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 TCEB3 6924 broad.mit.edu 37 1 24083516 24083516 + Nonsense_Mutation SNP G G T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr1:24083516G>T ENST00000418390.2 + 10 2507 c.2236G>T c.(2236-2238)Gag>Tag p.E746* TCEB3_ENST00000609199.1_Nonsense_Mutation_p.E720* NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 746 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CCCCAGCCCTGAGGAGCCGGC 0.577 11 205 --- --- --- --- KIF26B 55083 broad.mit.edu 37 1 245849237 245849237 + Silent SNP C C A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr1:245849237C>A ENST00000366518.4 + 9 1913 c.1809C>A c.(1807-1809)tcC>tcA p.S603S KIF26B_ENST00000407071.2_Silent_p.S984S Q2KJY2 KI26B_HUMAN kinesin family member 26B 984 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.S984S(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) ATAATGGGTCCGAAGGTCAGC 0.622 4 25 --- --- --- --- CTNNA2 1496 broad.mit.edu 37 2 80874842 80874842 + Missense_Mutation SNP G G C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:80874842G>C ENST00000466387.1 + 22 3287 c.2563G>C c.(2563-2565)Gtt>Ctt p.V855L CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 903 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CAACTCACCTGTTGTGTCTTG 0.473 6 277 --- --- --- --- CTNNA2 1496 broad.mit.edu 37 2 80874843 80874843 + Missense_Mutation SNP T T A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:80874843T>A ENST00000466387.1 + 22 3288 c.2564T>A c.(2563-2565)gTt>gAt p.V855D CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855D P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 903 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AACTCACCTGTTGTGTCTTGG 0.473 6 276 --- --- --- --- LCT 3938 broad.mit.edu 37 2 136567431 136567431 + Missense_Mutation SNP C C A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:136567431C>A ENST00000264162.2 - 8 2496 c.2486G>T c.(2485-2487)aGg>aTg p.R829M NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 829 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CCTGGGAGTCCTTGACTTGCT 0.493 5 302 --- --- --- --- SCN7A 6332 broad.mit.edu 37 2 167262940 167262940 + Missense_Mutation SNP T T C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:167262940T>C ENST00000409855.1 - 25 4325 c.4199A>G c.(4198-4200)tAt>tGt p.Y1400C NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1400 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.Y1400C(3) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 GGCAAAATTATACATTCCAAA 0.353 22 151 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179406214 179406214 + Missense_Mutation SNP T T A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:179406214T>A ENST00000589042.1 - 350 97814 c.97590A>T c.(97588-97590)caA>caT p.Q32530H TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q29962H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q30889H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q23657H|TTN_ENST00000460472.2_Missense_Mutation_p.Q23465H|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q23590H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30889 Ig-like 143. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.Q23465H(2)|p.Q23657H(1)|p.Q29960H(1)|p.Q29962H(1)|p.Q23590H(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCCAGTCACTTGGGAGCCAC 0.498 11 30 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179604912 179604912 + Missense_Mutation SNP C C G TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:179604912C>G ENST00000589042.1 - 48 13272 c.13048G>C c.(13048-13050)Gtg>Ctg p.V4350L TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4033L|TTN_ENST00000342175.6_Missense_Mutation_p.V4179L|TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4033 Ig-like 23. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V4112L(1)|p.V3987L(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGGGCATCACCACGTTGTCA 0.458 16 137 --- --- --- --- HDAC11 79885 broad.mit.edu 37 3 13542247 13542247 + Missense_Mutation SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr3:13542247C>T ENST00000433119.1 + 5 795 c.320C>T c.