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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample C1orf86 199990 broad.mit.edu 37 1 2125504 2125504 + Missense_Mutation SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:2125504A>T uc001aiy.2 - 2 157 c.131T>A c.(130-132)CTG>CAG p.L44Q C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Intron NM_182533 NP_872339 Q6NZ36 CA086_HUMAN hypothetical protein LOC199990 isoform 2 44 0 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CACCGTGCGCAGTAGCTCGGC 0.672 NaN 0 0 0 0.000602 0 5 27 UBE4B 10277 broad.mit.edu 37 1 10166548 10166548 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:10166548C>T uc001aqs.3 + 7 1816 c.1103C>T c.(1102-1104)TCC>TTC p.S368F UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 368 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GCCAGCAGTTCCAGACAGAGG 0.652 NaN 0 0 0 0.001368 0 10 43 EPHA2 1969 broad.mit.edu 37 1 16477395 16477395 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:16477395T>C uc001aya.1 - 2 286 c.149A>G c.(148-150)AAA>AGA p.K50R EPHA2_uc010oca.1_Missense_Mutation_p.K50R NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 50 Extracellular (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ACATACCCCTTTGCCATACGG 0.473 NaN 0 0 0 0.010504 0 17 130 PADI1 29943 broad.mit.edu 37 1 17552363 17552363 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:17552363C>T uc001bah.1 + 5 558 c.466C>T c.(466-468)CGG>TGG p.R156W NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 156 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GAACTGTGACCGGGACAATCA 0.597 NaN 0 0 0 0.007413 0 20 162 UBR4 23352 broad.mit.edu 37 1 19449357 19449357 + Silent SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:19449357G>C uc001bbi.2 - 66 9790 c.9786C>G c.(9784-9786)TCC>TCG p.S3262S UBR4_uc001bbk.1_Silent_p.S909S NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3262 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ATTGCAAGGCGGAGCCTGAGC 0.562 NaN 0 0 0 0.002299 0 22 128 PLA2G2E 30814 broad.mit.edu 37 1 20248869 20248869 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:20248869C>G uc001bct.1 - 3 266 c.208G>C c.(208-210)GGG>CGG p.G70R NM_014589 NP_055404 Q9NZK7 PA2GE_HUMAN phospholipase A2, group IIE precursor 70 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCCAGACGCCCGTAGCAGCAG 0.612 NaN 0 0 0 0.001168 0 5 54 EPHA8 2046 broad.mit.edu 37 1 22903038 22903038 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:22903038G>A uc001bfx.1 + 3 613 c.488G>A c.(487-489)CGT>CAT p.R163H EPHA8_uc001bfw.2_Missense_Mutation_p.R163H NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 163 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGTGTGCGGCGTCTCAAGCTC 0.622 NaN 0 0 0 0.004482 0 9 87 ASAP3 55616 broad.mit.edu 37 1 23763959 23763959 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:23763959C>T uc001bha.2 - 13 1233 c.1109G>A c.(1108-1110)CGG>CAG p.R370Q ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_5'Flank|ASAP3_uc010odz.1_Missense_Mutation_p.R239Q|ASAP3_uc010oea.1_Missense_Mutation_p.R361Q|ASAP3_uc001bhb.2_5'UTR NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 370 PH. regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 GTGGTACGTCCGGTTGTCTGT 0.682 NaN 0 0 0 0.001984 0 7 92 MYOM3 127294 broad.mit.edu 37 1 24392387 24392387 + Missense_Mutation SNP A A C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:24392387A>C uc001bin.3 - 29 3691 c.3528T>G c.(3526-3528)ATT>ATG p.I1176M MYOM3_uc001bil.3_Missense_Mutation_p.I69M|MYOM3_uc001bim.3_Missense_Mutation_p.I833M|MYOM3_uc001bio.2_Missense_Mutation_p.I1176M NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1176 Ig-like C2-type 3. skin(2)|ovary(1) 3 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) TTGCCTCTTCAATGCAGAGAA 0.547 NaN 0 0 0 0.00361 0 238 61 PTP4A2 8073 broad.mit.edu 37 1 32381498 32381498 + Missense_Mutation SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:32381498G>C uc001bty.1 - 3 1181 c.187C>G c.(187-189)CTA>GTA p.L63V PTP4A2_uc010ogs.1_Intron|PTP4A2_uc001btz.1_Missense_Mutation_p.L63V NM_080391 NP_536316 Q12974 TP4A2_HUMAN protein tyrosine phosphatase type IVA, member 2 63 early endosome|plasma membrane prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity 0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) ACACTCACTAGAACGTGGATT 0.254 NaN 0 0 0 0.010729 0 12 38 CSF3R 1441 broad.mit.edu 37 1 36941192 36941192 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:36941192C>T uc001caw.1 - 4 325 c.147G>A c.