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 SZT2 23334 broad.mit.edu 37 1 43912679 43912679 + Silent SNP G G A TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr1:43912679G>A ENST00000562955.1 + 65 8955 c.8955G>A c.(8953-8955)gtG>gtA p.V2985V SZT2_ENST00000372442.1_Silent_p.V2143V NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3042 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TGATGCACGTGCACTCGTTCA 0.597 3 43 --- --- --- --- IPO13 9670 broad.mit.edu 37 1 44415596 44415596 + Missense_Mutation SNP T T G TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr1:44415596T>G ENST00000372343.3 + 2 1254 c.592T>G c.(592-594)Tgt>Ggt p.C198G NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 198 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GGCGGTGGAATGTGGGGCTGT 0.622 3 16 --- --- --- --- ATP6V0B 533 broad.mit.edu 37 1 44442867 44442867 + Silent SNP G G C TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr1:44442867G>C ENST00000532642.1 + 7 667 c.570G>C c.(568-570)ggG>ggC p.G190G ATP6V0B_ENST00000236067.4_Silent_p.G143G|ATP6V0B_ENST00000472174.2_Silent_p.G190G|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000498664.1_Silent_p.G143G Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b 190 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(2)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GCCTCTTTGGGGTCATCGTCG 0.557 26 82 --- --- --- --- CCDC88A 55704 broad.mit.edu 37 2 55582770 55582770 + Missense_Mutation SNP G G C TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr2:55582770G>C ENST00000436346.1 - 8 1586 c.745C>G c.(745-747)Ctg>Gtg p.L249V CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 249 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TCCACCGACAGATGTTGTCGA 0.463 34 53 --- --- --- --- SEMA4C 54910 broad.mit.edu 37 2 97530551 97530551 + Missense_Mutation SNP A A G TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr2:97530551A>G ENST00000305476.5 - 9 985 c.853T>C c.(853-855)Tgc>Cgc p.C285R NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 285 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GGGGCAGAGCATGCCAGCCGC 0.632 4 61 --- --- --- --- ACKR2 1238 broad.mit.edu 37 3 42906720 42906720 + Silent SNP C C A TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr3:42906720C>A ENST00000422265.1 + 3 901 c.726C>A c.(724-726)ccC>ccA p.P242P RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Silent_p.P242P|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Silent_p.P242P|KRBOX1_ENST00000426937.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 GGCTGAGGCCCGCAGGCCAGG 0.537 4 167 --- --- --- --- CRYBG3 131544 broad.mit.edu 37 3 97618049 97618049 + Missense_Mutation SNP G G C TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr3:97618049G>C ENST00000182096.4 + 11 2133 c.2069G>C c.(2068-2070)tGc>tCc p.C690S NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 AAATACAAATGCTTTTTTGAC 0.358 25 50 --- --- --- --- SPATA16 83893 broad.mit.edu 37 3 172835445 172835445 + Missense_Mutation SNP T T C TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr3:172835445T>C ENST00000351008.3 - 2 260 c.77A>G c.(76-78)aAc>aGc p.N26S NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 26 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CTTGCTTGTGTTTATCTTTGG 0.433 7 198 --- --- --- --- FRYL 285527 broad.mit.edu 37 4 48551612 48551612 + Nonsense_Mutation SNP C C T TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr4:48551612C>T ENST00000537810.1 - 39 5266 c.4662G>A c.(4660-4662)tgG>tgA p.W1554* FRYL_ENST00000503238.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Nonsense_Mutation_p.W1554* O94915 FRYL_HUMAN FRY-like 1554 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CTTTCAGTCGCCAATTAGAAT 0.438 28 53 --- --- --- --- UGT2B7 7364 broad.mit.edu 37 4 69973826 69973826 + Missense_Mutation SNP C C A TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr4:69973826C>A ENST00000305231.7 + 5 1142 c.1096C>A c.(1096-1098)Cca>Aca p.P366T UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 366 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCTAGGTCATCCAAAGACCAG 0.418 23 82 --- --- --- --- CENPE 1062 broad.mit.edu 37 4 104041395 104041395 + Silent SNP C C T TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr4:104041395C>T ENST00000265148.3 - 44 7328 c.7239G>A c.