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 MAP3K19 80122 broad.mit.edu 37 2 135744717 135744717 + Silent SNP C C A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:135744717C>A ENST00000375845.3 - 7 1755 c.1725G>T c.(1723-1725)ccG>ccT p.P575P MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.P592P|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.P462P|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GTCCCAAAGCCGGGAAAATTT 0.438000 41 72 2.40579e-17 2.80308e-17 1 1 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 143 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31809603 31809603 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr10:31809603C>T ENST00000446923.2 + 7 1683 c.1292C>T c.(1291-1293)tCa>tTa p.S431L ZEB1_ENST00000320985.10_Missense_Mutation_p.S447L|ZEB1_ENST00000560721.2_Missense_Mutation_p.S427L|ZEB1_ENST00000542815.3_Missense_Mutation_p.S380L|ZEB1_ENST00000361642.5_Missense_Mutation_p.S448L|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 447 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ATCAATGCTTCACCCATACAA 0.383000 4 64 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33783279 33783279 + Splice_Site SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:33783279C>G ENST00000403687.3 + 16 2321 c.1579_splice c.e16-1 p.D527_splice RASGRP3_ENST00000407811.1_Splice_Site_p.D526_splice|RASGRP3_ENST00000402538.3_Splice_Site_p.D527_splice|AC020594.5_ENST00000437680.1_RNA NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 527 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) ATTTTTCAGACTGTGGAGCCA 0.547000 8 7 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91492823 91492823 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr10:91492823C>T ENST00000416354.1 + 19 2627 c.2555C>T c.(2554-2556)tCa>tTa p.S852L KIF20B_ENST00000260753.4_Intron|KIF20B_ENST00000394289.2_Intron|KIF20B_ENST00000371728.3_Intron|KIF20B_ENST00000478929.1_Intron Q96Q89 KI20B_HUMAN kinesin family member 20B 849 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 GGTACTACTTCAGCTGCCAGC 0.383000 21 18 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62297385 62297385 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:62297385G>T ENST00000378024.4 - 5 4778 c.4504C>A c.(4504-4506)Cat>Aat p.H1502N AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1502 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTGGGCCATGAACCTCCACA 0.468000 84 202 7.427e-35 9.1448e-35 1 1 0 GTF2IRD1 9569 broad.mit.edu 37 7 73960126 73960126 + Silent SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr7:73960126C>T ENST00000476977.1 + 16 3410 c.1719C>T c.(1717-1719)ttC>ttT p.F573F GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Silent_p.F573F|GTF2IRD1_ENST00000424337.2_Silent_p.F573F|GTF2IRD1_ENST00000455841.2_Silent_p.F605F Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 573 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGCTGCTCTTCAACACACGAT 0.622000 41 55 0 0 1 0 0 CDH3 1001 broad.mit.edu 37 16 68679292 68679292 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr16:68679292C>T ENST00000264012.4 + 1 554 c.10C>T c.(10-12)Cct>Tct p.P4S CDH3_ENST00000429102.2_Missense_Mutation_p.P4S|RP11-615I2.2_ENST00000562172.1_RNA|CDH3_ENST00000581171.1_5'UTR NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 4 adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CATGGGGCTCCCTCGTGGACC 0.721000 13 16 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2141816 2141816 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr16:2141816G>A ENST00000262304.4 - 41 11711 c.11503C>T c.(11503-11505)Cgc>Tgc p.R3835C RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R3834C NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3835 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TGCAGGAAGCGCAGCCGGTCG 0.697000 3 15 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44223568 44223568 + Silent SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr19:44223568G>A ENST00000244314.5 + 2 1057 c.858G>A c.(856-858)gcG>gcA p.A286A NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 286 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CAGGGCTGGCGGCCGCCTACG 0.637000 35 69 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56458551 56458551 + Missense_Mutation SNP G G T rs74609186 byFrequency TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:56458551G>T ENST00000370754.5 - 48 12542 c.12543C>A c.(12541-12543)gaC>gaA p.D4181E DST_ENST00000370788.2_Missense_Mutation_p.D1915E|DST_ENST00000361203.3_Missense_Mutation_p.D4001E|DST_ENST00000312431.6_Missense_Mutation_p.D4001E|DST_ENST00000370769.4_Missense_Mutation_p.D4003E|DST_ENST00000244364.6_Missense_Mutation_p.D1589E|DST_ENST00000421834.2_Missense_Mutation_p.D1915E|DST_ENST00000446842.2_Missense_Mutation_p.D3677E Q03001 DYST_HUMAN dystonin 4001 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) CCTTGCCACCGTCTCTCTTGC 0.443000 4 151 0.150653 0.150653 1 1 0 ZC3H15 55854 broad.mit.edu 37 2 187370222 187370222 + Silent SNP T T A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:187370222T>A ENST00000337859.6 + 7 989 c.762T>A c.(760-762)tcT>tcA p.S254S ZC3H15_ENST00000544130.1_Silent_p.S49S NM_018471.2 NP_060941.2 Q8WU90 ZC3HF_HUMAN zinc finger CCCH-type containing 15 254 Required for interaction with DRG1 (By similarity). cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) CTCTAGAATCTTTTCTTGCCT 0.368000 22 35 0 0 1 0 0 SERPINB1 1992 broad.mit.edu 37 6 2836370 2836370 + Missense_Mutation SNP G G C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:2836370G>C ENST00000380739.5 - 5 741 c.539C>G c.(538-540)aCg>aGg p.T180R SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_Missense_Mutation_p.T29R P30740 ILEU_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 1 180 regulation of proteolysis cytoplasm|extracellular space serine-type endopeptidase inhibitor activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2) 13 Ovarian(93;0.0412) OV - Ovarian serous cystadenocarcinoma(45;0.0717) TGCATTCGTCGTGGCTTCTTT 0.393000 28 88 0 0 1 0 0 KCNK7 10089 broad.mit.edu 37 11 65360906 65360906 + Missense_Mutation SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:65360906C>G ENST00000394216.2 - 2 982 c.759G>C c.(757-759)aaG>aaC p.K253N KCNK7_ENST00000394217.2_Intron|KCNK7_ENST00000342202.4_Intron|KCNK7_ENST00000340313.4_Intron NM_005714.1|NM_033455.1 NP_005705.1|NP_258416.1 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 0 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|liver(1)|lung(1) 3 CCAGGCTCCTCTTCCCCCTTC 0.652000 37 53 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18069767 18069767 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr17:18069767C>T ENST00000205890.5 + 61 10218 c.9880C>T c.(9880-9882)Cgg>Tgg p.R3294W MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3294 FERM.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCTCTGGTTCCGGCGTGTGCT 0.577000 42 63 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94404063 94404063 + Silent SNP G G C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr14:94404063G>C ENST00000555019.1 - 9 2182 c.1752C>G c.(1750-1752)gcC>gcG p.A584A ASB2_ENST00000315988.4_Silent_p.A536A NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 536 SOCS box. intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CCTTGATGACGGCCCAGTCCT 0.617000 5 69 0 0 1 0 0 ZNF195 7748 broad.mit.edu 37 11 3380776 3380776 + Missense_Mutation SNP G G C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:3380776G>C ENST00000354599.6 - 4 1350 c.1246C>G c.(1246-1248)Cat>Gat p.H416D ZNF195_ENST00000399602.4_Missense_Mutation_p.H488D|ZNF195_ENST00000429541.2_Missense_Mutation_p.H420D|ZNF195_ENST00000005082.9_Missense_Mutation_p.H465D|ZNF195_ENST00000343338.7_Missense_Mutation_p.H420D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Missense_Mutation_p.H469D NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) TCTTCAGAATGAGTTCTCTTA 0.433000 44 83 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119297190 119297190 + Silent SNP G G C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:119297190G>C ENST00000338891.7 - 12 2918 c.2475C>G c.(2473-2475)ctC>ctG p.L825L FAM184A_ENST00000352896.5_Silent_p.L705L|FAM184A_ENST00000368475.4_Silent_p.L705L|FAM184A_ENST00000521531.1_Silent_p.L825L|RP11-351A11.1_ENST00000518570.1_RNA NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 825 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 GTTGATGGTTGAGTTCTGAGC 0.338000 19 38 0 0 1 0 0 SUPT3H 8464 broad.mit.edu 37 6 44900479 44900479 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:44900479C>T ENST00000371460.1 - 12 1173 c.856G>A c.(856-858)Gag>Aag p.E286K SUPT3H_ENST00000371459.1_Missense_Mutation_p.E275K|SUPT3H_ENST00000371458.1_Missense_Mutation_p.E58K|SUPT3H_ENST00000371461.2_Missense_Mutation_p.E286K|SUPT3H_ENST00000306867.5_Missense_Mutation_p.E275K NM_181356.2 NP_852001.1 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog (S. cerevisiae) 357 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 CTGTGAGCCTCAACACCACAG 0.453000 14 26 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796874 62796874 + RNA SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr17:62796874G>A ENST00000582986.1 - 0 1046 NR_024386.1 GACTCACAGCGAAGCAGGGAG 0.627000 17 22 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 13 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62931543 62931543 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:62931543C>T ENST00000306494.6 - 9 1396 c.1397G>A c.