(145-147)AAG>AAA p.K49K CSF3R_uc001cav.1_Silent_p.K49K|CSF3R_uc001cax.1_Silent_p.K49K|CSF3R_uc001cay.1_Silent_p.K49K NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 49 Ig-like C2-type.|Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TGCAGTTCTGCTTGATGATGC 0.622 NaN 0 0 0 0.00278 0 20 17 MPL 4352 broad.mit.edu 37 1 43804317 43804317 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:43804317C>T uc001ciw.2 + 3 362 c.317C>T c.(316-318)CCG>CTG p.P106L MPL_uc001civ.2_Missense_Mutation_p.P106L|MPL_uc009vwr.2_Missense_Mutation_p.P99L NM_005373 NP_005364 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 106 Extracellular (Potential). cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1) 363 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTCTTCTTTCCGCTGCACCTC 0.562 NaN Mis MPD MPD congenital amegakaryocytic thrombocytopenia 0 0 0 0.007835 0 42 41 HYI 81888 broad.mit.edu 37 1 43917920 43917920 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:43917920C>T uc001cjo.2 - 3 552 c.382G>A c.(382-384)GTT>ATT p.V128I KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Missense_Mutation_p.V55I|HYI_uc001cjn.2_Missense_Mutation_p.V128I|HYI_uc001cjp.2_Missense_Mutation_p.V55I NM_031207 NP_112484 Q5T013 HYI_HUMAN hydroxypyruvate isomerase homolog 128 hydroxypyruvate isomerase activity ovary(1) 1 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCCAGAAAAACGGCCTCCATC 0.562 NaN 0 0 0 0.004672 0 3 19 ZFYVE9 9372 broad.mit.edu 37 1 52704303 52704303 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:52704303C>G uc001cto.2 + 4 1386 c.1214C>G c.(1213-1215)ACT>AGT p.T405S ZFYVE9_uc001ctn.2_Missense_Mutation_p.T405S|ZFYVE9_uc001ctp.2_Missense_Mutation_p.T405S NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 405 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 TGGAAGTTGACTAAACTAAAT 0.373 NaN 0 0 0 0.010818 0 34 85 LPAR3 23566 broad.mit.edu 37 1 85331472 85331472 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:85331472C>T uc001dkl.2 - 1 371 c.332G>A c.(331-333)AGT>AAT p.S111N LPAR3_uc009wcj.1_Missense_Mutation_p.S111N NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 111 Helical; Name=3; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 AGTCAAGCTACTGTCCAGAAG 0.498 NaN 0 0 0 0.00361 0 114 104 ARHGAP29 9411 broad.mit.edu 37 1 94650459 94650459 + Nonsense_Mutation SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:94650459G>T uc001dqj.3 - 18 2447 c.2078C>A c.(2077-2079)TCA>TAA p.S693* ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Nonsense_Mutation_p.S259* NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 693 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTCAATCTCTGAGGCACATAT 0.333 NaN 1 0 1.45105e-14 0.006122 1.62725e-14 18 71 KCNA2 3737 broad.mit.edu 37 1 111146201 111146201 + Missense_Mutation SNP T T A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:111146201T>A uc001dzu.2 - 2 1700 c.1204A>T c.(1204-1206)ATT>TTT p.I402F KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.I402F NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 402 Helical; Name=Segment S6; (Potential). juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) GGTAAGGCAATAGTTAACACA 0.498 NaN 0 0 0 0.006999 0 41 46 CTTNBP2NL 55917 broad.mit.edu 37 1 112999502 112999502 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:112999502G>A uc001ebx.2 + 6 1616 c.1388G>A c.(1387-1389)CGC>CAC p.R463H CTTNBP2NL_uc001ebz.2_RNA NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 463 actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CATGCAGCTCGCCACAAATTT 0.542 NaN 0 0 0 0.00623 0 40 120 HRNR 388697 broad.mit.edu 37 1 152187692 152187692 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:152187692G>A uc001ezt.1 - 3 6489 c.6413C>T c.(6412-6414)TCT>TTT p.S2138F NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2138 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGATCTAGAGCCGTGTTG 0.572 NaN 0 0 0 0.002836 0 26 673 ATP8B2 57198 broad.mit.edu 37 1 154321348 154321348 + Missense_Mutation SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:154321348G>C uc001fex.2 + 28 3426 c.3426G>C c.