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 ZNF791 163049 broad.mit.edu 37 19 12739914 12739914 + Missense_Mutation SNP A A G TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr19:12739914A>G ENST00000343325.4 + 4 1733 c.1571A>G c.(1570-1572)tAt>tGt p.Y524C ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.Y415C|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.Y492C NM_153358.2 NP_699189.2 Q3KP31 ZN791_HUMAN zinc finger protein 791 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 GAGAAACCCTATAAATGTAAA 0.388000 9 99 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48146708 48146708 + Missense_Mutation SNP G G C TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr11:48146708G>C ENST00000418331.2 + 6 1415 c.1063G>C c.(1063-1065)Gga>Cga p.G355R PTPRJ_ENST00000440289.2_Missense_Mutation_p.G355R NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 355 Fibronectin type-III 3. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TGGCACAGAAGGACAGCCCCA 0.532000 14 79 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100092841 100092841 + Missense_Mutation SNP C C G TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr9:100092841C>G ENST00000375202.2 + 32 3550 c.2198C>G c.(2197-2199)tCt>tGt p.S733C CCDC180_ENST00000529487.1_Missense_Mutation_p.S733C|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.S730C|CCDC180_ENST00000357054.1_Missense_Mutation_p.S872C|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR coiled-coil domain containing 180 AAAGAAGGCTCTATTCAGGGA 0.463000 13 27 0 0 1 0 0 LBH 81606 broad.mit.edu 37 2 30457303 30457303 + Missense_Mutation SNP A A G TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr2:30457303A>G ENST00000395323.3 + 2 267 c.59A>G c.(58-60)gAg>gGg p.E20G LBH_ENST00000407930.2_Missense_Mutation_p.E3G|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000406087.1_Missense_Mutation_p.E20G|LBH_ENST00000404397.1_Missense_Mutation_p.E20G|LBH_ENST00000401506.1_Missense_Mutation_p.E26G NM_030915.3 NP_112177.2 Q53QV2 LBH_HUMAN limb bud and heart development 20 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus endometrium(2)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(172;0.155) AAGATGACTGAGGTGATGATG 0.537000 3 164 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42262982 42262982 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr22:42262982G>A ENST00000361204.4 + 2 402 c.236G>A c.(235-237)aGc>aAc p.S79N NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 79 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcaggggcagcagcagcGGA 0.602000 3 88 0 0 1 0 0 MMP24 10893 broad.mit.edu 37 20 33839758 33839758 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr20:33839758G>A ENST00000246186.6 + 3 531 c.446G>A c.(445-447)cGt>cAt p.R149H EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.1_RNA NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 149 Poly-Arg. proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) CACTTAAGCCGTAGGCGGAGA 0.547000 4 188 0 0 1 0 0 VTA1 51534 broad.mit.edu 37 6 142468447 142468447 + Missense_Mutation SNP C C A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr6:142468447C>A ENST00000367630.4 + 1 81 c.23C>A c.(22-24)cCc>cAc p.P8H VTA1_ENST00000452973.2_5'UTR|VTA1_ENST00000367621.1_5'UTR NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 8 Interaction with CHMP5.|Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) GCACCGCTGCCCCCGCTCCCC 0.612000 OREG0017699 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 88 5.9392e-07 6.39606e-07 1 1 0 MAPK8IP2 23542 broad.mit.edu 37 22 51044095 51044095 + Silent SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr22:51044095G>A ENST00000399908.2 + 5 1865 c.1149G>A c.(1147-1149)acG>acA p.T383T MAPK8IP2_ENST00000329492.3_Silent_p.T648T|MAPK8IP2_ENST00000008876.5_Silent_p.T354T|MAPK8IP2_ENST00000341339.4_Silent_p.T269T|MAPK8IP2_ENST00000399912.1_Silent_p.T383T|MAPK8IP2_ENST00000442429.2_Silent_p.T371T NM_016431.3 NP_057515.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 649 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACATGCGCACGGGGGAGCGCG 0.652000 3 58 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38536445 38536445 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr21:38536445G>A ENST00000399017.2 + 32 6010 c.3263G>A c.(3262-3264)aGt>aAt p.S1088N TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.S1088N|TTC3_ENST00000355666.1_Missense_Mutation_p.S1088N NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1088 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GACCAACACAGTAACGAATAT 0.398000 3 93 0 0 1 0 0 KIF25 0 broad.mit.edu 37 6 168430272 168430272 + Missense_Mutation SNP T T A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr6:168430272T>A ENST00000443060.2 + 3 398 c.7T>A c.(7-9)Tgg>Agg p.W3R KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R Q9UIL4 KIF25_HUMAN kinesin family member 25 3 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.W3R(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCAGATGACATGGACCTCAGG 0.612000 4 221 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16799119 16799119 + Silent SNP C C T TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr19:16799119C>T ENST00000187762.2 + 6 928 c.837C>T c.