(1396-1398)gGa>gAa p.G466E SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 466 transmembrane transport integral to membrane p.G466V(1) NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 AGTAGCTCTTCCCCTTGGAGT 0.403000 20 150 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738779 176738779 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:176738779G>T ENST00000367662.3 + 16 5524 c.4360G>T c.(4360-4362)Gac>Tac p.D1454Y NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1454 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGGCACTGGGACCAGAATGT 0.473000 29 66 1.68575e-08 1.82708e-08 1 1 0 ANKRD45 339416 broad.mit.edu 37 1 173616137 173616137 + Missense_Mutation SNP T T C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:173616137T>C ENST00000333279.2 - 3 404 c.344A>G c.(343-345)cAt>cGt p.H115R NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 131 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 TGCAGCACAATGTAAGAGTGT 0.413000 26 53 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45992797 45992797 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:45992797G>T ENST00000257821.4 - 7 1105 c.482C>A c.(481-483)gCc>gAc p.A161D PHF21A_ENST00000323180.6_Missense_Mutation_p.A161D|PHF21A_ENST00000418153.2_Missense_Mutation_p.A161D NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 161 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 ACTGTTGATGGCGGTCACCAT 0.547000 14 133 3.45872e-05 3.59786e-05 1 1 0 CACNA1B 774 broad.mit.edu 37 9 140901306 140901306 + Missense_Mutation SNP T T A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr9:140901306T>A ENST00000371372.1 + 16 2207 c.2062T>A c.(2062-2064)Tac>Aac p.Y688N CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.Y688N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.Y689N|CACNA1B_ENST00000371357.1_Missense_Mutation_p.Y689N|CACNA1B_ENST00000371363.1_Missense_Mutation_p.Y688N NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 688 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTCGTCCTTTTACTTCATTGT 0.562000 3 24 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150746204 150746204 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr7:150746204G>A ENST00000357922.4 + 1 826 c.232G>A c.(232-234)Gag>Aag p.E78K ASIC3_ENST00000349064.5_Missense_Mutation_p.E78K|ASIC3_ENST00000297512.8_Missense_Mutation_p.E78K NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 78 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity TGCCCTGGATGAGCGAGAAAG 0.647000 32 42 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79793771 79793771 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr4:79793771C>T ENST00000335016.5 + 13 1778 c.1612C>T c.(1612-1614)Ccg>Tcg p.P538S BMP2K_ENST00000502871.1_Missense_Mutation_p.P538S NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 538 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 TTTTCAGATGCCGCAGTATCA 0.423000 14 24 0 0 1 0 0 PAPL 390928 broad.mit.edu 37 19 39589756 39589756 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr19:39589756G>A ENST00000331256.5 + 4 753 c.479G>A c.(478-480)gGc>gAc p.G160D PAPL_ENST00000594229.1_Missense_Mutation_p.G160D NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 160 extracellular region acid phosphatase activity|metal ion binding ACCCAGCAGGGCATGTATGAC 0.716000 29 75 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56458967 56458967 + Missense_Mutation SNP G G C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:56458967G>C ENST00000370754.5 - 48 12126 c.12127C>G c.(12127-12129)Cag>Gag p.Q4043E DST_ENST00000370788.2_Missense_Mutation_p.Q1777E|DST_ENST00000361203.3_Missense_Mutation_p.Q3863E|DST_ENST00000312431.6_Missense_Mutation_p.Q3863E|DST_ENST00000370769.4_Missense_Mutation_p.Q3865E|DST_ENST00000244364.6_Missense_Mutation_p.Q1451E|DST_ENST00000421834.2_Missense_Mutation_p.Q1777E|DST_ENST00000446842.2_Missense_Mutation_p.Q3539E Q03001 DYST_HUMAN dystonin 3863 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) GCTTGGTGCTGAGAGATGATC 0.458000 54 119 0 0 1 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139765 101139765 + Missense_Mutation SNP T T A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chrX:101139765T>A ENST00000458570.1 - 9 1451 c.121A>T c.(121-123)Aat>Tat p.N41Y ZMAT1_ENST00000372782.3_Missense_Mutation_p.N212Y|ZMAT1_ENST00000540921.1_Missense_Mutation_p.N212Y|ZMAT1_ENST00000494068.1_5'UTR A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 41 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TTCCTTGAATTCTTCACTAGA 0.313000 16 93 0 0 1 0 0 NKD1 85407 broad.mit.edu 37 16 50642227 50642227 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr16:50642227G>T ENST00000268459.3 + 4 439 c.215G>T c.(214-216)aGa>aTa p.R72I NKD1_ENST00000564336.1_3'UTR|RP11-401P9.6_ENST00000379963.1_RNA NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 72 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GACGTGTTGAGAGACACGCTC 0.587000 36 84 3.61848e-18 4.30885e-18 1 1 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 7 18 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89981640 89981640 + Silent SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr5:89981640G>A ENST00000405460.2 + 29 6414 c.6318G>A c.(6316-6318)gcG>gcA p.A2106A NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2106 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.A2106A(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAACTATTGCGCAACTAATTA 0.413000 16 16 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113333 59113333 + Silent SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr14:59113333G>T ENST00000395153.3 + 4 2028 c.1881G>T c.(1879-1881)gcG>gcT p.A627A DACT1_ENST00000556859.1_Silent_p.A383A|DACT1_ENST00000395151.3_Silent_p.A383A|DACT1_ENST00000335867.4_Silent_p.A664A|DACT1_ENST00000541264.2_Silent_p.A383A NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 664 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GACGGGAGGCGGTGGTGGCCA 0.721000 6 9 3.59834e-05 3.72171e-05 1 1 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81443781 81443781 + RNA SNP A A T rs143569743 by1000genomes TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr10:81443781A>T ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GACCACAAAGACGAGGAGGAG 0.622000 4 9 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74914426 74914426 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:74914426C>T ENST00000289575.5 + 13 2298 c.1903C>T c.(1903-1905)Cgt>Tgt p.R635C SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R491C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R519C|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R408C|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R613C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R408C NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 635 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GAGCTGTGGGCGTCGAGCTGT 0.602000 52 127 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158323796 158323796 + Silent SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:158323796C>T ENST00000444681.2 + 1 311 c.18C>T c.(16-18)ctC>ctT p.L6L CD1E_ENST00000368167.3_Silent_p.L6L|CD1E_ENST00000368164.3_Silent_p.L6L|CD1E_ENST00000368160.3_Silent_p.L6L|CD1E_ENST00000368156.1_Silent_p.L6L|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368163.3_Silent_p.L6L|CD1E_ENST00000452291.2_Silent_p.L6L|CD1E_ENST00000368161.3_Silent_p.L6L|CD1E_ENST00000368165.3_Silent_p.L6L|CD1E_ENST00000368166.3_Silent_p.L6L|CD1E_ENST00000368154.1_Silent_p.L6L|CD1E_ENST00000368157.1_Silent_p.L6L|CD1E_ENST00000368155.3_Silent_p.L6L NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 6 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TCCTGTTCCTCCTCTTCGAGG 0.517000 22 35 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105182869 105182869 + Silent SNP A A T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr7:105182869A>T ENST00000257700.2 + 4 519 c.288A>T c.(286-288)tcA>tcT p.S96S RINT1_ENST00000477285.1_3'UTR NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 96 cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TTACAATTTCATCAGAAATTC 0.318000 45 45 0 0 1 0 0 RRN3P1 730092 broad.mit.edu 37 16 21812153 21812153 + RNA SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr16:21812153G>T ENST00000546471.1 - 0 1705 ATGCCTCTGCGAATCCCTATA 0.388000 27 34 8.58068e-18 1.0151e-17 1 1 0 NUP107 57122 broad.mit.edu 37 12 69135728 69135728 + Missense_Mutation SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr12:69135728A>G ENST00000229179.4 + 27 2970 c.2638A>G c.(2638-2640)Atg>Gtg p.M880V NUP107_ENST00000378905.2_Missense_Mutation_p.M641V|NUP107_ENST00000539906.1_Missense_Mutation_p.M851V NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 880 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GTTAGCAGATATGGTATCCTC 0.378000 33 41 0 0 1 0 0 ZNF664 144348 broad.mit.edu 37 12 124496861 124496861 + Missense_Mutation SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr12:124496861A>G ENST00000539644.1 + 6 2000 c.170A>G c.(169-171)aAg>aGg p.K57R RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.K57R|ZNF664_ENST00000337815.4_Missense_Mutation_p.K57R|ZNF664_ENST00000392404.3_Missense_Mutation_p.K57R Q8N3J9 ZN664_HUMAN zinc finger protein 664 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) ACAGGAGAGAAGGTCTATAAA 0.363000 32 47 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39877612 39877612 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:39877612C>T ENST00000373186.4 - 8 1206 c.1069G>A c.