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 MIIP 60672 broad.mit.edu 37 1 12082418 12082418 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:12082418C>A ENST00000235332.4 + 3 550 c.381C>A c.(379-381)ccC>ccA p.P127P MIIP_ENST00000436478.2_Silent_p.P127P|MIIP_ENST00000466860.1_3'UTR NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 127 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 ACCCAGAGCCCTCAGGGAGGC 0.657 4 72 --- --- --- --- VPS13D 55187 broad.mit.edu 37 1 12422900 12422900 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:12422900G>T ENST00000358136.3 + 51 10396 c.10266G>T c.(10264-10266)agG>agT p.R3422S VPS13D_ENST00000356315.4_Missense_Mutation_p.R3397S NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3421 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AATTTGCCAGGGGACAGGTGA 0.433 9 433 --- --- --- --- PADI3 51702 broad.mit.edu 37 1 17609504 17609504 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:17609504G>T ENST00000375460.3 + 16 1965 c.1925G>T c.(1924-1926)gGg>gTg p.G642V NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 642 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) ATGCTGCATGGGGAGGTGCAC 0.597 4 138 --- --- --- --- CAPZB 832 broad.mit.edu 37 1 19712116 19712116 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:19712116G>T ENST00000264203.3 - 4 669 c.176C>A c.(175-177)cCc>cAc p.P59H CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375144.1_Missense_Mutation_p.P21H|CAPZB_ENST00000264202.6_Missense_Mutation_p.P33H|CAPZB_ENST00000401084.2_Missense_Mutation_p.P33H|CAPZB_ENST00000375142.1_Missense_Mutation_p.P33H|CAPZB_ENST00000433834.1_Missense_Mutation_p.P62H NM_001206541.2 NP_001193470.1 P47756 CAPZB_HUMAN capping protein (actin filament) muscle Z-line, beta 33 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) ACATAGACTGGGGACCTGGCA 0.473 4 87 --- --- --- --- PLA2G2A 5320 broad.mit.edu 37 1 20304968 20304968 + Missense_Mutation SNP C C G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:20304968C>G ENST00000375111.3 - 4 361 c.90G>C c.(88-90)aaG>aaC p.K30N PLA2G2A_ENST00000400520.3_Missense_Mutation_p.K30N|PLA2G2A_ENST00000496748.1_5'UTR NM_000300.3|NM_001161727.1 NP_000291.1|NP_001155199.1 P14555 PA2GA_HUMAN phospholipase A2, group IIA (platelets, synovial fluid) 30 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding p.K30N(1) central_nervous_system(1)|lung(6)|prostate(1)|stomach(1) 9 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTGTCGTCAACTTGATCATTC 0.557 12 61 --- --- --- --- FGR 2268 broad.mit.edu 37 1 27942065 27942065 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:27942065G>T ENST00000374005.3 - 9 1186 c.898C>A c.(898-900)Ccg>Acg p.P300T FGR_ENST00000545953.1_Missense_Mutation_p.P234T|FGR_ENST00000374004.1_Missense_Mutation_p.P300T|FGR_ENST00000399173.1_Missense_Mutation_p.P300T NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 300 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AAGGCCTTCGGGGACATGGTG 0.647 5 95 --- --- --- --- TRIM62 55223 broad.mit.edu 37 1 33612958 33612958 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:33612958C>A ENST00000291416.5 - 5 1481 c.1248G>T c.(1246-1248)gtG>gtT p.V416V TRIM62_ENST00000543586.1_Silent_p.V295V NM_018207.2 NP_060677.2 Q9BVG3 TRI62_HUMAN tripartite motif containing 62 416 B30.2/SPRY. intracellular zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393) GGAAGACACCCACCTTGTCAA 0.572 5 118 --- --- --- --- SPATA6 54558 broad.mit.edu 37 1 48865161 48865161 + Silent SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:48865161T>C ENST00000371847.3 - 7 806 c.642A>G c.(640-642)aaA>aaG p.K214K SPATA6_ENST00000371843.3_Silent_p.K214K|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Silent_p.K142K NM_019073.2 NP_061946.1 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 214 cell differentiation|multicellular organismal development|spermatogenesis extracellular region p.K214K(1) breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 21 GAGAGTGTGATTTTGAAGAAA 0.413 9 505 --- --- --- --- GTF2B 2959 broad.mit.edu 37 1 89325644 89325644 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:89325644C>A ENST00000370500.5 - 5 574 c.456G>T c.(454-456)aaG>aaT p.K152N GTF2B_ENST00000494819.1_5'UTR NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB 152 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) TAGCTCTTCCCTTCAGGCTCT 0.358 6 367 --- --- --- --- ABCA4 24 broad.mit.edu 37 1 94508397 94508397 + Missense_Mutation SNP A A G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:94508397A>G ENST00000370225.3 - 22 3334 c.3248T>C c.(3247-3249)gTg>gCg p.V1083A NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1083 ABC transporter 1. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.V1083A(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTCCAGAATCACCACCTTGGC 0.567 9 144 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103385906 103385906 + Silent SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:103385906G>T ENST00000358392.2 - 49 4076 c.3759C>A c.(3757-3759)ccC>ccA p.P1253P COL11A1_ENST00000512756.1_Silent_p.P1125P|COL11A1_ENST00000370096.3_Silent_p.P1241P|COL11A1_ENST00000353414.4_Silent_p.P1202P NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1241 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CAGACCCTGGGGGTCCTTGTG 0.353 7 405 --- --- --- --- HIPK1 204851 broad.mit.edu 37 1 114510461 114510461 + Silent SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:114510461T>C ENST00000369558.1 + 12 2687 c.2455T>C c.(2455-2457)Ttg>Ctg p.L819L HIPK1_ENST00000406344.1_Silent_p.L425L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000369554.2_Silent_p.L774L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000426820.2_Silent_p.L819L Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 819 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.L819L(3) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCATGTGACATTGGCCACTGC 0.488 7 210 --- --- --- --- THBS3 7059 broad.mit.edu 37 1 155174919 155174919 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:155174919G>T ENST00000368378.3 - 3 495 c.475C>A c.(475-477)Ccc>Acc p.P159T THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 159 TSP N-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGAGGAATGGGGGCCAGTGCT 0.602 4 81 --- --- --- --- FCRL4 83417 broad.mit.edu 37 1 157558993 157558993 + Splice_Site SNP C C G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:157558993C>G ENST00000271532.1 - 3 443 c.e3+1 FCRL4_ENST00000448509.2_Splice_Site NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 integral to membrane|plasma membrane receptor activity p.?(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TTCTTTCTCACCTGAAGAAAA 0.493 18 146 --- --- --- --- NIT1 4817 broad.mit.edu 37 1 161088966 161088966 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:161088966C>A ENST00000368008.1 + 3 200 c.141C>A c.(139-141)ccC>ccA p.P47P NIT1_ENST00000368009.2_Silent_p.P47P|NIT1_ENST00000392190.5_Silent_p.P11P|NIT1_ENST00000368007.4_Silent_p.P32P|NIT1_ENST00000496861.1_3'UTR NM_001185092.1 NP_001172021.1 Q86X76 NIT1_HUMAN nitrilase 1 47 CN hydrolase. nitrogen compound metabolic process mitochondrion nitrilase activity NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1) 12 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GCGAACTGCCCCTGGTGGCTG 0.532 5 185 --- --- --- --- KIF21B 23046 broad.mit.edu 37 1 200978472 200978472 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:200978472C>A ENST00000332129.2 - 2 502 c.186G>T c.(184-186)caG>caT p.Q62H KIF21B_ENST00000422435.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 62 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.Q62H(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TGGAATAGATCTGTTCTTGCC 0.572 11 99 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203693090 203693090 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:203693090G>T ENST00000357681.5 + 19 4229 c.3106G>T c.