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 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1744 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1749*(9)|p.R2194*(9)|p.R1744*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTAGGTTCCGATTAAAAGG 0.423000 3 61 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49063294 49063294 + Missense_Mutation SNP C C T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chrX:49063294C>T ENST00000376265.2 - 45 5348 c.5287G>A c.(5287-5289)Gca>Aca p.A1763T CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1698T|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1752T NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1763 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GGAGTCCCTGCCTGCTCATCT 0.637000 3 37 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10908139 10908139 + Missense_Mutation SNP G G T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr19:10908139G>T ENST00000314646.5 + 10 1444 c.1280G>T c.(1279-1281)tGt>tTt p.C427F DNM2_ENST00000585892.1_Intron|DNM2_ENST00000408974.4_Missense_Mutation_p.C427F|DNM2_ENST00000359692.6_Intron|DNM2_ENST00000389253.4_Missense_Mutation_p.C427F|DNM2_ENST00000355667.6_Intron P50570 DYN2_HUMAN dynamin 2 427 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) AGTTTGAAGTGTGTTGATCTC 0.517000 """F, N, Splice, Mis, O""" ETP ALL 19 63 6.44725e-10 6.75426e-10 1 1 0 EIF2B1 1967 broad.mit.edu 37 12 124111689 124111689 + Silent SNP G G A rs146748240 byFrequency TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr12:124111689G>A ENST00000424014.2 - 5 592 c.384C>T c.(382-384)caC>caT p.H128H EIF2B1_ENST00000539951.1_Silent_p.H115H|EIF2B1_ENST00000537073.1_Silent_p.H128H NM_001414.3 NP_001405.1 Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 128 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) TGGAGTAGGCGTGAGTCAATA 0.562000 8 120 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890950 32890950 + RNA SNP A A G rs151263854 by1000genomes TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr16:32890950A>G ENST00000330048.5 - 0 3016 NR_003083.2 ATACACCCAGACCACCACCAC 0.637000 3 39 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14543092 14543092 + Silent SNP G G A rs45502401 TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr18:14543092G>A ENST00000358970.5 - 1 53 c.54C>T c.(52-54)ttC>ttT p.F18F POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 18 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TCCTGAGATCGAATGGCTTCT 0.572000 5 114 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195701278 195701278 + RNA SNP C C T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr3:195701278C>T ENST00000427841.1 - 0 1546 NR_003264.2 CAGGCCTGCACGACTCTGCGA 0.537000 5 28 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146857 70146857 + Silent SNP C C T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr4:70146857C>T ENST00000335568.5 + 1 641 c.639C>T c.(637-639)aaC>aaT p.N213N UGT2B28_ENST00000511240.1_Silent_p.N213N NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 213 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) GGGTAAAAAACATGATCTATG 0.348000 4 79 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10299697 10299697 + Nonsense_Mutation SNP G G A TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr17:10299697G>A ENST00000403437.2 - 33 4697 c.4603C>T c.(4603-4605)Caa>Taa p.Q1535* CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1535 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGTTCTACTTGCTTCTTTATT 0.383000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 5 24 0 0 1 0 0 EP400NL 347918 broad.mit.edu 37 12 132589649 132589649 + Missense_Mutation SNP C C T rs34521142 by1000genomes TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr12:132589649C>T ENST00000376625.4 + 1 1110 c.1084C>T c.(1084-1086)Cac>Tac p.H362Y EP400NL_ENST00000361109.5_Missense_Mutation_p.H209Y|EP400NL_ENST00000389560.2_Missense_Mutation_p.H293Y|EP400NL_ENST00000392352.1_Missense_Mutation_p.H230Y|EP400NL_ENST00000443539.2_Missense_Mutation_p.H230Y EP400 N-terminal like endometrium(1)|lung(1)|prostate(2)|urinary_tract(1) 5 GGACTATCATCACCAGGAGAT 0.478000 3 22 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199681 4199681 + Missense_Mutation SNP G G A TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr4:4199681G>A ENST00000296358.4 - 5 904 c.880C>T c.(880-882)Cgc>Tgc p.R294C NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 294 biomineral tissue development extracellular space|integral to membrane p.R294C(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCAACTTTGCGCCCGATGTTC 0.567000 29 71 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29562639 29562639 + Missense_Mutation SNP C C G TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr17:29562639C>G ENST00000358273.4 + 28 4102 c.3719C>G c.