(7237-7239)gtG>gtA p.V2413V CENPE_ENST00000380026.3_Silent_p.V2292V NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2413 Kinetochore-binding domain. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TGTCATTAGTCACCTCAAGTT 0.323 5 18 --- --- --- --- ENPEP 2028 broad.mit.edu 37 4 111397722 111397722 + Missense_Mutation SNP C C T TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr4:111397722C>T ENST00000265162.5 + 1 494 c.152C>T c.(151-153)cCg>cTg p.P51L NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 51 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GACGGCGGGCCGGGCACTGCG 0.647 4 149 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13735947 13735947 + Silent SNP T T C TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr5:13735947T>C ENST00000265104.4 - 67 11654 c.11550A>G c.(11548-11550)ttA>ttG p.L3850L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3850 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAAGGTCAAATAAGCCCAGAA 0.453 Kartagener syndrome 6 142 --- --- --- --- CCNB1 891 broad.mit.edu 37 5 68470883 68470883 + Silent SNP T T C TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr5:68470883T>C ENST00000256442.5 + 6 1138 c.885T>C c.(883-885)ttT>ttC p.F295F NM_031966.3 NP_114172.1 P14635 CCNB1_HUMAN cyclin B1 295 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole large_intestine(2)|lung(5)|skin(1) 8 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) CTTTAAACTTTGGTCTGGGTC 0.438 6 127 --- --- --- --- KIF20A 10112 broad.mit.edu 37 5 137520549 137520549 + Silent SNP G G A rs114549959 by1000genomes TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr5:137520549G>A ENST00000394894.3 + 14 1963 c.1737G>A c.(1735-1737)caG>caA p.Q579Q KIF20A_ENST00000508792.1_Silent_p.Q561Q NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 579 cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AGGAACGACAGGAAAAGCTAC 0.488 33 88 --- --- --- --- PCDHB10 56126 broad.mit.edu 37 5 140572701 140572701 + Silent SNP A A G TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr5:140572701A>G ENST00000239446.4 + 1 760 c.576A>G c.(574-576)ccA>ccG p.P192P NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 192 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGATATATCCAGAGCTAGTGT 0.502 79 174 --- --- --- --- CDHR2 54825 broad.mit.edu 37 5 176016426 176016426 + Missense_Mutation SNP C C A TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr5:176016426C>A ENST00000510636.1 + 23 3378 c.3104C>A c.(3103-3105)aCc>aAc p.T1035N CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N|CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1035 Cadherin 9. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CTGGAAGCCACCACCACCCTG 0.652 6 111 --- --- --- --- HIST1H2BN 8341 broad.mit.edu 37 6 27806651 27806651 + Missense_Mutation SNP T T G TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr6:27806651T>G ENST00000606613.1 + 1 273 c.212T>G c.(211-213)tTc>tGc p.F71C HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.F71C Q99877 H2B1N_HUMAN histone cluster 1, H2bn 71 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1) 8 AATGACATCTTCGAGCGCATC 0.607 81 168 --- --- --- --- ZC3H12D 340152 broad.mit.edu 37 6 149773804 149773804 + Missense_Mutation SNP G G T TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr6:149773804G>T ENST00000389942.5 - 5 982 c.735C>A c.(733-735)ttC>ttA p.F245L ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F245L|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D 245 cytoplasm|nucleus endonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) TCCTGCTCAGGAAGTTGCTCA 0.612 4 15 --- --- --- --- TMEM139 135932 broad.mit.edu 37 7 142983609 142983609 + Missense_Mutation SNP C C T TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr7:142983609C>T ENST00000359333.3 + 3 851 c.338C>T c.(337-339)cCc>cTc p.P113L AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L NM_001242775.2|NM_001282876.1|NM_001282877.1 NP_001229704.1|NP_001269805.1|NP_001269806.1 Q8IV31 TM139_HUMAN transmembrane protein 139 113 integral to membrane endometrium(1)|lung(4)|ovary(1)|prostate(1) 7 Melanoma(164;0.059) CAACCACCCCCCTACAGCACT 0.577 50 100 --- --- --- --- GIMAP1 170575 broad.mit.edu 37 7 150417391 150417391 + Missense_Mutation SNP A A C TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr7:150417391A>C ENST00000307194.5 + 3 439 c.299A>C c.