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 NOC2L 26155 broad.mit.edu 37 1 892349 892349 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:892349G>T ENST00000327044.6 - 4 460 c.411C>A c.(409-411)ccC>ccA p.P137P NOC2L_ENST00000487214.1_5'UTR NM_015658.3 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 137 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TCAGCCCTCTGGGGACTCTGT 0.582 7 164 --- --- --- --- TMEM201 199953 broad.mit.edu 37 1 9662326 9662326 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:9662326C>A ENST00000340305.5 + 6 1165 c.1156C>A c.(1156-1158)Cga>Aga p.R386R TMEM201_ENST00000340381.6_Silent_p.R386R|TMEM201_ENST00000377376.4_Silent_p.R386R NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 386 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) GTTCCGGCCCCGAAGGTCAGA 0.642 4 20 --- --- --- --- HSPG2 3339 broad.mit.edu 37 1 22157724 22157724 + Missense_Mutation SNP C C A rs144525987 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:22157724C>A ENST00000374695.3 - 84 11625 c.11546G>T c.(11545-11547)cGg>cTg p.R3849L NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3849 EGF-like 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGCCGGTCCCGACAGGTGGG 0.682 5 125 --- --- --- --- MYOM3 127294 broad.mit.edu 37 1 24388587 24388587 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:24388587C>A ENST00000330966.7 - 33 3954 c.3792G>T c.(3790-3792)ctG>ctT p.L1264L MYOM3_ENST00000338909.5_Silent_p.L154L|MYOM3_ENST00000374434.3_Silent_p.L1261L|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1261 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CACCACTCTCCAGACGTTTGT 0.517 6 172 --- --- --- --- AHDC1 27245 broad.mit.edu 37 1 27878163 27878163 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:27878163G>T ENST00000374011.2 - 6 1432 c.464C>A c.(463-465)cCg>cAg p.P155Q AHDC1_ENST00000247087.5_Missense_Mutation_p.P155Q NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 155 Pro-rich. DNA binding p.P155Q(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CGGTGCAGGCGGGCGGCTCAG 0.637 5 162 --- --- --- --- THEMIS2 9473 broad.mit.edu 37 1 28203119 28203119 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:28203119G>T ENST00000373921.3 + 2 119 c.115G>T c.(115-117)Ggg>Tgg p.G39W THEMIS2_ENST00000328928.7_Missense_Mutation_p.G39W|THEMIS2_ENST00000373927.3_Missense_Mutation_p.G39W|THEMIS2_ENST00000373925.1_Missense_Mutation_p.G39W NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 TGAGATCTCTGGGAATGAGTG 0.597 8 135 --- --- --- --- DNAJC8 22826 broad.mit.edu 37 1 28530322 28530322 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:28530322C>A ENST00000263697.4 - 8 601 c.575G>T c.(574-576)aGg>aTg p.R192M DNAJC8_ENST00000489277.1_5'UTR NM_014280.2 NP_055095.2 O75937 DNJC8_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 8 192 nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) CTCTTCTTCCCTTTGTCGTTT 0.413 5 87 --- --- --- --- FABP3 2170 broad.mit.edu 37 1 31842339 31842339 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:31842339C>A ENST00000373713.2 - 2 200 c.139G>T c.(139-141)Ggg>Tgg p.G47W FABP3_ENST00000497275.1_5'UTR NM_004102.3 NP_004093.1 P05413 FABPH_HUMAN fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) 47 negative regulation of cell proliferation large_intestine(1)|lung(2)|ovary(2) 5 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149) AGAATGTCCCCATTCTTTTCG 0.488 6 175 --- --- --- --- AGO1 26523 broad.mit.edu 37 1 36383945 36383945 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:36383945C>A ENST00000373204.4 + 17 2399 c.2186C>A c.(2185-2187)cCa>cAa p.P729Q AGO1_ENST00000373206.1_Missense_Mutation_p.P654Q NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 GGTAACATCCCAGCTGGGACC 0.512 8 228 --- --- --- --- ZC3H12A 80149 broad.mit.edu 37 1 37948984 37948984 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:37948984C>A ENST00000373087.6 + 6 1688 c.1572C>A c.(1570-1572)ccC>ccA p.P524P NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 524 Pro-rich. angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGCCCCCACCCACATCAGTCC 0.667 6 118 --- --- --- --- PTCH2 8643 broad.mit.edu 37 1 45297648 45297648 + Splice_Site SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:45297648C>A ENST00000447098.2 - 4 535 c.524G>T c.(523-525)cGg>cTg p.R175L PTCH2_ENST00000372192.3_Splice_Site_p.R175L NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 175 R -> W (in Ref. 1; AAC79847 and 4; AAQ88919/AAQ89375). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity p.R175L(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GACACTTACCCGCTCAATCAT 0.507 Basal Cell Nevus syndrome 6 171 --- --- --- --- HECTD3 79654 broad.mit.edu 37 1 45475081 45475081 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:45475081C>A ENST00000372172.4 - 6 1020 c.949G>T c.(949-951)Ggg>Tgg p.G317W NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 317 DOC. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity p.G317W(1)|p.G33W(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) AGGTTGTCCCCTTCACCCCCA 0.532 14 283 --- --- --- --- MROH7-TTC4 100527960 broad.mit.edu 37 1 55144482 55144482 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:55144482C>A ENST00000414150.2 + 11 2282 c.2004C>A c.(2002-2004)ccC>ccA p.P668P MROH7_ENST00000395690.2_Silent_p.P668P|MROH7_ENST00000545244.1_Silent_p.P236P|MROH7_ENST00000454855.2_Silent_p.P186P|MROH7_ENST00000339553.5_Silent_p.P668P|MROH7_ENST00000409996.1_Silent_p.P236P|MROH7_ENST00000421030.2_Silent_p.P668P TCCTGGGGCCCTACAACCCTG 0.577 5 66 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109576 145109576 + RNA SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:145109576C>A ENST00000453618.1 + 0 565 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGCTGCCTTCCCTAAGACGTT 0.428 10 525 --- --- --- --- RP11-337C18.8 0 broad.mit.edu 37 1 146649722 146649722 + RNA SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:146649722G>T ENST00000607149.1 + 0 350 RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA CGCTGTTCCCGGGCGTGGCGC 0.741 3 21 --- --- --- --- CHD1L 9557 broad.mit.edu 37 1 146765330 146765330 + Silent SNP T T C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:146765330T>C ENST00000369258.4 + 21 2450 c.2430T>C c.(2428-2430)aaT>aaC p.N810N CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000431239.1_Silent_p.N716N NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 810 Macro. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) ATCGTTCCAATGTCCTGTCTG 0.463 26 151 --- --- --- --- SELENBP1 8991 broad.mit.edu 37 1 151339248 151339248 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:151339248G>T ENST00000426705.2 - 6 884 c.740C>A c.(739-741)gCa>gAa p.A247E SELENBP1_ENST00000447402.3_Missense_Mutation_p.A143E|SELENBP1_ENST00000368868.5_Missense_Mutation_p.A205E|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A141E NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 205 protein transport cytosol|membrane|nucleolus protein binding|selenium binding p.A205E(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATTGGGAGCTGCCCACTCAGT 0.587 6 194 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152329418 152329418 + Missense_Mutation SNP A A T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:152329418A>T ENST00000388718.5 - 3 916 c.844T>A c.(844-846)Tat>Aat p.Y282N FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 282 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAATTGCTATAACCACATGCA 0.428 33 157 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154247929 154247929 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:154247929C>A ENST00000328703.7 + 6 937 c.724C>A c.(724-726)Cga>Aga p.R242R HAX1_ENST00000532105.1_Silent_p.R114R|HAX1_ENST00000483970.2_Silent_p.R250R|HAX1_ENST00000457918.2_Silent_p.R194R NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 242 Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding p.R242R(1) cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TACAGTAACCCGACACGAAGC 0.493 Kostmann syndrome 5 191 --- --- --- --- ATP8B2 57198 broad.mit.edu 37 1 154317895 154317895 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:154317895C>A ENST00000368489.3 + 23 2667 c.2667C>A c.(2665-2667)ctC>ctA p.L889L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 875 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGCAGCGCCTCCTGCTGGTGC 0.532 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 434 --- --- --- --- OR10K1 391109 broad.mit.edu 37 1 158435737 158435737 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:158435737C>A ENST00000289451.2 + 1 466 c.386C>A c.(385-387)cCa>cAa p.P129Q NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) ATCTGTAACCCACTGCGCTAC 0.552 7 193 --- --- --- --- ATP1A2 477 broad.mit.edu 37 1 160097494 160097494 + Missense_Mutation SNP G G T rs121918612 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:160097494G>T ENST00000361216.3 + 8 990 c.901G>T c.(901-903)Ggg>Tgg p.G301W ATP1A2_ENST00000392233.3_Missense_Mutation_p.G301W NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 301 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGTATTCCTGGGGGTCTCCTT 0.577 7 196 --- --- --- --- FCRLB 127943 broad.mit.edu 37 1 161693343 161693343 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:161693343C>A ENST00000367948.2 + 5 454 c.239C>A c.(238-240)cCa>cAa p.P80Q FCRLB_ENST00000367944.3_Missense_Mutation_p.P73Q|FCRLB_ENST00000367945.1_Missense_Mutation_p.P73Q|FCRLB_ENST00000367946.3_Missense_Mutation_p.P80Q|FCRLB_ENST00000392158.1_Missense_Mutation_p.P80Q|FCRLB_ENST00000336830.5_Missense_Mutation_p.P80Q Q6BAA4 FCRLB_HUMAN Fc receptor-like B 80 Ig-like C2-type 1. endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GTGCAGACACCAGGGGTGTAT 0.592 5 92 --- --- --- --- F5 2153 broad.mit.edu 37 1 169511557 169511557 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:169511557C>A ENST00000367796.3 - 13 2987 c.2786G>T c.(2785-2787)tGg>tTg p.W929L F5_ENST00000367797.3_Missense_Mutation_p.W924L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 924 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AGGGTCCTTCCAGGGCCTCAT 0.488 6 144 --- --- --- --- FAM129A 116496 broad.mit.edu 37 1 184787940 184787940 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:184787940C>A ENST00000367511.3 - 9 1198 c.1005G>T c.(1003-1005)gcG>gcT p.A335A FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 335 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 AGCTTTTCTCCGCCGGCTGGG 0.547 5 169 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186275976 186275976 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:186275976C>A ENST00000445192.2 + 7 1170 c.1125C>A c.(1123-1125)ccC>ccA p.P375P PRG4_ENST00000367486.3_Silent_p.P332P|PRG4_ENST00000367484.3_Silent_p.P334P|PRG4_ENST00000367485.4_Silent_p.P282P|PRG4_ENST00000367483.4_Silent_p.P334P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 375 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 AGTCTGCACCCACCACCCCCA 0.637 6 110 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226550822 226550822 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:226550822G>T ENST00000366794.5 - 21 2969 c.2826C>A c.(2824-2826)ccC>ccA p.P942P PARP1_ENST00000490921.1_5'UTR NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 942 PARP catalytic. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GCTTGCCCTTGGGTAACTTGC 0.512 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 5 98 --- --- --- --- SIPA1L2 57568 broad.mit.edu 37 1 232579422 232579422 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:232579422G>T ENST00000366630.1 - 11 3721 c.3363C>A c.(3361-3363)ccC>ccA p.P1121P SIPA1L2_ENST00000308942.4_Silent_p.P195P|SIPA1L2_ENST00000262861.4_Silent_p.P1121P Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1121 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACTGGTTGCTGGGTGAGCTTC 0.493 6 143 --- --- --- --- NID1 4811 broad.mit.edu 37 1 236205549 236205549 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:236205549C>A ENST00000264187.6 - 4 878 c.796G>T c.(796-798)Ggg>Tgg p.G266W NID1_ENST00000366595.3_Missense_Mutation_p.G266W NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 266 NIDO. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCTGGACTCCCAATCTCAAAC 0.547 7 274 --- --- --- --- HEATR1 55127 broad.mit.edu 37 1 236734959 236734959 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr1:236734959C>A ENST00000366582.3 - 27 3849 c.3735G>T c.(3733-3735)caG>caT p.Q1245H HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1164H NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1245 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CCATATTTCCCTGCTCTTGTG 0.378 5 55 --- --- --- --- GREB1 9687 broad.mit.edu 37 2 11718500 11718500 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:11718500C>A ENST00000381486.2 + 6 1015 c.715C>A c.(715-717)Ccc>Acc p.P239T GREB1_ENST00000389825.3_Missense_Mutation_p.P129T|GREB1_ENST00000234142.5_Missense_Mutation_p.P239T|GREB1_ENST00000381483.2_Missense_Mutation_p.P239T|GREB1_ENST00000263834.5_Missense_Mutation_p.P239T NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 239 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGCTGCCTTCCCCAGCGAGCC 0.617 6 140 --- --- --- --- KCNK3 3777 broad.mit.edu 37 2 26950700 26950700 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:26950700G>T ENST00000302909.3 + 2 574 c.449G>T c.(448-450)cGg>cTg p.R150L NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 150 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGGCATGCGGCGCGCCGAC 0.652 5 102 --- --- --- --- CGREF1 10669 broad.mit.edu 37 2 27324270 27324270 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:27324270C>A ENST00000402394.1 - 6 1097 c.829G>T c.(829-831)Ggg>Tgg p.G277W CGREF1_ENST00000260595.5_Missense_Mutation_p.G260W|CGREF1_ENST00000405600.1_Missense_Mutation_p.G277W|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G277W|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G399W NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 260 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCTGGCCCCCAGCTTCCCCT 0.637 9 377 --- --- --- --- CEP68 23177 broad.mit.edu 37 2 65299088 65299088 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:65299088C>A ENST00000377990.2 + 3 1061 c.858C>A c.(856-858)ccC>ccA p.P286P RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Silent_p.P286P|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Silent_p.P286P NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 286 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 CTCCATCACCCGACCGCCACT 0.577 6 160 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71730401 71730401 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:71730401C>A ENST00000258104.3 + 4 571 c.294C>A c.(292-294)tcC>tcA p.S98S DYSF_ENST00000409651.1_Silent_p.S99S|DYSF_ENST00000410020.3_Silent_p.S99S|DYSF_ENST00000410041.1_Silent_p.S99S|DYSF_ENST00000429174.2_Silent_p.S98S|DYSF_ENST00000413539.2_Silent_p.S98S|DYSF_ENST00000409744.1_Silent_p.S99S|DYSF_ENST00000409762.1_Silent_p.S98S|DYSF_ENST00000409366.1_Silent_p.S99S|DYSF_ENST00000409582.3_Silent_p.S98S|DYSF_ENST00000394120.2_Silent_p.S99S NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 98 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTAGTCTGTCCGCCAGCTTCA 0.587 5 138 --- --- --- --- TTC31 64427 broad.mit.edu 37 2 74720244 74720244 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:74720244C>A ENST00000233623.5 + 13 1466 c.1459C>A c.(1459-1461)Cag>Aag p.Q487K TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Silent_p.P145P NM_022492.4 NP_071937.4 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 487 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GCCCCTCTCCCAGACTCAGAG 0.597 8 167 --- --- --- --- M1AP 130951 broad.mit.edu 37 2 74789417 74789417 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:74789417C>A ENST00000290536.5 - 8 1324 c.1208G>T c.