(3718-3720)gCt>gGt p.A1240G NF1_ENST00000356175.3_Missense_Mutation_p.A1240G NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1240 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GATGAACTAGCTCGAGTTCTG 0.383000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 10 250 0 0 1 0 0 MROH6 642475 broad.mit.edu 37 8 144652155 144652155 + Missense_Mutation SNP G G T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr8:144652155G>T ENST00000398882.3 - 7 1380 c.1124C>A c.(1123-1125)cCg>cAg p.P375Q NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 GAGACGCTGCGGGTCGTCCGC 0.647000 3 70 1 1 1 1 0 MYH10 4628 broad.mit.edu 37 17 8449945 8449945 + Missense_Mutation SNP C C A TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr17:8449945C>A ENST00000360416.3 - 12 1333 c.1195G>T c.(1195-1197)Gtg>Ttg p.V399L MYH10_ENST00000269243.4_Missense_Mutation_p.V389L|MYH10_ENST00000396239.1_Missense_Mutation_p.V389L|MYH10_ENST00000379980.4_Missense_Mutation_p.V405L NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 389 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 AACTCCATCACATTCATCCCA 0.433000 3 55 1 1 1 1 0 PTPRK 5796 broad.mit.edu 37 6 128297888 128297888 + Missense_Mutation SNP A A G TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr6:128297888A>G ENST00000368227.3 - 28 4300 c.3934T>C c.(3934-3936)Tat>Cat p.Y1312H PTPRK_ENST00000368207.3_Missense_Mutation_p.Y1327H|PTPRK_ENST00000368213.5_Missense_Mutation_p.Y1301H|PTPRK_ENST00000368210.3_Missense_Mutation_p.Y1313H|PTPRK_ENST00000532331.1_Missense_Mutation_p.Y1317H|PTPRK_ENST00000368226.4_Missense_Mutation_p.Y1295H|PTPRK_ENST00000368215.3_Missense_Mutation_p.Y1294H Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1294 Tyrosine-protein phosphatase 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ATGGGGCCATATCGTAGCATC 0.398000 3 63 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43161859 43161859 + Silent SNP G G A TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr21:43161859G>A ENST00000352483.2 - 9 1702 c.1638C>T c.(1636-1638)aaC>aaT p.N546N RIPK4_ENST00000332512.3_Silent_p.N498N|RIPK4_ENST00000544709.1_Silent_p.N435N|RIPK4_ENST00000542057.1_Silent_p.N435N Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 498 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CATCCTTGGCGTTGACACTGA 0.632000 8 102 0 0 1 0 0 AP1S1 1174 broad.mit.edu 37 7 100799992 100799992 + Missense_Mutation SNP G G C TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr7:100799992G>C ENST00000337619.5 + 2 239 c.121G>C c.(121-123)Gct>Cct p.A41P NM_001283.3 NP_001274.1 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 subunit 41 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2) 8 Lung NSC(181;0.168)|all_lung(186;0.215) GGTTGTCCTGGCTCGAAAGCC 0.537000 4 17 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 30 60 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50036431 50036431 + Silent SNP C C G TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr12:50036431C>G ENST00000261897.1 + 20 2537 c.1986C>G c.(1984-1986)ctC>ctG p.L662L PRPF40B_ENST00000380281.1_Silent_p.L675L|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.L697L Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 675 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 GGATCCGGCTCTTCCGGGAGT 0.557000 25 24 0 0 1 0 0 RASD2 23551 broad.mit.edu 37 22 35947956 35947956 + Silent SNP C C T rs144245051 TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr22:35947956C>T ENST00000216127.4 + 3 1320 c.678C>T c.(676-678)gaC>gaT p.D226D NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 226 Interaction with GNB1, GNB2 and GNB3. locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity p.D226D(1) endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 AGGAGATGGACGCCTATGGCA 0.642000 21 44 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86312652 86312652 + Silent SNP G G A TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr15:86312652G>A ENST00000337975.5 - 2 664 c.390C>T c.(388-390)caC>caT p.H130H KLHL25_ENST00000536947.1_Silent_p.H130H|KLHL25_ENST00000559131.1_Intron NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 130 cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 CCCGCACATCGTGGAACTGCA 0.622000 10 53 0 0 1 0 0 IL17F 112744 broad.mit.edu 37 6 52103580 52103580 + Missense_Mutation SNP C C T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr6:52103580C>T ENST00000336123.4 - 2 309 c.202G>A c.(202-204)Gtt>Att p.V68I NM_052872.3 NP_443104.1 Q96PD4 IL17F_HUMAN interleukin 17F 68 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) GACATGGAAACGCGCTGGTTT 0.448000 26 39 0 0 1 0 0 TIGIT 201633 broad.mit.edu 37 3 114026861 114026861 + Silent SNP A A G TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr3:114026861A>G ENST00000481065.1 + 5 3434 c.819A>G c.