(298-300)gAg>gCg p.E100A NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGCTGTGAGGAGAGAGGTCAC 0.647 8 70 --- --- --- --- PDGFRL 5157 broad.mit.edu 37 8 17447026 17447026 + Silent SNP G G A TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr8:17447026G>A ENST00000541323.1 + 3 550 c.105G>A c.(103-105)gaG>gaA p.E35E PDGFRL_ENST00000398074.3_Silent_p.E35E|PDGFRL_ENST00000251630.6_Silent_p.E35E NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 35 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) AACCAGGAGAGAATAGAATCA 0.433 16 161 --- --- --- --- PRDM14 63978 broad.mit.edu 37 8 70978696 70978696 + Silent SNP T T C TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr8:70978696T>C ENST00000276594.2 - 5 1158 c.957A>G c.(955-957)ggA>ggG p.G319G NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 319 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TCCCCGTACCTCCTTTTCCAT 0.403 3 181 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113249577 113249577 + Splice_Site SNP A A G TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr8:113249577A>G ENST00000297405.5 - 67 10713 c.10469T>C c.(10468-10470)gTt>gCt p.V3490A CSMD3_ENST00000343508.3_Splice_Site_p.V3450A|CSMD3_ENST00000455883.2_Splice_Site_p.V3321A|CSMD3_ENST00000352409.3_Splice_Site_p.V3420A NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3490 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATCATCAGGAACTGTGAATAG 0.284 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 43 --- --- --- --- TOPORS 10210 broad.mit.edu 37 9 32543932 32543932 + Silent SNP A A C TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr9:32543932A>C ENST00000360538.2 - 3 707 c.591T>G c.(589-591)ggT>ggG p.G197G TOPORS_ENST00000379858.1_Silent_p.G132G NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 197 Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TGTTCACAGGACCACTAGGTG 0.443 7 58 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587261 55587261 + Missense_Mutation SNP G G T TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr10:55587261G>T ENST00000373965.2 - 33 4674 c.4280C>A c.(4279-4281)cCc>cAc p.P1427H PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1420H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1420 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTTAGCCGCGGGTAATGCGGC 0.547 HNSCC(58;0.16) 28 85 --- --- --- --- WDR96 80217 broad.mit.edu 37 10 105900659 105900659 + Missense_Mutation SNP A A G TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr10:105900659A>G ENST00000357060.3 - 34 4487 c.4372T>C c.(4372-4374)Tat>Cat p.Y1458H WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1458 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GCATCAGAATACTCCAGTACT 0.318 12 29 --- --- --- --- ACCS 84680 broad.mit.edu 37 11 44100335 44100335 + Splice_Site SNP G G T TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr11:44100335G>T ENST00000263776.8 + 9 1267 c.e9+1 NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups p.?(2) breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 TTGCCAAGAGGTGAGGCACCC 0.577 11 27 --- --- --- --- KRT78 196374 broad.mit.edu 37 12 53238345 53238345 + Missense_Mutation SNP T T G TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr12:53238345T>G ENST00000359499.4 - 5 600 c.589A>C c.(589-591)Aag>Cag p.K197Q KRT78_ENST00000304620.4_Missense_Mutation_p.K307Q Q8N1N4 K2C78_HUMAN keratin 78 307 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CCCACCACCTTGGTCTGGTAC 0.617 35 111 --- --- --- --- GIT2 9815 broad.mit.edu 37 12 110383093 110383093 + Missense_Mutation SNP G G T TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr12:110383093G>T ENST00000360185.4 - 15 1717 c.1553C>A c.(1552-1554)tCc>tAc p.S518Y GIT2_ENST00000457474.2_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.S568Y|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y NM_014776.3 NP_055591.2 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 568 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 CCTCGACCAGGAAAGTGTGGA 0.547 14 25 --- --- --- --- SEPHS2 22928 broad.mit.edu 37 16 30456028 30456028 + Missense_Mutation SNP T T C TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr16:30456028T>C ENST00000478753.2 - 1 1474 c.1021A>G c.