(1069-1071)Gct>Act p.A357T MOCS1_ENST00000373195.3_Missense_Mutation_p.A270T|MOCS1_ENST00000373188.2_Missense_Mutation_p.A357T|MOCS1_ENST00000425303.2_Missense_Mutation_p.A357T|MOCS1_ENST00000340692.5_Missense_Mutation_p.A357T|MOCS1_ENST00000373175.4_Missense_Mutation_p.A328T|MOCS1_ENST00000308559.7_Missense_Mutation_p.A357T|MOCS1_ENST00000432280.2_Missense_Mutation_p.A328T NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 357 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) CCCACAGCAGCCCCAATGATT 0.622000 18 160 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151161641 151161641 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr3:151161641G>T ENST00000282466.3 - 5 5093 c.5094C>A c.(5092-5094)agC>agA p.S1698R NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1698 Ig-like C2-type 3. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCTGGACCCTGCTATTCTGTT 0.428000 14 39 0.000308642 0.000313844 1 1 0 MYO5B 4645 broad.mit.edu 37 18 47428976 47428976 + Missense_Mutation SNP C C A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr18:47428976C>A ENST00000285039.7 - 21 3098 c.2799G>T c.(2797-2799)aaG>aaT p.K933N MYO5B_ENST00000324581.6_Missense_Mutation_p.K74N NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 933 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GCTCATCGATCTTCCGCTGCA 0.592000 37 46 9.45814e-24 1.13372e-23 1 1 0 DPYD 1806 broad.mit.edu 37 1 97770841 97770841 + Missense_Mutation SNP T T C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:97770841T>C ENST00000370192.3 - 18 2373 c.2273A>G c.(2272-2274)aAg>aGg p.K758R DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 758 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TGTAGTTCGCTTTGCAATCCC 0.488000 50 37 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39613376 39613376 + Missense_Mutation SNP T T G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr8:39613376T>G ENST00000265708.4 - 16 1771 c.1668A>C c.(1666-1668)caA>caC p.Q556H ADAM2_ENST00000347580.4_Missense_Mutation_p.Q537H|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Intron NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 556 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTCTTGGAATTTGTAATAAAA 0.303000 10 36 0 0 1 0 0 UFL1 23376 broad.mit.edu 37 6 96984253 96984253 + Silent SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:96984253G>A ENST00000369278.4 + 8 855 c.789G>A c.(787-789)caG>caA p.Q263Q NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 263 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity TTTTCAGGCAGAATGGCTATC 0.383000 24 57 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686989 100686989 + Missense_Mutation SNP C C A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr7:100686989C>A ENST00000306151.4 + 3 12356 c.12292C>A c.(12292-12294)Ccc>Acc p.P4098T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4098 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGGACAAAACCCAGCACACG 0.557000 22 204 5.35356e-11 5.9085e-11 1 1 0 IBTK 25998 broad.mit.edu 37 6 82910367 82910367 + Missense_Mutation SNP T T C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:82910367T>C ENST00000306270.7 - 20 3398 c.2849A>G c.(2848-2850)tAt>tGt p.Y950C IBTK_ENST00000510291.1_Missense_Mutation_p.Y950C|IBTK_ENST00000503631.1_Missense_Mutation_p.Y749C NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 950 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TACTTCCAAATAGCTAATATC 0.313000 7 22 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62430206 62430206 + Silent SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr8:62430206G>A ENST00000541428.1 - 24 2080 c.1920C>T c.(1918-1920)atC>atT p.I640I ASPH_ENST00000379454.4_Silent_p.I669I NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 669 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CGGGGTGCATGATGGAATATT 0.493000 18 55 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 3 41 0 0 1 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53956626 53956626 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:53956626C>T ENST00000263634.3 - 4 571 c.437G>A c.(436-438)gGa>gAa p.G146E GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.G184E|ASB3_ENST00000498475.2_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.G181E|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.G73E|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.G73E NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 181 intracellular signal transduction GGAGTTCCATCCACACATAGA 0.383000 18 62 0 0 1 0 0 MTG2 26164 broad.mit.edu 37 20 60775784 60775784 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr20:60775784G>A ENST00000370823.3 + 7 890 c.872G>A c.(871-873)gGt>gAt p.G291D MTG2_ENST00000536470.1_Missense_Mutation_p.G63D|MTG2_ENST00000436421.2_Missense_Mutation_p.G133D NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 CAGAACAGGGGTCTGGGGTCC 0.607000 83 130 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34937698 34937698 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr5:34937698G>A ENST00000382021.2 + 5 933 c.706G>A c.(706-708)Gaa>Aaa p.E236K DNAJC21_ENST00000303525.7_Missense_Mutation_p.E236K|DNAJC21_ENST00000342382.4_Missense_Mutation_p.E236K NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 236 Glu-rich. protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GAGGAAAGCCGAAGAGATGAG 0.542000 38 86 0 0 1 0 0 NCAPH 23397 broad.mit.edu 37 2 97025968 97025968 + Missense_Mutation SNP T T C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:97025968T>C ENST00000455200.1 + 11 1707 c.1412T>C c.(1411-1413)gTa>gCa p.V471A NCAPH_ENST00000427946.1_Missense_Mutation_p.V346A|NCAPH_ENST00000240423.4_Missense_Mutation_p.V482A Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 482 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) GACTTTGATGTATATTTTAGA 0.289000 12 31 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15106498 15106498 + Silent SNP A A T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr10:15106498A>T ENST00000378217.3 + 6 745 c.558A>T c.(556-558)gtA>gtT p.V186V OLAH_ENST00000378228.3_Silent_p.V133V NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 133 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 CAACTCCTGTACATGTAAGTA 0.383000 15 32 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228400227 228400227 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:228400227C>T ENST00000570156.2 + 2 817 c.743C>T c.(742-744)aCg>aTg p.T248M OBSCN_ENST00000284548.11_Missense_Mutation_p.T248M|OBSCN_ENST00000422127.1_Missense_Mutation_p.T248M|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 248 Ig-like 3. 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) CGCACCTGCACGGTGACTGAA 0.741000 17 40 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8384648 8384648 + Missense_Mutation SNP C C A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:8384648C>A ENST00000471889.1 + 2 644 c.259C>A c.(259-261)Ctg>Atg p.L87M SLC45A1_ENST00000289877.8_Missense_Mutation_p.L87M|SLC45A1_ENST00000377479.2_Missense_Mutation_p.L121M Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 87 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CTTCCGGGAGCTGCTTTTCAA 0.652000 5 35 5.18039e-06 5.45146e-06 1 1 0 SLC45A3 85414 broad.mit.edu 37 1 205633661 205633661 + Silent SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:205633661G>A ENST00000367145.3 - 2 419 c.124C>T c.(124-126)Ctg>Ttg p.L42L NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 42 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TCCAGCAGCAGAGGCGGCACA 0.587000 T """ETV1, ETV5, ELK4, ERG""" prostate 55 135 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52534597 52534597 + Silent SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr14:52534597G>A ENST00000216286.5 - 2 512 c.513C>T c.(511-513)cgC>cgT p.R171R NID2_ENST00000541773.1_Silent_p.R118R NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 171 NIDO. basement membrane calcium ion binding|collagen binding p.R171R(1) NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GCAGCGCCCCGCGCTTGACCT 0.632000 75 197 0 0 1 0 0 TOR1AIP1 26092 broad.mit.edu 37 1 179886985 179886985 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:179886985G>A ENST00000435319.3 + 10 1554 c.1363G>A c.(1363-1365)Gat>Aat p.D455N TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.D471N NM_001267578.1|NM_015602.3 NP_001254507.1|NP_056417.2 Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 455 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 TCAAGACAGTGATACTGTCAA 0.458000 29 62 0 0 1 0 0 ANKRD42 338699 broad.mit.edu 37 11 82921384 82921384 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:82921384C>T ENST00000393389.3 + 4 1305 c.373C>T c.(373-375)Cgg>Tgg p.R125W RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R125W|ANKRD42_ENST00000393392.2_Missense_Mutation_p.R97W|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R125W|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R12W|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R125W|ANKRD42_ENST00000526731.1_Missense_Mutation_p.R125W Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 97 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 CCAGGATGACCGGGGATGCAC 0.393000 24 56 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176678812 176678812 + Nonsense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr5:176678812G>T ENST00000439151.2 + 12 4768 c.4723G>T c.