(3424-3426)CAG>CAC p.Q1142H NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 1128 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGAAGAAGCAGAAGGCCCAGC 0.637 NaN 0 0 0 0.00245 0 11 7 CCDC19 25790 broad.mit.edu 37 1 159842832 159842832 + Silent SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:159842832C>G uc001fui.2 - 11 1497 c.1479G>C c.(1477-1479)CGG>CGC p.R493R CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Silent_p.R408R|CCDC19_uc001ful.2_Silent_p.R408R NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 493 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) AGGTGGCAATCCGGTTCTGCA 0.592 NaN 0 0 0 0.00361 0 56 184 VANGL2 57216 broad.mit.edu 37 1 160389046 160389046 + Missense_Mutation SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:160389046C>A uc001fwb.1 + 5 746 c.447C>A c.(445-447)TTC>TTA p.F149L VANGL2_uc001fwc.1_Missense_Mutation_p.F149L NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 149 Helical; Name=2; (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGGCCTCTTCATCTCTGTCG 0.662 NaN 1 0 3.32936e-07 0.006122 3.51993e-07 18 171 CD244 51744 broad.mit.edu 37 1 160801216 160801216 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:160801216A>G uc009wtq.2 - 9 1212 c.1034T>C c.(1033-1035)ATT>ACT p.I345T CD244_uc001fxa.2_Missense_Mutation_p.I340T|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.I248T NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 345 Cytoplasmic (Potential). blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ACTCTTTCCAATCTGCAAAAG 0.328 NaN 0 0 0 0.007291 0 27 306 SELL 6402 broad.mit.edu 37 1 169677940 169677940 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:169677940G>A uc001ggk.2 - 3 288 c.90C>T c.(88-90)TTC>TTT p.F30F C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_5'UTR|SELL_uc001ggl.1_Silent_p.F43F NM_000655 NP_000646 P14151 LYAM1_HUMAN selectin L precursor 30 blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding 0 all_hematologic(923;0.208) GATGTGCCAGGAAATCTGCAA 0.294 NaN 0 0 0 0.009096 0 4 4 ATP2B4 493 broad.mit.edu 37 1 203667472 203667472 + Silent SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:203667472A>G uc001gzw.2 + 3 1265 c.381A>G c.(379-381)GAA>GAG p.E127E ATP2B4_uc001gzv.2_Silent_p.E127E|ATP2B4_uc009xaq.2_Silent_p.E127E NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 127 Extracellular (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CTGCTGGTGAAGAAAATGAAC 0.483 NaN 0 0 0 0.012319 0 23 65 PIGR 5284 broad.mit.edu 37 1 207109079 207109079 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:207109079T>C uc001hez.2 - 5 1314 c.1130A>G c.(1129-1131)GAA>GGA p.E377G PIGR_uc009xbz.2_Missense_Mutation_p.E377G NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 377 Ig-like V-type 4.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 GCTTTTGCTTTCCTTACGGTT 0.622 NaN OREG0014186 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00278 0 21 4 ACBD7 414149 broad.mit.edu 37 10 15058950 15058950 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr10:15058950C>T uc010qby.1 - 7 550 c.241G>A c.(241-243)GGC>AGC p.G81S Q8N6N7 ACBD7_HUMAN SubName: Full=cDNA FLJ52263, highly similar to Artemis protein (EC 3.1.-.-); Error:Variant_position_missing_in_Q8N6N7_after_alignment fatty-acyl-CoA binding 0 TATTCATAGCCATAAGCCGCT 0.373 NaN 0 0 0 0.007291 0 30 117 ABI1 10006 broad.mit.edu 37 10 27112231 27112231 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr10:27112231T>C uc001isx.2 - 2 288 c.121A>G c.(121-123)ACA>GCA p.T41A ABI1_uc001ite.2_Missense_Mutation_p.T41A|ABI1_uc010qdh.1_Missense_Mutation_p.T41A|ABI1_uc010qdi.1_Missense_Mutation_p.T41A|ABI1_uc001isy.2_Missense_Mutation_p.T41A|ABI1_uc001ita.2_Missense_Mutation_p.T41A|ABI1_uc001isz.2_Missense_Mutation_p.T41A|ABI1_uc001itb.2_Missense_Mutation_p.T58A|ABI1_uc001itc.2_Missense_Mutation_p.T41A|ABI1_uc010qdj.1_Missense_Mutation_p.T41A|ABI1_uc001itd.2_Missense_Mutation_p.T41A|ABI1_uc010qdk.1_Missense_Mutation_p.T41A NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a 41 Required for binding to WASF1 (By similarity). actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 CTCTTGTCTGTAGCCTGAAAT 0.303 NaN 0 0 0 0.006122 0 18 47 SYNPO2L 79933 broad.mit.edu 37 10 75406722 75406722 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr10:75406722C>T uc001jut.3 - 4 2840 c.2688G>A c.