(1207-1209)cGg>cTg p.R403L M1AP_ENST00000358434.2_Intron|M1AP_ENST00000409585.1_Missense_Mutation_p.R403L|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.R403L NM_001281296.1|NM_138804.3 NP_001268225.1|NP_620159.2 meiosis 1 associated protein p.R403Q(1) CATCAGTTCCCGCGTGGCCAC 0.587 6 164 --- --- --- --- REG3G 130120 broad.mit.edu 37 2 79253898 79253898 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:79253898G>T ENST00000272324.5 + 3 320 c.136G>T c.(136-138)Gcc>Tcc p.A46S REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 46 acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGGCTCCAAGGCCTATGGCTC 0.512 12 58 --- --- --- --- KANSL3 55683 broad.mit.edu 37 2 97271200 97271200 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:97271200C>A ENST00000599854.1 - 15 1996 c.1529G>T c.(1528-1530)aGg>aTg p.R510M KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Missense_Mutation_p.R597M|KANSL3_ENST00000441706.2_Missense_Mutation_p.R510M|KANSL3_ENST00000440133.1_Missense_Mutation_p.R417M NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 623 CAGCTGAACCCTAAGATCCTC 0.502 6 108 --- --- --- --- RPL31 6160 broad.mit.edu 37 2 101619172 101619172 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:101619172C>A ENST00000409711.1 + 1 20 c.9C>A c.(7-9)ccC>ccA p.P3P RPL31_ENST00000409038.1_Silent_p.P3P|RPL31_ENST00000409000.1_Silent_p.P3P|RPL31_ENST00000264258.3_Silent_p.P3P|RPL31_ENST00000409650.1_Silent_p.P3P|RPL31_ENST00000409028.4_Silent_p.P3P|RPL31_ENST00000409733.1_Silent_p.P3P|RPL31_ENST00000409320.3_Silent_p.P3P P62899 RL31_HUMAN ribosomal protein L31 3 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3) 8 AGATGGCTCCCGCAAAGAAGG 0.547 4 59 --- --- --- --- MAP4K4 9448 broad.mit.edu 37 2 102456434 102456434 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:102456434C>A ENST00000413150.2 + 10 982 c.927C>A c.(925-927)acC>acA p.T309T MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350198.4_Silent_p.T309T|MAP4K4_ENST00000324219.4_Silent_p.T309T|MAP4K4_ENST00000425019.1_Silent_p.T309T|MAP4K4_ENST00000347699.4_Silent_p.T309T|MAP4K4_ENST00000350878.4_Silent_p.T289T NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 309 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TAGATCGTACCAGGAAGAAGA 0.403 5 82 --- --- --- --- IWS1 55677 broad.mit.edu 37 2 128281334 128281334 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:128281334C>A ENST00000295321.4 - 2 327 c.68G>T c.(67-69)cGg>cTg p.R23L IWS1_ENST00000455721.2_Missense_Mutation_p.R30L|IWS1_ENST00000486662.1_Intron NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 23 transcription, DNA-dependent nucleus DNA binding p.R23L(1) cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CCCTGAATCCCGTTCATCCTG 0.423 5 239 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141777643 141777643 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:141777643C>A ENST00000389484.3 - 12 2789 c.1818G>T c.(1816-1818)gtG>gtT p.V606V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 606 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAATCCAGTCCACAGCAATGC 0.363 TSP Lung(27;0.18) 6 131 --- --- --- --- LY75 4065 broad.mit.edu 37 2 160709826 160709826 + Nonsense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:160709826C>A ENST00000263636.4 - 20 2728 c.2701G>T c.(2701-2703)Gga>Tga p.G901* LY75_ENST00000554112.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.G901*|LY75_ENST00000553424.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.G901* NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) CATTCCTCTCCAAATGTCACA 0.358 5 87 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166848589 166848589 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:166848589G>T ENST00000423058.2 - 26 5213 c.5196C>A c.(5194-5196)ccC>ccA p.P1732P SCN1A_ENST00000375405.3_Silent_p.P1721P|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Silent_p.P1732P|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.P1704P NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1732 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGTTGAGAATGGGTGCTAGCA 0.458 8 275 --- --- --- --- CHN1 1123 broad.mit.edu 37 2 175677131 175677131 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:175677131C>A ENST00000409900.3 - 9 1105 c.792G>T c.(790-792)aaG>aaT p.K264N CHN1_ENST00000409597.1_Missense_Mutation_p.K80N|CHN1_ENST00000409156.3_Missense_Mutation_p.K238N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.K139N NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 264 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.K264N(1)|p.K139N(1) NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) AGCTGTACACCTTTTTGACAT 0.443 T TAF15 extraskeletal myxoid chondrosarcoma 6 121 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179424579 179424579 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:179424579C>A ENST00000589042.1 - 326 86504 c.86280G>T c.(86278-86280)atG>atT p.M28760I TTN_ENST00000460472.2_Missense_Mutation_p.M19695I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M27119I|TTN_ENST00000342992.6_Missense_Mutation_p.M26192I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19887I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19820I|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27119 Fibronectin type-III 109. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGTCTTCCTCATTTCACTGT 0.458 6 191 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179449161 179449161 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:179449161C>A ENST00000589042.1 - 311 65341 c.65117G>T c.(65116-65118)tGg>tTg p.W21706L TTN_ENST00000460472.2_Missense_Mutation_p.W12641L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W20065L|TTN_ENST00000342992.6_Missense_Mutation_p.W19138L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W12833L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W12766L|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20065 Ig-like 114. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCTTTCACCCACAGCAAACT 0.428 5 97 --- --- --- --- WDFY1 57590 broad.mit.edu 37 2 224746771 224746771 + Missense_Mutation SNP C C A rs144919121 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr2:224746771C>A ENST00000233055.4 - 10 1054 c.952G>T c.(952-954)Ggg>Tgg p.G318W NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 318 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) ACAGCCTGCCCGCATTTCCTG 0.512 6 286 --- --- --- --- SGOL1 151648 broad.mit.edu 37 3 20219807 20219807 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr3:20219807G>T ENST00000412997.1 - 4 723 c.372C>A c.(370-372)ccC>ccA p.P124P SGOL1_ENST00000452020.1_Silent_p.P124P|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000383774.1_Silent_p.P124P|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Silent_p.P124P|SGOL1_ENST00000263753.4_Silent_p.P124P|SGOL1_ENST00000419233.2_Silent_p.P124P|SGOL1_ENST00000443724.1_Silent_p.P124P|SGOL1_ENST00000429446.3_Silent_p.P124P|SGOL1_ENST00000417364.1_Silent_p.P124P|SGOL1_ENST00000442720.1_Silent_p.P124P|SGOL1_ENST00000437051.1_Silent_p.P124P|SGOL1_ENST00000425061.1_Silent_p.P124P|SGOL1_ENST00000421451.1_Silent_p.P124P|SGOL1_ENST00000412868.1_Silent_p.P124P NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 124 Necessary for interaction with PPP2CA and PPP2R1A. attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 CATCACTATTGGGGTCCATTC 0.299 6 109 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38139373 38139373 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr3:38139373C>A ENST00000308059.6 + 18 2725 c.2704C>A c.(2704-2706)Ctc>Atc p.L902I DLEC1_ENST00000346219.3_Missense_Mutation_p.L902I|DLEC1_ENST00000452631.2_Missense_Mutation_p.L902I Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 902 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCCAGTCTCCCTCCAGGAAAG 0.597 5 51 --- --- --- --- CCDC36 339834 broad.mit.edu 37 3 49294496 49294496 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr3:49294496C>A ENST00000438782.1 + 8 1802 c.1566C>A c.(1564-1566)ccC>ccA p.P522P CCDC36_ENST00000296449.5_Silent_p.P522P|CCDC36_ENST00000452691.2_Silent_p.P522P Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 522 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CAGTCATGCCCAATAAGACAG 0.582 6 148 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52598192 52598192 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr3:52598192G>T ENST00000356770.4 - 22 3655 c.3653C>A c.(3652-3654)cCa>cAa p.P1218Q PBRM1_ENST00000409057.1_Missense_Mutation_p.P1250Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.P1250Q|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1225Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.P1250Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.P1265Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1225Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.P1265Q Q86U86 PB1_HUMAN polybromo 1 1250 BAH 2. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GTCATTTTCTGGTATTTCAGT 0.408 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 5 98 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65342651 65342651 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr3:65342651C>A ENST00000402939.2 - 23 3790 c.3791G>T c.(3790-3792)aGg>aTg p.R1264M MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1293 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TTTCGGATCCCTTGCGTGTGC 0.592 6 131 --- --- --- --- SLC15A2 6565 broad.mit.edu 37 3 121641932 121641932 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr3:121641932C>A ENST00000489711.1 + 10 1301 c.913C>A c.(913-915)Ctt>Att p.L305I SLC15A2_ENST00000295605.2_Missense_Mutation_p.L274I NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 305 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding p.L305I(1) NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GGTACTATTCCTTTATATCCC 0.458 7 215 --- --- --- --- ZNF148 7707 broad.mit.edu 37 3 124951822 124951822 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr3:124951822G>T ENST00000360647.4 - 9 2233 c.1748C>A c.(1747-1749)cCg>cAg p.P583Q SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000484491.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000468369.1_Intron NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 583 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 ATTCTCTGACGGGGTGACCTC 0.438 6 126 --- --- --- --- ZIC4 84107 broad.mit.edu 37 3 147108857 147108857 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr3:147108857C>A ENST00000383075.3 - 4 1377 c.865G>T c.(865-867)Ggg>Tgg p.G289W ZIC4_ENST00000425731.3_Missense_Mutation_p.G327W|ZIC4_ENST00000525172.2_Missense_Mutation_p.G339W|ZIC4_ENST00000484399.1_Missense_Mutation_p.G289W|ZIC4_ENST00000473123.1_Missense_Mutation_p.G289W|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.G83W NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 289 nucleus DNA binding|zinc ion binding p.G289W(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GGCGAGCGCCCGTGCACCTTC 0.662 4 72 --- --- --- --- MRPL47 57129 broad.mit.edu 37 3 179311582 179311582 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr3:179311582C>A ENST00000476781.1 - 5 533 c.504G>T c.(502-504)tgG>tgT p.W168C MRPL47_ENST00000259038.2_Missense_Mutation_p.W148C|MRPL47_ENST00000392659.2_Missense_Mutation_p.W58C NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 168 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) TGTCTCTTCTCCAAGCACCAG 0.438 6 169 --- --- --- --- LNX1 84708 broad.mit.edu 37 4 54362300 54362300 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:54362300C>A ENST00000306888.2 - 5 1203 c.952G>T c.(952-954)Ggc>Tgc p.G318C LNX1_ENST00000263925.7_Missense_Mutation_p.G414C|FIP1L1_ENST00000507166.1_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 414 PDZ 1. cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) GCCACACCGCCATCCAGCACA 0.502 6 182 --- --- --- --- NOA1 84273 broad.mit.edu 37 4 57829644 57829644 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:57829644C>A ENST00000264230.4 - 7 3306 c.2069G>T c.(2068-2070)aGg>aTg p.R690M NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 690 GTP binding TTTCTTCTTCCTCACGTTGTA 0.373 7 207 --- --- --- --- HELQ 113510 broad.mit.edu 37 4 84374734 84374734 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:84374734C>A ENST00000295488.3 - 2 824 c.662G>T c.(661-663)aGg>aTg p.R221M HELQ_ENST00000510985.1_Missense_Mutation_p.R221M NM_133636.2 NP_598375 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 221 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CTTCCAATCCCTTTCTTTCAT 0.408 Other identified genes with known or suspected DNA repair function 5 99 --- --- --- --- TBCK 93627 broad.mit.edu 37 4 107229970 107229970 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:107229970G>T ENST00000273980.5 - 3 595 c.148C>A c.(148-150)Cat>Aat p.H50N TBCK_ENST00000394706.3_Missense_Mutation_p.H50N|TBCK_ENST00000394708.2_Missense_Mutation_p.H50N|TBCK_ENST00000361687.4_Missense_Mutation_p.H50N|TBCK_ENST00000432496.2_Missense_Mutation_p.H50N Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase Protein kinase. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 AGTCTGGGATGGGTGATGGTT 0.398 6 115 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126237601 126237601 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:126237601C>A ENST00000394329.3 + 1 48 c.35C>A c.(34-36)cCg>cAg p.P12Q NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 12 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACTGGCCGCCCGTGGCTCCCG 0.557 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 222 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128635247 128635247 + Splice_Site SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:128635247G>T ENST00000335251.6 + 15 2819 c.2716G>T c.(2716-2718)Ggg>Tgg p.G906W NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 CTGGGTAGTAGGGTAAGTGAG 0.338 5 62 --- --- --- --- JADE1 79960 broad.mit.edu 37 4 129778549 129778549 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:129778549C>A ENST00000226319.6 + 8 1201 c.921C>A c.(919-921)ccC>ccA p.P307P PHF17_ENST00000413543.2_Silent_p.P307P|PHF17_ENST00000512960.1_Silent_p.P307P|PHF17_ENST00000452328.2_Silent_p.P295P|PHF17_ENST00000511647.1_Silent_p.P307P NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 307 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CACACATTCCCAGCAGCCGGT 0.522 8 262 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129809839 129809839 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:129809839G>T ENST00000281142.5 - 20 2502 c.1999C>A c.(1999-2001)Cag>Aag p.Q667K SCLT1_ENST00000503215.1_Missense_Mutation_p.Q263K|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Missense_Mutation_p.Q286K|SCLT1_ENST00000439369.2_Missense_Mutation_p.Q154K NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 667 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 CCTACCTGCTGGGAAGCTGAA 0.383 6 108 --- --- --- --- WDR17 116966 broad.mit.edu 37 4 177069298 177069298 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:177069298G>T ENST00000393643.2 + 13 1961 c.1709G>T c.(1708-1710)tGg>tTg p.W570L WDR17_ENST00000508596.1_Missense_Mutation_p.W570L|WDR17_ENST00000507824.2_Missense_Mutation_p.W577L|WDR17_ENST00000280190.4_Missense_Mutation_p.W594L NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 594 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GTTCGAATCTGGGATTATACT 0.328 5 126 --- --- --- --- NEIL3 55247 broad.mit.edu 37 4 178257465 178257465 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:178257465C>A ENST00000264596.3 + 4 735 c.617C>A c.(616-618)cCa>cAa p.P206Q NM_018248.2 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 206 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) GGTCTCCACCCAGCTGTTAAA 0.403 Base excision repair (BER), DNA glycosylases 5 89 --- --- --- --- TENM3 55714 broad.mit.edu 37 4 183522162 183522162 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:183522162C>A ENST00000511685.1 + 4 720 c.597C>A c.