(835-837)ccC>ccT p.P279P NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 279 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 CGGCCATGCCCGCCAAGTCCA 0.657000 25 75 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76751728 76751728 + Silent SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr6:76751728G>A ENST00000369950.3 - 2 372 c.183C>T c.(181-183)ttC>ttT p.F61F IMPG1_ENST00000369963.3_Intron NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 61 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity p.F61F(1)|p.F61L(1) breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTGCCAAATCGAATATTCGTC 0.368000 20 134 0 0 1 0 0 C12orf44 60673 broad.mit.edu 37 12 52470924 52470924 + Missense_Mutation SNP T T C TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr12:52470924T>C ENST00000336854.4 + 4 1085 c.607T>C c.(607-609)Tca>Cca p.S203P RP11-1100L3.7_ENST00000550301.1_RNA NM_001098673.1|NM_021934.4 NP_001092143.1|NP_068753.2 Q9BSB4 ATGA1_HUMAN chromosome 12 open reading frame 44 203 autophagic vacuole assembly pre-autophagosomal structure identical protein binding|protein complex binding endometrium(1)|lung(2)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(357;0.0978) CCTGGGCACCTCAGTCACCAC 0.577000 3 99 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61951642 61951642 + Splice_Site SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr20:61951642G>A ENST00000422202.1 + 24 3164 c.e24-1 COL20A1_ENST00000435874.1_Splice_Site|COL20A1_ENST00000358894.6_Splice_Site|COL20A1_ENST00000326996.6_Splice_Site Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CTGCGTTGCAGTTTCAGCTCC 0.701000 3 98 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400848 195400848 + RNA SNP G G A rs7635190 by1000genomes TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr3:195400848G>A ENST00000445430.1 + 0 1444 TCGCAGAGTCGTGCAGGCCTG 0.552000 4 33 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 3 36 0 0 1 0 0 CENPT 80152 broad.mit.edu 37 16 67862707 67862707 + Silent SNP A A G TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr16:67862707A>G ENST00000562787.1 - 14 1868 c.1320T>C c.(1318-1320)caT>caC p.H440H CENPT_ENST00000564817.1_Silent_p.H385H|CENPT_ENST00000219172.3_Silent_p.H440H|CENPT_ENST00000440851.2_Silent_p.H440H NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 440 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) GCCTAGGGGGATGCCTGACCA 0.582000 3 138 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32475708 32475708 + Nonsense_Mutation SNP C C A rs144123569 by1000genomes TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr2:32475708C>A ENST00000404025.2 - 5 1713 c.1225G>T c.(1225-1227)Gaa>Taa p.E409* NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E409*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E409*|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 409 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity p.E409K(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCCTGCAGTTCGAAATCAAAC 0.473000 3 37 1 1 1 1 0 ZNF335 63925 broad.mit.edu 37 20 44581287 44581287 + Missense_Mutation SNP C C T TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr20:44581287C>T ENST00000322927.2 - 19 2864 c.2764G>A c.(2764-2766)Ggc>Agc p.G922S ZNF335_ENST00000426788.1_Missense_Mutation_p.G767S NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 922 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TAGTGGGTGCCAGCTTCTTTT 0.587000 53 166 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 5 339 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10741777 10741777 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr19:10741777G>A ENST00000586078.1 + 5 399 c.290G>A c.(289-291)aGc>aAc p.S97N SLC44A2_ENST00000407327.4_Missense_Mutation_p.S95N|SLC44A2_ENST00000335757.5_Missense_Mutation_p.S97N NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 97 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) AAATGTGCCAGCCCCCTGGTT 0.463000 3 134 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67833673 67833673 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr1:67833673G>A ENST00000262345.1 + 10 2064 c.1424G>A c.(1423-1425)cGg>cAg p.R475Q IL12RB2_ENST00000371000.1_Missense_Mutation_p.R475Q|IL12RB2_ENST00000541374.1_Missense_Mutation_p.R475Q|IL12RB2_ENST00000544434.1_Missense_Mutation_p.R475Q NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 475 Fibronectin type-III 4. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 AACTGGCTACGGAGTCGACCC 0.507000 19 103 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 3 48 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20044031 20044031 + Silent SNP C C T TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chrX:20044031C>T ENST00000379651.3 - 8 942 c.924G>A c.