C c.(8158-8160)Gat>Cat p.D2720H NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 2720 Cadherin 24. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGACTGGATCTTGAGCTGCC 0.478 SLIT3 6586 broad.mit.edu 37 5 168233574 168233574 + Missense_Mutation SNP G G T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr5:168233574G>T uc010jjg.3 - 8 1232 c.812C>A c.(811-813)cCa>cAa p.P271Q SLIT3_uc003mab.3_Missense_Mutation_p.P271Q|SLIT3_uc010jji.2_Missense_Mutation_p.P271Q|SLIT3_uc003mac.1_Missense_Mutation_p.P68Q NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 271 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATTGCAGGATGGGGGCTCCGA 0.567 FOXI1 2299 broad.mit.edu 37 5 169535115 169535115 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr5:169535115C>T uc003mai.4 + 1 682 c.637C>T c.(637-639)Cgc>Tgc p.R213C FOXI1_uc003maj.4_Intron NM_012188 NP_036320 Q12951 FOXI1_HUMAN Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA. 213 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGAAATTTCCGCAGGAAAAG 0.488 Pendred syndrome ARID1B 57492 broad.mit.edu 37 6 157495209 157495209 + Silent SNP C C T rs147853607 TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr6:157495209C>T uc003qqp.3 + 9 3054 c.3054C>T c.(3052-3054)gaC>gaT p.D1018D ARID1B_uc003qqo.3_Silent_p.D1031D|ARID1B_uc003qqn.3_Silent_p.D1018D NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 1018 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TCAAAGCAGACGGCAAAGAAG 0.507 GCC1 79571 broad.mit.edu 37 7 127222986 127222986 + Silent SNP A A G TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr7:127222986A>G uc003vma.3 - 1 1828 c.1410T>C c.(1408-1410)gcT>gcC p.A470A NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA. 470 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CCCCATCAGCAGCCTCCGAGC 0.542 OR2A25 392138 broad.mit.edu 37 7 143771552 143771552 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr7:143771552G>A uc011ktx.2 + 0 240 c.240G>A c.(238-240)atG>atA p.M80I NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M80I(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TGCCCCAGATGCTGGTGAACC 0.547 ABCB8 11194 broad.mit.edu 37 7 150737710 150737710 + Missense_Mutation SNP C C G TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr7:150737710C>G uc003wil.4 + 11 1521 c.1428C>G c.(1426-1428)aaC>aaG p.N476K ABCB8_uc010lpw.1_Missense_Mutation_p.N348K|ABCB8_uc010lpx.3_Missense_Mutation_p.N459K|ABCB8_uc011kvd.2_Missense_Mutation_p.N371K|ABCB8_uc003wim.4_Missense_Mutation_p.N254K|ABCB8_uc003wik.4_Missense_Mutation_p.N459K NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA. 476 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATTTCAGAACGTCTGCTTCA 0.632 SGK223 157285 broad.mit.edu 37 8 8235473 8235473 + Missense_Mutation SNP G G T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr8:8235473G>T uc003wsh.4 - 1 446 c.446C>A c.(445-447)cCt>cAt p.P149H NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 149 ATP binding|non-membrane spanning protein tyrosine kinase activity ATTGCCATCAGGGGAGGTAGA 0.642 PRKDC 5591 broad.mit.edu 37 8 48869810 48869810 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr8:48869810C>T uc003xqi.3 - 2 302 c.245G>A c.(244-246)aGa>aAa p.R82K PRKDC_uc003xqj.3_Missense_Mutation_p.R82K|MCM4_uc003xqk.2_5'Flank|MCM4_uc003xql.2_5'Flank|MCM4_uc011ldi.2_5'Flank|MCM4_uc010lxw.2_5'Flank NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 82 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GATTTCTTCTCTACATTCACG 0.318 Non-homologous end-joining TSNARE1 203062 broad.mit.edu 37 8 143425640 143425640 + Silent SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr8:143425640G>A uc003ywj.3 - 2 471 c.432C>T c.(430-432)caC>caT p.H144H TSNARE1_uc011lju.2_Silent_p.H144H|TSNARE1_uc003ywk.3_Silent_p.H144H|TSNARE1_uc003ywl.4_Intron NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA. 144 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ACAGCAGCTGGTGGTGCTTGC 0.667 ZNF658 26149 broad.mit.edu 37 9 40772759 40772759 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr9:40772759G>A uc004abs.2 - 4 2668 c.2516C>T c.(2515-2517)aCa>aTa p.T839I ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.T839I NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN Homo sapiens zinc finger protein 658 (ZNF658), mRNA. 839 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ACAGAGGTGTGTTCTTTGGGA 0.428 SAPCD2 89958 broad.mit.edu 37 9 139959203 139959203 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr9:139959203C>T uc011men.2 - 5 1209 c.1093G>A c.(1093-1095)Gag>Aag p.E365K NM_178448 NP_848543 Q86UD0 CI140_HUMAN Homo sapiens chromosome 9 open reading frame 140 (C9orf140), mRNA. 365 cytoplasm|nucleus TTCTCCTGCTCCAGCTGCGTG 0.647 OREG0019628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TUBBP5 643224 broad.mit.edu 37 9 141071420 141071420 + Missense_Mutation SNP G G A rs147421666 by1000genomes TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chr9:141071420G>A uc010ncq.3 + 4 Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA. p.D347N(3) CTGGTTCCCCGACAACGTAAA 0.512 HCCS 3052 broad.mit.edu 37 X 11139917 11139917 + Missense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chrX:11139917G>A uc004cul.2 + 6 974 c.794G>A c.