(2686-2688)CAG>CAA p.Q896Q SYNPO2L_uc001jus.3_Silent_p.Q672Q NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 896 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) CTGCAGTGGGCTGGGGTGCCG 0.627 NaN 0 0 0 0.010818 0 31 13 FAM178A 55719 broad.mit.edu 37 10 102684688 102684688 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr10:102684688G>A uc001krt.3 + 5 2472 c.1930G>A c.(1930-1932)GCT>ACT p.A644T FAM178A_uc001krr.1_Missense_Mutation_p.A644T|FAM178A_uc001krs.2_Missense_Mutation_p.A644T|FAM178A_uc001kru.1_Missense_Mutation_p.A579T NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 644 0 AAAGCCTCCTGCTCTTTCCAA 0.403 NaN 0 0 0 0.00361 0 89 37 CNNM2 54805 broad.mit.edu 37 10 104679190 104679190 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr10:104679190C>T uc001kwm.2 + 1 1077 c.953C>T c.(952-954)TCA>TTA p.S318L CNNM2_uc001kwn.2_Missense_Mutation_p.S318L|CNNM2_uc001kwl.2_Missense_Mutation_p.S318L NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 318 DUF21.|Helical; (Potential). ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CTGCTGTGCTCACTGCTGCTG 0.632 NaN 0 0 0 0.003163 0 15 9 EIF3A 8661 broad.mit.edu 37 10 120817659 120817659 + Nonsense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr10:120817659G>A uc001ldu.2 - 12 1932 c.1786C>T c.(1786-1788)CAG>TAG p.Q596* EIF3A_uc010qsu.1_Nonsense_Mutation_p.Q562* NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 596 Glu-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) GCTTCCCTCTGTTCCAATTCT 0.512 NaN 0 0 0 0.012213 0 33 99 C10orf90 118611 broad.mit.edu 37 10 128192613 128192613 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr10:128192613C>T uc001ljq.2 - 3 1277 c.1156G>A c.(1156-1158)GGG>AGG p.G386R C10orf90_uc001ljp.2_Missense_Mutation_p.G339R|C10orf90_uc010qum.1_Missense_Mutation_p.G483R|C10orf90_uc009yao.2_Missense_Mutation_p.G483R|C10orf90_uc001ljs.1_Missense_Mutation_p.G339R NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 386 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TCCTTTTCCCCTTTTCTTACA 0.502 NaN OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00874 0 43 14 MGMT 4255 broad.mit.edu 37 10 131565073 131565073 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr10:131565073C>G uc001lkh.2 + 5 555 c.529C>G c.(529-531)CAC>GAC p.H177D NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 146 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) CATCCCGTGCCACAGAGTGGT 0.632 NaN Direct_reversal_of_damage 0 0 0 0.000602 0 5 4 DPYSL4 10570 broad.mit.edu 37 10 134018389 134018389 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr10:134018389C>T uc009ybb.2 + 14 1828 c.1674C>T c.(1672-1674)ATC>ATT p.I558I NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 558 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CACAGAAGATCATGGCACCAC 0.672 NaN 0 0 0 0.002836 0 31 139 KNDC1 85442 broad.mit.edu 37 10 135011911 135011911 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr10:135011911C>T uc001llz.1 + 13 1978 c.1977C>T c.(1975-1977)TGC>TGT p.C659C KNDC1_uc001lma.1_Silent_p.C594C|KNDC1_uc001lmb.1_Silent_p.C71C NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 659 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AGCACCCCTGCGGTGAAGAAG 0.682 NaN 0 0 0 0.009096 0 4 5 OR56B4 196335 broad.mit.edu 37 11 6129404 6129404 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr11:6129404C>T uc010qzx.1 + 1 396 c.396C>T c.(394-396)ATC>ATT p.I132I NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 132 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATAGCCATCTGTCGCCCTC 0.498 NaN 0 0 0 0.00361 0 69 25 PIK3C2A 5286 broad.mit.edu 37 11 17115836 17115836 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr11:17115836T>C uc001mmq.3 - 27 4489 c.4423A>G c.(4423-4425)ATT>GTT p.I1475V PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.I1095V|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 1475 PX. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) GGAAAAATAATACTGAGCTTA 0.348 NaN 0 0 0 0.002299 0 22 9 MRGPRX1 259249 broad.mit.edu 37 11 18955715 18955715 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr11:18955715G>A uc001mpg.2 - 1 835 c.617C>T c.