(817-819)gcA>gcG p.A273A TIGIT_ENST00000486257.1_Silent_p.A206A|TIGIT_ENST00000383671.3_Silent_p.A206A|TIGIT_ENST00000496848.1_3'UTR Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 206 negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 CAGAAGCTGCACCTGCTGGGC 0.572000 42 83 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T413I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 TCCAGTGTGAGTTCTTTCATG 0.418000 5 138 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223567391 223567391 + Missense_Mutation SNP C C T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr1:223567391C>T ENST00000366875.3 + 1 677 c.574C>T c.(574-576)Cgg>Tgg p.R192W NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 192 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) TCCCTCGGAGCGGTCTTCTGT 0.597000 53 71 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91347873 91347873 + Missense_Mutation SNP G G A TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr12:91347873G>A ENST00000358859.2 - 1 1080 c.647C>T c.(646-648)gCg>gTg p.A216V CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 GGCCTTCTGCGCCCGCAGCGC 0.647000 4 109 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156104684 156104684 + Missense_Mutation SNP A A G TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr1:156104684A>G ENST00000368300.4 + 4 940 c.728A>G c.(727-729)gAt>gGt p.D243G LMNA_ENST00000392353.3_Missense_Mutation_p.D162G|LMNA_ENST00000368297.1_Missense_Mutation_p.D162G|LMNA_ENST00000368301.2_Missense_Mutation_p.D243G|LMNA_ENST00000473598.2_Missense_Mutation_p.D144G|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.D243G|LMNA_ENST00000347559.2_Missense_Mutation_p.D243G|LMNA_ENST00000368299.3_Missense_Mutation_p.D243G|LMNA_ENST00000448611.2_Missense_Mutation_p.D131G NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 243 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) CGGCTGGCGGATGCGCTGCAG 0.582000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 19 77 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22322990 22322990 + Splice_Site SNP C C A TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr22:22322990C>A ENST00000398793.2 - 7 1173 c.e7+1 TOP3B_ENST00000413067.2_Splice_Site|TOP3B_ENST00000357179.5_Splice_Site NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) AGGCAAGGAACCTTGGCCTGC 0.552000 19 58 5.26018e-13 5.64507e-13 1 1 0 MUC13 56667 broad.mit.edu 37 3 124632003 124632003 + Missense_Mutation SNP G G A rs148368651 TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr3:124632003G>A ENST00000311075.3 - 8 1204 c.1166C>T c.(1165-1167)gCg>gTg p.A389V NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 389 EGF-like 3. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GGGCACGCACGCACACTCAGG 0.478000 3 54 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41763470 41763470 + Missense_Mutation SNP G G A TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr19:41763470G>A ENST00000301178.4 + 19 2459 c.2269G>A c.(2269-2271)Gag>Aag p.E757K AXL_ENST00000359092.3_Missense_Mutation_p.E748K|AXL_ENST00000593513.1_Missense_Mutation_p.E489K NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 757 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GGAGAACAGCGAGATTTATGA 0.557000 5 98 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 3 40 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 5 124 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25677957 25677957 + Silent SNP G G A TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr4:25677957G>A ENST00000382051.3 + 13 1709 c.1659G>A c.(1657-1659)cgG>cgA p.R553R SLC34A2_ENST00000504570.1_Silent_p.R552R|SLC34A2_ENST00000503434.1_Silent_p.R552R NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 553 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CCGGCTGGCGGGTGCTGGTTG 0.597000 T ROS1 NSCLC 6 145 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118957048 118957048 + Silent SNP C C T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr10:118957048C>T ENST00000334549.1 + 1 49 c.49C>T c.(49-51)Ctg>Ttg p.L17L NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 17 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CCCAGAGGCCCTGGGAAAGCT 0.632000 4 68 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 71 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114058211 114058211 + Missense_Mutation SNP T T G TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr3:114058211T>G ENST00000462705.1 - 12 2469 c.1648A>C c.(1648-1650)Aag>Cag p.K550Q ZBTB20_ENST00000357258.3_Missense_Mutation_p.K550Q|ZBTB20_ENST00000393785.2_Missense_Mutation_p.K550Q|ZBTB20_ENST00000464560.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000481632.