(319-321)gCg>gTg p.A107V HDAC11_ENST00000437379.2_Silent_p.G121G|HDAC11_ENST00000495099.2_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000295757.3_Silent_p.G149G|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000522202.1_Silent_p.G98G|HDAC11_ENST00000402259.1_Intron Q96DB2 HDA11_HUMAN histone deacetylase 11 0 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding p.G149G(2) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 GCGACCGTGGCGGGGGCTTCT 0.647 OREG0015412 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 7 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38135139 38135139 + Silent SNP T T C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr3:38135139T>C ENST00000308059.6 + 12 1821 c.1800T>C c.(1798-1800)ggT>ggC p.G600G DLEC1_ENST00000346219.3_Silent_p.G600G|DLEC1_ENST00000452631.2_Silent_p.G600G Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 600 negative regulation of cell proliferation cytoplasm p.G600G(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ATATTTCTGGTGAAAAAAGCC 0.493 28 93 --- --- --- --- PSMD6 9861 broad.mit.edu 37 3 63996409 63996409 + Missense_Mutation SNP T T G TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr3:63996409T>G ENST00000492933.1 - 9 1316 c.1264A>C c.(1264-1266)Act>Cct p.T422P PSMD6_ENST00000394431.2_Missense_Mutation_p.T331P|PSMD6_ENST00000482510.1_Missense_Mutation_p.T330P|PSMD6_ENST00000295901.4_Missense_Mutation_p.T369P|PSMD6-AS2_ENST00000472046.1_RNA NM_001271779.1 NP_001258708.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 369 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex ATPase activity|protein binding p.T369P(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) TTCTTGATAGTTTCTTGGTAC 0.318 12 84 --- --- --- --- EPHB1 2047 broad.mit.edu 37 3 134911533 134911533 + Silent SNP G G C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr3:134911533G>C ENST00000398015.3 + 11 2368 c.1998G>C c.(1996-1998)ctG>ctC p.L666L EPHB1_ENST00000493838.1_Silent_p.L227L NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 666 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GGGACTTTCTGAGTGAGGCGA 0.547 4 49 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146058804 146058804 + Missense_Mutation SNP C C A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr4:146058804C>A ENST00000454497.2 - 21 3065 c.2928G>T c.(2926-2928)caG>caT p.Q976H OTUD4_ENST00000447906.2_Missense_Mutation_p.Q1041H|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 1040 protein binding p.Q976H(1)|p.Q975H(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GATTATAGAACTGCTTGGATC 0.413 47 384 --- --- --- --- BDP1 55814 broad.mit.edu 37 5 70751835 70751835 + Missense_Mutation SNP C C A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr5:70751835C>A ENST00000358731.4 + 1 394 c.131C>A c.(130-132)gCt>gAt p.A44D BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 44 Interaction with ZBTB43. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) ACGGACTCTGCTTCCAAGCCC 0.642 5 48 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152558076 152558076 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr6:152558076G>A ENST00000367255.5 - 109 20676 c.20075C>T c.(20074-20076)tCc>tTc p.S6692F SYNE1_ENST00000341594.5_Missense_Mutation_p.S6304F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1216F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6692F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6621F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6692 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.S6692F(3) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCCAGATGGGACCACGTCTA 0.522 HNSCC(10;0.0054) 6 70 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100348486 100348486 + RNA SNP C C A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr7:100348486C>A ENST00000542585.1 + 0 1636 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.V496V(3) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACACCTCCGTCACCGTCCCCT 0.642 7 41 --- --- --- --- ZFPM2 23414 broad.mit.edu 37 8 106814510 106814510 + Missense_Mutation SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr8:106814510C>T ENST00000407775.2 + 8 2450 c.2200C>T c.