(4723-4725)Gag>Tag p.E1575* NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1306*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1306*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1472* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1575 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TGGATTGACTGAGATGCCAAG 0.413000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 20 22 2.32416e-17 2.73164e-17 1 1 0 GRM1 2911 broad.mit.edu 37 6 146480578 146480578 + Silent SNP T T C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:146480578T>C ENST00000392299.2 + 3 1265 c.795T>C c.(793-795)gcT>gcC p.A265A GRM1_ENST00000361719.2_Silent_p.A265A|GRM1_ENST00000355289.4_Silent_p.A265A|GRM1_ENST00000282753.1_Silent_p.A265A|GRM1_ENST00000507907.1_Silent_p.A265A|GRM1_ENST00000492807.2_Silent_p.A265A Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 265 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ACAGCAACGCTGGGGAGAAGA 0.552000 22 38 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215345397 215345397 + Missense_Mutation SNP T T C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:215345397T>C ENST00000444842.2 + 5 844 c.694T>C c.(694-696)Ttt>Ctt p.F232L KCNK2_ENST00000391894.2_Missense_Mutation_p.F217L|KCNK2_ENST00000391895.2_Missense_Mutation_p.F228L NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 232 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ATTTATACTATTTGGCTGTGT 0.393000 28 47 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121732644 121732644 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:121732644G>T ENST00000452319.1 + 9 1387 c.1327G>T c.(1327-1329)Gac>Tac p.D443Y GLI2_ENST00000361492.4_Missense_Mutation_p.D443Y|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.D115Y P10070 GLI2_HUMAN GLI family zinc finger 2 443 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCACTGGGAAGACTGCACCAA 0.597000 21 63 1.40151e-16 1.61575e-16 1 1 0 LBH 81606 broad.mit.edu 37 2 30457289 30457289 + Silent SNP G G C rs141295319 byFrequency TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:30457289G>C ENST00000395323.3 + 2 253 c.45G>C c.(43-45)tcG>tcC p.S15S LBH_ENST00000404397.1_Silent_p.S15S|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_5'UTR|LBH_ENST00000406087.1_Silent_p.S15S|LBH_ENST00000401506.1_Silent_p.S21S NM_030915.3 NP_112177.2 Q53QV2 LBH_HUMAN limb bud and heart development 15 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus endometrium(2)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(172;0.155) ATCTGAGATCGGCCAAGATGA 0.537000 8 74 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984944 140984944 + Missense_Mutation SNP T T G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chrX:140984944T>G ENST00000298296.1 + 7 1400 c.1400T>G c.(1399-1401)cTt>cGt p.L467R MAGEC3_ENST00000536088.1_Missense_Mutation_p.L169R|MAGEC3_ENST00000544766.1_Missense_Mutation_p.L169R|MAGEC3_ENST00000443323.2_Missense_Mutation_p.L89R|MAGEC3_ENST00000409007.1_Missense_Mutation_p.L169R NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 467 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GTGCAGTTTCTTCTCCTCAAA 0.458000 19 49 0 0 1 0 0 GPR35 2859 broad.mit.edu 37 2 241569681 241569681 + Silent SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:241569681C>T ENST00000319838.5 + 6 1254 c.312C>T c.(310-312)atC>atT p.I104I GPR35_ENST00000403859.1_Silent_p.I104I|GPR35_ENST00000438013.2_Silent_p.I135I|GPR35_ENST00000430267.1_Silent_p.I104I|GPR35_ENST00000407714.1_Silent_p.I104I NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 104 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) ACATGAGCATCAGCCTGGTCA 0.692000 21 18 0 0 1 0 0 G3BP1 10146 broad.mit.edu 37 5 151179907 151179907 + Splice_Site SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr5:151179907A>G ENST00000394123.3 + 10 1229 c.1084_splice c.e10+1 p.S362_splice G3BP1_ENST00000543466.1_Splice_Site_p.S180_splice|G3BP1_ENST00000356245.3_Splice_Site_p.S362_splice Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 362 RRM. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) TTTCTTTCAAAGTAGGTTATT 0.383000 13 13 0 0 1 0 0 TM6SF1 53346 broad.mit.edu 37 15 83805347 83805347 + Missense_Mutation SNP C C A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr15:83805347C>A ENST00000322019.9 + 10 1310 c.1036C>A c.(1036-1038)Cct>Act p.P346T TM6SF1_ENST00000379386.4_Missense_Mutation_p.P349T|TM6SF1_ENST00000565774.1_Missense_Mutation_p.P315T|TM6SF1_ENST00000379390.6_3'UTR Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 346 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TGGAGTTCTTCCTCAGCTCTT 0.368000 27 82 2.61193e-14 2.97178e-14 1 1 0 PRRT2 112476 broad.mit.edu 37 16 29825109 29825109 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr16:29825109G>A ENST00000300797.6 + 2 908 c.734G>A c.(733-735)cGc>cAc p.R245H AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Missense_Mutation_p.R245H|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Missense_Mutation_p.R245H Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 245 response to biotic stimulus integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 AGCCTGAGCCGCCACCCCAGC 0.637000 3 55 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678983 100678983 + Missense_Mutation SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr7:100678983C>G ENST00000306151.4 + 3 4350 c.4286C>G c.(4285-4287)aCt>aGt p.T1429S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1429 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTGGGACCACTTCTGCTGAA 0.493000 54 681 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169702093 169702093 + Silent SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:169702093C>T ENST00000333360.7 - 3 223 c.84G>A c.(82-84)acG>acA p.T28T SELE_ENST00000367780.4_Silent_p.T28T|SELE_ENST00000367779.4_Silent_p.T28T|SELE_ENST00000367782.4_Silent_p.T28T|SELE_ENST00000367777.1_Silent_p.T28T|SELE_ENST00000367774.1_Silent_p.T28T|SELE_ENST00000367775.1_Silent_p.T28T|SELE_ENST00000367781.4_Silent_p.T28T|SELE_ENST00000367776.1_Silent_p.T28T|C1orf112_ENST00000498289.1_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 28 C-type lectin. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TCATAGCTTCCGTGGAGGTGT 0.418000 25 58 0 0 1 0 0 IL1B 3553 broad.mit.edu 37 2 113590982 113590982 + Silent SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:113590982C>G ENST00000263341.2 - 4 480 c.270G>C c.(268-270)ctG>ctC p.L90L IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 90 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) AGAAGGTGCTCAGGTCATTCT 0.537000 32 89 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26667762 26667762 + Nonsense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:26667762C>T ENST00000288710.2 + 10 1416 c.1342C>T c.(1342-1344)Cag>Tag p.Q448* DRC1_ENST00000483675.1_3'UTR NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) gcctatttctcAGCAGCCCCA 0.527000 13 36 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87968972 87968972 + Silent SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:87968972A>G ENST00000369577.3 + 8 5668 c.5625A>G c.(5623-5625)aaA>aaG p.K1875K ZNF292_ENST00000339907.4_Silent_p.K1870K NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1875 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CGCCTGTTAAATCAACTGCAG 0.358000 24 41 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119020694 119020694 + Missense_Mutation SNP G G C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:119020694G>C ENST00000307417.3 + 2 383 c.19G>C c.(19-21)Gag>Cag p.E7Q ABCG4_ENST00000531739.1_Missense_Mutation_p.E7Q|ABCG4_ENST00000449422.2_Missense_Mutation_p.E7Q NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 7 cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GAAGGCGCTGGAGGCCGTGGG 0.687000 21 44 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43113017 43113017 + Silent SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:43113017G>A ENST00000230419.4 + 16 2708 c.2487G>A c.(2485-2487)gtG>gtA p.V829V PTK7_ENST00000345201.2_Silent_p.V789V|PTK7_ENST00000481273.1_Silent_p.V837V|PTK7_ENST00000352931.2_Silent_p.V773V|PTK7_ENST00000349241.2_Silent_p.V699V NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 829 Interaction with CTNNB1.|Protein kinase; inactive. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TGGTACTTGTGAAGAGCCTGC 0.587000 38 80 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 105150837 105150837 + Silent SNP C C T rs141459164 TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr12:105150837C>T ENST00000303694.5 + 3 754 c.315C>T c.(313-315)aaC>aaT p.N105N CHST11_ENST00000549260.1_Silent_p.N100N NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 105 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 TGACCCCCAACGACCTGAAGC 0.612000 13 27 0 0 1 0 0 LY96 23643 broad.mit.edu 37 8 74922285 74922285 + Silent SNP C C A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr8:74922285C>A ENST00000284818.2 + 3 343 c.252C>A c.