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000474710.1_Missense_Mutation_p.K623Q|ZBTB20_ENST00000471418.1_Missense_Mutation_p.K550Q NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 623 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) ACCATGTGCTTGATAAGGTAA 0.527000 4 96 0 0 1 0 0 KRT15 3866 broad.mit.edu 37 17 39673185 39673185 + Missense_Mutation SNP C C T rs138271368 TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr17:39673185C>T ENST00000254043.3 - 3 4198 c.613G>A c.(613-615)Gtt>Att p.V205I KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I NM_002275.3 NP_002266.2 P19012 K1C15_HUMAN keratin 15 205 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton p.V205I(3) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) TCAGCCTCAACGCCCTGGCGC 0.612000 13 69 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81609744 81609744 + Missense_Mutation SNP G G A rs146403935 by1000genomes TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr14:81609744G>A ENST00000541158.2 + 11 1664 c.1342G>A c.(1342-1344)Gtc>Atc p.V448I TSHR_ENST00000298171.2_Missense_Mutation_p.V448I|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 448 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CAAACTGAACGTCCCCCGCTT 0.517000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 12 163 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78422268 78422269 + Frame_Shift_Ins INS - - T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr1:78422268_78422269insT ENST00000370767.1 - 17 1780_1781 c.1693_1694insA c.(1693-1695)taafs p.*565fs FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.*586fs|FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.*565fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 565 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TTGTCCATTAGTTTGAGTTGTA 0.406 """F, N""" oligodendroglioma 54 41 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910678 2910679 + RNA INS - - C rs140675846 by1000genomes TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr2:2910678_2910679insC ENST00000457478.1 - 0 594 caccccctcttcccagcccaca 0.703 4 6 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 3061511 3061513 + RNA DEL TGG TGG - TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr2:3061511_3061513delTGG ENST00000457478.1 - 0 438 gcaaagataatggtggtggtggt 0.448 2 4 --- --- --- --- BIRC6 57448 broad.mit.edu 37 2 32706407 32706407 + Frame_Shift_Del DEL T T - TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr2:32706407delT ENST00000421745.2 + 38 7562 c.7428delT c.(7426-7428)tcfs p.S2476fs NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2476 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CTCTGTCCTCTTTGGAAAAAG 0.333 10 105 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 5 3 --- --- --- --- PRIM1 5557 broad.mit.edu 37 12 57136804 57136804 + Frame_Shift_Del DEL T T - TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr12:57136804delT ENST00000338193.6 - 7 751 c.715delA c.(715-717)gcfs p.S239fs NM_000946.2 NP_000937.1 P49642 PRI1_HUMAN primase, DNA, polypeptide 1 (49kDa) 239 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm DNA primase activity|metal ion binding kidney(1)|lung(6)|prostate(1) 8 TTATCCCAGCTTTCTTTATTT 0.299 2 4 --- --- --- --- BTBD1 53339 broad.mit.edu 37 15 83687454 83687457 + Splice_Site DEL CTTA CTTA - TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr15:83687454_83687457delCTTA ENST00000261721.4 - 7 1493 c.e7+1 RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Splice_Site|RP11-382A20.5_ENST00000566841.1_RNA NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) GTGCATGACTCTTACTTTGAGTGT 0.441 22 55 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361740 9361741 + Frame_Shift_Ins INS - - T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr19:9361740_9361741insT ENST00000456448.1 + 1 135_136 c.21_22insT c.(19-24)ctttttfs p.LF7fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TTCCAATTCTCTTTTTTTTTTT 0.386 2 4 --- --- --- --- CTD-2666L21.1 0 broad.mit.edu 37 19 12305944 12305944 + RNA DEL G G - TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr19:12305944delG ENST00000426044.1 + 0 113 CCAGACACCTGGAAGCCGGAA 0.637 6 5 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42792020 42792021 + Frame_Shift_Del DEL AG AG - TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89a5c656-38cc-4852-ac49-3a7ca6d164a0 1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6 g.chr19:42792020_42792021delAG ENST00000572681.2 + 7 3619_3620 c.3551_3552delAG c.(3550-3552)afs p.K1185fs CIC_ENST00000575354.2_Frame_Shift_Del_p.K276fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K276fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 276 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) AAGGACCGAAAGAAGTCCAGCT 0.649 """Mis, F, S""" oligodendroglioma 5 5 --- --- --- ---