(616-618)TCC>TTC p.S206F NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 206 Cytoplasmic (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 TATCTTCCGGGATCCACAGAG 0.502 NaN 0 0 0 0.001368 0 11 52 CAT 847 broad.mit.edu 37 11 34489896 34489896 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr11:34489896T>C uc001mvm.2 + 11 1471 c.1388T>C c.(1387-1389)ATT>ACT p.I463T CAT_uc001mvn.2_Missense_Mutation_p.I72T NM_001752 NP_001743 P04040 CATA_HUMAN catalase 463 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity ovary(2)|pancreas(1) 3 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) TGTGAGAACATTGCCGGCCAC 0.488 NaN 0 0 0 0.00361 0 82 20 OR8H2 390151 broad.mit.edu 37 11 55872916 55872916 + Missense_Mutation SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr11:55872916C>A uc010riy.1 + 1 398 c.398C>A c.(397-399)ACA>AAA p.T133K NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 133 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) CTACACTACACAGTTATTATG 0.463 NaN HNSCC(53;0.14) 1 0 1.02165e-56 0.00361 1.16231e-56 140 78 ODZ4 26011 broad.mit.edu 37 11 78433795 78433795 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr11:78433795C>T uc001ozl.3 - 24 4181 c.3718G>A c.(3718-3720)GAC>AAC p.D1240N NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1240 Extracellular (Potential).|NHL 1. signal transduction integral to membrane ovary(2)|pancreas(2) 4 AGGCTCCCGTCAGAGCCACAG 0.562 NaN 0 0 0 0.00333 0 24 57 MMP20 9313 broad.mit.edu 37 11 102495964 102495964 + Silent SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr11:102495964G>C uc001phc.2 - 1 100 c.87C>G c.(85-87)GCC>GCG p.A29A NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 29 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) TCCTGGGGGAGGCTGCAACTA 0.537 NaN 0 0 0 0.00361 0 47 20 DCPS 28960 broad.mit.edu 37 11 126176504 126176504 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr11:126176504G>A uc001qdp.2 + 2 570 c.241G>A c.(241-243)GTT>ATT p.V81I NM_014026 NP_054745 Q96C86 DCPS_HUMAN mRNA decapping enzyme 81 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) AGAGGATGCCGTTGTGATCCT 0.572 NaN 0 0 0 0.001855 0 13 6 NCAPD2 9918 broad.mit.edu 37 12 6623746 6623746 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:6623746A>G uc001qoo.2 + 8 878 c.832A>G c.(832-834)ATT>GTT p.I278V NCAPD2_uc009zen.1_Missense_Mutation_p.I150V|NCAPD2_uc010sfd.1_Missense_Mutation_p.I233V NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 278 Interactions with SMC2 and SMC4. cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 AGTGGGAGAGATTGTAAGGTG 0.443 NaN 0 0 0 0.002836 0 34 33 RECQL 5965 broad.mit.edu 37 12 21627868 21627868 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:21627868C>T uc001rex.2 - 12 1610 c.1262G>A c.(1261-1263)GGA>GAA p.G421E RECQL_uc001rey.2_Missense_Mutation_p.G421E NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 421 Helicase C-terminal. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 GAATATATCTCCAAAGCCGTA 0.373 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.00361 0 107 54 ABCC9 10060 broad.mit.edu 37 12 22005388 22005388 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:22005388C>G uc001rfi.1 - 21 2577 c.2557G>C c.(2557-2559)GAG>CAG p.E853Q ABCC9_uc001rfh.2_Missense_Mutation_p.E853Q|ABCC9_uc001rfj.1_Missense_Mutation_p.E817Q NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 853 Cytoplasmic (Potential).|ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAAATCCCCTCCTGCATTAAA 0.408 NaN 0 0 0 0.004007 0 16 205 DENND5B 160518 broad.mit.edu 37 12 31648850 31648850 + Missense_Mutation SNP T T G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:31648850T>G uc001rki.1 - 2 317 c.131A>C c.(130-132)GAA>GCA p.E44A DENND5B_uc001rkh.1_Missense_Mutation_p.E79A|DENND5B_uc001rkj.2_Missense_Mutation_p.E66A|DENND5B_uc001rkk.1_5'UTR NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 44 integral to membrane ovary(1)|central_nervous_system(1) 2 GTCAAAATTTTCGCCTACAAC 0.338 NaN 0 0 0 0.006122 0 19 63 LARP4 113251 broad.mit.edu 37 12 50829280 50829280 + Missense_Mutation SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:50829280G>T uc001rwp.1 + 5 552 c.408G>T c.