(3106-3108)Ggg>Tgg p.G1036W ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G1036W|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G1024W|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G1036W NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 1036 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCTCTTCATTGGGATTGGAGA 0.522 4 112 --- --- --- --- NVL 4931 broad.mit.edu 37 1 224495815 224495815 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr1:224495815G>T ENST00000281701.6 - 6 752 c.493C>A c.(493-495)Cct>Act p.P165T NVL_ENST00000391875.2_Missense_Mutation_p.P59T|NVL_ENST00000482491.1_Intron|NVL_ENST00000340871.4_Intron|NVL_ENST00000469075.1_Intron|NVL_ENST00000361463.3_Missense_Mutation_p.P59T NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 165 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) TCTTTGGCAGGGGTCTTCAAG 0.418 6 323 --- --- --- --- DDX1 1653 broad.mit.edu 37 2 15753347 15753347 + Splice_Site SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:15753347G>T ENST00000381341.2 + 15 1345 c.e15-1 DDX1_ENST00000233084.3_Splice_Site Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) ATTTATTTCAGGGAGCTTCTG 0.313 4 101 --- --- --- --- PRKD3 23683 broad.mit.edu 37 2 37543436 37543436 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:37543436G>T ENST00000379066.1 - 2 994 c.232C>A c.(232-234)Cag>Aag p.Q78K PRKD3_ENST00000234179.2_Missense_Mutation_p.Q78K O94806 KPCD3_HUMAN protein kinase D3 78 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) GACAGTTCCTGGGCTTCAATG 0.423 6 321 --- --- --- --- MTA3 57504 broad.mit.edu 37 2 42871298 42871298 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:42871298C>A ENST00000405592.1 + 7 915 c.245C>A c.(244-246)cCc>cAc p.P82H MTA3_ENST00000407270.3_Missense_Mutation_p.P138H|MTA3_ENST00000405094.1_Missense_Mutation_p.P138H|MTA3_ENST00000406911.1_Missense_Mutation_p.P138H|MTA3_ENST00000406652.1_Missense_Mutation_p.P82H NM_001282755.1 NP_001269684.1 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 138 BAH. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1) 15 GTCTATGACCCCTCATTGAAA 0.348 4 116 --- --- --- --- MSH6 2956 broad.mit.edu 37 2 48027255 48027255 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:48027255C>A ENST00000234420.5 + 4 2285 c.2133C>A c.(2131-2133)ccC>ccA p.P711P FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.P581P|MSH6_ENST00000538136.1_Silent_p.P409P NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AATATATTCCCTTGGATTCTG 0.408 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 6 364 --- --- --- --- CCT4 10575 broad.mit.edu 37 2 62104186 62104186 + Splice_Site SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:62104186C>A ENST00000394440.3 - 7 942 c.646G>T c.(646-648)Ggg>Tgg p.G216W CCT4_ENST00000544079.1_Splice_Site_p.G186W|CCT4_ENST00000538252.1_Splice_Site_p.G160W|CCT4_ENST00000544185.1_Splice_Site_p.G66W|AC107081.5_ENST00000425779.1_RNA NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 216 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) TCAATTGTCCCACTAAGGATA 0.393 5 197 --- --- --- --- BOLA3 388962 broad.mit.edu 37 2 74362730 74362730 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:74362730G>T ENST00000327428.5 - 4 433 c.314C>A c.(313-315)cCc>cAc p.P105H BOLA3_ENST00000295326.4_Silent_p.P75P NM_212552.2 NP_997717.2 Q53S33 BOLA3_HUMAN bolA family member 3 105 extracellular region large_intestine(1)|lung(1) 2 TCAGCGTTTGGGGACAGAGGT 0.418 7 256 --- --- --- --- PKP4 8502 broad.mit.edu 37 2 159499082 159499082 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:159499082C>A ENST00000389757.3 + 11 1905 c.1780C>A c.(1780-1782)Ctt>Att p.L594I PKP4_ENST00000389759.3_Missense_Mutation_p.L594I NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 594 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 TTGTGGTGCCCTTCGAAACCT 0.413 HNSCC(62;0.18) 5 222 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099282 168099282 + Silent SNP T T G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:168099282T>G ENST00000409195.1 + 9 1469 c.1380T>G c.(1378-1380)ctT>ctG p.L460L XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L460L NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 285 actin cytoskeleton organization cell junction actin binding p.L460L(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTGACGTACTTCAAACTTCAG 0.448 24 188 --- --- --- --- PPIG 9360 broad.mit.edu 37 2 170493832 170493832 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:170493832C>A ENST00000260970.3 + 14 2284 c.2064C>A c.(2062-2064)ccC>ccA p.P688P PPIG_ENST00000448752.2_Silent_p.P688P|PPIG_ENST00000409714.3_Silent_p.P673P NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 688 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) ATCAAAGTCCCTTCTCAAAAA 0.348 4 146 --- --- --- --- CRYGB 1419 broad.mit.edu 37 2 209007467 209007467 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:209007467C>A ENST00000260988.4 - 3 470 c.423G>T c.(421-423)agG>agT p.R141S NM_005210.3 NP_005201.2 P07316 CRGB_HUMAN crystallin, gamma B 141 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1) 14 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) ACTGCCTCCCCCTGTAGTTGG 0.532 6 312 --- --- --- --- TRIP12 9320 broad.mit.edu 37 2 230657838 230657838 + Missense_Mutation SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:230657838T>C ENST00000283943.5 - 26 3945 c.3767A>G c.(3766-3768)cAg>cGg p.Q1256R TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R NM_001284214.1|NM_004238.1 NP_001271143.1|NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1256 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity p.Q1256R(1) breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TTTTAAAGCCTGTGATCCTCT 0.328 16 119 --- --- --- --- SP110 3431 broad.mit.edu 37 2 231050859 231050859 + Splice_Site SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:231050859C>A ENST00000258381.6 - 11 1207 c.1130G>T c.(1129-1131)gGg>gTg p.G377V SP110_ENST00000392048.3_Splice_Site_p.G375V|SP110_ENST00000358662.4_Splice_Site_p.G377V|SP110_ENST00000258382.5_Splice_Site_p.G377V|SP110_ENST00000338556.3_Splice_Site_p.G79V|SP110_ENST00000540870.1_Splice_Site_p.G383V NM_080424.2 NP_536349 Q9HB58 SP110_HUMAN SP110 nuclear body protein 377 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TGAGGCTGCCCCTGGACCAAA 0.483 4 127 --- --- --- --- NEU4 129807 broad.mit.edu 37 2 242755700 242755700 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:242755700C>A ENST00000391969.2 + 3 730 c.19C>A c.(19-21)Cct>Act p.P7T NEU4_ENST00000325935.6_Missense_Mutation_p.P20T|NEU4_ENST00000404257.1_Missense_Mutation_p.P19T|NEU4_ENST00000405370.1_Missense_Mutation_p.P7T|NEU4_ENST00000407683.1_Missense_Mutation_p.P7T NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 7 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CCCTCGTACCCCTTCACGGAC 0.687 4 64 --- --- --- --- OXSM 54995 broad.mit.edu 37 3 25833004 25833004 + Silent SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:25833004T>C ENST00000280701.3 + 2 592 c.493T>C c.(493-495)Ttg>Ctg p.L165L OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 165 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity p.L165L(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TGAAACTGCTTTGAATTTTCA 0.423 29 268 --- --- --- --- LRRFIP2 9209 broad.mit.edu 37 3 37125219 37125219 + Silent SNP A A G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:37125219A>G ENST00000421307.1 - 20 1608 c.1186T>C c.(1186-1188)Ttg>Ctg p.L396L LRRFIP2_ENST00000336686.4_Silent_p.L396L|LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000421276.2_Silent_p.L164L|LRRFIP2_ENST00000396428.2_Silent_p.L212L|LRRFIP2_ENST00000354379.4_Silent_p.L140L NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 396 Wnt receptor signaling pathway LRR domain binding p.L396L(1)|p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 TGGTAGATCAAATTGTTCTTC 0.353 58 207 --- --- --- --- GRM2 2912 broad.mit.edu 37 3 51750047 51750047 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:51750047C>A ENST00000395052.3 + 4 2492 c.2258C>A c.