(250-252)acC>acA p.T84T LY96_ENST00000518893.1_Silent_p.T54T NM_015364.4 NP_056179.3 Q9Y6Y9 LY96_HUMAN lymphocyte antigen 96 84 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) CTGTCAACACCATGAATCTTC 0.343000 15 41 8.60227e-14 9.61118e-14 1 1 0 LOC100294341 100294341 broad.mit.edu 37 17 43585917 43585917 + RNA SNP C C A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr17:43585917C>A ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA TGGGGAGACACATGCACAAGA 0.483000 15 43 2.62699e-14 2.97178e-14 1 1 0 PTH 5741 broad.mit.edu 37 11 13513987 13513987 + Missense_Mutation SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:13513987C>G ENST00000282091.1 - 3 427 c.313G>C c.(313-315)Gat>Cat p.D105H PTH_ENST00000529816.1_Missense_Mutation_p.D105H NM_000315.2 NP_000306.1 P01270 PTHY_HUMAN parathyroid hormone 105 bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) ACATTCACATCAGCTTTGTCT 0.428000 18 47 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32841954 32841954 + Silent SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:32841954C>T ENST00000341071.7 - 9 1127 c.1116G>A c.(1114-1116)gaG>gaA p.E372E BSDC1_ENST00000446293.2_Silent_p.E372E|BSDC1_ENST00000449308.1_Silent_p.E355E|BSDC1_ENST00000419121.2_Silent_p.E299E|BSDC1_ENST00000526031.1_Silent_p.E260E|BSDC1_ENST00000413080.1_Silent_p.E294E|BSDC1_ENST00000455895.2_Silent_p.E355E Q9NW68 BSDC1_HUMAN BSD domain containing 1 355 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CCCTCAGAGTCTCTACTCTGG 0.592000 51 170 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135741933 135741933 + Missense_Mutation SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr3:135741933C>G ENST00000334546.2 + 1 357 c.22C>G c.(22-24)Cta>Gta p.L8V PPP2R3A_ENST00000490467.1_Intron|PPP2R3A_ENST00000264977.3_Intron NM_181897.2 NP_871626.1 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 0 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GGAAACATCTCTACGAAGGGA 0.428000 28 52 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139609183 139609183 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr8:139609183G>A ENST00000303045.6 - 62 4842 c.4396C>T c.(4396-4398)Cgg>Tgg p.R1466W COL22A1_ENST00000435777.1_Missense_Mutation_p.R1446W|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1466 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.R1466W(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGAATAAGCCGACGCAGGGTT 0.522000 HNSCC(7;0.00092) 66 202 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 5 58 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 103054880 103054880 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr9:103054880G>A ENST00000262457.2 + 14 2526 c.2341G>A c.(2341-2343)Gac>Aac p.D781N INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Missense_Mutation_p.D685N NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 781 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) CAGGCGGCATGACACAGAACC 0.622000 27 45 0 0 1 0 0 DUS4L 11062 broad.mit.edu 37 7 107207564 107207564 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr7:107207564G>T ENST00000265720.3 + 3 411 c.49G>T c.(49-51)Gat>Tat p.D17Y DUS4L_ENST00000402620.1_5'UTR|DUS4L_ENST00000498786.1_3'UTR NM_001270419.1|NM_181581.2 NP_001257348.1|NP_853559.1 O95620 DUS4L_HUMAN dihydrouridine synthase 4-like (S. cerevisiae) 17 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 AAGAAAAAAAGATCCCATAGA 0.333000 39 32 4.16155e-14 4.67851e-14 1 1 0 SMPD3 55512 broad.mit.edu 37 16 68405206 68405206 + Silent SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr16:68405206G>A ENST00000219334.5 - 3 1482 c.879C>T c.(877-879)ggC>ggT p.G293G SMPD3_ENST00000563226.1_Silent_p.G293G|SMPD3_ENST00000568373.1_Silent_p.G293G NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 293 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) CCGAGGGGCTGCCCAGGCTCC 0.697000 27 32 0 0 1 0 0 ZNF136 7695 broad.mit.edu 37 19 12297828 12297828 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr19:12297828G>A ENST00000343979.4 + 4 775 c.635G>A c.(634-636)cGa>cAa p.R212Q ZNF136_ENST00000398616.2_Missense_Mutation_p.R146Q NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 212 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 AGTAGATTTCGAACACATGAA 0.383000 17 31 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145442148 145442148 + Nonsense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr5:145442148C>T ENST00000511217.1 + 9 2126 c.2074C>T c.(2074-2076)Cga>Tga p.R692* SH3RF2_ENST00000359120.4_Nonsense_Mutation_p.R692*|SH3RF2_ENST00000511705.1_3'UTR Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 692 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTTGCCCACCGAAGTGGCTG 0.627000 22 30 0 0 1 0 0 CLN3 1201 broad.mit.edu 37 16 28500627 28500627 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr16:28500627G>A ENST00000569430.1 - 5 1025 c.206C>T c.(205-207)tCg>tTg p.S69L CLN3_ENST00000357857.9_Missense_Mutation_p.S15L|CLN3_ENST00000565316.1_Missense_Mutation_p.S69L|CLN3_ENST00000354630.5_Missense_Mutation_p.S69L|CLN3_ENST00000357076.5_Missense_Mutation_p.S69L|CLN3_ENST00000535392.1_Missense_Mutation_p.S15L|CLN3_ENST00000395653.4_5'UTR|CLN3_ENST00000360019.2_Missense_Mutation_p.S69L|CLN3_ENST00000359984.7_Missense_Mutation_p.S69L|CLN3_ENST00000357806.7_Missense_Mutation_p.S69L|CLN3_ENST00000568224.1_Missense_Mutation_p.S15L|CLN3_ENST00000333496.9_Missense_Mutation_p.S69L|CLN3_ENST00000355477.5_Missense_Mutation_p.S69L|CLN3_ENST00000567963.1_Missense_Mutation_p.S69L Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 69 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 CTGGTTTCCCGATGTCCTCTT 0.547000 10 19 0 0 1 0 0 FUK 197258 broad.mit.edu 37 16 70507028 70507028 + Missense_Mutation SNP G G C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr16:70507028G>C ENST00000288078.6 + 15 1781 c.1549G>C c.(1549-1551)Gag>Cag p.E517Q FUK_ENST00000378912.2_Missense_Mutation_p.E549Q|FUK_ENST00000571514.1_Missense_Mutation_p.E10Q NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 517 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) GGATGGGGGCGAGGCCCTGCG 0.716000 3 6 0 0 1 0 0 TMEM87B 84910 broad.mit.edu 37 2 112863615 112863615 + Missense_Mutation SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:112863615C>G ENST00000283206.4 + 16 1856 c.1487C>G c.(1486-1488)tCc>tGc p.S496C NM_032824.2 NP_116213.1 Q96K49 TM87B_HUMAN transmembrane protein 87B 496 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1) 19 AAATCAGTTTCCAATGGAACA 0.313000 80 150 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003178 122003178 + Missense_Mutation SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr3:122003178A>G ENST00000498619.1 + 7 2845 c.2407A>G c.(2407-2409)Aag>Gag p.K803E CASR_ENST00000490131.1_Missense_Mutation_p.K793E|CASR_ENST00000296154.5_Missense_Mutation_p.K793E NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 793 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTTTGCCTTCAAGTCCCGGAA 0.542000 17 30 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32844500 32844500 + Missense_Mutation SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr19:32844500A>G ENST00000311921.3 + 2 956 c.764A>G c.(763-765)tAt>tGt p.Y255C ZNF507_ENST00000544431.1_Missense_Mutation_p.Y255C|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.Y255C NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TTTTGTAGTTATACTTGTGGC 0.433000 29 83 0 0 1 0 0 NACA2 342538 broad.mit.edu 37 17 59668091 59668091 + Missense_Mutation SNP C C T rs148387940 byFrequency TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr17:59668091C>T ENST00000521764.1 - 1 472 c.451G>A c.(451-453)Gga>Aga p.G151R NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 151 protein transport cytoplasm|nucleus p.G151*(1) large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) TGAATGTTTCCGACAGCTTCA 0.438000 68 148 0 0 1 0 0 CD40 958 broad.mit.edu 37 20 44751298 44751298 + Missense_Mutation SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr20:44751298C>G ENST00000372285.3 + 4 378 c.306C>G c.(304-306)atC>atG p.I102M CD40_ENST00000372276.3_Missense_Mutation_p.I102M|CD40_ENST00000489304.1_3'UTR NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 102 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) CAGACACCATCTGCACCTGTG 0.592000 Immune Deficiency with Hyper-IgM 34 79 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81232629 81232629 + Missense_Mutation SNP A A C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr16:81232629A>C ENST00000599697.1 - 7 1180 c.1181T>G c.(1180-1182)cTg>cGg p.L394R PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 394 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGACTCGGCCAGGGTTATGTC 0.498000 26 67 0 0 1 0 0 LYSMD3 116068 broad.mit.edu 37 5 89814775 89814775 + Nonsense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr5:89814775G>T ENST00000315948.6 - 3 926 c.782C>A c.(781-783)tCa>tAa p.S261* LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Missense_Mutation_p.Q103K NM_198273.1 NP_938014.1 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain containing 3 261 cell wall macromolecule catabolic process integral to membrane breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 7 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) TGTGATTTTTGAATGTAAATG 0.343000 27 36 2.41591e-17 2.80308e-17 1 1 0 COL22A1 169044 broad.mit.edu 37 8 139845379 139845379 + Missense_Mutation SNP C C A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr8:139845379C>A ENST00000303045.6 - 5 1194 c.748G>T c.