(406-408)TTG>TTT p.L136F LARP4_uc001rwo.1_Missense_Mutation_p.L142F|LARP4_uc001rwq.1_Missense_Mutation_p.L136F|LARP4_uc001rwr.1_Missense_Mutation_p.L136F|LARP4_uc001rws.1_Missense_Mutation_p.L135F|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Missense_Mutation_p.L136F|LARP4_uc001rwn.2_Missense_Mutation_p.L66F NM_052879 NP_443111 Q71RC2 LARP4_HUMAN c-Mpl binding protein isoform a 136 HTH La-type RNA-binding. nucleotide binding|RNA binding ovary(1) 1 GAGAAAATTTGTCAAAGGATC 0.313 NaN 1 0 1.42536e-11 0.004656 1.5649e-11 25 111 SCN8A 6334 broad.mit.edu 37 12 52164425 52164425 + Missense_Mutation SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:52164425G>C uc001ryw.2 + 19 3781 c.3603G>C c.(3601-3603)GAG>GAC p.E1201D SCN8A_uc010snl.1_Missense_Mutation_p.E1066D NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1201 III.|Helical; Name=S1 of repeat III; (Potential). axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ACTGGTTTGAGACCTTCATCA 0.557 NaN 0 0 0 0.008291 0 10 133 ESPL1 9700 broad.mit.edu 37 12 53677876 53677876 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:53677876G>A uc001sck.2 + 17 3203 c.3112G>A c.(3112-3114)GAG>AAG p.E1038K ESPL1_uc001scj.2_Missense_Mutation_p.E713K|ESPL1_uc010soe.1_Missense_Mutation_p.E249K NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1038 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 GGGCGAGCTGGAGCTGGCCCG 0.532 NaN 0 0 0 0.00361 0 79 173 OR6C70 390327 broad.mit.edu 37 12 55863095 55863095 + Silent SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:55863095A>G uc010spn.1 - 1 828 c.828T>C c.(826-828)AAT>AAC p.N276N NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CAACTGAAGTATTGAGCACAG 0.358 NaN 0 0 0 0.003163 0 16 179 ZFC3H1 196441 broad.mit.edu 37 12 72057170 72057170 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:72057170G>A uc001swo.2 - 1 580 c.221C>T c.(220-222)TCG>TTG p.S74L ZFC3H1_uc010sts.1_Missense_Mutation_p.S74L|ZFC3H1_uc001swp.2_Missense_Mutation_p.S74L|THAP2_uc001swq.2_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 74 Ser-rich. RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GGACGATGACGAGGAAGAGCC 0.677 NaN OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003163 0 14 289 TRHDE 29953 broad.mit.edu 37 12 72680477 72680477 + Nonsense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:72680477C>T uc001sxa.2 + 2 826 c.796C>T c.(796-798)CAG>TAG p.Q266* NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 266 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TGGTGTTACTCAGTTTTCGCC 0.363 NaN 0 0 0 0.00361 0 82 441 TRHDE 29953 broad.mit.edu 37 12 72680639 72680639 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:72680639C>T uc001sxa.2 + 2 988 c.958C>T c.(958-960)CAC>TAC p.H320Y NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 320 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GGTTACGGATCACTTTTCACA 0.408 NaN 0 0 0 0.00361 0 127 531 TMPO 7112 broad.mit.edu 37 12 98925604 98925604 + Missense_Mutation SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:98925604G>C uc001tfj.2 + 3 790 c.553G>C c.(553-555)GAC>CAC p.D185H TMPO_uc001tfi.1_Missense_Mutation_p.D185H|TMPO_uc001tfk.2_Missense_Mutation_p.D185H|TMPO_uc001tfl.2_RNA|TMPO_uc001tfh.1_Missense_Mutation_p.D185H NM_001032283 NP_001027454 P42167 LAP2B_HUMAN thymopoietin isoform beta 185 Nucleoplasmic (Potential).|NAKAP95-binding N. integral to membrane|nuclear inner membrane DNA binding|lamin binding ovary(2) 2 CAGATACAGTGACAATGAAGA 0.313 NaN 0 0 0 0.009535 0 29 35 NUAK1 9891 broad.mit.edu 37 12 106500253 106500253 + Missense_Mutation SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:106500253C>A uc001tlj.1 - 2 1671 c.291G>T c.(289-291)ATG>ATT p.M97I NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 97 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 TGATGTGAACCATGTCTTGTT 0.343 NaN 1 0 0.000375601 0.00278 0.000386684 25 5 CUX2 23316 broad.mit.edu 37 12 111758093 111758093 + Silent SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:111758093G>T uc001tsa.1 + 17 2433 c.2280G>T c.(2278-2280)CCG>CCT p.P760P NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 760 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CGCCGCTCCCGGTCCTGTCCC 0.736 NaN 1 0 1.58986e-06 0.008291 1.66962e-06 11 16 HPD 3242 broad.mit.edu 37 12 122281692 122281692 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:122281692G>A uc001ubj.2 - 12 918 c.878C>T c.