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 GJB5 2709 broad.mit.edu 37 1 35223743 35223743 + Missense_Mutation SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:35223743C>T ENST00000338513.1 + 2 985 c.812C>T c.(811-813)aCc>aTc p.T271I NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 271 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) GTGAAGAAAACCATCTTGTGA 0.567 19 21 --- --- --- --- THRAP3 9967 broad.mit.edu 37 1 36769470 36769470 + Missense_Mutation SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:36769470G>A ENST00000354618.5 + 12 2944 c.2720G>A c.(2719-2721)gGt>gAt p.G907D THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 907 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTTCCTCGGGGTCGGGGCCGG 0.597 T USP6 aneurysmal bone cysts 12 74 --- --- --- --- TARS2 80222 broad.mit.edu 37 1 150471026 150471026 + Silent SNP A A G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:150471026A>G ENST00000369064.3 + 11 1321 c.1287A>G c.(1285-1287)cgA>cgG p.R429R TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000369054.2_Silent_p.R299R|TARS2_ENST00000606933.1_Silent_p.R347R NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 429 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TGCCCCTGCGACTAGCTGACT 0.647 5 84 --- --- --- --- PLEKHA6 22874 broad.mit.edu 37 1 204228776 204228776 + Missense_Mutation SNP T T C TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:204228776T>C ENST00000272203.3 - 8 933 c.617A>G c.(616-618)aAg>aGg p.K206R PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 206 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CCCTCGAGTCTTGGCCTCTGG 0.612 42 43 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237947227 237947227 + Missense_Mutation SNP C C A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr1:237947227C>A ENST00000366574.2 + 90 12532 c.12215C>A c.(12214-12216)aCg>aAg p.T4072K RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K|RYR2_ENST00000360064.6_Missense_Mutation_p.T4078K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4072 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTGCGGAGACGGATGAGAAT 0.512 5 12 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179438180 179438180 + Missense_Mutation SNP T T G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr2:179438180T>G ENST00000589042.1 - 326 72903 c.72679A>C c.(72679-72681)Aaa>Caa p.K24227Q TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K22586Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22586 Ig-like 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) TCAGGGTTTTTGGGCGGATCA 0.448 3 114 --- --- --- --- HHIP 64399 broad.mit.edu 37 4 145567943 145567943 + Missense_Mutation SNP G G A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr4:145567943G>A ENST00000296575.3 + 1 771 c.116G>A c.(115-117)tGc>tAc p.C39Y HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 39 Arg-rich. cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding p.C39Y(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) AGGAGAAGGTGCCTGAATGGG 0.577 4 59 --- --- --- --- PRDM9 56979 broad.mit.edu 37 5 23527460 23527460 + Missense_Mutation SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr5:23527460C>T ENST00000296682.3 + 11 2445 c.2263C>T c.(2263-2265)Cgg>Tgg p.R755W NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 755 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGAGTGTGGGCGGGGCTTTCG 0.582 HNSCC(3;0.000094) 10 154 --- --- --- --- C7 730 broad.mit.edu 37 5 40958242 40958242 + Silent SNP T T C TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr5:40958242T>C ENST00000313164.9 + 11 1727 c.1368T>C c.(1366-1368)caT>caC p.H456H NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 456 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) ACCCCTGTCATTGCCGGCCTT 0.473 4 76 --- --- --- --- MLXIP 22877 broad.mit.edu 37 12 122613718 122613718 + Missense_Mutation SNP G G T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr12:122613718G>T ENST00000319080.7 + 4 773 c.641G>T c.(640-642)cGc>cTc p.R214L Q9HAP2 MLXIP_HUMAN MLX interacting protein Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) TGGAAGAGCCGCATCGAGATT 0.547 3 21 --- --- --- --- IFT43 112752 broad.mit.edu 37 14 76543017 76543017 + Missense_Mutation SNP C C A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr14:76543017C>A ENST00000238628.6 + 4 298 c.293C>A c.