(793-795)cGt>cAt p.R265H HCCS_uc004cuk.3_Missense_Mutation_p.R265H|HCCS_uc004cuj.3_Missense_Mutation_p.R265H NM_001171991 NP_005324 P53701 CCHL_HUMAN Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA. 265 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 GCTTGGTGGCGTTGGACCTCG 0.428 MAGEB6 158809 broad.mit.edu 37 X 26212632 26212632 + Silent SNP G G A rs141448892 TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chrX:26212632G>A uc022buc.1 + 0 669 c.669G>A c.(667-669)aaG>aaA p.K223K MAGEB6_uc004dbr.3_Silent_p.K223K NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 223 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ACATGCTGAAGTGTGTCCGCA 0.463 CXorf22 170063 broad.mit.edu 37 X 35985763 35985763 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chrX:35985763C>T uc004ddj.3 + 9 1694 c.1628C>T c.(1627-1629)aCg>aTg p.T543M CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 543 p.P542P(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 CGTAATCCCACGGGAAAGTTT 0.353 ZNF157 7712 broad.mit.edu 37 X 47272290 47272290 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chrX:47272290C>T uc004dhr.1 + 3 887 c.818C>T c.(817-819)cCc>cTc p.P273L NM_003446 NP_003437 P51786 ZN157_HUMAN Homo sapiens zinc finger protein 157 (ZNF157), mRNA. 273 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GGGGAGAAACCCTATGAATGT 0.448 MORF4L2 9643 broad.mit.edu 37 X 102931771 102931771 + Missense_Mutation SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chrX:102931771C>T uc022cbw.1 - 0 185 c.185G>A c.(184-186)cGc>cAc p.R62H MORF4L2_uc004ekw.3_Missense_Mutation_p.R62H|MORF4L2_uc004ela.3_Missense_Mutation_p.R62H|MORF4L2_uc004elb.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekx.3_Missense_Mutation_p.R62H|MORF4L2_uc004eky.3_Missense_Mutation_p.R62H|MORF4L2_uc010nos.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekz.3_Missense_Mutation_p.R62H|MORF4L2_uc011mry.2_Missense_Mutation_p.R62H|MORF4L2_uc011mrz.2_Missense_Mutation_p.R62H|MORF4L2_uc004elc.3_Missense_Mutation_p.R62H|MORF4L2_uc004ele.3_Missense_Mutation_p.R62H|MORF4L2_uc004elf.3_Missense_Mutation_p.R62H|MORF4L2_uc011msa.2_Missense_Mutation_p.R62H|MORF4L2_uc011msb.2_Missense_Mutation_p.R62H|MORF4L2_uc011msc.2_Missense_Mutation_p.R62H|MORF4L2_uc011msd.2_Missense_Mutation_p.R62H|MORF4L2_uc004eld.3_Missense_Mutation_p.R62H NM_012286 NP_036418 Q15014 MO4L2_HUMAN Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA. 62 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7) 13 CTCTGCAGAGCGACCACCCCA 0.532 MID2 11043 broad.mit.edu 37 X 107084129 107084129 + Silent SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chrX:107084129C>T uc004enl.3 + 1 807 c.234C>T c.(232-234)acC>acT p.T78T MID2_uc004enk.3_Silent_p.T78T NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN Homo sapiens midline 2 (MID2), transcript variant 1, mRNA. 78 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 AGTGTCCTACCTGCAGGTATG 0.512 IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chrX:107977802_107977803insC uc004eoc.2 - 0 1805_1806 c.1772_1773insG c.(1771-1773)ggcfs p.G591fs NM_003604 NP_003595 O14654 IRS4_HUMAN Homo sapiens insulin receptor substrate 4 (IRS4), mRNA. 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 ELF4 2000 broad.mit.edu 37 X 129201458 129201458 + Frame_Shift_Del DEL G G - TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chrX:129201458delG uc004evd.4 - 8 1615 c.1230delC c.(1228-1230)cccfs p.P410fs ELF4_uc004eve.4_Frame_Shift_Del_p.P410fs NM_001421 NP_001412 Q99607 ELF4_HUMAN Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA. 410 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CCGACCCCACGGGGGCCACTC 0.592 T ERG AML IGSF1 3547 broad.mit.edu 37 X 130416634 130416634 + Nonsense_Mutation SNP G G A TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chrX:130416634G>A uc004ewe.4 - 6 1313 c.1030C>T c.(1030-1032)Cga>Tga p.R344* IGSF1_uc004ewd.3_Nonsense_Mutation_p.R344*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.R335*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.R324* NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 344 Ig-like C2-type 4. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 ACTGGTCCTCGACACCGTAGG 0.488 DDX26B 203522 broad.mit.edu 37 X 134655171 134655171 + Silent SNP C C T TCGA-28-2509-01A-01D-1494-08 TCGA-28-2509-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a62fe0-cee2-487a-9a8a-4cd98d8380df 36277954-db5f-4e92-b170-db6c5dd82efa g.chrX:134655171C>T uc004eyw.4 + 1 480 c.117C>T c.(115-117)cgC>cgT p.R39R NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA. 39 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) CGCAGCTGCGCGCCCGGGACC 0.632