(595-597)tcC>tcA p.S199S TENM3_ENST00000406950.2_Silent_p.S199S teneurin transmembrane protein 3 ATCATCCATCCATCACTTCTC 0.552 7 235 --- --- --- --- TENM3 55714 broad.mit.edu 37 4 183714859 183714859 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr4:183714859C>A ENST00000511685.1 + 26 7157 c.7034C>A c.(7033-7035)cCa>cAa p.P2345Q TENM3_ENST00000406950.2_Missense_Mutation_p.P2345Q teneurin transmembrane protein 3 CTGTATGACCCACTCACCAAA 0.398 6 102 --- --- --- --- CDH6 1004 broad.mit.edu 37 5 31323130 31323130 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:31323130C>A ENST00000265071.2 + 12 2353 c.2088C>A c.(2086-2088)gcC>gcA p.A696A NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 696 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGCCCGAAGCCCTTTTCCTAC 0.522 9 60 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31983622 31983622 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:31983622C>A ENST00000438447.1 + 3 1226 c.838C>A c.(838-840)Cat>Aat p.H280N PDZD2_ENST00000282493.3_Missense_Mutation_p.H280N O15018 PDZD2_HUMAN PDZ domain containing 2 280 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGCTGGACCCCATCTAGAGAG 0.522 5 125 --- --- --- --- HMGCS1 3157 broad.mit.edu 37 5 43294964 43294964 + Splice_Site SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:43294964C>A ENST00000325110.6 - 7 1112 c.e7-1 HMGCS1_ENST00000433297.2_Splice_Site NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 TTTAACATCCCTGAAAGATTT 0.323 7 87 --- --- --- --- POC5 134359 broad.mit.edu 37 5 74970301 74970301 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:74970301G>T ENST00000428202.2 - 12 1876 c.1687C>A c.(1687-1689)Cag>Aag p.Q563K POC5_ENST00000380475.2_Missense_Mutation_p.Q387K|POC5_ENST00000514838.2_Missense_Mutation_p.Q535K|POC5_ENST00000510798.1_Missense_Mutation_p.Q387K|POC5_ENST00000446329.2_Missense_Mutation_p.Q538K NM_001099271.1 NP_001092741.1 Q8NA72 POC5_HUMAN POC5 centriolar protein 563 cell cycle centriole breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GTGAGAGACTGGGTGTGAGCT 0.443 6 243 --- --- --- --- FBXL17 64839 broad.mit.edu 37 5 107216868 107216868 + Missense_Mutation SNP A A G TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:107216868A>G ENST00000542267.1 - 8 2241 c.1835T>C c.(1834-1836)aTt>aCt p.I612T FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 612 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) GTATCGCCCAATGGCTATCAG 0.453 24 103 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118483101 118483101 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:118483101G>T ENST00000311085.8 + 17 2927 c.2847G>T c.(2845-2847)atG>atT p.M949I DMXL1_ENST00000539542.1_Missense_Mutation_p.M949I NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 949 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TTTCAGAAATGGTTTATAGCC 0.363 5 62 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127648440 127648440 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:127648440C>A ENST00000508053.1 - 43 5739 c.4765G>T c.(4765-4767)Ggg>Tgg p.G1589W FBN2_ENST00000262464.4_Missense_Mutation_p.G1589W P35556 FBN2_HUMAN fibrillin 2 1589 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GACAGACTCCCATCTCCTCGA 0.557 8 302 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137803740 137803740 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:137803740C>A ENST00000239938.4 + 2 1874 c.1602C>A c.(1600-1602)acC>acA p.T534T NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 534 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TGACAGCAACCTTTTCTCCCA 0.512 6 106 --- --- --- --- PCDHB10 56126 broad.mit.edu 37 5 140572969 140572969 + Missense_Mutation SNP T T G rs143726447 byFrequency TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:140572969T>G ENST00000239446.4 + 1 1028 c.844T>G c.(844-846)Ttt>Gtt p.F282V NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 282 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTATTCATTTTTTGATGCCTC 0.393 12 58 --- --- --- --- PCDHGA5 56110 broad.mit.edu 37 5 140745592 140745592 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:140745592C>A ENST00000518069.1 + 1 1695 c.1695C>A c.(1693-1695)ccC>ccA p.P565P PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTGTACCCCGCCCTCCCCA 0.612 6 197 --- --- --- --- PCDHGA11 56105 broad.mit.edu 37 5 140801620 140801620 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:140801620G>T ENST00000398587.2 + 1 859 c.826G>T c.(826-828)Ggg>Tgg p.G276W PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G276W|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 p.G276R(2) breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAATCAACGGGGAAGTAAT 0.463 5 221 --- --- --- --- PPP2R2B 5521 broad.mit.edu 37 5 146080644 146080644 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:146080644C>A ENST00000394413.3 - 2 702 c.132G>T c.(130-132)aaG>aaT p.K44N PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K47N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K102N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K33N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K44N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K50N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K110N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K33N Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 44 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCGACCCCCCTTGTCCCCTG 0.448 10 545 --- --- --- --- SPINK5 11005 broad.mit.edu 37 5 147486631 147486631 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:147486631G>T ENST00000359874.3 + 17 1584 c.1511G>T c.(1510-1512)aGg>aTg p.R504M SPINK5_ENST00000398454.1_Missense_Mutation_p.R504M|SPINK5_ENST00000256084.7_Missense_Mutation_p.R504M NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 504 Kazal-like 8. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCAAGTGAGGAATGGAACA 0.438 6 115 --- --- --- --- NKX2-5 1482 broad.mit.edu 37 5 172659608 172659608 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr5:172659608C>A ENST00000329198.4 - 2 1212 c.939G>T c.(937-939)tcG>tcT p.S313S NM_001166175.1|NM_001166176.1|NM_004387.3 NP_001159647.1|NP_001159648.1|NP_004378.1 P52952 NKX25_HUMAN NK2 homeobox 5 313 adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1) 12 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGGACACTCCCGAGTTGCTCT 0.657 4 50 --- --- --- --- IRF4 3662 broad.mit.edu 37 6 397187 397187 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:397187C>A ENST00000380956.4 + 5 698 c.572C>A c.(571-573)cCg>cAg p.P191Q IRF4_ENST00000495137.1_3'UTR NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 191 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CCGGAAATCCCGTACCAATGT 0.567 T IGH@ MM 6 143 --- --- --- --- EEF1E1 9521 broad.mit.edu 37 6 8097604 8097604 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:8097604C>A ENST00000379715.5 - 2 240 c.184G>T c.(184-186)Ggg>Tgg p.G62W EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000429723.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000507463.1_Missense_Mutation_p.G62W NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 62 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) GCAGTACTCCCCAGCAAATAT 0.418 6 135 --- --- --- --- MYLIP 29116 broad.mit.edu 37 6 16145414 16145414 + Silent SNP C C A rs141183183 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:16145414C>A ENST00000349606.4 + 5 1075 c.571C>A c.(571-573)Cgg>Agg p.R191R MYLIP_ENST00000356840.3_Silent_p.R372R Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 372 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding p.R372R(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) CCAGCAGACCCGGGTGCTGCA 0.582 5 137 --- --- --- --- HIST1H2AE 3012 broad.mit.edu 37 6 26217532 26217532 + Silent SNP C C A rs16891432 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:26217532C>A ENST00000303910.2 + 1 368 c.330C>A c.(328-330)ccC>ccA p.P110P NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 110 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) GTGTCCTGCCCAACATCCAGG 0.572 5 71 --- --- --- --- ZNF322 79692 broad.mit.edu 37 6 26637649 26637649 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:26637649G>T ENST00000415922.2 - 4 1778 c.1133C>A c.(1132-1134)cCg>cAg p.P378Q ZNF322_ENST00000471278.1_Missense_Mutation_p.P378Q NM_024639.4 NP_078915.2 Q6U7Q0 Z322A_HUMAN zinc finger protein 322 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ACAGACAAACGGTTTTTCACC 0.443 7 394 --- --- --- --- HIST1H4L 8368 broad.mit.edu 37 6 27841267 27841267 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:27841267C>A ENST00000355981.2 - 1 22 c.22G>T c.(22-24)Ggg>Tgg p.G8W NM_003546.2 NP_003537.1 P62805 H4_HUMAN histone cluster 1, H4l 8 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 13 AGACccttcccgcctttgccg 0.557 4 69 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653707 30653707 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:30653707C>A ENST00000274853.3 - 1 1965 c.89G>T c.(88-90)cGg>cTg p.R30L PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.R30L NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 30 cytoplasm|cytoskeleton actin binding CAGGCGCTCCCGTTCTGCTTT 0.677 6 193 --- --- --- --- CFB 629 broad.mit.edu 37 6 31914338 31914338 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:31914338C>A ENST00000456570.1 + 14 1814 c.1759C>A c.(1759-1761)Ctg>Atg p.L587M CFB_ENST00000425368.2_Missense_Mutation_p.L85M|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.L587M P00751 CFAB_HUMAN complement factor B 85 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CTGGAGCACCCTGAAGACTCA 0.577 5 37 --- --- --- --- BRPF3 27154 broad.mit.edu 37 6 36196700 36196700 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:36196700C>A ENST00000534400.1 + 10 3229 c.3203C>A c.(3202-3204)cCg>cAg p.P1068Q BRPF3_ENST00000543502.1_Silent_p.R831R|BRPF3_ENST00000534694.1_Silent_p.R767R|BRPF3_ENST00000443324.2_Silent_p.R767R|BRPF3_ENST00000339717.7_Silent_p.R831R|BRPF3_ENST00000357641.6_Silent_p.R1101R Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 960 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CAAGATGCCCCGGGAGGGCCT 0.612 6 106 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38980409 38980409 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:38980409C>A ENST00000359357.3 + 89 13313 c.13059C>A c.(13057-13059)ccC>ccA p.P4353P DNAH8_ENST00000441566.1_Silent_p.P4317P dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCTTTAATCCCCAAGGTATGT 0.378 6 160 --- --- --- --- USP49 25862 broad.mit.edu 37 6 41774513 41774513 + Missense_Mutation SNP C C A rs139687733 by1000genomes TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:41774513C>A ENST00000394253.3 - 3 538 c.209G>T c.(208-210)cGg>cTg p.R70L USP49_ENST00000373009.3_Missense_Mutation_p.R70L|USP49_ENST00000373006.1_Missense_Mutation_p.R70L|USP49_ENST00000297229.2_Missense_Mutation_p.R70L|USP49_ENST00000373010.1_Missense_Mutation_p.R70L Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 70 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding p.R70L(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTAGAGATCCCGGACTTCCAT 0.592 7 164 --- --- --- --- POLR1C 9533 broad.mit.edu 37 6 43488045 43488045 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:43488045G>T ENST00000372389.3 + 6 623 c.535G>T c.(535-537)Ggg>Tgg p.G179W POLR1C_ENST00000304004.3_Missense_Mutation_p.G179W|POLR1C_ENST00000372344.2_Missense_Mutation_p.G179W NM_203290.2 NP_976035.1 O15160 RPAC1_HUMAN polymerase (RNA) I polypeptide C, 30kDa 179 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity kidney(1)|large_intestine(2)|lung(1)|prostate(1) 5 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) GATCCCCCTGGGGAACCAGGC 0.522 9 156 --- --- --- --- CYP39A1 51302 broad.mit.edu 37 6 46563765 46563765 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:46563765C>A ENST00000275016.2 - 8 1227 c.1024G>T c.(1024-1026)Ggt>Tgt p.G342C NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 342 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 GTAATGACACCAGGAGCTTTT 0.353 5 118 --- --- --- --- CRISP3 10321 broad.mit.edu 37 6 49703267 49703267 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:49703267C>A ENST00000433368.2 - 4 365 c.296G>T c.(295-297)tGg>tTg p.W99L CRISP3_ENST00000371159.4_Missense_Mutation_p.W107L|CRISP3_ENST00000263045.4_Missense_Mutation_p.W89L|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000393666.1_Missense_Mutation_p.W76L NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 76 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CTGGTTTGCCCACTTTTGGGC 0.358 6 211 --- --- --- --- CRISP3 10321 broad.mit.edu 37 6 49704221 49704221 + Splice_Site SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:49704221C>A ENST00000433368.2 - 3 211 c.e3-1 CRISP3_ENST00000371159.4_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Splice_Site NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AAGCGGGATCCTAAGGGAAAA 0.363 6 178 --- --- --- --- COL9A1 1297 broad.mit.edu 37 6 70965065 70965065 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:70965065C>A ENST00000357250.6 - 22 1690 c.1532G>T c.(1531-1533)gGa>gTa p.G511V COL9A1_ENST00000370499.4_Missense_Mutation_p.G268V|COL9A1_ENST00000320755.7_Missense_Mutation_p.G268V|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 511 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 ACCTGCTTCTCCTGGAGGTCC 0.363 6 134 --- --- --- --- MDN1 23195 broad.mit.edu 37 6 90460077 90460077 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:90460077C>A ENST00000369393.3 - 24 3517 c.3402G>T c.(3400-3402)aaG>aaT p.K1134N MDN1_ENST00000428876.1_Missense_Mutation_p.K1134N Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1134 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCCTACCTTCCTTAAAGACAA 0.408 6 117 --- --- --- --- AK9 221264 broad.mit.edu 37 6 109867181 109867181 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:109867181C>A ENST00000424296.2 - 26 3190 c.3114G>T c.(3112-3114)gtG>gtT p.V1038V AK9_ENST00000341338.6_Silent_p.V117V|AK9_ENST00000355283.1_Silent_p.V117V NM_001145128.2 NP_001138600.2 adenylate kinase 9 ATTCAGGTCCCACTTTCTTTT 0.368 6 105 --- --- --- --- DSE 29940 broad.mit.edu 37 6 116720686 116720686 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:116720686C>A ENST00000331677.3 + 3 717 c.273C>A c.(271-273)ccC>ccA p.P91P DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Silent_p.P91P|DSE_ENST00000359564.2_Silent_p.P91P|DSE_ENST00000537543.1_Silent_p.P110P Q9UL01 DSE_HUMAN dermatan sulfate epimerase 91 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CCTGGGATCCCAAGGACTACA 0.562 5 53 --- --- --- --- SLC35F1 222553 broad.mit.edu 37 6 118475607 118475607 + Splice_Site SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:118475607G>T ENST00000360388.4 + 2 374 c.e2-1 NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TTATTTCTCAGGGAGATGTTA 0.418 6 118 --- --- --- --- MED23 9439 broad.mit.edu 37 6 131939623 131939623 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:131939623C>A ENST00000403834.3 - 9 877 c.704G>T c.(703-705)gGt>gTt p.G235V MED23_ENST00000368068.3_Missense_Mutation_p.G235V|MED23_ENST00000354577.4_Missense_Mutation_p.G235V|MED23_ENST00000368058.1_Missense_Mutation_p.G235V|MED23_ENST00000368053.4_Missense_Mutation_p.G235V|MED23_ENST00000368060.3_Missense_Mutation_p.G235V|MED23_ENST00000540546.1_Missense_Mutation_p.G235V|MED23_ENST00000539158.1_Missense_Mutation_p.G235V Q9ULK4 MED23_HUMAN mediator complex subunit 23 235 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) ACAAATGGCACCCGAATTATT 0.368 5 27 --- --- --- --- TXLNB 167838 broad.mit.edu 37 6 139564168 139564168 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:139564168G>T ENST00000358430.3 - 10 1782 c.1550C>A c.