(877-879)TCC>TTC p.S293F HPD_uc001ubk.2_Missense_Mutation_p.S254F NM_002150 NP_002141 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 293 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) GTAGTACGTGGAGGGAACAGA 0.542 NaN 0 0 0 0.012319 0 22 29 RIMBP2 23504 broad.mit.edu 37 12 130912840 130912840 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:130912840G>A uc001uil.2 - 12 2409 c.2245C>T c.(2245-2247)CGG>TGG p.R749W NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 749 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCAGACCCCCGGCTGCTCTCT 0.617 NaN 0 0 0 0.004007 0 14 45 PCDH9 5101 broad.mit.edu 37 13 67802415 67802415 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr13:67802415T>C uc001vik.2 - 2 850 c.158A>G c.(157-159)AAT>AGT p.N53S PCDH9_uc001vil.2_Missense_Mutation_p.N53S|PCDH9_uc010thl.1_Missense_Mutation_p.N53S|PCDH9_uc001vin.3_Missense_Mutation_p.N53S NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 53 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TGTGGCAGCATTGATGTGAGA 0.458 NaN 0 0 0 0.003954 0 24 12 REC8 9985 broad.mit.edu 37 14 24648917 24648917 + Missense_Mutation SNP T T G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr14:24648917T>G uc001wmr.2 + 19 1863 c.1436T>G c.(1435-1437)CTG>CGG p.L479R REC8_uc001wms.2_Missense_Mutation_p.L479R NM_005132 NP_005123 O95072 REC8_HUMAN REC8 homolog 479 Glu-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm 0 GBM - Glioblastoma multiforme(265;0.00839) CTGCTCTCACTGGAAGCAGTG 0.612 NaN 0 0 0 0.003954 0 26 48 CTSG 1511 broad.mit.edu 37 14 25043947 25043947 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr14:25043947C>T uc001wpq.2 - 3 310 c.273G>A c.(271-273)GCG>GCA p.A91A NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 91 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) TGGCTCTGCGCGCAGTGATGT 0.532 NaN 0 0 0 0.003954 0 25 69 TRIM9 114088 broad.mit.edu 37 14 51561002 51561002 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr14:51561002C>T uc001wyx.3 - 1 1421 c.656G>A c.(655-657)CGG>CAG p.R219Q TRIM9_uc001wyy.2_Missense_Mutation_p.R219Q|TRIM9_uc001wyz.3_Missense_Mutation_p.R219Q NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 219 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) GCTCAGCCTCCGGCTCACACG 0.672 NaN 0 0 0 0.00308 0 8 22 PLEKHG3 26030 broad.mit.edu 37 14 65197535 65197535 + Silent SNP G G T rs144144480 TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr14:65197535G>T uc001xho.1 + 6 854 c.585G>T c.(583-585)ACG>ACT p.T195T PLEKHG3_uc001xhn.1_Silent_p.T139T|PLEKHG3_uc001xhp.2_Silent_p.T195T|PLEKHG3_uc010aqh.1_5'UTR NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 195 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CCGCCCTGACGGAATGCATGC 0.642 NaN 1 0 4.93089e-13 0.00245 5.47102e-13 13 15 C14orf181 400223 broad.mit.edu 37 14 69262557 69262557 + Missense_Mutation SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr14:69262557G>C uc001xkj.1 - 1 634 c.455C>G c.(454-456)TCG>TGG p.S152W ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank NM_207442 NP_997325 hypothetical protein LOC400223 0 all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399) AGGAGGGAGCGAGTCCCTTAA 0.617 NaN 0 0 0 0.00874 0 27 31 C14orf45 80127 broad.mit.edu 37 14 74489638 74489638 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr14:74489638G>A uc010tup.1 + 2 199 c.76G>A c.(76-78)GAA>AAA p.E26K NM_025057 NP_079333 Q8ND07 CN045_HUMAN hypothetical protein LOC80127 26 0 BRCA - Breast invasive adenocarcinoma(234;0.00351) AAAAACAGATGAATCTGTGGT 0.388 NaN 0 0 0 0.00308 0 8 16 HERC2 8924 broad.mit.edu 37 15 28467360 28467360 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:28467360G>A uc001zbj.2 - 36 5572 c.5466C>T c.(5464-5466)GGC>GGT p.G1822G NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1822 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 ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 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) CACAACTGGGGCCTGATGGAG 0.443 NaN 0 0 0 0.004007 0 16 29 FBN1 2200 broad.mit.edu 37 15 48752456 48752456 + Silent SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:48752456G>C uc001zwx.1 - 43 5611 c.5283C>G c.