(2200-2202)Cgc>Tgc p.R734C RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R465C|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000509144.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 734 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GAGAACCATGCGCACACGCAA 0.507 4 63 --- --- --- --- CENPP 401541 broad.mit.edu 37 9 95108042 95108042 + Missense_Mutation SNP G G T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr9:95108042G>T ENST00000375587.3 + 4 955 c.440G>T c.(439-441)tGc>tTc p.C147F NM_001012267.1 NP_001012267.1 Q6IPU0 CENPP_HUMAN centromere protein P 147 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm p.C147F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1) 16 CCCACAGAATGCTCAGAATTA 0.289 16 56 --- --- --- --- MUS81 80198 broad.mit.edu 37 11 65630579 65630579 + Missense_Mutation SNP G G T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr11:65630579G>T ENST00000308110.4 + 7 998 c.649G>T c.(649-651)Gcc>Tcc p.A217S MUS81_ENST00000533035.1_Missense_Mutation_p.A142S NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 217 Interaction with BLM. DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) CCAGAAGTTGGCCGAGTCAGA 0.612 Homologous recombination 4 116 --- --- --- --- TSPAN9 10867 broad.mit.edu 37 12 3390977 3390977 + Silent SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr12:3390977C>T ENST00000011898.5 + 8 803 c.642C>T c.(640-642)atC>atT p.I214I TSPAN9_ENST00000407263.1_Silent_p.I214I|TSPAN9_ENST00000537971.1_Silent_p.I214I NM_006675.4 NP_006666.1 O75954 TSN9_HUMAN tetraspanin 9 214 integral to plasma membrane|membrane fraction p.I214I(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) GCATCCTCATCATGCAGGTAA 0.587 16 24 --- --- --- --- TRAV18 28665 broad.mit.edu 37 14 22471681 22471681 + RNA SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr14:22471681G>A ENST00000390446.3 + 0 209 CTCCCTGAGAGGGCAGCTCTG 0.453 9 134 --- --- --- --- SIX1 6495 broad.mit.edu 37 14 61115426 61115426 + Missense_Mutation SNP G G C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr14:61115426G>C ENST00000247182.6 - 1 754 c.482C>G c.(481-483)aCc>aGc p.T161S SIX1_ENST00000554986.1_Intron NM_005982.3 NP_005973.1 Q15475 SIX1_HUMAN SIX homeobox 1 161 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0201) GGTGAGGCCGGTGGCCTCGGC 0.647 6 78 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64580250 64580250 + Silent SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr14:64580250C>T ENST00000357395.3 + 67 13100 c.1956C>T c.(1954-1956)gaC>gaT p.D652D ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.D901D|SYNE2_ENST00000358025.3_Silent_p.D4267D|SYNE2_ENST00000394768.2_Silent_p.D652D|SYNE2_ENST00000344113.4_Silent_p.D4267D|SYNE2_ENST00000554584.1_Silent_p.D4282D Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4267 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 p.D4267D(1) 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) TAAACGCAGACATGCAGCAGG 0.557 11 19 --- --- --- --- CHSY1 22856 broad.mit.edu 37 15 101718218 101718218 + Missense_Mutation SNP G G T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr15:101718218G>T ENST00000254190.3 - 3 2259 c.1784C>A c.(1783-1785)cCt>cAt p.P595H CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 595 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTCGGCTTTAGGGTACTTAAT 0.458 4 104 --- --- --- --- MPP2 4355 broad.mit.edu 37 17 41956753 41956753 + Missense_Mutation SNP T T C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr17:41956753T>C ENST00000269095.4 - 12 1676 c.1372A>G c.(1372-1374)Acg>Gcg p.T458A MPP2_ENST00000461854.1_Missense_Mutation_p.T482A|MPP2_ENST00000377184.3_Missense_Mutation_p.T475A|MPP2_ENST00000536246.1_Missense_Mutation_p.T447A|MPP2_ENST00000518766.1_Missense_Mutation_p.T503A|MPP2_ENST00000520305.1_Missense_Mutation_p.T319A|MPP2_ENST00000523501.1_Missense_Mutation_p.T447A NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 482 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) AACTCGGCCGTTCGTAGCACC 0.572 7 123 --- --- --- --- ANKRD12 23253 broad.mit.edu 37 18 9221994 9221994 + Missense_Mutation SNP A A G TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr18:9221994A>G ENST00000262126.4 + 8 1180 c.940A>G c.