(748-750)Gat>Tat p.D250Y COL22A1_ENST00000435777.1_Missense_Mutation_p.D250Y NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 250 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTGAACAAATCCATCAGGTCA 0.463000 HNSCC(7;0.00092) 21 57 2.37509e-13 2.63737e-13 1 1 0 OSBPL9 114883 broad.mit.edu 37 1 52211292 52211292 + Missense_Mutation SNP G G C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:52211292G>C ENST00000371710.3 + 5 639 c.457G>C c.(457-459)Gaa>Caa p.E153Q OSBPL9_ENST00000361556.5_Missense_Mutation_p.E38Q|OSBPL9_ENST00000531828.1_5'UTR|OSBPL9_ENST00000486942.1_Intron|OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E118Q|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E158Q|OSBPL9_ENST00000435686.2_5'UTR|OSBPL9_ENST00000428468.1_Missense_Mutation_p.E135Q|OSBPL9_ENST00000462759.1_5'UTR|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E153Q|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E67Q|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E135Q NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 135 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 AATCTTGATTGAACAATTAAA 0.289000 4 13 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66678188 66678188 + Missense_Mutation SNP A A T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr18:66678188A>T ENST00000360242.5 + 7 1398 c.1281A>T c.(1279-1281)caA>caT p.Q427H CCDC102B_ENST00000584156.1_Missense_Mutation_p.Q427H|CCDC102B_ENST00000319445.6_Missense_Mutation_p.Q427H NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 427 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) TGAACCTTCAACATGCCTACT 0.328000 9 15 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24775399 24775399 + Silent SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr8:24775399A>G ENST00000221166.5 + 3 2813 c.2031A>G c.(2029-2031)aaA>aaG p.K677K NEFM_ENST00000433454.2_Silent_p.K301K|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Silent_p.K638K|NEFM_ENST00000521540.1_Intron P07197 NFM_HUMAN neurofilament, medium polypeptide 677 6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TGGAAGAGAAAGCCAAATCTC 0.473000 24 26 0 0 1 0 0 CCNB1IP1 57820 broad.mit.edu 37 14 20784496 20784496 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr14:20784496G>A ENST00000398169.3 - 5 803 c.187C>T c.(187-189)Cgc>Tgc p.R63C CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.R63C Q9NPC3 CIP1_HUMAN cyclin B1 interacting protein 1, E3 ubiquitin protein ligase 63 chromosome|nucleus ligase activity|metal ion binding|protein binding p.R63C(1) HMGA2/CCNB1IP1(2) breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;8.86e-07)|all cancers(55;4.98e-06) GBM - Glioblastoma multiforme(265;0.0164) AGTTCTGTGCGGACAATATCT 0.502000 T HMGA2 leiomyoma 20 49 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296399 62296399 + Missense_Mutation SNP A A C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:62296399A>C ENST00000378024.4 - 5 5764 c.5490T>G c.(5488-5490)gaT>gaG p.D1830E AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1830 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GACACTCCAGATCAACATCGG 0.512000 17 186 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21268820 21268820 + Missense_Mutation SNP T T A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:21268820T>A ENST00000602326.1 - 12 1260 c.677A>T c.(676-678)gAg>gTg p.E226V EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Missense_Mutation_p.E231V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E220V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E220V|EIF4G3_ENST00000374927.4_Missense_Mutation_p.E220V|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E226V NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 220 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TTTTGGCTTCTCCTCTGGGGA 0.408000 79 67 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70441247 70441247 + Splice_Site SNP T T C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr10:70441247T>C ENST00000373644.4 + 9 5123 c.e9+2 NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CAAAATCAGGTATGTATTGGT 0.368000 9 9 0 0 1 0 0 STIM1 6786 broad.mit.edu 37 11 4112585 4112585 + Nonsense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:4112585C>T ENST00000300737.4 + 12 2184 c.1615C>T c.(1615-1617)Cag>Tag p.Q539* STIM1_ENST00000533977.1_Nonsense_Mutation_p.Q366*|STIM1_ENST00000527651.1_3'UTR NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 539 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) CAAACCTCCTCAGATGAGCCG 0.597000 31 71 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423285 26423285 + Missense_Mutation SNP C C T rs149103381 by1000genomes TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr22:26423285C>T ENST00000335473.7 + 43 7595 c.7345C>T c.(7345-7347)Cgg>Tgg p.R2449W MYO18B_ENST00000536101.1_Missense_Mutation_p.R2449W|MYO18B_ENST00000407587.2_Missense_Mutation_p.R2450W NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2449 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCCAGCTATCCGGAAGCCCCA 0.552000 11 176 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47484397 47484397 + Silent SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr3:47484397G>T ENST00000265565.5 - 2 499 c.87C>A c.(85-87)atC>atA p.I29I SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 29 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) TGAAGAGGATGATGGGGATGG 0.517000 13 19 2.32078e-09 2.53049e-09 1 1 0 TCEB3C 162699 broad.mit.edu 37 18 44555357 44555357 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr18:44555357G>A ENST00000330682.2 - 1 1092 c.857C>T c.(856-858)tCc>tTc p.S286F KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CTCAAAAGCGGACAGCAGATC 0.627000 13 463 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88379766 88379766 + Silent SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr12:88379766C>T ENST00000298699.2 - 11 1167 c.987G>A c.(985-987)gcG>gcA p.A329A C12orf50_ENST00000550553.1_Silent_p.A290A NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 329 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 ATGCATTCTCCGCATTTCGAT 0.468000 38 65 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58978243 58978243 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:58978243C>T ENST00000361050.3 - 1 2181 c.2096G>A c.(2095-2097)gGc>gAc p.G699D NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 699 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) TGCTGCAGTGCCTGGAACCAA 0.498000 5 124 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 4 145 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73717189 73717189 + Silent SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:73717189A>G ENST00000264448.6 + 10 8211 c.8100A>G c.(8098-8100)caA>caG p.Q2700Q ALMS1_ENST00000409009.1_Silent_p.Q2658Q NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2700 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CTTCATCACAAATGCCGTCCC 0.408000 54 131 0 0 1 0 0 TRIM13 10206 broad.mit.edu 37 13 50586468 50586468 + Missense_Mutation SNP T T C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr13:50586468T>C ENST00000378182.3 + 2 1130 c.392T>C c.(391-393)aTt>aCt p.I131T TRIM13_ENST00000356017.4_Missense_Mutation_p.I134T|TRIM13_ENST00000420995.2_Missense_Mutation_p.I131T|TRIM13_ENST00000457662.2_Missense_Mutation_p.I131T|TRIM13_ENST00000298772.5_Missense_Mutation_p.I134T|TRIM13_ENST00000478111.1_Intron NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 131 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TTCTGTTCTATTGAAGATGCC 0.507000 85 44 0 0 1 0 0 SNRPB2 6629 broad.mit.edu 37 20 16717971 16717971 + Silent SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr20:16717971A>G ENST00000246071.6 + 4 519 c.303A>G c.(301-303)aaA>aaG p.K101K SNRPB2_ENST00000377943.5_Silent_p.K101K NM_003092.4 NP_003083.1 P08579 RU2B_HUMAN small nuclear ribonucleoprotein polypeptide B 101 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding large_intestine(2)|lung(2)|urinary_tract(1) 5 TTGCTGACaaagaaaagaaaa 0.348000 16 55 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32635093 32635093 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:32635093G>A ENST00000335185.5 - 16 2814 c.2771C>T c.(2770-2772)tCg>tTg p.S924L NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 924 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) GCAAGGGGTCGAACTGCTCGC 0.378000 31 68 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151208547 151208547 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr5:151208547C>T ENST00000274576.4 - 8 1286 c.994G>A c.(994-996)Gtt>Att p.V332I GLRA1_ENST00000455880.2_Missense_Mutation_p.V332I|GLRA1_ENST00000545569.1_Missense_Mutation_p.V249I NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 332 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACAAAGTTAACGGCAGCATAT 0.512000 53 65 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5469087 5469087 + Missense_Mutation SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr5:5469087C>G ENST00000296564.7 + 15 6430 c.6208C>G c.(6208-6210)Ctt>Gtt p.L2070V NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 2070 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GAGAGCTTTTCTTAATTGGGA 0.318000 44 104 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113860193 113860193 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:113860193G>A ENST00000504030.2 + 9 1590 c.1145G>A c.