(922-924)acG>acA p.T308T MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000452324.3_Silent_p.T256T|MAP7D2_ENST00000443379.3_Silent_p.T263T|MAP7D2_ENST00000379643.5_Silent_p.T349T|MAP7D2_ENST00000543767.1_Silent_p.T193T NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 308 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 AGGGAGGTTTCGTTGTCTTTG 0.493000 37 252 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101278051 101278051 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr13:101278051G>A ENST00000342624.5 - 14 1940 c.1682C>T c.(1681-1683)gCt>gTt p.A561V TMTC4_ENST00000328767.5_Missense_Mutation_p.A431V|TMTC4_ENST00000376234.3_Missense_Mutation_p.A542V|TMTC4_ENST00000462211.1_5'UTR NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 542 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TATTTGAACAGCCAAAGACAG 0.368000 4 50 0 0 1 0 0 MTPAP 55149 broad.mit.edu 37 10 30602720 30602720 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr10:30602720G>A ENST00000358107.4 - 10 1956 c.1957C>T c.(1957-1959)Cgg>Tgg p.R653W MTPAP_ENST00000263063.3_Missense_Mutation_p.R523W|MTPAP_ENST00000488290.1_5'UTR Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 523 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 CCCCAGGGCCGATTACTTGAT 0.418000 3 152 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29627259 29627259 + Silent SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr6:29627259G>A ENST00000376894.4 + 2 370 c.252G>A c.(250-252)aaG>aaA p.K84K MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376898.3_Silent_p.K84K|MOG_ENST00000416766.2_Silent_p.K84K|MOG_ENST00000376891.4_Silent_p.K84K|MOG_ENST00000431798.2_Silent_p.K84K|MOG_ENST00000376888.2_Intron|MOG_ENST00000396704.3_Silent_p.K84K|MOG_ENST00000494692.1_Silent_p.K84K|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Silent_p.K84K|MOG_ENST00000376917.3_Silent_p.K84K|MOG_ENST00000376902.3_Silent_p.K84K|MOG_ENST00000533330.2_Silent_p.K84K|MOG_ENST00000483013.1_Intron Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 84 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 GAAATGGCAAGGACCAAGATG 0.547000 3 139 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76867737 76867737 + Missense_Mutation SNP A A G TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr11:76867737A>G ENST00000409709.3 + 6 774 c.502A>G c.(502-504)Aca>Gca p.T168A MYO7A_ENST00000458637.2_Missense_Mutation_p.T168A|MYO7A_ENST00000409893.1_Missense_Mutation_p.T168A|MYO7A_ENST00000409619.2_Missense_Mutation_p.T157A NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 168 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GACGGAGAGCACAAAGCTGAT 0.617000 7 184 0 0 1 0 0 EIF2B5 8893 broad.mit.edu 37 3 183856019 183856019 + Silent SNP C C T TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr3:183856019C>T ENST00000273783.3 + 5 872 c.750C>T c.(748-750)agC>agT p.S250S EIF2B5_ENST00000444495.1_Silent_p.S250S NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 250 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GTCATATCAGCATCTGTTCTC 0.468000 9 96 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37414918 37414918 + Missense_Mutation SNP T T C TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr10:37414918T>C ENST00000374660.1 + 1 134 c.35T>C c.(34-36)aTa>aCa p.I12T ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I12T|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I12T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 68 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AACCTTAATATACAAGACGCC 0.592000 3 39 0 0 1 0 0 PRPF39 55015 broad.mit.edu 37 14 45579424 45579424 + Splice_Site SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr14:45579424G>A ENST00000355765.6 + 9 1473 c.e9+1 NM_017922.3 NP_060392.3 Q86UA1 PRP39_HUMAN pre-mRNA processing factor 39 mRNA processing|RNA splicing nucleus binding breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1) 12 GAACAGCAGGGTAAGAGTGGA 0.418000 3 40 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64599082 64599082 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr14:64599082G>A ENST00000357395.3 + 78 14739 c.3595G>A c.(3595-3597)Gaa>Aaa p.E1199K SYNE2_ENST00000344113.4_Missense_Mutation_p.E4814K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4731K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1199K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4814K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1448K Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4814 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATTTTGGGCAGAACAAGTAAC 0.383000 3 114 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 38 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2369769 2369769 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr16:2369769G>A ENST00000301732.5 - 8 1386 c.686C>T c.(685-687)gCc>gTc p.A229V ABCA3_ENST00000382381.3_Missense_Mutation_p.A229V NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 229 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GCGTGTGGCGGCATCGGCATG 0.637000 3 144 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9640216 9640216 + Missense_Mutation SNP T T C TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr19:9640216T>C ENST00000593003.1 - 6 868 c.391A>G c.