(1549-1551)cCg>cAg p.P517Q RP1-225E12.3_ENST00000585874.1_RNA NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 517 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) GGACTGGTGCGGGGTTGACTC 0.527 7 215 --- --- --- --- HIVEP2 3097 broad.mit.edu 37 6 143081332 143081332 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:143081332C>A ENST00000367603.2 - 9 6835 c.6093G>T c.(6091-6093)gaG>gaT p.E2031D HIVEP2_ENST00000367604.1_Missense_Mutation_p.E2031D|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E2031D NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2031 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AGGAGCTTGGCTCTGAAGGTA 0.483 6 193 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157511228 157511228 + Missense_Mutation SNP C C A rs150196933 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:157511228C>A ENST00000346085.5 + 15 3747 c.3746C>A c.(3745-3747)cCg>cAg p.P1249Q ARID1B_ENST00000350026.5_Missense_Mutation_p.P1236Q|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1289Q|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1231Q NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1236 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.P1231Q(1)|p.P1249Q(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TCATCCTTCCCGAAACGGAAC 0.512 6 229 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157528693 157528693 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:157528693C>A ENST00000346085.5 + 20 6419 c.6418C>A c.(6418-6420)Caa>Aaa p.Q2140K ARID1B_ENST00000350026.5_Missense_Mutation_p.Q2127K|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2180K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2122K NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 2127 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GAACCTTGCCCAAGGGGACGC 0.498 8 307 --- --- --- --- KIF25 3834 broad.mit.edu 37 6 168431490 168431490 + Nonsense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr6:168431490G>T ENST00000443060.2 + 4 521 c.130G>T c.(130-132)Gga>Tga p.G44* KIF25_ENST00000351261.3_Nonsense_Mutation_p.G44*|KIF25_ENST00000354419.2_Nonsense_Mutation_p.G44* Q9UIL4 KIF25_HUMAN kinesin family member 25 44 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CGCGGTCTTTGGAGATGTGTG 0.428 6 129 --- --- --- --- MAD1L1 8379 broad.mit.edu 37 7 2041727 2041727 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:2041727C>A ENST00000406869.1 - 14 1946 c.1389G>T c.(1387-1389)ctG>ctT p.L463L MAD1L1_ENST00000402746.1_Silent_p.L371L|MAD1L1_ENST00000399654.2_Silent_p.L463L|MAD1L1_ENST00000265854.7_Silent_p.L463L Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 463 Necessary for interaction with NEK2. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) TCTGGCCTCCCAGCTCCTCCA 0.627 7 235 --- --- --- --- AMZ1 155185 broad.mit.edu 37 7 2740198 2740198 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:2740198C>A ENST00000312371.4 + 2 481 c.113C>A c.(112-114)cCt>cAt p.P38H AMZ1_ENST00000407112.1_Missense_Mutation_p.P38H NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 38 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) GCCTTCTCCCCTGCCGAGCGG 0.667 7 228 --- --- --- --- DFNA5 1687 broad.mit.edu 37 7 24758794 24758794 + Translation_Start_Site SNP C C A rs78941420 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:24758794C>A ENST00000545231.1 - 0 1106 DFNA5_ENST00000409970.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000342947.3_Nonsense_Mutation_p.G150*|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.G150*|DFNA5_ENST00000419307.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000559637.1_5'UTR O60443 DFNA5_HUMAN deafness, autosomal dominant 5 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 TCATTCCTTCCTTCCAGCACC 0.493 6 128 --- --- --- --- POM121L12 285877 broad.mit.edu 37 7 53104001 53104001 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:53104001C>A ENST00000408890.4 + 1 653 c.637C>A c.(637-639)Cgg>Agg p.R213R NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 213 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCTGCAGCCCCGGCCCTCTGC 0.672 5 111 --- --- --- --- FAM133B 257415 broad.mit.edu 37 7 92219586 92219586 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:92219586C>A ENST00000445716.1 - 1 122 c.20G>T c.(19-21)cGg>cTg p.R7L FAM133B_ENST00000438306.1_5'UTR NM_152789.2 NP_690002.2 Q5BKY9 F133B_HUMAN family with sequence similarity 133, member B 7 endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1) 4 all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) ACTCACCACCCGATTGTCCCG 0.697 OREG0018164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 72 --- --- --- --- PEG10 23089 broad.mit.edu 37 7 94293631 94293631 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:94293631C>A ENST00000482108.1 + 2 1242 c.763C>A c.(763-765)Cgg>Agg p.R255R PEG10_ENST00000488574.1_Silent_p.R255R NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 255 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CTCGCCACCCCGGGCGCTGGT 0.622 4 24 --- --- --- --- CYP3A43 64816 broad.mit.edu 37 7 99457531 99457531 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:99457531C>A ENST00000354829.2 + 10 1047 c.944C>A c.(943-945)cCc>cAc p.P315H CYP3A43_ENST00000312017.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000444905.1_Missense_Mutation_p.P62H|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P205H|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000415413.1_Missense_Mutation_p.P104H|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Missense_Mutation_p.P175H NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 315 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) ACCACTCTCCCCTTCATTATG 0.463 6 153 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100674448 100674448 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:100674448C>A ENST00000306151.4 + 2 194 c.130C>A c.(130-132)Caa>Aaa p.Q44K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 44 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTGCATCTCCCAAGGGGACGT 0.537 6 190 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103234873 103234873 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:103234873G>T ENST00000428762.1 - 26 3765 c.3606C>A c.(3604-3606)ccC>ccA p.P1202P RELN_ENST00000343529.5_Silent_p.P1202P|RELN_ENST00000424685.2_Silent_p.P1202P NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1202 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGAGAACACGGGCTGCCACC 0.488 6 283 --- --- --- --- RBM28 55131 broad.mit.edu 37 7 127954917 127954917 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:127954917C>A ENST00000223073.2 - 17 2059 c.1945G>T c.(1945-1947)Ggg>Tgg p.G649W RBM28_ENST00000415472.2_Missense_Mutation_p.G508W|RBM28_ENST00000481788.1_5'UTR NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 GTCTGGAACCCGGTCCATGAG 0.567 7 305 --- --- --- --- CALD1 800 broad.mit.edu 37 7 134650097 134650097 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:134650097G>T ENST00000361388.2 + 14 2115 c.1649G>T c.(1648-1650)tGg>tTg p.W550L CALD1_ENST00000361675.2_Missense_Mutation_p.W779L|CALD1_ENST00000495522.1_Missense_Mutation_p.W543L|CALD1_ENST00000424922.1_Missense_Mutation_p.W518L|CALD1_ENST00000417172.1_Missense_Mutation_p.W524L|CALD1_ENST00000543443.1_Missense_Mutation_p.W529L|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Missense_Mutation_p.W549L|CALD1_ENST00000393118.2_Missense_Mutation_p.W544L|CALD1_ENST00000361901.2_Missense_Mutation_p.W524L NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 779 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 CGGAACCTCTGGGAAAAGCAA 0.428 7 178 --- --- --- --- SLC37A3 84255 broad.mit.edu 37 7 140043268 140043268 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:140043268C>A ENST00000326232.9 - 13 1473 c.1270G>T c.(1270-1272)Gcc>Tcc p.A424S SLC37A3_ENST00000340308.3_Intron|SLC37A3_ENST00000447932.2_Missense_Mutation_p.A408S NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 424 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) GTGACAGTGGCCAAAGCTTCA 0.507 5 101 --- --- --- --- TMUB1 83590 broad.mit.edu 37 7 150779364 150779364 + Missense_Mutation SNP G G T rs146736140 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr7:150779364G>T ENST00000392818.3 - 2 644 c.287C>A c.(286-288)cCg>cAg p.P96Q TMUB1_ENST00000297533.4_Missense_Mutation_p.P96Q|TMUB1_ENST00000462940.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000482202.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000476627.1_Missense_Mutation_p.P96Q NM_031434.3 NP_113622.1 Q9BVT8 TMUB1_HUMAN transmembrane and ubiquitin-like domain containing 1 96 cytoplasm|integral to membrane|nucleus endometrium(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGGGGAGTCCGGGGCTGGCGG 0.647 8 262 --- --- --- --- AGPAT5 55326 broad.mit.edu 37 8 6605324 6605324 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr8:6605324G>T ENST00000285518.6 + 6 1032 c.720G>T c.(718-720)caG>caT p.Q240H AGPAT5_ENST00000530716.1_3'UTR NM_018361.3 NP_060831.2 Q9NUQ2 PLCE_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 5 240 phospholipid biosynthetic process integral to membrane|mitochondrion 1-acylglycerol-3-phosphate O-acyltransferase activity AGPAT5/MCPH1(2) endometrium(2)|kidney(2)|large_intestine(4)|lung(3) 11 STAD - Stomach adenocarcinoma(24;0.0578) READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191) ATGGAGGGCAGCGAAGAGAGT 0.413 8 78 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59720736 59720736 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr8:59720736C>A ENST00000361421.1 - 8 1705 c.1485G>T c.(1483-1485)tcG>tcT p.S495S NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 495 nucleus DNA binding p.S495S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TTCTGCACCCCGAACGCACAT 0.532 OREG0018787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 78 --- --- --- --- HSF1 3297 broad.mit.edu 37 8 145537689 145537689 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr8:145537689C>A ENST00000528838.1 + 12 1516 c.1356C>A c.(1354-1356)ccC>ccA p.P452P HSF1_ENST00000400780.4_Silent_p.P393P|HSF1_ENST00000528842.1_3'UTR NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 452 Transactivation domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) CCAGGCCTCCCGAGGCAGAGA 0.692 6 69 --- --- --- --- GPT 2875 broad.mit.edu 37 8 145730203 145730203 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr8:145730203C>A ENST00000394955.2 + 3 525 c.302C>A c.(301-303)cCt>cAt p.P101H GPT_ENST00000528431.1_Missense_Mutation_p.P101H NM_005309.2 NP_005300.1 P24298 ALAT1_HUMAN glutamic-pyruvate transaminase (alanine aminotransferase) 101 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCCAACTTCCCTGACGATGCC 0.657 8 339 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8465565 8465565 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:8465565C>A ENST00000381196.4 - 29 4158 c.3615G>T c.(3613-3615)ctG>ctT p.L1205L PTPRD_ENST00000358503.5_Silent_p.L1183L|PTPRD_ENST00000355233.5_Silent_p.L794L|PTPRD_ENST00000397606.3_Silent_p.L784L|PTPRD_ENST00000540109.1_Silent_p.L1205L|PTPRD_ENST00000356435.5_Silent_p.L1205L|PTPRD_ENST00000397617.3_Silent_p.L784L|PTPRD_ENST00000397611.3_Silent_p.L791L|PTPRD_ENST00000537002.1_Silent_p.L791L|PTPRD_ENST00000360074.4_Silent_p.L1192L|PTPRD_ENST00000486161.1_Silent_p.L794L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1205 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) TGTCATCCCCCAGGGTGAACT 0.433 TSP Lung(15;0.13) 5 101 --- --- --- --- FREM1 158326 broad.mit.edu 37 9 14842488 14842488 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:14842488G>T ENST00000380881.4 - 10 2382 c.1567C>A c.(1567-1569)Ccg>Acg p.P523T FREM1_ENST00000380880.3_Missense_Mutation_p.P522T|FREM1_ENST00000422223.2_Missense_Mutation_p.P522T Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 522 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) ATGAGGAACGGGGGACTATCA 0.517 6 128 --- --- --- --- MIR31HG 554202 broad.mit.edu 37 9 21512148 21512148 + RNA SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:21512148C>A ENST00000304425.3 - 0 181 MIR31_ENST00000362307.1_RNA NR_027054.1 AGCAGGTTCCCAGTTCAACAG 0.463 5 113 --- --- --- --- STOML2 30968 broad.mit.edu 37 9 35101709 35101709 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:35101709G>T ENST00000356493.5 - 5 504 c.442C>A c.(442-444)Cgg>Agg p.R148R STOML2_ENST00000452248.2_Silent_p.R148R NM_013442.1 NP_038470.1 Q9UJZ1 STML2_HUMAN stomatin (EPB72)-like 2 148 cytoskeleton receptor binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 16 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTGCTTACCCGGAAGACTTTG 0.507 6 229 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95263191 95263191 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:95263191C>A ENST00000344604.5 - 9 1898 c.1749G>T c.(1747-1749)ctG>ctT p.L583L CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L561L NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 583 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ACAAGTATTCCAGGCCTGGTT 0.478 6 118 --- --- --- --- ZNF484 83744 broad.mit.edu 37 9 95608641 95608641 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:95608641C>A ENST00000395505.2 - 3 2412 c.2320G>T c.(2320-2322)Ggg>Tgg p.G774W ZNF484_ENST00000395506.3_Missense_Mutation_p.G812W|ZNF484_ENST00000375495.3_Missense_Mutation_p.G810W|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.G774W NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 810 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 AAGGCTTTCCCCAAGTCACTG 0.428 8 242 --- --- --- --- FRRS1L 23732 broad.mit.edu 37 9 111909389 111909389 + Missense_Mutation SNP T T C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:111909389T>C ENST00000561981.2 - 3 556 c.557A>G c.(556-558)gAg>gGg p.E186G NM_014334.2 NP_055149.2 Q9P0K9 CI004_HUMAN ferric-chelate reductase 1-like DOMON. integral to membrane TGCACTCAGCTCAAATTCTAC 0.418 3 112 --- --- --- --- GARNL3 84253 broad.mit.edu 37 9 130152979 130152979 + Silent SNP C C A rs143165320 byFrequency TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:130152979C>A ENST00000373387.4 + 27 3155 c.2803C>A c.(2803-2805)Cgg>Agg p.R935R GARNL3_ENST00000435213.2_Silent_p.R913R|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 935 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 ATCAAAACCCCGGAAGCGGTT 0.572 5 169 --- --- --- --- GOLGA2 2801 broad.mit.edu 37 9 131022413 131022413 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:131022413C>A ENST00000421699.2 - 18 1745 c.1733G>T c.(1732-1734)aGg>aTg p.R578M GOLGA2_ENST00000609374.1_Missense_Mutation_p.R566M NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 578 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 TCCCAGCTCCCTCTTGACGTG 0.602 7 208 --- --- --- --- PNPLA7 375775 broad.mit.edu 37 9 140379166 140379166 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:140379166C>A ENST00000406427.1 - 21 2556 c.2220G>T c.(2218-2220)acG>acT p.T740T PNPLA7_ENST00000371457.1_Silent_p.T321T|PNPLA7_ENST00000277531.4_Silent_p.T715T NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 715 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TGCTGCCCTCCGTGGGGAGCC 0.672 3 15 --- --- --- --- ARRDC1 92714 broad.mit.edu 37 9 140509084 140509084 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr9:140509084C>A ENST00000371421.4 + 7 933 c.869C>A c.(868-870)cCa>cAa p.P290Q ARRDC1_ENST00000491911.1_3'UTR NM_152285.2 NP_689498.1 Q8N5I2 ARRD1_HUMAN arrestin domain containing 1 290 Pro-rich. breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) AACCATGCCCCAGTGAGCCCC 0.662 6 73 --- --- --- --- BEND7 222389 broad.mit.edu 37 10 13494598 13494598 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr10:13494598C>A ENST00000341083.3 - 7 1264 c.968G>T c.(967-969)tGg>tTg p.W323L BEND7_ENST00000396900.2_Missense_Mutation_p.W375L|BEND7_ENST00000396898.2_Missense_Mutation_p.W388L|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Missense_Mutation_p.W336L NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 375 BEN. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 AATCTGTACCCAATCTCTTGG 0.368 6 131 --- --- --- --- CSGALNACT2 55454 broad.mit.edu 37 10 43678849 43678849 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr10:43678849C>A ENST00000374466.3 + 8 1823 c.1488C>A c.(1486-1488)ccC>ccA p.P496P NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 496 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding p.P496P(1) endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGCTGACCCCCGAGCAGTACC 0.517 5 190 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46967673 46967673 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr10:46967673G>T ENST00000374323.4 - 3 1150 c.563C>A c.(562-564)cCg>cAg p.P188Q SYT15_ENST00000374325.3_Missense_Mutation_p.P135Q|SYT15_ENST00000374321.4_Missense_Mutation_p.P135Q|SYT15_ENST00000503753.1_Missense_Mutation_p.P135Q Q9BQS2 SYT15_HUMAN synaptotagmin XV C2 1. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 TTTGTCCTCCGGGAACTTGTA 0.627 6 203 --- --- --- --- NPY4R 5540 broad.mit.edu 37 10 47087380 47087380 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr10:47087380G>T ENST00000374312.1 + 3 1016 c.597G>T c.(595-597)gtG>gtT p.V199V NPY4R_ENST00000395716.1_Silent_p.V199V NM_005972.4 NP_005963.4 neuropeptide Y receptor Y4 CGGATAAGGTGGTCTGTACCG 0.582 5 133 --- --- --- --- ZNF365 22891 broad.mit.edu 37 10 64159350 64159350 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr10:64159350G>T ENST00000395254.3 + 5 1306 c.1026G>T c.(1024-1026)aaG>aaT p.K342N ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) TCCACCCAAAGGGAAGGAACC 0.562 7 219 --- --- --- --- CEP55 55165 broad.mit.edu 37 10 95259849 95259849 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr10:95259849G>T ENST00000371485.3 + 2 345 c.41G>T c.(40-42)tGg>tTg p.W14L NM_001127182.1|NM_018131.4 NP_001120654|NP_060601 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 14 cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) AAAAGTAAGTGGGGATCGAAG 0.318 7 182 --- --- --- --- PIK3AP1 118788 broad.mit.edu 37 10 98412456 98412456 + Splice_Site SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr10:98412456G>T ENST00000339364.5 - 4 830 c.711C>A c.(709-711)ccC>ccA p.P237P PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Splice_Site_p.P59P NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 237 DBB. cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ACTACTTACTGGGAGCCTTCA 0.458 6 154 --- --- --- --- PNLIPRP1 5407 broad.mit.edu 37 10 118363546 118363546 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr10:118363546G>T ENST00000528052.1 + 11 1139 c.1068G>T c.(1066-1068)tgG>tgT p.W356C PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W356C|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W356C P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 356 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GTGCAGGCTGGAGATATGGGG 0.438 4 29 --- --- --- --- OAT 4942 broad.mit.edu 37 10 126091508 126091508 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr10:126091508C>A ENST00000368845.5 - 7 980 c.888G>T c.(886-888)ggG>ggT p.G296G OAT_ENST00000539214.1_Silent_p.G158G|OAT_ENST00000467675.1_5'UTR NM_000274.3 NP_000265.1 P04181 OAT_HUMAN ornithine aminotransferase 296 cellular amino acid biosynthetic process|visual perception mitochondrial matrix ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding endometrium(2)|large_intestine(1)|lung(2) 5 all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116) L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114) GGTATAAGCCCCCAGAAAGGG 0.408 7 159 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6423820 6423820 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:6423820C>A ENST00000389906.2 - 7 1339 c.1240G>T c.(1240-1242)Ggg>Tgg p.G414W APBB1_ENST00000530885.1_Missense_Mutation_p.G194W|APBB1_ENST00000608394.1_Missense_Mutation_p.G155W|APBB1_ENST00000311051.3_Missense_Mutation_p.G414W|APBB1_ENST00000608655.1_Missense_Mutation_p.G194W|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000608704.1_Missense_Mutation_p.G155W|APBB1_ENST00000609331.1_Missense_Mutation_p.G179W|APBB1_ENST00000609360.1_Missense_Mutation_p.G414W|APBB1_ENST00000299402.6_Missense_Mutation_p.G414W|APBB1_ENST00000608645.1_Missense_Mutation_p.G155W O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 414 PID 1. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CCCCAGCCCCCAGACATGGGG 0.582 6 109 --- --- --- --- PPFIBP2 8495 broad.mit.edu 37 11 7656792 7656792 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:7656792G>T ENST00000299492.4 + 14 1592 c.1204G>T c.(1204-1206)Ggg>Tgg p.G402W PPFIBP2_ENST00000528883.1_Missense_Mutation_p.G290W|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.G259W|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.G244W NM_003621.3 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 402 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GTGTATGGATGGGAACCAGCC 0.423 5 96 --- --- --- --- HIPK3 10114 broad.mit.edu 37 11 33374937 33374937 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:33374937C>A ENST00000303296.4 + 17 3776 c.3471C>A c.(3469-3471)ccC>ccA p.P1157P HIPK3_ENST00000525975.1_Silent_p.P1136P|HIPK3_ENST00000456517.1_Silent_p.P1136P|HIPK3_ENST00000379016.3_Silent_p.P1136P NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 1157 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 TCTCCCATCCCAGTGGCATAG 0.502 6 162 --- --- --- --- TMEM109 79073 broad.mit.edu 37 11 60688429 60688429 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:60688429C>A ENST00000227525.3 + 3 712 c.309C>A c.(307-309)gcC>gcA p.A103A TMEM109_ENST00000536171.1_Silent_p.A103A|RP11-881M11.4_ENST00000543907.1_RNA NM_024092.2 NP_076997.1 Q9BVC6 TM109_HUMAN transmembrane protein 109 103 integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 CTGGGATCGCCGCACAGCTGC 0.537 5 178 --- --- --- --- CHRM1 1128 broad.mit.edu 37 11 62677296 62677296 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:62677296C>A ENST00000306960.3 - 2 1818 c.1277G>T c.(1276-1278)cGg>cTg p.R426L AP000438.2_ENST00000543624.1_RNA NM_000738.2 NP_000729.2 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 426 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding large_intestine(5)|lung(3)|stomach(1) 9 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) AAAGGTGTCCCGGAAGGCTTT 0.627 5 203 --- --- --- --- ATG2A 23130 broad.mit.edu 37 11 64677317 64677317 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:64677317G>T ENST00000421419.2 - 14 2057 c.1943C>A c.(1942-1944)cCc>cAc p.P648H ATG2A_ENST00000377264.3_Missense_Mutation_p.P648H Q2TAZ0 ATG2A_HUMAN autophagy related 2A 648 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GTCGGCAATGGGGAAGCGCAG 0.701 5 74 --- --- --- --- ZFPL1 7542 broad.mit.edu 37 11 64853980 64853980 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:64853980C>A ENST00000294258.3 + 4 460 c.308C>A c.(307-309)cCc>cAc p.P103H NM_006782.3 NP_006773.2 O95159 ZFPL1_HUMAN zinc finger protein-like 1 103 regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 TGCAATGGCCCCATCTTCCCC 0.647 7 184 --- --- --- --- TCIRG1 10312 broad.mit.edu 37 11 67817721 67817721 + Splice_Site SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:67817721C>A ENST00000265686.3 + 18 2344 c.2236C>A c.(2236-2238)Cag>Aag p.Q746K TCIRG1_ENST00000532635.1_Splice_Site_p.Q530K NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 746 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 GGCCCACGCCCGTGAGTGACC 0.672 5 122 --- --- --- --- HEPHL1 341208 broad.mit.edu 37 11 93796817 93796817 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:93796817C>A ENST00000315765.9 + 3 567 c.559C>A c.(559-561)Cat>Aat p.H187N NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 187 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CTGGGTGTACCATTCGCACAT 0.542 21 112 --- --- --- --- PGR 5241 broad.mit.edu 37 11 100962584 100962584 + Nonsense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:100962584C>A ENST00000325455.5 - 3 3266 c.1813G>T c.(1813-1815)Gga>Tga p.G605* PGR_ENST00000263463.5_Nonsense_Mutation_p.G605*|PGR_ENST00000534013.1_Nonsense_Mutation_p.G11* NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor 605 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TCATTTCTTCCAGCACATAAG 0.393 4 26 --- --- --- --- MMP13 4322 broad.mit.edu 37 11 102820888 102820888 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:102820888G>T ENST00000260302.3 - 6 896 c.868C>A c.(868-870)Ctt>Att p.L290I MMP13_ENST00000340273.4_Missense_Mutation_p.L290I NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 290 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) ATGGCATCAAGGGATAAGGAA 0.433 7 226 --- --- --- --- SIK3 23387 broad.mit.edu 37 11 116733016 116733016 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:116733016C>A ENST00000375300.1 - 16 1992 c.1987G>T c.(1987-1989)Ggg>Tgg p.G663W SIK3_ENST00000292055.4_Missense_Mutation_p.G605W|SIK3_ENST00000375288.1_Silent_p.T36T|SIK3_ENST00000542607.1_Missense_Mutation_p.G605W|SIK3_ENST00000446921.2_Missense_Mutation_p.G663W|SIK3_ENST00000434315.2_Missense_Mutation_p.G504W|SIK3_ENST00000488337.1_5'UTR Q9Y2K2 SIK3_HUMAN SIK family kinase 3 605 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 ATCTGCCCCCCGTACATCTTC 0.493 6 198 --- --- --- --- RNF214 257160 broad.mit.edu 37 11 117109673 117109673 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:117109673C>A ENST00000531452.1 + 3 510 c.464C>A c.(463-465)cCa>cAa p.P155Q RNF214_ENST00000530849.1_Intron|RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.P155Q NM_001077239.1|NM_001278249.1 NP_001070707.1|NP_001265178.1 Q8ND24 RN214_HUMAN ring finger protein 214 155 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) GAGAAATCCCCACAAACCTCC 0.522 6 71 --- --- --- --- TECTA 7007 broad.mit.edu 37 11 120996467 120996467 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:120996467C>A ENST00000392793.1 + 8 1931 c.1660C>A c.(1660-1662)Ctg>Atg p.L554M TECTA_ENST00000264037.2_Missense_Mutation_p.L554M O75443 TECTA_HUMAN tectorin alpha 554 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CGTGTATGACCTGTGCAGTGT 0.577 6 144 --- --- --- --- C11orf63 79864 broad.mit.edu 37 11 122774677 122774677 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:122774677C>A ENST00000227349.2 + 3 686 c.389C>A c.(388-390)cCg>cAg p.P130Q C11orf63_ENST00000307257.6_Missense_Mutation_p.P130Q|C11orf63_ENST00000531316.1_Missense_Mutation_p.P130Q NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 130 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) CGCTATGACCCGAACTGGAAG 0.478 8 296 --- --- --- --- NCAPD3 23310 broad.mit.edu 37 11 134046279 134046279 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr11:134046279C>A ENST00000534548.2 - 24 3088 c.3024G>T c.(3022-3024)gaG>gaT p.E1008D NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1008 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TCACAAATTCCTCCTGTGCAG 0.547 5 82 --- --- --- --- ITFG2 55846 broad.mit.edu 37 12 2921985 2921985 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:2921985C>A ENST00000228799.2 + 1 198 c.59C>A c.(58-60)cCg>cAg p.P20Q ITFG2_ENST00000542548.1_5'UTR|RP4-816N1.6_ENST00000547834.1_RNA|ITFG2_ENST00000419778.2_5'UTR NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 20 central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) AGCCTCTTCCCGCACGCAATC 0.607 5 154 --- --- --- --- VWF 7450 broad.mit.edu 37 12 6103761 6103761 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:6103761C>A ENST00000261405.5 - 36 6330 c.6076G>T c.(6076-6078)Ggg>Tgg p.G2026W NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 2026 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) ACCAGTCTCCCATTCACCGTC 0.473 5 68 --- --- --- --- USP5 8078 broad.mit.edu 37 12 6961392 6961392 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:6961392C>A ENST00000229268.8 + 1 101 c.49C>A c.(49-51)Cgg>Agg p.R17R USP5_ENST00000389231.5_Silent_p.R17R NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 17 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 ACCGACGATCCGGGTCCCTAA 0.642 4 36 --- --- --- --- GPD1 2819 broad.mit.edu 37 12 50497833 50497833 + Translation_Start_Site SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:50497833C>A ENST00000301149.3 + 0 232 GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_De_novo_Start_InFrame NM_001257199.1|NM_005276.3 NP_001244128.1|NP_005267.2 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) GACGCGGCACCATGGCTAGCA 0.602 6 148 --- --- --- --- KRT72 140807 broad.mit.edu 37 12 52979802 52979802 + Silent SNP C C A rs149656096 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:52979802C>A ENST00000293745.2 - 9 1585 c.1500G>T c.(1498-1500)tcG>tcT p.S500S KRT72_ENST00000398066.3_Silent_p.S312S|KRT72_ENST00000537672.2_Silent_p.S500S|KRT72_ENST00000354310.4_Silent_p.S458S NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 500 Tail. keratin filament structural molecule activity p.S500S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) AGCTGCTCCCCGAGGTTTTGG 0.557 7 228 --- --- --- --- KRT72 140807 broad.mit.edu 37 12 52984711 52984711 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:52984711C>A ENST00000293745.2 - 6 1083 c.998G>T c.(997-999)gGg>gTg p.G333V KRT72_ENST00000398066.3_Missense_Mutation_p.G145V|KRT72_ENST00000537672.2_Missense_Mutation_p.G333V|KRT72_ENST00000354310.4_Intron NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 333 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) GAGGTCATCCCCATGCTGGCC 0.537 5 82 --- --- --- --- HOXC10 3226 broad.mit.edu 37 12 54379100 54379100 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:54379100C>A ENST00000303460.4 + 1 131 c.57C>A c.(55-57)ccC>ccA p.P19P HOXC-AS3_ENST00000514702.1_RNA NM_017409.3 NP_059105.2 Q9NYD6 HXC10_HUMAN homeobox C10 19 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(14)|pancreas(1) 20 TGGCTGCGCCCGGCGGAGGAG 0.597 5 159 --- --- --- --- ESYT1 23344 broad.mit.edu 37 12 56536108 56536108 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:56536108C>A ENST00000394048.5 + 25 2896 c.2632C>A c.(2632-2634)Ctg>Atg p.L878M ESYT1_ENST00000267113.4_Missense_Mutation_p.L888M|ESYT1_ENST00000541590.1_Missense_Mutation_p.L888M|ESYT1_ENST00000550878.1_Intron NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 878 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 CTCATTATCCCTGCCCCTCTC 0.577 7 189 --- --- --- --- MBD6 114785 broad.mit.edu 37 12 57919487 57919487 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:57919487C>A ENST00000355673.3 + 6 1092 c.736C>A c.(736-738)Ccg>Acg p.P246T MBD6_ENST00000431731.2_Missense_Mutation_p.P246T NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 246 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 GGGCTCTCCTCCGGCCCCTCA 0.617 8 290 --- --- --- --- MON2 23041 broad.mit.edu 37 12 62931436 62931436 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:62931436C>A ENST00000393630.3 + 16 2459 c.2068C>A c.(2068-2070)Cat>Aat p.H690N MON2_ENST00000552115.1_Missense_Mutation_p.H690N|MON2_ENST00000280379.6_Missense_Mutation_p.H690N|MON2_ENST00000546600.1_Missense_Mutation_p.H690N|MON2_ENST00000393632.2_Missense_Mutation_p.H690N|MON2_ENST00000393629.2_Missense_Mutation_p.H690N|MON2_ENST00000552738.1_Missense_Mutation_p.H667N NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 690 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) GGCGCATTGCCATGGGGCTGT 0.338 5 116 --- --- --- --- SRGAP1 57522 broad.mit.edu 37 12 64485104 64485104 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:64485104C>A ENST00000355086.3 + 12 2009 c.1485C>A c.(1483-1485)ccC>ccA p.P495P SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron|RP11-196H14.2_ENST00000535594.1_RNA NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 495 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) AGTCCAGGCCCCGCTCACAGT 0.458 5 72 --- --- --- --- PLXNC1 10154 broad.mit.edu 37 12 94641723 94641723 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:94641723C>A ENST00000258526.4 + 13 2682 c.2433C>A c.