(1144-1146)gGa>gAa p.G382E HTR3A_ENST00000299961.5_Missense_Mutation_p.G367E|HTR3A_ENST00000355556.2_Missense_Mutation_p.G420E|HTR3A_ENST00000375498.2_Missense_Mutation_p.G388E|HTR3A_ENST00000535865.1_Missense_Mutation_p.G126E|HTR3A_ENST00000506841.2_Missense_Mutation_p.G414E P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 382 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CCAGCCATGGGAAACCACTGC 0.587000 34 132 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52676506 52676506 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr15:52676506G>A ENST00000399231.3 - 15 2009 c.1766C>T c.(1765-1767)cCa>cTa p.P589L MYO5A_ENST00000358212.6_Missense_Mutation_p.P589L|MYO5A_ENST00000553916.1_Missense_Mutation_p.P589L|MYO5A_ENST00000399233.2_Missense_Mutation_p.P589L|MYO5A_ENST00000356338.6_Missense_Mutation_p.P589L NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 589 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) AAATAGTTCTGGTAGCATCTT 0.423000 27 19 0 0 1 0 0 ENTPD5 957 broad.mit.edu 37 14 74439610 74439610 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr14:74439610C>T ENST00000334696.6 - 13 1323 c.1004G>A c.(1003-1005)cGa>cAa p.R335Q ENTPD5_ENST00000557325.1_Missense_Mutation_p.R335Q NM_001249.2 NP_001240.1 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 335 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) GTCAACAGCTCGGTCATAATA 0.527000 77 150 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136320459 136320459 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr9:136320459G>A ENST00000371929.3 + 25 3746 c.3302G>A c.(3301-3303)gGa>gAa p.G1101E ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G1070E|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G1101E NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1101 TSP type-1 8. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ACCTGCCTCGGACCCCAGGCC 0.662000 61 154 0 0 1 0 0 WFDC3 140686 broad.mit.edu 37 20 44405772 44405772 + Missense_Mutation SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr20:44405772C>G ENST00000243938.4 - 5 518 c.435G>C c.(433-435)caG>caC p.Q145H WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Intron NM_080614.1 NP_542181.1 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 145 WAP 3. extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(3)|prostate(1) 5 Myeloproliferative disorder(115;0.0122) ATTTATGCCCCTGGGGACAGG 0.552000 5 58 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52052595 52052595 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:52052595G>T ENST00000340057.1 + 2 267 c.222G>T c.(220-222)tgG>tgT p.W74C NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 74 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) CCTCACCTTGGAATCTCCAGT 0.433000 29 73 2.49534e-26 3.03126e-26 1 1 0 KNG1 3827 broad.mit.edu 37 3 186459915 186459915 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr3:186459915C>T ENST00000265023.4 + 10 1942 c.1730C>T c.(1729-1731)tCa>tTa p.S577L KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000599314.1_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 577 blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) CCTCCTATATCACCAGCTCCC 0.468000 94 50 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144996018 144996018 + Silent SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr8:144996018C>T ENST00000322810.4 - 32 8551 c.8382G>A c.(8380-8382)agG>agA p.R2794R PLEC_ENST00000357649.2_Silent_p.R2661R|PLEC_ENST00000398774.2_Silent_p.R2625R|PLEC_ENST00000345136.3_Silent_p.R2657R|PLEC_ENST00000527096.1_Silent_p.R2680R|PLEC_ENST00000354589.3_Silent_p.R2657R|PLEC_ENST00000436759.2_Silent_p.R2684R|PLEC_ENST00000354958.2_Silent_p.R2635R|PLEC_ENST00000356346.3_Silent_p.R2643R NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2794 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCTCCTGCAGCCTCTGAGCTG 0.692000 4 56 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95921873 95921873 + Silent SNP C C A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr14:95921873C>A ENST00000334258.5 - 5 992 c.978G>T c.(976-978)ctG>ctT p.L326L SYNE3_ENST00000553340.1_Silent_p.L326L|SYNE3_ENST00000554873.1_Silent_p.L83L|SYNE3_ENST00000557275.1_Silent_p.L326L NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 TGGACCGGAGCAGGCCCCGCA 0.637000 53 113 1.83081e-24 2.20918e-24 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228461719 228461719 + Missense_Mutation SNP G G C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:228461719G>C ENST00000570156.2 + 22 6585 c.6511G>C c.(6511-6513)Gag>Cag p.E2171Q OBSCN_ENST00000422127.1_Missense_Mutation_p.E1796Q|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1796Q|OBSCN_ENST00000359599.6_Missense_Mutation_p.E643Q|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1151 Ig-like 22. 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) TGTGGGCGCAGAGGGGCAGGA 0.682000 13 40 0 0 1 0 0 ZDHHC4 55146 broad.mit.edu 37 7 6621830 6621830 + Silent SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr7:6621830G>T ENST00000396706.2 + 5 761 c.318G>T c.(316-318)ctG>ctT p.L106L ZDHHC4_ENST00000405731.3_Silent_p.L106L|ZDHHC4_ENST00000396713.2_Silent_p.L106L|ZDHHC4_ENST00000396709.1_Silent_p.L106L|ZDHHC4_ENST00000396707.2_Silent_p.L106L|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000335965.6_Silent_p.L106L Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 106 integral to membrane acyltransferase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) TGCCCTATCTGCTGCTAGGTG 0.468000 72 248 7.25294e-45 8.99166e-45 1 1 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53897731 53897731 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:53897731G>T ENST00000263634.3 - 10 1600 c.1466C>A c.(1465-1467)cCa>cAa p.P489Q GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.P527Q|ASB3_ENST00000406625.2_Missense_Mutation_p.P524Q|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.P416Q|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.P416Q NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 524 intracellular signal transduction TCTGGGAAGTGGCAGCTGACT 0.433000 10 33 7.48243e-07 8.01373e-07 1 1 0 KLHL1 57626 broad.mit.edu 37 13 70514279 70514279 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr13:70514279G>T ENST00000377844.4 - 4 1666 c.907C>A c.(907-909)Cac>Aac p.H303N KLHL1_ENST00000545028.1_Missense_Mutation_p.H110N NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 303 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ATGAGGAAGTGGCAGCACACT 0.473000 15 9 2.23348e-06 2.378e-06 1 1 0 UGT2B28 54490 broad.mit.edu 37 4 70160521 70160521 + Silent SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr4:70160521A>G ENST00000335568.5 + 6 1586 c.1584A>G c.(1582-1584)agA>agG p.R528R UGT2B28_ENST00000511240.1_3'UTR NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 528 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AGGGAAAAAGAGATTAGTTAT 0.378000 37 77 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122817446 122817446 + Silent SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:122817446C>T ENST00000227349.2 + 6 2172 c.1875C>T c.(1873-1875)ggC>ggT p.G625G C11orf63_ENST00000531316.1_Silent_p.G625G NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 625 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) ATTCTGAAGGCTATCTGTTTC 0.393000 13 33 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121491509 121491509 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr3:121491509C>T ENST00000310864.6 - 14 1676 c.1462G>A c.(1462-1464)Gaa>Aaa p.E488K IQCB1_ENST00000349820.6_Missense_Mutation_p.E355K NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 488 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) TGCAGTCGTTCTTGAGCTTGG 0.517000 41 94 0 0 1 0 0 SLC17A3 10786 broad.mit.edu 37 6 25849663 25849663 + Missense_Mutation SNP C C G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:25849663C>G ENST00000397060.4 - 11 1410 c.1301G>C c.(1300-1302)aGa>aCa p.R434T SLC17A3_ENST00000360657.3_Missense_Mutation_p.R356T|SLC17A3_ENST00000361703.6_Missense_Mutation_p.R356T NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 356 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 CGAAAATCCTCTTGATGCTCC 0.443000 15 42 0 0 1 0 0 SPON2 10417 broad.mit.edu 37 4 1164230 1164230 + Silent SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr4:1164230G>T ENST00000290902.5 - 5 1103 c.771C>A c.(769-771)gtC>gtA p.V257V SPON2_ENST00000431380.1_Silent_p.V257V NM_012445.3 NP_036577.1 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 257 axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) TGCTGGGCAGGACTGGGGCGG 0.647000 56 183 2.08403e-16 2.3874e-16 1 1 0 TP53 7157 broad.mit.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr17:7578413C>T ENST00000420246.2 - 5 649 c.517G>A c.(517-519)Gtg>Atg p.V173M TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 173 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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) CAGCGCCTCACAACCTCCGTC 0.662000 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) 25 22 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153688920 153688920 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chrX:153688920G>A ENST00000369682.3 + 2 572 c.397G>A c.(397-399)Gag>Aag p.E133K NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 133 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAAGCTGGGTGAGCCGCACCA 0.662000 58 45 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49191037 49191037 + Missense_Mutation SNP C C A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr2:49191037C>A ENST00000406846.2 - 10 1042 c.923G>T c.