(2257-2259)cCc>cAc p.P753H GRM2_ENST00000442933.2_Missense_Mutation_p.P475H|GRM2_ENST00000475478.1_3'UTR NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 753 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CGCAAGTGCCCCGAAAACTTC 0.547 4 118 --- --- --- --- CRYBG3 131544 broad.mit.edu 37 3 97652652 97652652 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:97652652C>A ENST00000182096.4 + 15 2576 c.2512C>A c.(2512-2514)Cag>Aag p.Q838K CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.Q45K 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 CTTCTACACCCAGTCTGTGTG 0.453 5 182 --- --- --- --- SLC12A8 84561 broad.mit.edu 37 3 124810946 124810946 + Splice_Site SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:124810946C>A ENST00000423114.2 - 11 1888 c.1889G>T c.(1888-1890)gGg>gTg p.G630V SLC12A8_ENST00000469902.1_Splice_Site_p.G601V|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Splice_Site_p.G402V|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000393469.4_Splice_Site_p.G601V A0AV02 S12A8_HUMAN solute carrier family 12, member 8 601 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 GTTACTCACCCCCAACAGGGA 0.493 5 117 --- --- --- --- IFT80 57560 broad.mit.edu 37 3 160037613 160037613 + Missense_Mutation SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr3:160037613C>T ENST00000326448.7 - 9 1324 c.892G>A c.(892-894)Gtg>Atg p.V298M RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M|IFT80_ENST00000496589.1_Missense_Mutation_p.V161M|IFT80_ENST00000483465.1_Missense_Mutation_p.V161M NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 298 cilium axoneme|microtubule basal body p.V298M(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGTTCCACCACATGTGCAAAA 0.398 8 219 --- --- --- --- SEL1L3 23231 broad.mit.edu 37 4 25849008 25849008 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:25849008G>T ENST00000399878.3 - 2 763 c.641C>A c.(640-642)cCt>cAt p.P214H SEL1L3_ENST00000502949.1_Missense_Mutation_p.P61H|SEL1L3_ENST00000264868.5_Missense_Mutation_p.P179H|SEL1L3_ENST00000513364.1_Intron NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 214 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 ATCTTTGAAAGGGCGTTCAAA 0.463 5 139 --- --- --- --- ARAP2 116984 broad.mit.edu 37 4 36130284 36130284 + Silent SNP T T G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:36130284T>G ENST00000303965.4 - 21 4000 c.3511A>C c.(3511-3513)Aga>Cga p.R1171R NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1171 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding p.R1171R(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTAAAGCTTCTTGCATCCTTT 0.358 11 175 --- --- --- --- MRPL1 65008 broad.mit.edu 37 4 78784032 78784032 + Splice_Site SNP A A C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:78784032A>C ENST00000315567.8 + 1 359 c.30A>C c.(28-30)agA>agC p.R10S NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 10 RNA binding p.R10S(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 GCATGGGTAGAGGTAAGGCGA 0.537 6 169 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114279714 114279714 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:114279714C>A ENST00000357077.4 + 38 9993 c.9940C>A c.(9940-9942)Cca>Aca p.P3314T ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3281T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3281 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CACTTCCACCCCAGCACCTCC 0.428 8 305 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073378 134073378 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:134073378G>T ENST00000264360.5 + 1 2909 c.2083G>T c.(2083-2085)Ggg>Tgg p.G695W NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) cggaggcggaggGTCAGGAGA 0.697 4 79 --- --- --- --- RAPGEF2 9693 broad.mit.edu 37 4 160275188 160275188 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:160275188G>T ENST00000264431.4 + 22 4577 c.4158G>T c.(4156-4158)aaG>aaT p.K1386N NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1386 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GTACTACAAAGGGGCTCATTG 0.423 4 61 --- --- --- --- KLHL2 11275 broad.mit.edu 37 4 166243184 166243184 + Splice_Site SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:166243184G>T ENST00000226725.6 + 15 2013 c.1754G>T c.(1753-1755)gGg>gTg p.G585V KLHL2_ENST00000538127.1_Splice_Site_p.G497V|KLHL2_ENST00000421009.2_Splice_Site_p.G488V|KLHL2_ENST00000514860.1_Splice_Site_p.G589V|KLHL2_ENST00000506761.1_Splice_Site_p.G419V|KLHL2_ENST00000509028.1_3'UTR NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 585 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) CTTTGCTCAGGGGTCACAGTT 0.378 5 301 --- --- --- --- ING2 3622 broad.mit.edu 37 4 184431718 184431718 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:184431718C>A ENST00000302327.3 + 2 658 c.456C>A c.(454-456)ccC>ccA p.P152P ING2_ENST00000434682.2_Silent_p.P112P NM_001564.2 NP_001555.1 Q9H160 ING2_HUMAN inhibitor of growth family, member 2 152 chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex chromatin binding|DNA binding|protein complex binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 7 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CAAGAAGACCCCGCAGGCAGC 0.458 4 94 --- --- --- --- KLKB1 3818 broad.mit.edu 37 4 187175748 187175748 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:187175748C>A ENST00000264690.6 + 12 1507 c.1320C>A c.(1318-1320)ccC>ccA p.P440P KLKB1_ENST00000513864.1_Silent_p.P440P NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 440 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CTAGGCTTCCCCTGCAGGATG 0.373 6 291 --- --- --- --- BRD9 65980 broad.mit.edu 37 5 884166 884166 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:884166C>A ENST00000323510.4 - 5 564 c.565G>T c.(565-567)Ggg>Tgg p.G189W BRD9_ENST00000435709.2_Missense_Mutation_p.G169W|BRD9_ENST00000467963.1_Missense_Mutation_p.G285W|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000483173.1_Missense_Mutation_p.G232W|BRD9_ENST00000388890.4_Missense_Mutation_p.G169W Q9H8M2 BRD9_HUMAN bromodomain containing 9 285 Bromo. nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CAGGCATTCCCTTCAGGCTCA 0.627 4 111 --- --- --- --- FAM105B 90268 broad.mit.edu 37 5 14687628 14687628 + Splice_Site SNP A A T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:14687628A>T ENST00000284274.4 + 5 546 c.e5-1 NM_138348.4 NP_612357.4 Q96BN8 F105B_HUMAN family with sequence similarity 105, member B breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 14 Lung NSC(4;0.00696) TCGATGTTGTAGTTACCAGAA 0.348 5 192 --- --- --- --- EGFLAM 133584 broad.mit.edu 37 5 38412623 38412623 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:38412623G>T ENST00000322350.5 + 11 1713 c.1367G>T c.(1366-1368)gGg>gTg p.G456V EGFLAM_ENST00000336740.6_Missense_Mutation_p.G222V|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G456V NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 456 Laminin G-like 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGTGGAACTGGGGTTGCCATC 0.478 4 124 --- --- --- --- VCAN 1462 broad.mit.edu 37 5 82817528 82817528 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:82817528G>T ENST00000265077.3 + 7 3968 c.3403G>T c.(3403-3405)Ggg>Tgg p.G1135W VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G1087W|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G1135W NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1135 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTTAAGTCCAGGGCCTGAACA 0.408 5 173 --- --- --- --- RHOBTB3 22836 broad.mit.edu 37 5 95067626 95067626 + Silent SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:95067626G>T ENST00000379982.3 + 2 574 c.66G>T c.