(391-393)Agt>Ggt p.S131G ZNF426_ENST00000535489.1_Missense_Mutation_p.S169G|ZNF426_ENST00000589289.1_3'UTR|ZNF426_ENST00000253115.2_Missense_Mutation_p.S169G Q9BUY5 ZN426_HUMAN zinc finger protein 426 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 TTCCCTGTACTTTGAGTTCTC 0.428000 8 78 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32739980 32739980 + Missense_Mutation SNP T T C TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr1:32739980T>C ENST00000333070.4 + 2 150 c.50T>C c.(49-51)aTc>aCc p.I17T LCK_ENST00000373564.3_Missense_Mutation_p.I17T|LCK_ENST00000336890.5_Missense_Mutation_p.I17T NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 17 Interactions with CD4 and CD8 (By similarity). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) ATGGAAAACATCGATGTGTGT 0.577000 T TRB@ T-ALL 4 215 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 3 81 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400841 195400841 + RNA SNP C C A rs7615369 by1000genomes TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr3:195400841C>A ENST00000445430.1 + 0 1437 CTGAGCATCGCAGAGTCGTGC 0.552000 4 39 0.000673444 0.000689869 1 1 0 PVRL4 81607 broad.mit.edu 37 1 161059028 161059030 + In_Frame_Del DEL AGC AGC - TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr1:161059028_161059030delAGC ENST00000368012.3 - 1 359_361 c.57_59delGCT c.(55-60)cta>ct p.LL21del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 21 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCCAGCAGTAGCAGCAGCAGCA 0.567 7 289 --- --- --- --- LRPPRC 10128 broad.mit.edu 37 2 44145165 44145165 + Splice_Site DEL T T - TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr2:44145165delT ENST00000260665.7 - 29 3204 c.3148_splice c.e29+1 p.K1049_splice NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 1049 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGTGCTTGCCTTTTTTTTGGT 0.453 8 57 --- --- --- --- RP11-6B4.1 0 broad.mit.edu 37 3 81115695 81115696 + RNA DEL CT CT - rs147076463 by1000genomes TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr3:81115695_81115696delCT ENST00000482617.1 + 0 60 cctcctcctcctctctctctct 0.515 4 3 --- --- --- --- TUSC1 286319 broad.mit.edu 37 9 25678177 25678178 + In_Frame_Ins INS - - CGC TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr9:25678177_25678178insCGC ENST00000358022.3 - 1 678_679 c.142_143insGCG c.(142-144)ggg>GCGggg p.47_48insA NM_001004125.2 NP_001004125.1 Q2TAM9 TUSC1_HUMAN tumor suppressor candidate 1 47 Gly-rich. kidney(1) 1 all_hematologic(1;0.197) all_neural(3;5.42e-18)|Glioma(3;5.54e-17) GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11) tcgccagcccacgccgccgccg 0.797 3 3 --- --- --- --- TM7SF2 7108 broad.mit.edu 37 11 64879505 64879506 + Frame_Shift_Del DEL CC CC - TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr11:64879505_64879506delCC ENST00000279263.7 + 1 180_181 c.18_19delCC c.(16-21)ggccfs p.GP6fs TM7SF2_ENST00000540748.1_5'UTR|TM7SF2_ENST00000345348.5_Frame_Shift_Del_p.GP6fs NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 6 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCACTCAGGGCCCCCGGGCCCC 0.639 6 12 --- --- --- --- PRPF40B 25766 broad.mit.edu 37 12 50025258 50025258 + Frame_Shift_Del DEL C C - TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr12:50025258delC ENST00000261897.1 + 2 626 c.75delC c.(73-75)atfs p.I25fs PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.I31fs|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 31 Pro-rich. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CACCAGCTATCCCCCCCATGC 0.607 7 362 --- --- --- --- AC026495.1 0 broad.mit.edu 37 15 20563408 20563417 + RNA DEL CCTCTCCCTT CCTCTCCCTT - TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr15:20563408_20563417delCCTCTCCCTT ENST00000581090.1 + 0 48_57 CCTCCCAGAGcctctcccttcctctccctt 0.671 3 4 --- --- --- --- SPTBN5 51332 broad.mit.edu 37 15 42159282 42159282 + Frame_Shift_Del DEL G G - TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr15:42159282delG ENST00000320955.6 - 36 6582 c.6355delC c.(6355-6357)ggfs p.R2119fs NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2119 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCCCGCACCCGGGGGCGCCGG 0.731 2 4 --- --- --- --- ITGB4 3691 broad.mit.edu 37 17 73732157 73732158 + Frame_Shift_Del DEL GT GT - rs121912463 TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr17:73732157_73732158delGT ENST00000200181.3 + 14 1870_1871 c.1683_1684delGT c.(1681-1686)cagtfs p.QC561fs ITGB4_ENST00000450894.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000449880.2_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.QC561fs NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 561 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCATGGGCCAGTGTGTGTGTGA 0.604 8 401 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11180762 11180762 + RNA DEL T T - rs146742149 TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr21:11180762delT ENST00000603265.1 + 0 231 aACTAACTTCTTTTTTTTTTT 0.348 3 3 --- --- --- ---