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 PHACTR4 65979 broad.mit.edu 37 1 28764899 28764899 + Nonsense_Mutation SNP G G T TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr1:28764899G>T ENST00000373836.3 + 1 218 c.4G>T c.(4-6)Gga>Tga p.G2* PHACTR4_ENST00000493669.1_Intron|PHACTR4_ENST00000373839.3_Intron NM_023923.3 NP_076412.3 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 0 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TATAATCATGGGACAAGCTGA 0.413 8 27 --- --- --- --- BTBD8 284697 broad.mit.edu 37 1 92595245 92595245 + Splice_Site SNP G G A TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr1:92595245G>A ENST00000370382.3 + 5 931 c.664G>A c.(664-666)Gcc>Acc p.A222T BTBD8_ENST00000342818.3_Splice_Site_p.A222T|BTBD8_ENST00000540648.1_Splice_Site_p.A222T Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 222 BTB 2. nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) TCCCTTTAGGGCCATTTTGAG 0.358 3 30 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324525 152324525 + Missense_Mutation SNP A A C TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr1:152324525A>C ENST00000388718.5 - 3 5809 c.5737T>G c.(5737-5739)Tcc>Gcc p.S1913A FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1913 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAACTGTGGATTCTGACTCT 0.512 4 249 --- --- --- --- CHMP3 51652 broad.mit.edu 37 2 86790451 86790451 + Silent SNP G G C TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr2:86790451G>C ENST00000263856.4 - 1 149 c.21C>G c.(19-21)acC>acG p.T7T CHMP3_ENST00000439940.2_Intron|CHMP3_ENST00000409727.1_Silent_p.T7T|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409225.2_5'UTR|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron NM_001193517.1|NM_016079.3 NP_001180446.1|NP_057163.1 charged multivesicular body protein 3 GCTTCTCCTGGGTCTTTCCAA 0.622 5 128 --- --- --- --- SLC6A6 6533 broad.mit.edu 37 3 14489110 14489110 + Missense_Mutation SNP G G A TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr3:14489110G>A ENST00000454876.2 + 5 714 c.385G>A c.(385-387)Gta>Ata p.V129I SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.V129I|SLC6A6_ENST00000416216.2_Missense_Mutation_p.V129I P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 129 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 TGCCTCCGTTGTAATTGTGTC 0.547 11 431 --- --- --- --- UGT2B4 7363 broad.mit.edu 37 4 70361505 70361505 + Silent SNP C C T TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr4:70361505C>T ENST00000305107.6 - 1 121 c.75G>A c.(73-75)aaG>aaA p.K25K UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Silent_p.K25K NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 25 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ACACCAGCACCTTTCCACAAC 0.453 7 231 --- --- --- --- HAPLN1 1404 broad.mit.edu 37 5 82948496 82948496 + Missense_Mutation SNP T T A TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr5:82948496T>A ENST00000274341.4 - 3 1098 c.248A>T c.(247-249)aAg>aTg p.K83M HAPLN1_ENST00000514416.1_Missense_Mutation_p.K83M NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 83 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CGAAGTTAGCTTGGTCCACTT 0.423 4 95 --- --- --- --- FCN1 2219 broad.mit.edu 37 9 137802991 137802991 + Missense_Mutation SNP C C T rs149439264 byFrequency TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr9:137802991C>T ENST00000371806.3 - 8 812 c.721G>A c.(721-723)Ggg>Agg p.G241R NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 241 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding p.G241R(2) endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GCACTGCCCCCGACAAAGGCT 0.582 42 136 --- --- --- --- GBF1 8729 broad.mit.edu 37 10 104140091 104140091 + Missense_Mutation SNP A A G TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr10:104140091A>G ENST00000369983.3 + 37 5221 c.4961A>G c.(4960-4962)tAc>tGc p.Y1654C NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1654 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) ATGGACAAGTACATGCACGCA 0.577 20 63 --- --- --- --- C10orf137 26098 broad.mit.edu 37 10 127429204 127429204 + Missense_Mutation SNP A A C TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr10:127429204A>C ENST00000337623.3 + 15 2157 c.2052A>C c.(2050-2052)ttA>ttC p.L684F C10orf137_ENST00000356792.4_Missense_Mutation_p.L718F NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) ACATTAAATTAGCTTTGCAAA 0.393 30 93 --- --- --- --- ACAD10 80724 broad.mit.edu 37 12 112186219 112186219 + Missense_Mutation SNP G G T TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr12:112186219G>T ENST00000455480.2 + 18 2854 c.2677G>T c.(2677-2679)Gat>Tat p.D893Y ACAD10_ENST00000392636.2_Missense_Mutation_p.D464Y|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.D862Y NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 862 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GGTTCCCATGGATACCCCAGG 0.562 17 51 --- --- --- --- AKAP6 9472 broad.mit.edu 37 14 33292870 33292870 + Missense_Mutation SNP G G A TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr14:33292870G>A ENST00000280979.4 + 13 6021 c.5851G>A c.