(292-294)gCt>gAt p.A98D IFT43_ENST00000314067.6_Intron NM_052873.2 NP_443105.2 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 97 cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 TTGGGGCTGGCTTCATTGGAA 0.463 3 46 --- --- --- --- OTUD7A 161725 broad.mit.edu 37 15 31776773 31776773 + Missense_Mutation SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr15:31776773C>T ENST00000382902.1 - 11 1618 c.1526G>A c.(1525-1527)cGc>cAc p.R509H OTUD7A_ENST00000307050.4_Missense_Mutation_p.R502H Q8TE49 OTU7A_HUMAN OTU domain containing 7A 502 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) cttctccttgcgctgcttctc 0.587 5 13 --- --- --- --- EARS2 124454 broad.mit.edu 37 16 23555840 23555840 + Silent SNP C C G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr16:23555840C>G ENST00000449606.1 - 3 511 c.480G>C c.(478-480)acG>acC p.T160T EARS2_ENST00000563459.1_Silent_p.T160T|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000563232.1_Silent_p.T160T NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 160 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding p.T160T(1) central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) CTTACCGGGGCGTCTGGTGGT 0.542 5 22 --- --- --- --- CDH8 1006 broad.mit.edu 37 16 62055221 62055221 + Missense_Mutation SNP C C A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr16:62055221C>A ENST00000577390.1 - 2 1041 c.87G>T c.(85-87)atG>atT p.M29I CDH8_ENST00000584337.1_Missense_Mutation_p.M29I|CDH8_ENST00000577730.1_Missense_Mutation_p.M29I|CDH8_ENST00000299345.6_Missense_Mutation_p.M29I NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 29 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TCATCGGAGCCATGTAAATGC 0.448 7 62 --- --- --- --- KRT25 147183 broad.mit.edu 37 17 38906790 38906790 + Silent SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr17:38906790C>T ENST00000312150.4 - 6 1077 c.1017G>A c.(1015-1017)gcG>gcA p.A339A NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 339 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity p.A339A(2) endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) CCTGGATCTGCGCCAGCTGCG 0.562 10 219 --- --- --- --- KRT33A 3883 broad.mit.edu 37 17 39502452 39502452 + Silent SNP A A G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr17:39502452A>G ENST00000007735.3 - 7 1178 c.1134T>C c.(1132-1134)tgT>tgC p.C378C NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 378 Tail. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) TGGACTTGTCACATGCATTGG 0.522 31 48 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56246187 56246187 + Silent SNP C C T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr18:56246187C>T ENST00000361673.3 - 4 2034 c.1821G>A c.(1819-1821)caG>caA p.Q607Q ALPK2_ENST00000587399.1_5'UTR NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 607 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTTGCTCTGCCTGGGTTGAAA 0.458 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 16 --- --- --- --- NLRP12 91662 broad.mit.edu 37 19 54308673 54308673 + Missense_Mutation SNP A A G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr19:54308673A>G ENST00000324134.6 - 5 2443 c.2275T>C c.(2275-2277)Tgc>Cgc p.C759R NLRP12_ENST00000351894.4_Missense_Mutation_p.C759R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 759 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGGTCCTCGCAGGCTGAGCTG 0.498 3 103 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16348168 16348168 + Missense_Mutation SNP C C A TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr20:16348168C>A ENST00000408042.1 - 23 3959 c.3802G>T c.(3802-3804)Gtc>Ttc p.V1268F KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron NM_001199866.1 NP_001186795.1 Q96L93 KI16B_HUMAN kinesin family member 16B 0 PX. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TTCAGAAGGACTAGCGACTGG 0.483 22 36 --- --- --- --- C20orf85 128602 broad.mit.edu 37 20 56726068 56726068 + Silent SNP T T G TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chr20:56726068T>G ENST00000371168.3 + 1 109 c.48T>G c.(46-48)ctT>ctG p.L16L NM_178456.2 NP_848551.1 Q9H1P6 CT085_HUMAN chromosome 20 open reading frame 85 16 kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) GCATGAACCTTGTGGGTCAGG 0.637 7 5 --- --- --- --- P2RY10 27334 broad.mit.edu 37 X 78216116 78216116 + Missense_Mutation SNP A A T TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ec36148-fac7-4583-b63e-6e055faa5d8c f7dc706c-fd50-4f2b-8b98-db4e3e844012 g.chrX:78216116A>T ENST00000171757.2 + 4 379 c.99A>T c.(97-99)caA>caT p.Q33H P2RY10_ENST00000544091.1_Missense_Mutation_p.Q33H|P2RY10_ENST00000475374.1_3'UTR NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 33 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 TGAAATTTCAATACTCCCTCT 0.428 8 61 --- --- --- ---