(2431-2433)ccC>ccA p.P811P NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 811 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding p.P811P(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TTTTAGCCCCCAGTTTAAAGA 0.448 6 185 --- --- --- --- IKBIP 121457 broad.mit.edu 37 12 99007500 99007500 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:99007500C>A ENST00000342502.2 - 3 1327 c.916G>T c.(916-918)Ggg>Tgg p.G306W IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.G200W NM_201612.2 NP_963906.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 306 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 ACCAATCTCCCAATGCGTAGT 0.323 6 88 --- --- --- --- NUP37 79023 broad.mit.edu 37 12 102471269 102471269 + Nonsense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:102471269C>A ENST00000552283.1 - 7 692 c.553G>T c.(553-555)Gag>Tag p.E185* NUP37_ENST00000251074.1_Nonsense_Mutation_p.E185* Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 185 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 CCATTCTTCTCTGCAACCATT 0.378 5 89 --- --- --- --- ANKRD13A 88455 broad.mit.edu 37 12 110465570 110465570 + Splice_Site SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:110465570G>T ENST00000261739.4 + 9 1110 c.944G>T c.(943-945)gGg>gTg p.G315V NM_033121.1 NP_149112.1 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13A 315 endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1) 16 GGTGCACAAGGGGTAAGTTGA 0.443 6 96 --- --- --- --- CIT 11113 broad.mit.edu 37 12 120166400 120166400 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:120166400C>A ENST00000392521.2 - 28 3553 c.3498G>T c.(3496-3498)ctG>ctT p.L1166L CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L1124L NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1124 Interaction with Rho/Rac. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GCTTCTTCTCCAGGTCATTGA 0.458 6 240 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134244 121134244 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr12:121134244C>A ENST00000228506.3 + 5 1203 c.775C>A c.(775-777)Cgc>Agc p.R259S MLEC_ENST00000412616.2_Silent_p.P180P|MLEC_ENST00000535413.1_3'UTR NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 259 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 GTCAGGCCCCCGCACACCCAA 0.512 7 207 --- --- --- --- MAB21L1 4081 broad.mit.edu 37 13 36049311 36049311 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr13:36049311G>T ENST00000379919.4 - 1 1521 c.965C>A c.(964-966)cCg>cAg p.P322Q NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 322 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) ATCTAAGTTCGGTAGAAAGTA 0.537 6 173 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46544601 46544601 + Splice_Site SNP C C A rs111945370 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr13:46544601C>A ENST00000242848.4 - 13 2817 c.e13-1 ZC3H13_ENST00000282007.3_Splice_Site Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ATAGCGCTTCCTAAATTGGAC 0.408 6 146 --- --- --- --- RNF113B 140432 broad.mit.edu 37 13 98829414 98829414 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr13:98829414C>A ENST00000267291.6 - 1 105 c.77G>T c.(76-78)gGa>gTa p.G26V FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 26 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CCCTTTCCGTCCAGGCTTTTT 0.647 5 49 --- --- --- --- CHAMP1 283489 broad.mit.edu 37 13 115089998 115089998 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr13:115089998C>A ENST00000361283.1 + 3 990 c.681C>A c.(679-681)ccC>ccA p.P227P NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 227 Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ATCCCAAACCCCAGAAGCAGT 0.527 7 201 --- --- --- --- TRAV12-2 28673 broad.mit.edu 37 14 22356675 22356675 + RNA SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr14:22356675C>A ENST00000390437.2 + 0 438 ACCTCTGTGCCGTGAACACAC 0.522 5 201 --- --- --- --- PABPN1 8106 broad.mit.edu 37 14 23793354 23793354 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr14:23793354C>A ENST00000397276.2 + 6 750 c.737C>A c.(736-738)cCa>cAa p.P246Q PABPN1_ENST00000216727.4_Missense_Mutation_p.P246Q|PABPN1_ENST00000557702.1_Missense_Mutation_p.P118Q|PABPN1_ENST00000556821.1_Missense_Mutation_p.P118Q|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.P273Q|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.P273Q poly(A) binding protein, nuclear 1 large_intestine(1)|lung(1)|ovary(2) 4 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) CAGGTGATCCCAAAACGAACC 0.507 5 81 --- --- --- --- MYH6 4624 broad.mit.edu 37 14 23855798 23855798 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr14:23855798C>A ENST00000405093.3 - 33 4755 c.4685G>T c.(4684-4686)cGg>cTg p.R1562L MYH6_ENST00000356287.3_Missense_Mutation_p.R1562L NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1562 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TAGCTGGGCCCGGAGGATCTT 0.642 5 214 --- --- --- --- RIPK3 11035 broad.mit.edu 37 14 24808680 24808680 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr14:24808680C>A ENST00000216274.5 - 2 362 c.144G>T c.(142-144)gcG>gcT p.A48A RIPK3_ENST00000554338.1_5'UTR NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 48 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) CGATCTTGACCGCCACATCGT 0.602 5 204 --- --- --- --- NFATC4 4776 broad.mit.edu 37 14 24845950 24845950 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr14:24845950C>A ENST00000413692.2 + 10 2840 c.2696C>A c.(2695-2697)cCt>cAt p.P899H NFATC4_ENST00000556279.1_Missense_Mutation_p.P868H|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554344.1_Missense_Mutation_p.P766H|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.P124H|NFATC4_ENST00000250373.4_Missense_Mutation_p.P836H|NFATC4_ENST00000553708.1_Missense_Mutation_p.P836H|NFATC4_ENST00000555590.1_Missense_Mutation_p.P849H|NFATC4_ENST00000553879.1_Missense_Mutation_p.P766H|NFATC4_ENST00000555167.1_Missense_Mutation_p.P371H|NFATC4_ENST00000555453.1_Missense_Mutation_p.P824H|NFATC4_ENST00000557451.1_Missense_Mutation_p.P766H|NFATC4_ENST00000424781.2_Missense_Mutation_p.P849H|NFATC4_ENST00000422617.3_Missense_Mutation_p.P824H|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.P371H|NFATC4_ENST00000539237.2_Missense_Mutation_p.P868H|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.P124H|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554661.1_Intron NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 836 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CATCCCCTACCTGCTGAGGGA 0.637 6 136 --- --- --- --- DCAF5 8816 broad.mit.edu 37 14 69542088 69542088 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr14:69542088C>A ENST00000341516.5 - 7 1067 c.920G>T c.(919-921)tGg>tTg p.W307L DCAF5_ENST00000554215.1_Missense_Mutation_p.W225L|DCAF5_ENST00000556847.1_Missense_Mutation_p.W225L|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.W306L NM_001284206.1|NM_001284207.1|NM_003861.2 NP_001271135.1|NP_001271136.1|NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 307 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 AGGAATTCTCCACATGTACAG 0.383 7 294 --- --- --- --- DYNC1H1 1778 broad.mit.edu 37 14 102452969 102452969 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr14:102452969C>A ENST00000360184.4 + 8 2571 c.2407C>A c.(2407-2409)Ctt>Att p.L803I NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 803 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CACCATTTCCCTTTTGGTGGC 0.522 6 145 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28375705 28375705 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:28375705C>A ENST00000261609.7 - 82 12714 c.12606G>T c.(12604-12606)gtG>gtT p.V4202V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4202 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATCCGCATTCCACTTTAACTA 0.423 6 229 --- --- --- --- FRMD5 84978 broad.mit.edu 37 15 44211981 44211981 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:44211981C>A ENST00000417257.1 - 3 410 c.234G>T c.(232-234)gtG>gtT p.V78V FRMD5_ENST00000402883.1_Silent_p.V78V|FRMD5_ENST00000484674.1_5'UTR NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 78 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) ATTGTTTCACCACAGACTTTG 0.408 5 77 --- --- --- --- SHF 90525 broad.mit.edu 37 15 45467512 45467512 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:45467512C>A ENST00000290894.8 - 4 1051 c.557G>T c.(556-558)cGg>cTg p.R186L RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560540.1_Missense_Mutation_p.R251L|SHF_ENST00000560471.1_Missense_Mutation_p.R251L|SHF_ENST00000318390.6_Missense_Mutation_p.R243L|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_Missense_Mutation_p.R49L|SHF_ENST00000560734.1_Missense_Mutation_p.R251L NM_138356.2 NP_612365 B3KTY1 B3KTY1_HUMAN Src homology 2 domain containing F 186 endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2) 12 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) GCGGGACTCCCGGGGCCAGGG 0.627 3 15 --- --- --- --- GNB5 10681 broad.mit.edu 37 15 52433337 52433337 + Splice_Site SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:52433337C>A ENST00000261837.7 - 7 692 c.627G>T c.(625-627)caG>caT p.Q209H GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Splice_Site_p.Q167H NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 209 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) GCCTATTTACCTGCATGTCAG 0.507 6 87 --- --- --- --- ISLR 3671 broad.mit.edu 37 15 74468100 74468100 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:74468100C>A ENST00000249842.3 + 2 1258 c.901C>A c.(901-903)Cag>Aag p.Q301K ISLR_ENST00000395118.1_Missense_Mutation_p.Q301K|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 301 Ig-like. cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GGCCAGCTCCCAGCCGCGCTT 0.632 7 122 --- --- --- --- UBL7 84993 broad.mit.edu 37 15 74740896 74740896 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:74740896C>A ENST00000567435.1 - 10 1391 c.928G>T c.(928-930)Ggg>Tgg p.G310W UBL7_ENST00000361351.4_Missense_Mutation_p.G310W|UBL7_ENST00000565335.1_Missense_Mutation_p.G310W|UBL7_ENST00000395081.2_Missense_Mutation_p.G310W|UBL7_ENST00000564488.1_Missense_Mutation_p.G310W Q96S82 UBL7_HUMAN ubiquitin-like 7 (bone marrow stromal cell-derived) 310 protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 ATGGGCGTCCCTGACTGGACA 0.557 8 290 --- --- --- --- LINGO1 84894 broad.mit.edu 37 15 77906909 77906909 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:77906909C>A ENST00000355300.6 - 2 1514 c.1340G>T c.(1339-1341)cGg>cTg p.R447L LINGO1_ENST00000561030.1_Missense_Mutation_p.R441L NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 447 Ig-like C2-type. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GCCATCGGCCCGGCACACAAA 0.667 3 16 --- --- --- --- CHRNA3 1136 broad.mit.edu 37 15 78893932 78893932 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:78893932G>T ENST00000326828.5 - 5 1436 c.1052C>A c.(1051-1053)cCc>cAc p.P351H CHRNA3_ENST00000348639.3_Missense_Mutation_p.P351H NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 351 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CATGACCCTGGGGAGCAGGTT 0.552 8 100 --- --- --- --- ARNT2 9915 broad.mit.edu 37 15 80883998 80883998 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:80883998G>T ENST00000533983.1 + 19 2314 c.1975G>T c.(1975-1977)Ggt>Tgt p.G659C ARNT2_ENST00000527771.1_Missense_Mutation_p.G659C|ARNT2_ENST00000303329.4_Missense_Mutation_p.G670C Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 670 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) CCAGCAGAGCGGTGAGCAGCA 0.597 4 116 --- --- --- --- AGBL1 123624 broad.mit.edu 37 15 87531319 87531319 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:87531319C>A ENST00000421325.2 + 22 3185 c.3185C>A c.(3184-3186)cCg>cAg p.P1062Q RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000441037.2_Splice_Site_p.P1062Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.P793Q Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 1062 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 catgtctccccgtgagtatgt 0.413 7 180 --- --- --- --- FES 2242 broad.mit.edu 37 15 91437271 91437271 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:91437271G>T ENST00000328850.3 + 18 2451 c.2309G>T c.(2308-2310)cGg>cTg p.R770L FES_ENST00000414248.2_Missense_Mutation_p.R642L|FES_ENST00000394302.1_Missense_Mutation_p.R629L|FES_ENST00000394300.3_Missense_Mutation_p.R712L|FES_ENST00000444422.2_Missense_Mutation_p.R700L|FES_ENST00000450438.2_Missense_Mutation_p.R642L NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 770 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CAGCAGACACGGGAGTTTGTG 0.577 7 319 --- --- --- --- HDDC3 374659 broad.mit.edu 37 15 91475004 91475004 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:91475004G>T ENST00000330334.3 - 3 344 c.339C>A c.(337-339)ccC>ccA p.P113P HDDC3_ENST00000559898.1_Silent_p.P113P|HDDC3_ENST00000394272.3_Silent_p.P113P|UNC45A_ENST00000394275.2_Intron NM_198527.2 NP_940929.1 Q8N4P3 MESH1_HUMAN HD domain containing 3 113 HD. guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity NS(1)|ovary(1) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GTTTGGCCCCGGGGCTACTGT 0.582 OREG0023475 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 183 --- --- --- --- PRC1 9055 broad.mit.edu 37 15 91524744 91524744 + Silent SNP T T C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr15:91524744T>C ENST00000361188.5 - 5 1868 c.657A>G c.(655-657)caA>caG p.Q219Q PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q|PRC1_ENST00000361919.3_Silent_p.Q219Q O43663 PRC1_HUMAN protein regulator of cytokinesis 1 219 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) GTAGCAACTTTTGTAGTGTTG 0.408 4 57 --- --- --- --- ITFG3 83986 broad.mit.edu 37 16 314923 314923 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:314923C>A ENST00000399932.3 + 13 2012 c.1561C>A c.(1561-1563)Cca>Aca p.P521T ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301678.3_Missense_Mutation_p.P521T|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301679.2_Intron NM_001284497.1 NP_001271426.1 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 521 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) GGACCTTGTCCCAAGCAGCAG 0.657 5 62 --- --- --- --- GLYR1 84656 broad.mit.edu 37 16 4882096 4882096 + Nonsense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:4882096C>A ENST00000321919.9 - 5 497 c.421G>T c.(421-423)Gga>Tga p.G141* GLYR1_ENST00000591451.1_Nonsense_Mutation_p.G141*|GLYR1_ENST00000381983.3_Nonsense_Mutation_p.G141*|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Intron NM_032569.3 NP_115958 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 141 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 TTTCCTTCTCCCATGTTCTTC 0.522 6 163 --- --- --- --- ERCC4 2072 broad.mit.edu 37 16 14028088 14028088 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:14028088G>T ENST00000311895.7 + 7 1151 c.1142G>T c.(1141-1143)tGg>tTg p.W381L CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 381 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 AACCCAAAGTGGGAGGCACTG 0.363 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 6 159 --- --- --- --- C16orf93 90835 broad.mit.edu 37 16 30771664 30771664 + Nonsense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:30771664G>T ENST00000543610.1 - 4 1371 c.410C>A c.(409-411)tCa>tAa p.S137* PHKG2_ENST00000424889.3_3'UTR|C16orf93_ENST00000545825.1_Nonsense_Mutation_p.S137*|PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Nonsense_Mutation_p.S137* NM_001014979.2 NP_001014979.2 A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 137 breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 CTGCTCCAGTGAGAAGCCCTG 0.612 5 83 --- --- --- --- BCKDK 10295 broad.mit.edu 37 16 31122021 31122021 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:31122021G>T ENST00000394951.1 + 9 1278 c.655G>T c.