(940-942)Aca>Gca p.T314A ANKRD12_ENST00000383440.2_Missense_Mutation_p.T291A|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Missense_Mutation_p.T291A NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus p.T314A(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TGAAAGTTACACAGGTTTGTT 0.348 10 113 --- --- --- --- MOCOS 55034 broad.mit.edu 37 18 33836994 33836994 + Missense_Mutation SNP A A T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr18:33836994A>T ENST00000261326.5 + 12 2249 c.2228A>T c.(2227-2229)aAc>aTc p.N743I MOCOS_ENST00000588132.1_3'UTR NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 743 MOSC. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding p.N743I(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) CTGCTGATCAACACATCCAGT 0.453 57 179 --- --- --- --- SPTBN4 57731 broad.mit.edu 37 19 41062020 41062020 + Silent SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr19:41062020G>A ENST00000352632.3 + 25 5201 c.5115G>A c.(5113-5115)gtG>gtA p.V1705V SPTBN4_ENST00000392023.1_Silent_p.V381V|SPTBN4_ENST00000338932.3_Silent_p.V1705V|SPTBN4_ENST00000595535.1_Silent_p.V1705V|SPTBN4_ENST00000598249.1_Silent_p.V1705V|SPTBN4_ENST00000392025.1_Silent_p.V448V Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1705 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton p.V1705V(1) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGTCTCAGGTGGACCGCCTGT 0.662 6 53 --- --- --- --- DOPEY2 9980 broad.mit.edu 37 21 37586800 37586800 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr21:37586800G>A ENST00000399151.3 + 9 1160 c.1075G>A c.(1075-1077)Gca>Aca p.A359T NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 359 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane p.A359T(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ACGCCATCATGCATACCTGAA 0.393 9 70 --- --- --- --- WNK3 65267 broad.mit.edu 37 X 54359994 54359994 + Missense_Mutation SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chrX:54359994C>T ENST00000354646.2 - 2 551 c.113G>A c.(112-114)aGa>aAa p.R38K WNK3_ENST00000375169.3_Missense_Mutation_p.R38K|WNK3_ENST00000375159.2_Missense_Mutation_p.R38K NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 38 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity p.R38K(2) autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 CTCCTTTAGTCTAGCTTCTAC 0.428 8 125 --- --- --- --- FRMD7 90167 broad.mit.edu 37 X 131219961 131219961 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chrX:131219961G>A ENST00000298542.4 - 6 659 c.484C>T c.(484-486)Cat>Tat p.H162Y FRMD7_ENST00000464296.1_Missense_Mutation_p.H147Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.H42Y NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 162 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding p.H162Y(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TGCTTCTGATGAAAGTGCATG 0.443 73 88 --- --- --- --- F8 2157 broad.mit.edu 37 X 154225299 154225299 + Missense_Mutation SNP G G T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chrX:154225299G>T ENST00000360256.4 - 3 537 c.337C>A c.(337-339)Cat>Aat p.H113N NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 113 F5/8 type A 1.|Plastocyanin-like 1. H -> R (in HEMA; mild).|H -> Y (in HEMA). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTGACAGGATGGGAAGCCATG 0.443 5 178 --- --- --- --- HEXB 3074 broad.mit.edu 37 5 74016258 74016259 + In_Frame_Ins INS - - AGA TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr5:74016258_74016259insAGA ENST00000511181.1 + 12 1660_1661 c.748_749insAGA c.(748-750)cag>cAGAag p.251_252insK HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000261416.7_In_Frame_Ins_p.476_477insK|HEXB_ENST00000513539.1_3'UTR P07686 HEXB_HUMAN hexosaminidase B (beta polypeptide) 476 cell death lysosome cation binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.72e-57) TTTAGGTACTCAGAAACAGAAA 0.361 20 74 --- --- --- ---