(64-66)tcG>tcT p.S22S RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.S22S NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 22 Rho-like. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) ACCGGCCGTCGGGGCTTATCC 0.657 3 62 --- --- --- --- APC 324 broad.mit.edu 37 5 112154851 112154851 + Silent SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:112154851G>T ENST00000457016.1 + 10 1502 c.1122G>T c.(1120-1122)cgG>cgT p.R374R APC_ENST00000508376.2_Silent_p.R374R|APC_ENST00000257430.4_Silent_p.R374R P25054 APC_HUMAN adenomatous polyposis coli 374 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GAAATTCCCGGGGCAGTAAAG 0.512 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 4 101 --- --- --- --- HARS 3035 broad.mit.edu 37 5 140056698 140056698 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:140056698C>A ENST00000504366.1 - 8 2439 c.620G>T c.(619-621)gGg>gTg p.G207V HARS_ENST00000438307.2_Missense_Mutation_p.G236V|HARS_ENST00000431330.2_Missense_Mutation_p.G162V|HARS_ENST00000457527.2_Missense_Mutation_p.G256V|HARS_ENST00000504156.1_Missense_Mutation_p.G276V|HARS_ENST00000307633.3_Missense_Mutation_p.G216V|HARS_ENST00000448240.1_Missense_Mutation_p.G81V|HARS_ENST00000415192.2_Missense_Mutation_p.G202V P12081 SYHC_HUMAN histidyl-tRNA synthetase 276 histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) CAGGGATACCCCACCTGGGGA 0.532 7 465 --- --- --- --- ADRB2 154 broad.mit.edu 37 5 148207351 148207351 + Silent SNP T T G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:148207351T>G ENST00000305988.4 + 1 1196 c.957T>G c.(955-957)tcT>tcG p.S319S NM_000024.5 NP_000015 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 319 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity p.S319S(1) endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) ATGTCAATTCTGGTTTCAATC 0.478 15 142 --- --- --- --- AFAP1L1 134265 broad.mit.edu 37 5 148691735 148691735 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:148691735C>A ENST00000296721.4 + 9 1086 c.988C>A c.(988-990)Cca>Aca p.P330T AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P330T NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 330 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCAGATCCCCAGTCCTCCT 0.597 6 259 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154181820 154181820 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:154181820C>A ENST00000336314.4 + 11 1763 c.1739C>A c.(1738-1740)cCa>cAa p.P580Q NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 657 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGCCGGCACCCAGGGGGGGAC 0.547 6 196 --- --- --- --- HAVCR1 26762 broad.mit.edu 37 5 156479438 156479438 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:156479438G>A ENST00000339252.3 - 3 1139 c.607C>T c.(607-609)Cca>Tca p.P203S HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 198 Thr-rich. interspecies interaction between organisms integral to membrane receptor activity p.P203S(1) endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTTGTCACTGGAACACTTGTT 0.468 67 448 --- --- --- --- LCP2 3937 broad.mit.edu 37 5 169677742 169677742 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:169677742C>A ENST00000046794.5 - 20 2086 c.1471G>T c.(1471-1473)Ggg>Tgg p.G491W C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Missense_Mutation_p.G286W NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 491 SH2. immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) ACCTCTTTCCCTCGGAGTCCA 0.413 4 159 --- --- --- --- SH3PXD2B 285590 broad.mit.edu 37 5 171821588 171821588 + Silent SNP T T G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr5:171821588T>G ENST00000311601.5 - 4 458 c.288A>C c.(286-288)atA>atC p.I96I SH3PXD2B_ENST00000519643.1_Silent_p.I96I NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 96 PX. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding p.I96I(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CATCAATTGGTATCAGGCGTT 0.468 9 67 --- --- --- --- TRIM38 10475 broad.mit.edu 37 6 25983518 25983518 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr6:25983518C>A ENST00000357085.3 + 8 1477 c.1001C>A c.(1000-1002)cCc>cAc p.P334H TRIM38_ENST00000349458.3_Missense_Mutation_p.P334H NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 334 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 ACTGCCTTCCCCTGTGTCTTG 0.478 6 200 --- --- --- --- MDC1 9656 broad.mit.edu 37 6 30670419 30670419 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr6:30670419G>T ENST00000376406.3 - 14 6660 c.6013C>A c.(6013-6015)Cct>Act p.P2005T MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 2005 BRCT 2.|Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TGGACTCCAGGGGTCACATAG 0.493 Other conserved DNA damage response genes 6 276 --- --- --- --- MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31727926 31727926 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr6:31727926G>T ENST00000493662.2 + 19 1852 c.1796G>T c.(1795-1797)gGg>gTg p.G599V MSH5_ENST00000375750.3_Missense_Mutation_p.G582V|MSH5_ENST00000375742.3_Missense_Mutation_p.G599V|MSH5_ENST00000375740.3_Missense_Mutation_p.G599V|MSH5_ENST00000395853.1_Missense_Mutation_p.G256V|MSH5_ENST00000375703.3_Missense_Mutation_p.G582V|MSH5_ENST00000431848.2_Missense_Mutation_p.G281V|MSH5_ENST00000534153.4_Missense_Mutation_p.G599V|MSH5_ENST00000375755.3_Missense_Mutation_p.G582V GAATGTGGTGGGGACAAAGGG 0.567 5 259 --- --- --- --- WDR46 9277 broad.mit.edu 37 6 33256001 33256001 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr6:33256001C>A ENST00000374617.4 - 5 841 c.485G>T c.(484-486)gGg>gTg p.G162V WDR46_ENST00000477718.1_5'UTR NM_001164267.1|NM_005452.5 NP_001157739.1|NP_005443.3 O15213 WDR46_HUMAN WD repeat domain 46 162 NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 20 CCCATCCTCCCCTTCCAGAAA 0.488 8 614 --- --- --- --- FNDC1 84624 broad.mit.edu 37 6 159635999 159635999 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr6:159635999C>A ENST00000297267.9 + 5 683 c.483C>A c.(481-483)ccC>ccA p.P161P FNDC1_ENST00000340366.6_Silent_p.P161P NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 161 Fibronectin type-III 2. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCAACAAGCCCTTGCGTGTGC 0.537 4 63 --- --- --- --- SFT2D1 113402 broad.mit.edu 37 6 166733745 166733745 + Splice_Site SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr6:166733745C>A ENST00000361731.3 - 8 550 c.e8-1 SFT2D1_ENST00000487841.1_Splice_Site NM_145169.1 NP_660152.1 Q8WV19 SFT2A_HUMAN SFT2 domain containing 1 protein transport|vesicle-mediated transport integral to membrane NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1) 6 Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199) OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05) AACTGCATCCCTGGTGGAAAA 0.353 4 109 --- --- --- --- CALCR 799 broad.mit.edu 37 7 93065363 93065363 + Silent SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr7:93065363G>T ENST00000359558.2 - 14 1451 c.1152C>A c.(1150-1152)ccC>ccA p.P384P CALCR_ENST00000360249.4_Silent_p.P366P|CALCR_ENST00000421592.1_Silent_p.P366P|CALCR_ENST00000426151.1_Silent_p.P350P|CALCR_ENST00000394441.1_Silent_p.P350P NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 366 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TTCCCAGCAGGGGCACAAGGA 0.498 4 103 --- --- --- --- MOSPD3 64598 broad.mit.edu 37 7 100210593 100210593 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr7:100210593C>A ENST00000393950.2 + 1 461 c.179C>A c.(178-180)cCc>cAc p.P60H MOSPD3_ENST00000424091.2_Missense_Mutation_p.P60H|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P60H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P60H NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 60 MSP. integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CTCTATAACCCCACAGGAACT 0.647 6 262 --- --- --- --- C7orf60 154743 broad.mit.edu 37 7 112555390 112555390 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr7:112555390C>A ENST00000297145.4 - 2 438 c.273G>T c.