(5851-5853)Gaa>Aaa p.E1951K AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1951 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TGCTGGCAAGGAATTTGTTTC 0.378 15 73 --- --- --- --- PAPLN 89932 broad.mit.edu 37 14 73719406 73719406 + Silent SNP C C T TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr14:73719406C>T ENST00000427855.1 + 11 1119 c.1017C>T c.(1015-1017)ccC>ccT p.P339P PAPLN_ENST00000554301.1_Silent_p.P339P|PAPLN_ENST00000381166.3_Silent_p.P339P|PAPLN_ENST00000340738.5_Silent_p.P312P|PAPLN_ENST00000555445.1_Silent_p.P339P O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 339 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) AGGCCTACCCCGACCACATGT 0.647 12 50 --- --- --- --- IGDCC3 9543 broad.mit.edu 37 15 65627682 65627682 + Missense_Mutation SNP G G A TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr15:65627682G>A ENST00000327987.4 - 4 883 c.632C>T c.(631-633)gCc>gTc p.A211V NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 211 Ig-like C2-type 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GATGTTTGAGGCCACACAGTG 0.597 8 49 --- --- --- --- STRA6 64220 broad.mit.edu 37 15 74472523 74472523 + Silent SNP G G A TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr15:74472523G>A ENST00000323940.5 - 19 2147 c.1902C>T c.(1900-1902)cgC>cgT p.R634R STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Silent_p.R649R|STRA6_ENST00000423167.2_Silent_p.R625R|STRA6_ENST00000563965.1_Silent_p.R673R|STRA6_ENST00000395105.4_Silent_p.R634R|STRA6_ENST00000535552.1_Silent_p.R671R|STRA6_ENST00000416286.3_Silent_p.R626R|STRA6_ENST00000449139.2_Silent_p.R634R NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 634 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 GAGCCCTGCCGCGGCTGGCCC 0.632 24 100 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr17:47696432A>C ENST00000393331.3 - 7 861 c.391T>G c.(391-393)Tgg>Ggg p.W131G SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.W131G(2)|p.W131R(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTGAATCCCCAGTCTTTGCCT 0.458 Prostate(2;0.17) 10 136 --- --- --- --- NFKBIB 4793 broad.mit.edu 37 19 39395664 39395664 + Missense_Mutation SNP C C G TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr19:39395664C>G ENST00000572515.1 + 2 270 c.189C>G c.(187-189)caC>caG p.H63Q NFKBIB_ENST00000392079.3_Intron|NFKBIB_ENST00000313582.5_Missense_Mutation_p.H63Q Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 63 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GGGCACTGCACTTGGCTGTGA 0.532 4 212 --- --- --- --- SUN2 25777 broad.mit.edu 37 22 39141779 39141779 + Silent SNP G G A TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr22:39141779G>A ENST00000405510.1 - 9 1081 c.723C>T c.(721-723)ttC>ttT p.F241F SUN2_ENST00000216064.4_Silent_p.F241F|SUN2_ENST00000405018.1_Silent_p.F262F|SUN2_ENST00000406622.1_Silent_p.F241F|SUN2_ENST00000411587.2_Silent_p.F230F|RP3-508I15.14_ENST00000416406.1_RNA NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 241 centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 AAGCAGGGTGGAATGTCTGCA 0.612 4 11 --- --- --- --- PCDH11X 27328 broad.mit.edu 37 X 91090586 91090586 + Missense_Mutation SNP A A T TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chrX:91090586A>T ENST00000373094.1 + 1 928 c.83A>T c.(82-84)tAc>tTc p.Y28F PCDH11X_ENST00000298274.8_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Y28F NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 28 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GAGAAAAACTACACCATCCGA 0.488 15 21 --- --- --- --- MAGEA6 4105 broad.mit.edu 37 X 151869898 151869898 + Missense_Mutation SNP G G T TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chrX:151869898G>T ENST00000329342.5 + 3 813 c.588G>T c.(586-588)atG>atT p.M196I NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 196 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) ATCAGATCATGCCCAAGACAG 0.557 43 46 --- --- --- --- PKHD1 5314 broad.mit.edu 37 6 51882246 51882251 + In_Frame_Del DEL TGCCCA TGCCCA - TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr6:51882246_51882251delTGCCCA ENST00000371117.3 - 34 5832_5837 c.5557_5562delTGGGCA c.(5557-5562)tgggcadel p.WA1853del PKHD1_ENST00000340994.4_In_Frame_Del_p.WA1853del NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1853 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.W1853L(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACATTGACTCTGCCCAATGATCTGGC 0.490 15 70 --- --- --- --- EXT1 2131 broad.mit.edu 37 8 118831983 118831983 + Frame_Shift_Del DEL G G - TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr8:118831983delG ENST00000378204.2 - 6 2274 c.1468delC c.(1468-1470)ctgfs p.L490fs NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 490 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TGAGAGACCAGGGGGGTCACC 0.547 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 13 84 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26714879 26714879 + Frame_Shift_Del DEL T T - TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8130ce33-1338-4bc9-b812-7060168d762a 4c90ef8d-c640-4c67-bafa-12fb155781aa g.chr12:26714879delT ENST00000381340.3 - 35 5053 c.4637delA c.(4636-4638)aatfs p.N1546fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1546 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AATTCCACGATTTTTTGCTGA 0.318 7 26 --- --- --- ---