(655-657)Ggc>Tgc p.G219C BCKDK_ENST00000287507.3_Missense_Mutation_p.G219C|BCKDK_ENST00000219794.6_Missense_Mutation_p.G219C|BCKDK_ENST00000394950.3_Missense_Mutation_p.G219C O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 219 Histidine kinase. branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 TGACTTTGTCGGCATCATCTG 0.572 7 210 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31422456 31422456 + Silent SNP C C A rs138291839 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:31422456C>A ENST00000389202.2 + 13 1465 c.1416C>A c.(1414-1416)acC>acA p.T472T NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 472 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 ATGGCAGCACCGACCTGATCC 0.647 5 109 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31427854 31427854 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:31427854C>A ENST00000389202.2 + 20 2435 c.2386C>A c.(2386-2388)Ctg>Atg p.L796M NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 796 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGGGAGCTCCCTGGAGCTCAA 0.617 6 133 --- --- --- --- IRX5 10265 broad.mit.edu 37 16 54966433 54966433 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:54966433C>A ENST00000394636.4 + 2 610 c.273C>A c.(271-273)ccC>ccA p.P91P IRX5_ENST00000320990.5_Silent_p.P91P|IRX5_ENST00000558597.1_Silent_p.P25P|IRX5_ENST00000560154.1_Intron P78411 IRX5_HUMAN iroquois homeobox 5 91 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 ACCACACACCCGGCATGGCGG 0.652 5 100 --- --- --- --- AMFR 267 broad.mit.edu 37 16 56423200 56423200 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:56423200C>A ENST00000290649.5 - 9 1383 c.1173G>T c.(1171-1173)agG>agT p.R391S NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 391 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 GATGTTCTTCCCTGACACGAT 0.458 6 105 --- --- --- --- CDH1 999 broad.mit.edu 37 16 68849503 68849503 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:68849503C>A ENST00000261769.5 + 10 1597 c.1406C>A c.(1405-1407)tCc>tAc p.S469Y RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.S408Y|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 469 Cadherin 3. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CTCACCACCTCCACAGCCACC 0.532 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 6 140 --- --- --- --- WDR59 79726 broad.mit.edu 37 16 74919621 74919621 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr16:74919621C>A ENST00000262144.6 - 25 2749 c.2619G>T c.(2617-2619)tgG>tgT p.W873C NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 873 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CTCTCAGACCCCAACGGTAGA 0.463 6 84 --- --- --- --- OVCA2 124641 broad.mit.edu 37 17 1946353 1946353 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:1946353C>A ENST00000572195.1 + 2 654 c.639C>A c.(637-639)ccC>ccA p.P213P RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR NM_080822.2 NP_543012.1 Q8WZ82 OVCA2_HUMAN ovarian tumor suppressor candidate 2 213 response to retinoic acid cytoplasm hydrolase activity CAGCTGCACCCCAGCGTCAGG 0.562 OREG0024078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 115 --- --- --- --- GP1BA 2811 broad.mit.edu 37 17 4837468 4837468 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:4837468C>A ENST00000329125.5 + 2 1644 c.1569C>A c.(1567-1569)ccC>ccA p.P523P NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 523 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 TTCTCCACCCCGACTTTTGCT 0.562 6 120 --- --- --- --- DHX33 56919 broad.mit.edu 37 17 5366889 5366889 + Missense_Mutation SNP G G C TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:5366889G>C ENST00000225296.3 - 2 610 c.410C>G c.(409-411)aCt>aGt p.T137S DHX33_ENST00000433302.3_Intron NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 137 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TGAGACTCTAGTAGCAAGAGA 0.512 3 157 --- --- --- --- SHBG 6462 broad.mit.edu 37 17 7535319 7535319 + Missense_Mutation SNP C C A rs140325118 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:7535319C>A ENST00000380450.4 + 6 869 c.838C>A c.(838-840)Cac>Aac p.H280N SHBG_ENST00000340624.5_Missense_Mutation_p.H222N|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000416273.3_Missense_Mutation_p.H280N|SHBG_ENST00000576728.1_Missense_Mutation_p.H168N|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000574539.1_Missense_Mutation_p.H222N|SHBG_ENST00000575314.1_Missense_Mutation_p.H222N|SHBG_ENST00000572262.1_Missense_Mutation_p.H168N|SHBG_ENST00000575903.1_Missense_Mutation_p.H262N NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 280 Laminin G-like 2. hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) GCTCAGTCTCCACCTCCAAGA 0.562 7 205 --- --- --- --- DNAH2 146754 broad.mit.edu 37 17 7727981 7727981 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:7727981C>A ENST00000572933.1 + 77 13249 c.11789C>A c.(11788-11790)cCc>cAc p.P3930H DNAH2_ENST00000389173.2_Missense_Mutation_p.P3930H Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3930 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGCTCCATCCCCCACCCAGAC 0.552 7 132 --- --- --- --- RAB11FIP4 84440 broad.mit.edu 37 17 29849385 29849385 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:29849385C>A ENST00000325874.8 + 7 1130 c.901C>A c.(901-903)Cga>Aga p.R301R RAB11FIP4_ENST00000394744.2_Silent_p.R199R NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 301 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) TAGCCCCAACCGAAAGATCTC 0.577 5 117 --- --- --- --- C17orf66 256957 broad.mit.edu 37 17 34185976 34185976 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:34185976C>A ENST00000311880.2 - 9 1003 c.855G>T c.(853-855)ctG>ctT p.L285L C17orf66_ENST00000592980.1_Silent_p.L245L NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 285 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TCAGGAAACCCAGGCACAGGG 0.567 5 80 --- --- --- --- MRPL45 84311 broad.mit.edu 37 17 36476512 36476512 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:36476512G>T ENST00000312513.5 + 6 682 c.521G>T c.(520-522)tGg>tTg p.W174L NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 174 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GACATGACTTGGGACATCAAA 0.473 7 242 --- --- --- --- PIP4K2B 8396 broad.mit.edu 37 17 36935636 36935636 + Splice_Site SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:36935636C>A ENST00000269554.3 - 5 1134 c.654G>T c.(652-654)aaG>aaT p.K218N PIP4K2B_ENST00000311500.6_5'UTR NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 218 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 AGCCCTTTACCTTGAGGTCAT 0.552 6 156 --- --- --- --- STAC2 342667 broad.mit.edu 37 17 37371269 37371269 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:37371269C>A ENST00000333461.5 - 6 1076 c.707G>T c.(706-708)cGg>cTg p.R236L NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 236 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CAGCTCATCCCGCTCACTCTA 0.627 5 178 --- --- --- --- FBXL20 84961 broad.mit.edu 37 17 37439105 37439105 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:37439105C>A ENST00000264658.6 - 8 758 c.498G>T c.(496-498)gaG>gaT p.E166D FBXL20_ENST00000583610.1_Missense_Mutation_p.E166D|FBXL20_ENST00000577399.1_Missense_Mutation_p.E168D|FBXL20_ENST00000394294.3_Missense_Mutation_p.E134D NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 166 cytoplasm breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) GTGGACATCCCTCACTTAGGA 0.418 6 124 --- --- --- --- CNTNAP1 8506 broad.mit.edu 37 17 40843415 40843415 + Nonsense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:40843415G>T ENST00000264638.4 + 15 2447 c.2230G>T c.(2230-2232)Gga>Tga p.G744* CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 744 Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) AACTGACAAGGGACTGCTGAC 0.592 5 47 --- --- --- --- HOXB1 3211 broad.mit.edu 37 17 46608050 46608050 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:46608050C>A ENST00000239174.6 - 1 309 c.217G>T c.(217-219)Ggg>Tgg p.G73W HOXB1_ENST00000577092.1_Missense_Mutation_p.G73W NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 73 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity p.G73W(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AAGGGCACCCCCAGGGTCGAA 0.672 5 74 --- --- --- --- SMG8 55181 broad.mit.edu 37 17 57290243 57290243 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:57290243C>A ENST00000543872.2 + 4 2323 c.2059C>A c.(2059-2061)Caa>Aaa p.Q687K SMG8_ENST00000300917.5_Missense_Mutation_p.Q687K|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 687 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding p.Q687K(1) NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 ACCTCAAACCCAAGGAGAGAG 0.463 6 192 --- --- --- --- KCNH6 81033 broad.mit.edu 37 17 61611529 61611529 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:61611529C>A ENST00000583023.1 + 5 969 c.958C>A c.(958-960)Cgc>Agc p.R320S KCNH6_ENST00000314672.5_Missense_Mutation_p.R320S|KCNH6_ENST00000581784.1_Missense_Mutation_p.R320S|KCNH6_ENST00000580652.1_Missense_Mutation_p.R320S|KCNH6_ENST00000456941.2_Missense_Mutation_p.R320S NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 320 regulation of transcription, DNA-dependent|signal transduction p.R320C(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CATCAACTTCCGCACCACCTA 0.582 5 191 --- --- --- --- POLG2 11232 broad.mit.edu 37 17 62492985 62492985 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:62492985C>A ENST00000539111.2 - 1 169 c.102G>T c.(100-102)acG>acT p.T34T NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 34 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) TACTCCTTTCCGTCAACAGCT 0.647 5 107 --- --- --- --- CACNG4 27092 broad.mit.edu 37 17 65021031 65021031 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:65021031G>T ENST00000262138.3 + 3 362 c.360G>T c.(358-360)ctG>ctT p.L120L NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 120 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) TGCTCCTGCTGGGTGGCCTGT 0.652 7 155 --- --- --- --- HELZ 9931 broad.mit.edu 37 17 65134173 65134173 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:65134173C>A ENST00000358691.5 - 22 2993 c.2827G>T c.(2827-2829)Ggg>Tgg p.G943W HELZ_ENST00000580168.1_Missense_Mutation_p.G944W NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TCTAACTTCCCCCACGCTACT 0.388 6 111 --- --- --- --- GRB2 2885 broad.mit.edu 37 17 73316460 73316460 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:73316460G>T ENST00000392562.1 - 6 1425 c.643C>A c.(643-645)Cgg>Agg p.R215R GRB2_ENST00000578961.1_3'UTR|GRB2_ENST00000316804.5_Silent_p.R215R|GRB2_ENST00000392563.1_Silent_p.R174R|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316615.5_Silent_p.R174R|GRB2_ENST00000392564.1_Silent_p.R215R P62993 GRB2_HUMAN growth factor receptor-bound protein 2 215 SH3 2. axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 17 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) TAGACGTTCCGGTTCACGGGG 0.453 6 356 --- --- --- --- KIAA0195 9772 broad.mit.edu 37 17 73491708 73491708 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:73491708C>A ENST00000314256.7 + 22 3322 c.2928C>A c.(2926-2928)acC>acA p.T976T KIAA0195_ENST00000579208.1_Silent_p.T627T|KIAA0195_ENST00000375248.5_Silent_p.T986T NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 976 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCTTTTCACCGACTGCACCC 0.637 7 228 --- --- --- --- UNK 85451 broad.mit.edu 37 17 73811288 73811288 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:73811288G>T ENST00000293218.3 + 8 1143 c.1143G>T c.(1141-1143)tcG>tcT p.S381S UNK_ENST00000589666.1_Silent_p.S305S Q9C0B0 UNK_HUMAN unkempt family zinc finger 305 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCAGCAGTCGGGCAGCTGTC 0.652 6 179 --- --- --- --- UBE2O 63893 broad.mit.edu 37 17 74392583 74392583 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:74392583C>A ENST00000319380.7 - 14 2499 c.2435G>T c.(2434-2436)cGg>cTg p.R812L NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 812 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 TTTCAACTCCCGGAAGCTCTT 0.647 9 312 --- --- --- --- UBE2O 63893 broad.mit.edu 37 17 74392836 74392836 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:74392836C>A ENST00000319380.7 - 14 2246 c.2182G>T c.(2182-2184)Ggg>Tgg p.G728W NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 728 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 GAGGATGCCCCGCTGGTGCTG 0.567 5 152 --- --- --- --- TBC1D16 125058 broad.mit.edu 37 17 77923570 77923570 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr17:77923570C>A ENST00000310924.2 - 7 1467 c.1352G>T c.(1351-1353)cGg>cTg p.R451L TBC1D16_ENST00000572862.1_Missense_Mutation_p.R89L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.R76L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.R89L|TBC1D16_ENST00000570373.1_Missense_Mutation_p.R90L NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 451 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CAGCGCCTCCCGCTCCTCCGA 0.642 5 178 --- --- --- --- YES1 7525 broad.mit.edu 37 18 748004 748004 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr18:748004C>A ENST00000584307.1 - 4 556 c.386G>T c.(385-387)tGg>tTg p.W129L YES1_ENST00000577961.1_Missense_Mutation_p.W134L|YES1_ENST00000314574.4_Missense_Mutation_p.W129L P07947 YES_HUMAN v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 129 SH3. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Dasatinib(DB01254) TCTTGCTTCCCACCAATCTCC 0.433 7 198 --- --- --- --- MYOM1 8736 broad.mit.edu 37 18 3129369 3129369 + Silent SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr18:3129369G>T ENST00000400569.3 - 18 2988 c.2655C>A c.(2653-2655)ccC>ccA p.P885P MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000356443.4_Silent_p.P885P P52179 MYOM1_HUMAN myomesin 1 885 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GAGAGCTACTGGGTAGTGAAG 0.542 OREG0024838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 252 --- --- --- --- MYO5B 4645 broad.mit.edu 37 18 47516881 47516881 + Nonsense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr18:47516881C>A ENST00000285039.7 - 7 1065 c.766G>T c.(766-768)Gag>Tag p.E256* NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 256 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TAATTCCTCTCATCATCTGCC 0.502 4 51 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56184193 56184193 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr18:56184193C>A ENST00000361673.3 - 9 6100 c.5887G>T c.(5887-5889)Ggg>Tgg p.G1963W NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1963 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTTCTGGTCCCATAGGCAATG 0.537 6 188 --- --- --- --- RTTN 25914 broad.mit.edu 37 18 67836099 67836099 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr18:67836099C>A ENST00000255674.6 - 12 1967 c.1681G>T c.(1681-1683)Ggg>Tgg p.G561W RTTN_ENST00000454359.1_Missense_Mutation_p.G561W|RTTN_ENST00000437017.1_Missense_Mutation_p.G561W NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 561 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) ACCTCTTTCCCAATATCAGAC 0.294 6 117 --- --- --- --- DOT1L 84444 broad.mit.edu 37 19 2210676 2210676 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:2210676C>A ENST00000398665.3 + 14 1209 c.1173C>A c.(1171-1173)ccC>ccA p.P391P NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 391 Required for interaction with nucleosomes and DNA. nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCCGTCTCCCTCCAAAGCCC 0.612 8 156 --- --- --- --- PIAS4 51588 broad.mit.edu 37 19 4013131 4013131 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:4013131C>A ENST00000262971.2 + 2 353 c.238C>A c.