(271-273)gaG>gaT p.E91D C7orf60_ENST00000485446.1_5'UTR NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 91 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 GACCTTCGCCCTCACAAGTTT 0.348 5 232 --- --- --- --- LRGUK 136332 broad.mit.edu 37 7 133859312 133859312 + Missense_Mutation SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr7:133859312C>T ENST00000285928.2 + 8 1013 c.944C>T c.(943-945)gCt>gTt p.A315V NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 315 ATP binding|kinase activity p.A315V(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GAACAGATTGCTGAGCTGAGA 0.313 6 185 --- --- --- --- RCL1 10171 broad.mit.edu 37 9 4841318 4841318 + Missense_Mutation SNP A A G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:4841318A>G ENST00000381750.4 + 6 894 c.671A>G c.(670-672)tAt>tGt p.Y224C RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C|RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C|RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 224 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) CCTGATATCTATATTTACACA 0.438 4 287 --- --- --- --- KDM4C 23081 broad.mit.edu 37 9 7103863 7103863 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:7103863C>A ENST00000381309.3 + 18 3168 c.2603C>A c.(2602-2604)cCc>cAc p.P868H KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000428870.2_Missense_Mutation_p.P555H|KDM4C_ENST00000442236.2_Missense_Mutation_p.P613H|KDM4C_ENST00000381306.3_Missense_Mutation_p.P868H NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 868 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 AAGGTCAACCCCAACGTGGTA 0.483 4 121 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8460552 8460552 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:8460552G>T ENST00000381196.4 - 30 4277 c.3734C>A c.(3733-3735)cCt>cAt p.P1245H PTPRD_ENST00000397606.3_Missense_Mutation_p.P824H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P831H|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1245H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1245H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P834H|PTPRD_ENST00000397617.3_Missense_Mutation_p.P824H|PTPRD_ENST00000397611.3_Missense_Mutation_p.P831H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P834H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1223H|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1232H NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1245 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GTCGGAGTAAGGGCTGGTTGC 0.433 TSP Lung(15;0.13) 4 143 --- --- --- --- NDUFB6 4712 broad.mit.edu 37 9 32573053 32573053 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:32573053C>A ENST00000379847.3 - 1 107 c.6G>T c.(4-6)acG>acT p.T2T NDUFB6_ENST00000350021.2_Silent_p.T2T NM_002493.4 NP_002484.1 O95139 NDUB6_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa 2 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 8 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00199) NADH(DB00157) GAGTGTACCCCGTCATGTCGC 0.627 OREG0019131 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 40 --- --- --- --- GBA2 57704 broad.mit.edu 37 9 35748483 35748483 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:35748483C>A ENST00000378094.4 - 1 732 c.219G>T c.(217-219)gaG>gaT p.E73D GBA2_ENST00000378103.3_Missense_Mutation_p.E73D|GBA2_ENST00000545786.1_Missense_Mutation_p.E73D Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 73 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TAGCTTTACCCTCATAGGAAA 0.532 6 385 --- --- --- --- SPATA31E1 286234 broad.mit.edu 37 9 90501022 90501022 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:90501022C>A ENST00000325643.5 + 4 1686 c.1620C>A c.(1618-1620)ccC>ccA p.P540P NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CTTCTCCACCCCAGATTAGGG 0.607 6 260 --- --- --- --- OR2K2 26248 broad.mit.edu 37 9 114089857 114089857 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:114089857G>T ENST00000374428.1 - 1 943 c.944C>A c.(943-945)cCc>cAc p.P315H OR2K2_ENST00000302681.1_Missense_Mutation_p.P286H Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 GTAAATTATGGGGTTCAACAT 0.388 5 224 --- --- --- --- ADAMTS13 11093 broad.mit.edu 37 9 136313725 136313725 + Missense_Mutation SNP A A C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:136313725A>C ENST00000371929.3 + 22 3181 c.2737A>C c.(2737-2739)Atg>Ctg p.M913L ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 913 TSP type-1 5. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding p.M913L(2) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CGCAGGTCTGATGGAGCTGCG 0.632 8 345 --- --- --- --- UAP1L1 91373 broad.mit.edu 37 9 139975242 139975242 + Missense_Mutation SNP T T A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:139975242T>A ENST00000409858.3 + 7 1312 c.1280T>A c.(1279-1281)cTg>cAg p.L427Q UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q NM_207309.2 NP_997192.2 Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 427 nucleotidyltransferase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) CGCCAGGCCCTGCTCACCCAG 0.677 4 92 --- --- --- --- FAM208B 54906 broad.mit.edu 37 10 5772512 5772512 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr10:5772512C>A ENST00000328090.5 + 11 1175 c.550C>A c.(550-552)Ctt>Att p.L184I RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 184 TTTATCTACCCTTAATTGTGC 0.353 6 204 --- --- --- --- FAM208B 54906 broad.mit.edu 37 10 5782210 5782210 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr10:5782210G>T ENST00000328090.5 + 13 2702 c.2077G>T c.(2077-2079)Ggg>Tgg p.G693W RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 693 AACCCCAGTGGGGAAAGTCAT 0.537 6 280 --- --- --- --- SGPL1 8879 broad.mit.edu 37 10 72629558 72629558 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr10:72629558C>A ENST00000373202.3 + 9 914 c.714C>A c.(712-714)ccC>ccA p.P238P NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 238 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) GTGTGGCTCCCCAAAGTGCCC 0.448 4 132 --- --- --- --- FAM196A 642938 broad.mit.edu 37 10 128973760 128973760 + Silent SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr10:128973760G>T ENST00000522781.1 - 4 1455 c.900C>A c.(898-900)ccC>ccA p.P300P DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P300P NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 300 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CAGTTTCCGAGGGCGCCTGGA 0.667 4 135 --- --- --- --- RAG1 5896 broad.mit.edu 37 11 36596905 36596905 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr11:36596905C>A ENST00000299440.5 + 2 2163 c.2051C>A c.(2050-2052)gCc>gAc p.A684D NM_000448.2 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 684 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GAGAGGGAGGCCATGAAGAGC 0.512 Familial Hemophagocytic Lymphohistiocytosis 4 85 --- --- --- --- MAP6 4135 broad.mit.edu 37 11 75298701 75298701 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr11:75298701C>A ENST00000304771.3 - 4 2595 c.1845G>T c.(1843-1845)aaG>aaT p.K615N MAP6_ENST00000526740.1_Missense_Mutation_p.K286N|CTD-2530H12.4_ENST00000527803.1_RNA NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 615 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) GACCTTCACCCTTGACAGGTG 0.542 7 377 --- --- --- --- NPAT 4863 broad.mit.edu 37 11 108047756 108047756 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr11:108047756G>T ENST00000278612.8 - 11 1073 c.968C>A c.(967-969)cCa>cAa p.P323Q NPAT_ENST00000610253.1_5'UTR NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 323 Mediates transcriptional activation. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) CTGAAATGCTGGGTCTGATTC 0.388 4 154 --- --- --- --- GRIK4 2900 broad.mit.edu 37 11 120833172 120833172 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr11:120833172G>A ENST00000527524.2 + 18 2335 c.2048G>A c.