(922-924)aGg>aTg p.R308M FSHR_ENST00000346173.3_Missense_Mutation_p.R246M|FSHR_ENST00000304421.4_Missense_Mutation_p.R282M|FSHR_ENST00000541117.1_Missense_Mutation_p.R44M NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 308 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCTCTGACCCCTAGCCTGAGT 0.388000 Gonadal Dysgenesis, 46 XX 29 89 1.39649e-27 1.70787e-27 1 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137054 40137054 + Silent SNP A A G TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr11:40137054A>G ENST00000278198.2 - 2 2752 c.789T>C c.(787-789)ttT>ttC p.F263F LRRC4C_ENST00000527150.1_Silent_p.F263F|LRRC4C_ENST00000530763.1_Silent_p.F263F|LRRC4C_ENST00000528697.1_Silent_p.F263F Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 263 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GAAGGTTGTCAAAGGCATTCC 0.453000 28 76 0 0 1 0 0 SRMS 6725 broad.mit.edu 37 20 62173919 62173919 + Missense_Mutation SNP C C A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr20:62173919C>A ENST00000217188.1 - 4 701 c.661G>T c.(661-663)Gac>Tac p.D221Y NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 221 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) TCCCACACGTCCTGCCTCGGG 0.692000 21 34 6.44725e-10 7.07244e-10 1 1 0 DAB1 1600 broad.mit.edu 37 1 57480679 57480679 + Missense_Mutation SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:57480679C>T ENST00000371236.2 - 12 1584 c.1321G>A c.(1321-1323)Gag>Aag p.E441K DAB1_ENST00000371234.4_Missense_Mutation_p.E441K|DAB1_ENST00000439789.2_Missense_Mutation_p.E355K|DAB1_ENST00000420954.2_Missense_Mutation_p.E439K|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.E423K|DAB1_ENST00000371231.1_Missense_Mutation_p.E474K O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 474 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GAGAAGGCCTCTGAGGTACAG 0.542000 18 43 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796837 62796837 + RNA SNP C C T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr17:62796837C>T ENST00000582986.1 - 0 1083 NR_024386.1 CAGCTCAAAGCGCCCGTCACT 0.642000 10 35 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105174823 105174823 + Missense_Mutation SNP G G C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr14:105174823G>C ENST00000392634.4 + 9 1898 c.1786G>C c.(1786-1788)Gag>Cag p.E596Q INF2_ENST00000330634.7_Missense_Mutation_p.E596Q NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 596 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CGAGGCTGTGGAGCCCGACTT 0.682000 OREG0022959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 55 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45697483 45697483 + Splice_Site SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr7:45697483G>A ENST00000297323.7 + 6 1328 c.1307_splice c.e6+1 p.G436_splice ADCY1_ENST00000432715.1_Splice_Site_p.G211_splice NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 436 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TGGCCTGCCAGGGTAAGTCGG 0.617000 6 5 0 0 1 0 0 NOC4L 79050 broad.mit.edu 37 12 132633409 132633409 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr12:132633409G>T ENST00000330579.1 + 9 911 c.870G>T c.(868-870)atG>atT p.M290I NOC4L_ENST00000535343.1_3'UTR NM_024078.1 NP_076983.1 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog (S. cerevisiae) 290 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2) 14 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) CCACGCTCATGATCGACTTCC 0.677000 6 20 0.000157383 0.00016094 1 1 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 7 140 --- --- --- --- B4GALT2 8704 broad.mit.edu 37 1 44447007 44447009 + In_Frame_Del DEL AGC AGC - rs72406230 TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:44447007_44447009delAGC ENST00000356836.6 + 2 965_967 c.175_177delAGC c.(175-177)del p.S65del B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 65 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CCCAGCTGCTagcagcagcagca 0.685 7 124 --- --- --- --- SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:160589601delT ENST00000302035.6 - 5 1178 c.829delA c.(829-831)gcfs p.S277fs SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 277 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCGTAAGGCTTTTTTTTTCC 0.433 8 213 --- --- --- --- PPFIA4 8497 broad.mit.edu 37 1 203014590 203014591 + Frame_Shift_Ins INS - - A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr1:203014590_203014591insA ENST00000367240.2 + 7 1288_1289 c.761_762insA c.(760-762)aacfs p.N254fs PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Frame_Shift_Ins_p.N254fs O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 171 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 ACCCTAACAACAACCGTGACTG 0.639 10 26 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 8 81 --- --- --- --- PXT1 222659 broad.mit.edu 37 6 36359653 36359653 + Splice_Site DEL T T - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr6:36359653delT ENST00000454782.2 - 5 784 c.e5-2 RP1-50J22.4_ENST00000411643.1_RNA NM_152990.3 NP_694535.2 Q8NFP0 PXT1_HUMAN peroxisomal, testis specific 1 peroxisome TTGAAGATCCTATTTGAAAAA 0.308 14 74 --- --- --- --- PMS2P3 5387 broad.mit.edu 37 7 75142142 75142142 + RNA DEL A A - rs35519730 TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr7:75142142delA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 tctcaaaaagaaaaaaaaaaa 0.418 4 1 --- --- --- --- STEAP2-AS1 100874100 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA GGTGCGGGCCTCCCCCTTCCCC 0.639 4 4 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 4 4 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77766232 77766232 + Frame_Shift_Del DEL G G - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr8:77766232delG ENST00000521891.2 + 10 7523 c.7075delG c.(7075-7077)tgfs p.V2360fs ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.V2334fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.V2315fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.V2315fs NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2315 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CACTGATCAAGTGGTATACAA 0.493 HNSCC(33;0.089) 13 255 --- --- --- --- CDH17 1015 broad.mit.edu 37 8 95201502 95201503 + Frame_Shift_Del DEL AT AT - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr8:95201502_95201503delAT ENST00000027335.3 - 3 186_187 c.62_63delAT c.(61-63)tfs p.Y21fs CDH17_ENST00000441892.2_Frame_Shift_Del_p.Y21fs|CDH17_ENST00000450165.2_Frame_Shift_Del_p.Y21fs NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 21 integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CCTCTTGGCCATATCCAGTTGC 0.391 46 36 --- --- --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr9:138715799_138715800insT ENST00000389532.4 - 10 1460_1461 c.1396_1397insA c.(1396-1398)cagfs p.Q466fs CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 466 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.460 3 6 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139395110 139395114 + Frame_Shift_Del DEL GCATC GCATC - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr9:139395110_139395114delGCATC ENST00000277541.6 - 31 5899_5903 c.5824_5828delGATGC c.(5824-5829)cfs p.DA1942fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1942 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCGCTTGGCGGCATCAGAGCGTGAG 0.663 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 159 154 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 9 454 --- --- --- --- ARID4A 5926 broad.mit.edu 37 14 58820424 58820427 + Frame_Shift_Del DEL AGAC AGAC - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr14:58820424_58820427delAGAC ENST00000355431.3 + 17 2077_2080 c.1704_1707delAGAC c.(1702-1707)gafs p.ED568fs ARID4A_ENST00000395168.3_Frame_Shift_Del_p.ED568fs|ARID4A_ENST00000553355.1_3'UTR|ARID4A_ENST00000348476.3_Frame_Shift_Del_p.ED568fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.ED568fs NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 568 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AAGATGAGGAAGACATGGAACCCT 0.368 19 52 --- --- --- --- C19orf66 55337 broad.mit.edu 37 19 10202739 10202756 + Splice_Site DEL TCCCTAGAGCCCCACGTG TCCCTAGAGCCCCACGTG - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr19:10202739_10202756delTCCCTAGAGCCCCACGTG ENST00000397881.3 + 8 967_978 c.490_splice c.e8-1 p.164_splice C19orf66_ENST00000253110.11_Splice_Site_p.215_splice|C19orf66_ENST00000591813.1_Splice_Site_p.179_splice Q9NUL5 CS066_HUMAN chromosome 19 open reading frame 66 215 large_intestine(3)|skin(1) 4 CACCTCTCCCTCCCTAGAGCCCCACGTGCCTGGGACAT 0.638 18 89 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 3 5 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44922770 44922770 + Frame_Shift_Del DEL A A - TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89cedca-6aa6-4db3-a4eb-d5da3d45ce6f 39f27aa0-73a0-4255-89fc-99eaef00d894 g.chrX:44922770delA ENST00000377967.4 + 16 1672 c.1631delA c.(1630-1632)cgfs p.Q544fs KDM6A_ENST00000536777.1_Frame_Shift_Del_p.Q499fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.Q551fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.Q465fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 544 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CAGCAGCCACAGCTTGCTCTG 0.562 """D, N, F, S""" """renal, oesophageal SCC, MM""" 32 28 --- --- --- ---