(238-240)Ccc>Acc p.P80T NM_015897.2 NP_056981.2 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 80 positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGCACCGGCCCCTGGACCC 0.637 4 85 --- --- --- --- MPND 84954 broad.mit.edu 37 19 4355118 4355118 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:4355118C>A ENST00000599840.1 + 8 979 c.944C>A c.(943-945)cCt>cAt p.P315H MPND_ENST00000262966.8_Missense_Mutation_p.P315H|MPND_ENST00000359935.4_Intron Q8N594 MPND_HUMAN MPN domain containing 315 MPN. peptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGCCTTCCCTTGTCGGAGC 0.677 5 44 --- --- --- --- INSR 3643 broad.mit.edu 37 19 7267518 7267518 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:7267518G>T ENST00000341500.5 - 2 529 c.490C>A c.(490-492)Ctg>Atg p.L164M INSR_ENST00000302850.5_Missense_Mutation_p.L164M NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 164 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACGGAATCCAGGATACGGGAC 0.527 5 74 --- --- --- --- CYP4F11 57834 broad.mit.edu 37 19 16040400 16040400 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:16040400C>A ENST00000402119.4 - 2 636 c.210G>T c.(208-210)acG>acT p.T70T CYP4F11_ENST00000326742.8_Silent_p.T70T|CYP4F11_ENST00000248041.8_Silent_p.T70T NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGCCCTCTTCCGTGGGAGTGA 0.517 8 128 --- --- --- --- UPF1 5976 broad.mit.edu 37 19 18974273 18974273 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:18974273C>A ENST00000262803.5 + 19 2899 c.2627C>A c.(2626-2628)cCg>cAg p.P876Q UPF1_ENST00000599848.1_Missense_Mutation_p.P887Q NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 887 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding p.P876Q(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 GTGGGCAACCCGAAGGCACTA 0.597 6 309 --- --- --- --- UPF1 5976 broad.mit.edu 37 19 18976570 18976570 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:18976570C>A ENST00000262803.5 + 22 3492 c.3220C>A c.(3220-3222)Cag>Aag p.Q1074K UPF1_ENST00000599848.1_Missense_Mutation_p.Q1085K NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 1085 Gln/Ser-rich. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CGGCCTCTCCCAGCCGGAGCT 0.647 5 93 --- --- --- --- ARHGAP33 115703 broad.mit.edu 37 19 36278578 36278578 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:36278578C>A ENST00000007510.4 + 21 3255 c.3111C>A c.(3109-3111)ccC>ccA p.P1037P ARHGAP33_ENST00000378944.5_Silent_p.P873P|ARHGAP33_ENST00000314737.5_Silent_p.P876P O14559 RHG33_HUMAN Rho GTPase activating protein 33 1037 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CCCCAGCCCCCAGGGAGTGCC 0.697 6 64 --- --- --- --- LRFN3 79414 broad.mit.edu 37 19 36430931 36430931 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:36430931C>A ENST00000588831.1 + 3 1658 c.604C>A c.(604-606)Cgc>Agc p.R202S LRFN3_ENST00000246529.3_Missense_Mutation_p.R202S Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 202 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) CGCTTTTTCCCGCCTGCACAA 0.697 6 208 --- --- --- --- TBCB 1155 broad.mit.edu 37 19 36616652 36616652 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:36616652C>A ENST00000221855.3 + 6 1278 c.703C>A c.(703-705)Ccg>Acg p.P235T TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Missense_Mutation_p.P184T NM_001281.2 NP_001272.2 Q99426 TBCB_HUMAN tubulin folding cofactor B 235 'de novo' posttranslational protein folding|cell differentiation|nervous system development cytoplasm|microtubule protein binding large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGGGGACTTCCCGGAGGAGGA 0.572 7 227 --- --- --- --- PLEKHG2 64857 broad.mit.edu 37 19 39907506 39907506 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:39907506C>A ENST00000425673.1 + 7 935 c.610C>A c.(610-612)Cgg>Agg p.R204R PLEKHG2_ENST00000409797.2_Silent_p.R204R|PLEKHG2_ENST00000458508.2_Silent_p.R145R|PLEKHG2_ENST00000378550.1_Silent_p.R204R|PLEKHG2_ENST00000409794.3_Silent_p.R204R Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 204 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGCCCTGCTCCGGGAGCTGTC 0.667 5 172 --- --- --- --- FBL 2091 broad.mit.edu 37 19 40331076 40331076 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:40331076C>A ENST00000221801.3 - 3 374 c.261G>T c.(259-261)atG>atT p.M87I NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 87 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) GCGGCTCCACCATCACATTCT 0.612 7 264 --- --- --- --- ITPKC 80271 broad.mit.edu 37 19 41231253 41231253 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:41231253C>A ENST00000263370.2 + 2 1197 c.1164C>A c.(1162-1164)ccC>ccA p.P388P NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 388 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGAGCAAACCCTGGAAGAAGC 0.567 7 187 --- --- --- --- IRGQ 126298 broad.mit.edu 37 19 44097036 44097036 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:44097036C>A ENST00000422989.1 - 3 1169 c.1014G>T c.(1012-1014)ccG>ccT p.P338P IRGQ_ENST00000602269.1_Silent_p.P338P|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.P51P NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 338 protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) CCAGACACTCCGGATCCTCGC 0.612 6 204 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46318255 46318255 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:46318255C>A ENST00000221538.3 - 1 322 c.180G>T c.(178-180)agG>agT p.R60S RSPH6A_ENST00000597055.1_Missense_Mutation_p.R60S NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 60 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 ACAGGCTGCCCCTCTGTGACC 0.647 6 70 --- --- --- --- MBOAT7 79143 broad.mit.edu 37 19 54692102 54692102 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr19:54692102C>A ENST00000245615.1 - 3 655 c.175G>T c.(175-177)Ggg>Tgg p.G59W MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R28L|MBOAT7_ENST00000391754.1_Missense_Mutation_p.G59W|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R28L NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 59 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCCAGGTCCCGAGGATGGTG 0.622 4 86 --- --- --- --- SEC23B 10483 broad.mit.edu 37 20 18522950 18522950 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr20:18522950C>A ENST00000336714.3 + 13 1847 c.1415C>A c.(1414-1416)cCg>cAg p.P472Q SEC23B_ENST00000377465.1_Missense_Mutation_p.P472Q|SEC23B_ENST00000262544.2_Missense_Mutation_p.P472Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.P472Q NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 472 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 CACAACACCCCGATCCCCCAA 0.532 5 233 --- --- --- --- PAX1 5075 broad.mit.edu 37 20 21687334 21687334 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr20:21687334G>T ENST00000398485.2 + 2 599 c.545G>T c.(544-546)cGg>cTg p.R182L PAX1_ENST00000444366.2_Missense_Mutation_p.R158L|PAX1_ENST00000460221.1_Intron NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 182 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 AAGCACATCCGGGACTACAAG 0.637 5 107 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29628246 29628246 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr20:29628246C>A ENST00000278882.3 + 6 628 c.248C>A c.(247-249)gCc>gAc p.A83D FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GCTTTGTTGGCCTCAAATAGC 0.353 6 99 --- --- --- --- MOCS3 27304 broad.mit.edu 37 20 49576642 49576642 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr20:49576642C>A ENST00000244051.1 + 1 1280 c.1263C>A c.(1261-1263)gcC>gcA p.A421A NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 421 Rhodanese. enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 CACAGAAAGCCGTGAAGATCC 0.498 5 141 --- --- --- --- NFATC2 4773 broad.mit.edu 37 20 50140226 50140226 + Missense_Mutation SNP G G T rs148866792 TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr20:50140226G>T ENST00000371564.3 - 2 773 c.554C>A c.(553-555)cCc>cAc p.P185H NFATC2_ENST00000414705.1_Missense_Mutation_p.P165H|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000396009.3_Missense_Mutation_p.P185H|NFATC2_ENST00000609943.1_Missense_Mutation_p.P165H NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 185 3 X approximate SP repeats.|Trans-activation domain A (TAD-A). B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CGAGGTGTAGGGGGAGAAGGT 0.632 5 59 --- --- --- --- SLC17A9 63910 broad.mit.edu 37 20 61594048 61594048 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr20:61594048C>A ENST00000370349.3 + 6 756 c.552C>A c.(550-552)tcC>tcA p.S184S SLC17A9_ENST00000370351.4_Silent_p.S190S|SLC17A9_ENST00000488738.1_3'UTR Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 190 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 TCTATTTCTCCGGCGGCCTCA 0.637 6 170 --- --- --- --- MYT1 4661 broad.mit.edu 37 20 62839624 62839624 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr20:62839624C>A ENST00000536311.1 + 7 1439 c.1075C>A c.(1075-1077)Cgg>Agg p.R359R MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.R359R Q01538 MYT1_HUMAN myelin transcription factor 1 359 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R359W(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CACCCACTCCCGGAAGTCAAC 0.602 5 89 --- --- --- --- LTN1 26046 broad.mit.edu 37 21 30318243 30318243 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr21:30318243C>A ENST00000389194.2 - 21 3797 c.3792G>T c.(3790-3792)ctG>ctT p.L1264L LTN1_ENST00000361371.5_Silent_p.L1218L NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1218 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TATTTACACCCAGTACCTCTG 0.353 5 74 --- --- --- --- TMPRSS2 7113 broad.mit.edu 37 21 42839793 42839793 + Silent SNP C C T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr21:42839793C>T ENST00000398585.3 - 13 1506 c.1446G>A c.(1444-1446)ctG>ctA p.L482L TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000332149.5_Silent_p.L445L NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 445 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TCGAAGTGACCAGAGGCCCTC 0.532 T """ERG, ETV1, ETV4, ETV5""" prostate 8 78 --- --- --- --- PWP2 5822 broad.mit.edu 37 21 45535158 45535158 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr21:45535158G>T ENST00000291576.7 + 6 611 c.484G>T c.(484-486)Ggg>Tgg p.G162W NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 162 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CTTTGTGGTTGGGAGCAAAGA 0.587 6 173 --- --- --- --- AP1B1 162 broad.mit.edu 37 22 29727447 29727447 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr22:29727447C>A ENST00000357586.2 - 19 2701 c.2515G>T c.(2515-2517)Ggg>Tgg p.G839W AP1B1_ENST00000402502.1_Missense_Mutation_p.G832W|AP1B1_ENST00000415447.1_Missense_Mutation_p.G832W|AP1B1_ENST00000317368.7_Missense_Mutation_p.G812W|AP1B1_ENST00000356015.2_Missense_Mutation_p.G832W|AP1B1_ENST00000405198.1_Missense_Mutation_p.G839W|AP1B1_ENST00000432560.2_Missense_Mutation_p.G832W|AP1B1_ENST00000472057.1_5'UTR NM_001127.3 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 839 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CCCATCTTCCCGTCCTCCACA 0.577 6 202 --- --- --- --- HMGXB4 10042 broad.mit.edu 37 22 35661213 35661213 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr22:35661213C>A ENST00000216106.5 + 5 960 c.832C>A c.(832-834)Cac>Aac p.H278N HMGXB4_ENST00000444518.2_Missense_Mutation_p.H169N NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 278 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CGCAGAGTCCCACAGTGCTAA 0.517 5 65 --- --- --- --- MIEF1 54471 broad.mit.edu 37 22 39910032 39910032 + Missense_Mutation SNP A A T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr22:39910032A>T ENST00000325301.2 + 6 1520 c.1096A>T c.(1096-1098)Atc>Ttc p.I366F MIEF1_ENST00000402881.1_Missense_Mutation_p.I366F|MIEF1_ENST00000404569.1_Missense_Mutation_p.I366F NM_019008.4 NP_061881.2 mitochondrial elongation factor 1 366 GTGCCTCAAGATCCTCAAGGC 0.642 OREG0026577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 74 --- --- --- --- SULT4A1 25830 broad.mit.edu 37 22 44258260 44258260 + Translation_Start_Site SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr22:44258260C>A ENST00000330884.4 - 1 123 c.3G>T c.(1-3)atG>atT p.M1I SULT4A1_ENST00000249130.5_Start_Codon_SNP_p.M1I|SULT4A1_ENST00000540422.1_Start_Codon_SNP_p.M1I NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 1 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) CGCTCTCCGCCATgccgccgc 0.791 5 52 --- --- --- --- SBF1 6305 broad.mit.edu 37 22 50905973 50905973 + Silent SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chr22:50905973C>A ENST00000380817.3 - 4 609 c.426G>T c.(424-426)acG>acT p.T142T SBF1_ENST00000348911.6_Silent_p.T143T|SBF1_ENST00000390679.3_Silent_p.T142T NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 DENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TGAACACCTCCGTGTGGTCGA 0.657 5 116 --- --- --- --- SHOX 6473 broad.mit.edu 37 X 591826 591826 + Missense_Mutation SNP A A T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chrX:591826A>T ENST00000381578.1 + 2 885 c.194A>T c.(193-195)cAc>cTc p.H65L SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000554971.1_Missense_Mutation_p.H65L NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 65 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCGGCGGCCACTGCCCGGTG 0.587 22 141 --- --- --- --- SYTL4 94121 broad.mit.edu 37 X 99956498 99956498 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chrX:99956498C>A ENST00000372981.1 - 3 468 c.282G>T c.(280-282)caG>caT p.Q94H SYTL4_ENST00000454200.2_Missense_Mutation_p.Q94H|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q94H|SYTL4_ENST00000372989.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q94H Q96C24 SYTL4_HUMAN synaptotagmin-like 4 94 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CATTGCTTTCCTGTATGCGGC 0.582 6 81 --- --- --- --- SEPT6 23157 broad.mit.edu 37 X 118767429 118767429 + Missense_Mutation SNP C C A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chrX:118767429C>A ENST00000394610.1 - 8 1247 c.983G>T c.(982-984)aGg>aTg p.R328M SEPT6_ENST00000354416.3_Missense_Mutation_p.R328M|SEPT6_ENST00000394617.2_Missense_Mutation_p.R358M|SEPT6_ENST00000394616.4_Missense_Mutation_p.R270M|SEPT6_ENST00000360156.7_Missense_Mutation_p.R328M|SEPT6_ENST00000343984.5_Missense_Mutation_p.R328M|SEPT6_ENST00000354228.4_Missense_Mutation_p.R328M|SEPT6_ENST00000489216.1_Missense_Mutation_p.R328M NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 328 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GAACTCGTTCCTTTTGGCCTC 0.448 T MLL AML 6 208 --- --- --- --- BRS3 680 broad.mit.edu 37 X 135572582 135572582 + Missense_Mutation SNP G G A TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chrX:135572582G>A ENST00000370648.3 + 2 953 c.725G>A c.(724-726)aGg>aAg p.R242K NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 242 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) TTGATTGCTAGGACCCTTTAC 0.388 13 20 --- --- --- --- TREX2 11219 broad.mit.edu 37 X 152713231 152713231 + Missense_Mutation SNP G G T TCGA-G9-6351-01A-21D-1961-08 TCGA-G9-6351-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88a3d315-6079-4be1-a83c-19e11c463b95 638655b9-baf3-4671-bf76-f5dd9fbab89d g.chrX:152713231G>T ENST00000334497.2 - 10 1211 c.70C>A c.(70-72)Cgt>Agt p.R24S TREX2_ENST00000414588.1_Silent_p.A7A|TREX2_ENST00000370232.1_Missense_Mutation_p.R24S|TREX2_ENST00000402951.1_Missense_Mutation_p.R24S|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000393862.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370211.4_3'UTR|TREX2_ENST00000338525.2_5'UTR Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 24 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding endometrium(4)|large_intestine(2)|lung(3)|ovary(2) 11 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCTGCAACGGCTTCTGCTG 0.587 Editing and processing nucleases 6 184 --- --- --- ---