(2047-2049)cGc>cAc p.R683H GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 683 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.R683H(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CAGAATTCCCGCTACCAGACC 0.483 5 42 --- --- --- --- HSPA8 3312 broad.mit.edu 37 11 122929117 122929117 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr11:122929117C>A ENST00000534624.1 - 8 1874 c.1598G>T c.(1597-1599)aGg>aTg p.R533M HSPA8_ENST00000526110.1_Missense_Mutation_p.R514M|HSPA8_ENST00000532636.1_Missense_Mutation_p.R533M|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.R533M|HSPA8_ENST00000533540.1_Missense_Mutation_p.R387M|HSPA8_ENST00000534319.1_Missense_Mutation_p.R297M NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 533 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CACCTTGTCCCTCTGCTTCTC 0.423 5 323 --- --- --- --- B3GAT1 27087 broad.mit.edu 37 11 134253748 134253748 + Silent SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr11:134253748G>T ENST00000524765.1 - 3 4991 c.447C>A c.(445-447)ccC>ccA p.P149P B3GAT1_ENST00000312527.4_Silent_p.P149P|B3GAT1_ENST00000392580.1_Silent_p.P149P|B3GAT1_ENST00000537389.1_Silent_p.P162P Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 149 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) TGTAGTTGCGGGGCGTCTCCA 0.731 3 16 --- --- --- --- MYL6 4637 broad.mit.edu 37 12 56554423 56554423 + Missense_Mutation SNP T T A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr12:56554423T>A ENST00000550697.1 + 6 682 c.441T>A c.(439-441)caT>caA p.H147Q MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q NM_021019.4 NP_066299.2 P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 147 EF-hand 3. axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle p.H147Q(1) large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) TTGTGAGGCATATCCTGTCGG 0.547 14 351 --- --- --- --- MYL6 4637 broad.mit.edu 37 12 56554425 56554425 + Missense_Mutation SNP T T G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr12:56554425T>G ENST00000550697.1 + 6 684 c.443T>G c.(442-444)aTc>aGc p.I148S MYL6_ENST00000548400.1_Missense_Mutation_p.I112S|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S NM_021019.4 NP_066299.2 P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 148 EF-hand 3. axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle p.I148S(1) large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) GTGAGGCATATCCTGTCGGGG 0.547 14 342 --- --- --- --- DPY19L2 283417 broad.mit.edu 37 12 63976243 63976243 + Silent SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr12:63976243T>C ENST00000324472.4 - 18 1851 c.1668A>G c.(1666-1668)ctA>ctG p.L556L DPY19L2_ENST00000413230.2_Silent_p.L3L NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 556 multicellular organismal development|spermatid development integral to membrane p.L556L(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AAAACATCTTTAGCCTCATAA 0.343 23 82 --- --- --- --- UBC 7316 broad.mit.edu 37 12 125397269 125397269 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr12:125397269G>A ENST00000536769.1 - 1 2625 c.1049C>T c.(1048-1050)gCc>gTc p.A350V UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000538617.1_Intron P0CG48 UBC_HUMAN ubiquitin C 350 Ubiquitin-like 5. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTGTTTTCCGGCAAAGATCAA 0.522 7 475 --- --- --- --- MIPEP 4285 broad.mit.edu 37 13 24455845 24455845 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr13:24455845C>A ENST00000382172.3 - 3 543 c.445G>T c.(445-447)Gta>Tta p.V149L MIPEP_ENST00000469167.1_5'UTR NM_005932.3 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase 149 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity p.V149L(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) TACTTCTCTACCATGGTGCCA 0.502 11 115 --- --- --- --- SPG20 23111 broad.mit.edu 37 13 36886567 36886567 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr13:36886567G>A ENST00000451493.1 - 7 1748 c.1531C>T c.(1531-1533)Cca>Tca p.P511S SPG20_ENST00000355182.4_Missense_Mutation_p.P511S|SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 511 cell death cytoplasm ubiquitin protein ligase binding p.P511S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TTGACATGTGGAGCTAGTTCT 0.368 42 283 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518237 108518237 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr13:108518237C>A ENST00000375915.2 - 1 846 c.708G>T c.(706-708)tcG>tcT p.S236S NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 236 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TGGACAACCCCGAGAACAACT 0.537 5 240 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20846388 20846388 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr14:20846388C>A ENST00000262715.5 - 39 5556 c.5516G>T c.(5515-5517)gGg>gTg p.G1839V TEP1_ENST00000556935.1_Missense_Mutation_p.G1731V|TEP1_ENST00000545983.1_Missense_Mutation_p.G177V NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1839 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TCCGGGTGCCCCCAGGTCCTA 0.592 5 95 --- --- --- --- L3HYPDH 112849 broad.mit.edu 37 14 59942588 59942588 + Splice_Site SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr14:59942588C>A ENST00000247194.4 - 4 1051 c.938G>T c.(937-939)aGg>aTg p.R313M L3HYPDH_ENST00000487285.1_Splice_Site_p.R142M NM_144581.1 NP_653182.1 L-3-hydroxyproline dehydratase (trans-) GCCACTTACCCTCACAGCTTT 0.453 5 274 --- --- --- --- FUT8 2530 broad.mit.edu 37 14 66208945 66208945 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr14:66208945C>A ENST00000360689.5 + 11 3272 c.1545C>A c.(1543-1545)ccC>ccA p.P515P FUT8_ENST00000394585.1_Silent_p.P515P|FUT8_ENST00000394586.2_Silent_p.P515P|FUT8_ENST00000358307.2_Silent_p.P386P|FUT8_ENST00000417683.1_Silent_p.P109P|FUT8_ENST00000557164.1_Silent_p.P352P NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 515 SH3. in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) CTCACCAACCCCGAACTGCAG 0.438 6 271 --- --- --- --- CDC42BPB 9578 broad.mit.edu 37 14 103442220 103442220 + Splice_Site SNP C C G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr14:103442220C>G ENST00000361246.2 - 10 1675 c.1387G>C c.(1387-1389)Gag>Cag p.E463Q NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 463 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.E463Q(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CTGCCCTCACCTTGCAGCTTC 0.662 13 154 --- --- --- --- SLC12A6 9990 broad.mit.edu 37 15 34531251 34531251 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr15:34531251C>A ENST00000354181.3 - 20 3039 c.2547G>T c.(2545-2547)ggG>ggT p.G849G SLC12A6_ENST00000397702.2_Silent_p.G790G|SLC12A6_ENST00000397707.2_Silent_p.G834G|SLC12A6_ENST00000290209.5_Silent_p.G798G|SLC12A6_ENST00000558589.1_Silent_p.G840G|SLC12A6_ENST00000560164.1_Silent_p.G661G|SLC12A6_ENST00000458406.2_Silent_p.G790G|SLC12A6_ENST00000558667.1_Silent_p.G849G|SLC12A6_ENST00000560611.1_Silent_p.G849G|SLC12A6_ENST00000451844.2_Silent_p.G661G Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 849 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GCTTCATGCCCCCAAGGCCAC 0.542 9 465 --- --- --- --- CHP1 11261 broad.mit.edu 37 15 41523608 41523608 + Missense_Mutation SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr15:41523608C>T ENST00000334660.5 + 1 268 c.28C>T c.(28-30)Cgg>Tgg p.R10W CHP1_ENST00000560397.1_Missense_Mutation_p.R10W|CHP1_ENST00000558351.1_Intron NM_007236.4 NP_009167.1 Q99653 CHP1_HUMAN calcineurin-like EF-hand protein 1 10 potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity p.R10W(1) CACGTTACTGCGGGACGAAGA 0.677 3 7 --- --- --- --- CGNL1 84952 broad.mit.edu 37 15 57730877 57730877 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr15:57730877C>A ENST00000281282.5 + 2 758 c.680C>A c.