(1021-1023)Att>Gtt p.I341V SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V Q99611 SPS2_HUMAN selenophosphate synthetase 2 341 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 AGATTATGAATAACAAAGGAC 0.473 4 64 --- --- --- --- ITGAL 3683 broad.mit.edu 37 16 30522404 30522404 + Missense_Mutation SNP C C G TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr16:30522404C>G ENST00000356798.6 + 24 2913 c.2733C>G c.(2731-2733)aaC>aaG p.N911K ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K|ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 911 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TGGAGGACAACTCAGCCACTA 0.567 18 163 --- --- --- --- ZNF773 374928 broad.mit.edu 37 19 58017987 58017987 + Missense_Mutation SNP A A G TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr19:58017987A>G ENST00000282292.4 + 4 664 c.524A>G c.(523-525)cAt>cGt p.H175R ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R|ZNF773_ENST00000599847.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) GAGAAGTCACATAGGAGCTCC 0.468 7 16 --- --- --- --- WISP2 8839 broad.mit.edu 37 20 43355879 43355879 + Missense_Mutation SNP G G A TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr20:43355879G>A ENST00000372865.4 + 3 945 c.437G>A c.(436-438)aGc>aAc p.S146N RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000190983.4_Silent_p.Q228Q|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372868.2_Silent_p.Q228Q O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 142 VWFC. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) TGGAGACCCAGCGCCGCCTGT 0.672 16 27 --- --- --- --- ZNF217 7764 broad.mit.edu 37 20 52198352 52198352 + Silent SNP C C T TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr20:52198352C>T ENST00000371471.2 - 2 1439 c.1014G>A c.(1012-1014)aaG>aaA p.K338K ZNF217_ENST00000302342.3_Silent_p.K338K O75362 ZN217_HUMAN zinc finger protein 217 338 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CACAACTGCCCTTATTTGTTT 0.542 14 112 --- --- --- --- BCR 613 broad.mit.edu 37 22 23523995 23523995 + Missense_Mutation SNP A A G TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr22:23523995A>G ENST00000305877.8 + 1 1599 c.848A>G c.(847-849)tAc>tGc p.Y283C BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 283 Binding to ABL SH2-domain.|Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CAGAGCATCTACGTCGGGGGC 0.657 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 8 36 --- --- --- --- FKBP7 51661 broad.mit.edu 37 2 179343217 179343217 + Frame_Shift_Del DEL T T - TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr2:179343217delT ENST00000424785.2 - 1 68 c.10delA c.(10-12)accfs p.T4fs FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR NM_001135212.1|NM_181342.2 NP_001128684.1|NP_851939.1 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 4 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AAATGCATGGTTTTTGGCATC 0.522 7 303 --- --- --- --- KIAA1257 57501 broad.mit.edu 37 3 128696988 128696988 + Frame_Shift_Del DEL T T - TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chr3:128696988delT ENST00000265068.5 - 5 875 c.708delA c.(706-708)gaafs p.E236fs KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|KIAA1257_ENST00000510149.1_5'UTR NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 236 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 CAATGCCCTGTTCAGATAATT 0.358 7 66 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44969453 44969453 + Frame_Shift_Del DEL A A - TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 342033de-29bc-49af-b78f-f05d7e303b22 2c4f634f-c147-49c3-b5d3-77175dc269cb g.chrX:44969453delA ENST00000377967.4 + 28 4176 c.4135delA c.(4135-4137)aaafs p.K1379fs KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs|KDM6A_ENST00000479423.1_3'UTR NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1379 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.Y1378fs(2)|p.M1380fs*9(1) 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 AGAACAGTACAAAATGGAGGA 0.388 """D, N, F, S""" """renal, oesophageal SCC, MM""" 63 22 --- --- --- ---