(679-681)cCc>cAc p.P227H NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 227 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) ATAGAGGACCCCAAAAAGCAG 0.557 5 297 --- --- --- --- TICRR 90381 broad.mit.edu 37 15 90129088 90129088 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr15:90129088C>A ENST00000268138.7 + 4 1431 c.1326C>A c.(1324-1326)ccC>ccA p.P442P TICRR_ENST00000560985.1_Silent_p.P441P|RP11-429B14.1_ENST00000559041.1_RNA TOPBP1-interacting checkpoint and replication regulator CTGACAGCCCCCGGGACACAG 0.493 6 232 --- --- --- --- ZNF778 197320 broad.mit.edu 37 16 89294346 89294346 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr16:89294346G>T ENST00000433976.2 + 6 1898 c.1566G>T c.(1564-1566)gaG>gaT p.E522D ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D|RP11-46C24.6_ENST00000563182.1_RNA NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E522D(1) endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) TACTGAATGAGCATGTGAAAA 0.458 7 108 --- --- --- --- ZNF276 92822 broad.mit.edu 37 16 89789105 89789105 + Silent SNP T T A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr16:89789105T>A ENST00000289816.5 + 2 459 c.147T>A c.(145-147)gcT>gcA p.A49A ZNF276_ENST00000568064.1_Silent_p.A49A|ZNF276_ENST00000443381.2_Silent_p.A124A|ZNF276_ENST00000446326.2_5'UTR NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) TTGGTGTGGCTGTCCGCCAGG 0.637 4 106 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7754485 7754485 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr17:7754485C>A ENST00000254846.5 + 14 4209 c.3820C>A c.(3820-3822)Cac>Aac p.H1274N KDM6B_ENST00000448097.2_Missense_Mutation_p.H1274N NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1274 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTCCCGTTCCCACACCACCAT 0.602 4 112 --- --- --- --- COX10 1352 broad.mit.edu 37 17 14110351 14110351 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr17:14110351G>T ENST00000261643.3 + 7 1230 c.1153G>T c.(1153-1155)Gcc>Tcc p.A385S COX10_ENST00000537334.1_Missense_Mutation_p.A168S|COX10_ENST00000536205.1_Missense_Mutation_p.A193S NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 385 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) CCCCATCATGGCCCTTCCCAT 0.647 5 194 --- --- --- --- CPD 1362 broad.mit.edu 37 17 28770867 28770867 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr17:28770867G>T ENST00000225719.4 + 11 2497 c.2421G>T c.(2419-2421)agG>agT p.R807S CPD_ENST00000543464.2_Missense_Mutation_p.R560S NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 807 Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 CAGATGGCAGGGGTATATTAA 0.403 7 460 --- --- --- --- TBC1D29 26083 broad.mit.edu 37 17 28886736 28886736 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr17:28886736G>T ENST00000580161.1 + 2 2501 c.4G>T c.(4-6)Ggg>Tgg p.G2W TBC1D29_ENST00000579181.1_Missense_Mutation_p.G2W|TBC1D29_ENST00000584297.1_Missense_Mutation_p.G2W Q9UFV1 TBC29_HUMAN TBC1 domain family, member 29 2 Rab-GAP TBC; truncated. intracellular Rab GTPase activator activity breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Myeloproliferative disorder(56;0.0255) CAAGACCATGGGGCATCTGGT 0.627 5 258 --- --- --- --- KRT14 3861 broad.mit.edu 37 17 39741238 39741238 + Missense_Mutation SNP G G C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr17:39741238G>C ENST00000167586.6 - 2 683 c.597C>G c.(595-597)gaC>gaG p.D199E NM_000526.4 NP_000517 P02533 K1C14_HUMAN keratin 14 199 Coil 1B.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton p.D199E(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) TGGTGCGGAAGTCATCCGCGG 0.502 4 96 --- --- --- --- ROCK1 6093 broad.mit.edu 37 18 18586746 18586746 + Missense_Mutation SNP T T A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr18:18586746T>A ENST00000399799.2 - 15 2492 c.1552A>T c.(1552-1554)Aca>Tca p.T518S NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity p.T518S(1) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TCCTTTAATGTAGAAACTAGA 0.308 6 280 --- --- --- --- ZNF516 9658 broad.mit.edu 37 18 74091047 74091047 + Missense_Mutation SNP T T A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr18:74091047T>A ENST00000443185.2 - 4 3340 c.3023A>T c.(3022-3024)cAg>cTg p.Q1008L ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 1008 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q1008L(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCTCAGCTCCTGGGCTGCCTT 0.706 25 29 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10291243 10291243 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr19:10291243C>A ENST00000340748.4 - 4 463 c.228G>T c.(226-228)gaG>gaT p.E76D DNMT1_ENST00000540357.1_Missense_Mutation_p.E76D|DNMT1_ENST00000359526.4_Missense_Mutation_p.E76D P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 76 Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCAGGTAGCCCTCCTACAGCA 0.408 5 198 --- --- --- --- SIN3B 23309 broad.mit.edu 37 19 16952650 16952650 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr19:16952650C>A ENST00000379803.1 + 4 467 c.453C>A c.(451-453)ccC>ccA p.P151P SIN3B_ENST00000248054.5_Silent_p.P151P|SIN3B_ENST00000596802.1_Silent_p.P151P NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 151 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding p.P151P(1) endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 AGGACAAACCCCAGGTGCCCC 0.517 4 149 --- --- --- --- ZBTB32 27033 broad.mit.edu 37 19 36207474 36207474 + Nonsense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr19:36207474C>A ENST00000392197.2 + 7 1602 c.1284C>A c.(1282-1284)taC>taA p.Y428* ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.Y428* Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 428 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCGCTCCGTACCGCTGCTCCC 0.682 OREG0025433 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 118 --- --- --- --- APLP1 333 broad.mit.edu 37 19 36360602 36360602 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr19:36360602G>T ENST00000221891.4 + 2 373 c.181G>T c.(181-183)Ggg>Tgg p.G61W APLP1_ENST00000537454.2_Missense_Mutation_p.G22W|APLP1_ENST00000586861.1_Missense_Mutation_p.G55W NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 61 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGGACTATGCGGGCGCCTAAC 0.687 3 34 --- --- --- --- LRFN3 79414 broad.mit.edu 37 19 36431059 36431059 + Silent SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr19:36431059G>A ENST00000588831.1 + 3 1786 c.732G>A c.(730-732)ctG>ctA p.L244L LRFN3_ENST00000246529.3_Silent_p.L244L Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 244 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCCTGGTGCTGGCCTTTGGCG 0.721 3 42 --- --- --- --- TMEM145 284339 broad.mit.edu 37 19 42819344 42819344 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr19:42819344C>A ENST00000598766.1 + 7 582 c.582C>A c.(580-582)atC>atA p.I194I TMEM145_ENST00000301204.3_Silent_p.I170I Q8NBT3 TM145_HUMAN transmembrane protein 145 170 integral to membrane p.I170I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) CGGCAGGGATCCTGGAGACAG 0.532 5 129 --- --- --- --- PRKD2 25865 broad.mit.edu 37 19 47195016 47195016 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr19:47195016C>A ENST00000433867.1 - 13 2155 c.1678G>T c.(1678-1680)Ggg>Tgg p.G560W PRKD2_ENST00000595515.1_Missense_Mutation_p.G560W|PRKD2_ENST00000600194.1_Missense_Mutation_p.G403W|PRKD2_ENST00000601806.1_Missense_Mutation_p.G403W|PRKD2_ENST00000291281.4_Missense_Mutation_p.G560W NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349|NP_001073350|NP_057541 Q9BZL6 KPCD2_HUMAN protein kinase D2 560 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CCAAACTGCCCTGAGCCCAGC 0.582 4 133 --- --- --- --- SHANK1 50944 broad.mit.edu 37 19 51191309 51191309 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr19:51191309C>A ENST00000293441.1 - 17 2197 c.2179G>T c.(2179-2181)Ggg>Tgg p.G727W SHANK1_ENST00000359082.3_Missense_Mutation_p.G718W|SHANK1_ENST00000391814.1_Missense_Mutation_p.G727W|SHANK1_ENST00000391813.1_Missense_Mutation_p.G114W NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 727 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) ACATTCTGCCCGTTCACCTGT 0.617 4 157 --- --- --- --- ZFP28 140612 broad.mit.edu 37 19 57059269 57059269 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr19:57059269C>A ENST00000301318.3 + 4 592 c.521C>A c.(520-522)cCa>cAa p.P174Q ZFP28_ENST00000591844.1_Missense_Mutation_p.P174Q|AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 174 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GCCTGGTGCCCAGGTGAGTGT 0.512 4 119 --- --- --- --- ZSCAN22 342945 broad.mit.edu 37 19 58850175 58850175 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr19:58850175G>T ENST00000329665.4 + 3 1106 c.959G>T c.(958-960)gGg>gTg p.G320V NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 320 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GTCCACACAGGGGCGAAGCCC 0.567 5 244 --- --- --- --- CHD6 84181 broad.mit.edu 37 20 40044151 40044151 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr20:40044151G>T ENST00000373233.3 - 34 6791 c.6614C>A c.(6613-6615)cCt>cAt p.P2205H NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2205 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GAGGATGATAGGGGTGTGCCC 0.597 4 68 --- --- --- --- IGLV2-23 28813 broad.mit.edu 37 22 23040734 23040734 + RNA SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr22:23040734C>A ENST00000390306.2 + 0 344 CAACAGCACCCAGGCAAAGCC 0.552 8 444 --- --- --- --- DEPDC5 9681 broad.mit.edu 37 22 32229973 32229973 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr22:32229973G>A ENST00000536766.1 + 22 2030 c.1859G>A c.(1858-1860)aGg>aAg p.R620K DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000400248.2_Intron O75140 DEPD5_HUMAN DEP domain containing 5 0 intracellular signal transduction p.?(1) breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CCAAGTAAGAGGGGGCAGCTG 0.502 23 452 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36701115 36701115 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr22:36701115C>A ENST00000216181.5 - 18 2423 c.2193G>T c.(2191-2193)aaG>aaT p.K731N NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 731 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCATGAAACCCTTGGGAATGG 0.547 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 4 146 --- --- --- --- MFNG 4242 broad.mit.edu 37 22 37875495 37875495 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr22:37875495C>A ENST00000356998.3 - 4 672 c.449G>T c.(448-450)aGg>aTg p.R150M MFNG_ENST00000416983.3_Missense_Mutation_p.R136M NM_002405.3 NP_002396.2 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 150 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) CAGCAGCGCCCTTGGGTTCAC 0.617 4 80 --- --- --- --- XRCC6 2547 broad.mit.edu 37 22 42052956 42052956 + Silent SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr22:42052956C>A ENST00000359308.4 + 9 1996 c.1341C>A c.(1339-1341)ccC>ccA p.P447P XRCC6_ENST00000402580.3_Silent_p.P406P|XRCC6_ENST00000405506.1_Silent_p.P397P|XRCC6_ENST00000405878.1_Silent_p.P447P|XRCC6_ENST00000360079.3_Silent_p.P447P|XRCC6_ENST00000428575.2_Silent_p.P314P P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 447 Ku. DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 GGAAGATGCCCTTTACTGAAA 0.423 Non-homologous end-joining 4 148 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610895 42610895 + Silent SNP A A G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr22:42610895A>G ENST00000359486.3 - 1 553 c.417T>C c.(415-417)ttT>ttC p.F139F TCF20_ENST00000335626.4_Silent_p.F139F NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding p.F139F(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCTGTGCTTGAAACTGGCCCA 0.577 56 162 --- --- --- --- BCOR 54880 broad.mit.edu 37 X 39914706 39914706 + Silent SNP A A G TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chrX:39914706A>G ENST00000342274.4 - 12 4916 c.4554T>C c.(4552-4554)taT>taC p.Y1518Y BCOR_ENST00000378444.4_Silent_p.Y1552Y|BCOR_ENST00000378463.1_Silent_p.Y395Y|BCOR_ENST00000397354.3_Silent_p.Y1518Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1552 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.Y1518Y(2) breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GGTCAGCACCATAAGAGAGAA 0.453 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 8 83 --- --- --- --- PCDH19 57526 broad.mit.edu 37 X 99662671 99662671 + Missense_Mutation SNP C C A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chrX:99662671C>A ENST00000373034.4 - 1 2600 c.925G>T c.(925-927)Ggg>Tgg p.G309W PCDH19_ENST00000255531.7_Missense_Mutation_p.G309W|PCDH19_ENST00000420881.2_Missense_Mutation_p.G309W NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 309 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TACACGTGCCCCTCTTCGTAG 0.587 4 62 --- --- --- --- IGSF1 3547 broad.mit.edu 37 X 130407832 130407832 + Missense_Mutation SNP G G T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chrX:130407832G>T ENST00000370904.1 - 26 4832 c.3922C>A c.(3922-3924)Cct>Act p.P1308T IGSF1_ENST00000370903.3_Missense_Mutation_p.P1322T|IGSF1_ENST00000361420.3_Missense_Mutation_p.P1317T|IGSF1_ENST00000370910.1_Missense_Mutation_p.P1308T Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1317 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GAATTGGCAGGGGTGCCTGGT 0.463 5 189 --- --- --- --- MT-ND4 4538 broad.mit.edu 37 M 10869 10869 + Missense_Mutation SNP T T C TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chrM:10869T>C ENST00000361381.2 + 1 110 c.110T>C c.(109-111)aTc>aCc p.I37T mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 TATTAGCATCATCCCCCTACT 0.398 2 3 --- --- --- --- CCNYL1 151195 broad.mit.edu 37 2 208618360 208618362 + In_Frame_Del DEL AGA AGA - TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr2:208618360_208618362delAGA ENST00000295414.3 + 10 1229_1231 c.1018_1020delAGA c.(1018-1020)agadel p.R341del CCNYL1_ENST00000468768.1_3'UTR|CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del Q8N7R7 CCYL1_HUMAN cyclin Y-like 1 341 regulation of cyclin-dependent protein kinase activity protein kinase binding endometrium(1)|large_intestine(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14) AGCCGCTATGAGAAGGTCTTTCA 0.404 72 356 --- --- --- --- UBA6 55236 broad.mit.edu 37 4 68529609 68529610 + Frame_Shift_Ins INS - - T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr4:68529609_68529610insT ENST00000322244.5 - 11 1012_1013 c.953_954insA c.(952-954)aacfs p.N318fs UBA6_ENST00000420827.2_Frame_Shift_Ins_p.N318fs NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 TTACCTCAGGGTTGCTAAAATC 0.386 8 279 --- --- --- --- SURF4 6836 broad.mit.edu 37 9 136231748 136231748 + Frame_Shift_Del DEL T T - TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chr9:136231748delT ENST00000371989.3 - 5 640 c.511delA c.(511-513)accfs p.T171fs SURF4_ENST00000545297.1_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs|SURF4_ENST00000485435.2_Intron NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2 NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1 O15260 SURF4_HUMAN surfeit 4 171 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding kidney(1)|large_intestine(2)|lung(5) 8 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) TGAAGGAGGGTCATGAACATC 0.562 12 69 --- --- --- --- SLITRK4 139065 broad.mit.edu 37 X 142717743 142717743 + Frame_Shift_Del DEL T T - TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 399a4aa1-42a8-47cc-85b8-eb319f9d6dea af2ce051-08ef-4359-a67b-359a82b9e6a9 g.chrX:142717743delT ENST00000381779.4 - 2 1407 c.1182delA c.(1180-1182)gtafs p.V394fs SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 394 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TGAAGTCTGATACGTCCACAT 0.393 110 164 --- --- --- ---