(5281-5283)ACC>ACG p.T1761T FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1761 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGGGTAAACCGGTATAAATGT 0.418 NaN 0 0 0 0.00499 0 15 21 FBN1 2200 broad.mit.edu 37 15 48787780 48787780 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:48787780C>T uc001zwx.1 - 21 2753 c.2425G>A c.(2425-2427)GAT>AAT p.D809N NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 809 EGF-like 13; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCGCATTCATCAATGTCTGAA 0.378 NaN 0 0 0 0.00361 0 64 99 SECISBP2L 9728 broad.mit.edu 37 15 49309824 49309824 + Missense_Mutation SNP T T A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:49309824T>A uc001zxe.1 - 9 1306 c.1172A>T c.(1171-1173)GAT>GTT p.D391V SECISBP2L_uc001zxd.1_Missense_Mutation_p.D346V|SECISBP2L_uc010bep.1_Missense_Mutation_p.D153V|SECISBP2L_uc010beq.1_Missense_Mutation_p.D263V NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 391 breast(1)|skin(1) 2 CCCATCTTCATCCTGAAATGT 0.284 NaN 0 0 0 0.000602 0 5 18 DPP8 54878 broad.mit.edu 37 15 65790284 65790284 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:65790284C>G uc002aov.2 - 5 2259 c.681G>C c.(679-681)TGG>TGC p.W227C DPP8_uc002aow.2_Missense_Mutation_p.W227C|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.W211C|DPP8_uc002aoy.2_Missense_Mutation_p.W227C|DPP8_uc002aoz.2_Missense_Mutation_p.W211C|DPP8_uc010bhj.2_Missense_Mutation_p.W227C|DPP8_uc002apa.2_Missense_Mutation_p.W124C NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 227 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 TAAAAGCAATCCAGTCTGGAT 0.403 NaN 0 0 0 0.010818 0 33 34 MYO9A 4649 broad.mit.edu 37 15 72193566 72193566 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:72193566A>G uc002atl.3 - 23 3589 c.3116T>C c.(3115-3117)TTC>TCC p.F1039S MYO9A_uc010biq.2_Missense_Mutation_p.F659S|MYO9A_uc002atn.1_Missense_Mutation_p.F1020S|MYO9A_uc002atk.2_5'Flank|MYO9A_uc002atm.1_5'Flank NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1039 IQ 1.|Neck or regulatory domain. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 CAGATGGAGGAAATGCTGCCT 0.443 NaN 0 0 0 0.010504 0 21 26 PML 5371 broad.mit.edu 37 15 74315653 74315653 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:74315653G>A uc002awv.2 + 3 1227 c.1087G>A c.(1087-1089)GAG>AAG p.E363K PML_uc002awm.2_Missense_Mutation_p.E363K|PML_uc002awl.2_Missense_Mutation_p.E363K|PML_uc002awj.1_Missense_Mutation_p.E363K|PML_uc002awk.2_Missense_Mutation_p.E363K|PML_uc002awn.2_Missense_Mutation_p.E363K|PML_uc002awo.2_Missense_Mutation_p.E363K|PML_uc002awp.2_Missense_Mutation_p.E363K|PML_uc002awq.2_Missense_Mutation_p.E363K|PML_uc002awr.2_Missense_Mutation_p.E363K|PML_uc002aws.2_Missense_Mutation_p.E363K|PML_uc002awt.2_Missense_Mutation_p.E363K|PML_uc002awu.2_Missense_Mutation_p.E363K|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.E278K|PML_uc002awx.2_Missense_Mutation_p.E121K|PML_uc002awy.2_5'Flank NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 363 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 GCGCCAGGAGGAGCCCCAGAG 0.652 NaN T RARA|PAX5 APL|ALL 0 0 0 0.004007 0 9 20 SCAPER 49855 broad.mit.edu 37 15 76994116 76994116 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:76994116G>A uc002bby.2 - 19 2550 c.2491C>T c.(2491-2493)CTG>TTG p.L831L SCAPER_uc010bkr.2_Silent_p.L139L|SCAPER_uc002bbx.2_Silent_p.L585L|SCAPER_uc002bbz.1_Silent_p.L702L|SCAPER_uc002bca.1_Silent_p.L696L NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 830 endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 TCATCTGACAGTTCACGCCCC 0.373 NaN 0 0 0 0.003755 0 33 21 MORF4L1 10933 broad.mit.edu 37 15 79187188 79187188 + Missense_Mutation SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:79187188A>T uc002bel.2 + 12 1134 c.946A>T c.(946-948)ACA>TCA p.T316S MORF4L1_uc002bem.2_Missense_Mutation_p.T277S|MORF4L1_uc010une.1_Missense_Mutation_p.T189S NM_206839 NP_996670 Q9UBU8 MO4L1_HUMAN MORF-related gene 15 isoform 2 316 Sufficient for interaction with PHF12. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding 0 GTTGGCTTATACACCTCTGGA 0.343 NaN 0 0 0 0.003755 0 36 43 ANPEP 290 broad.mit.edu 37 15 90348650 90348650 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:90348650G>A uc002bop.3 - 3 951 c.659C>T c.(658-660)TCC>TTC p.S220F NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 220 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GCATGGGAAGGACTTCCGGGC 0.602 NaN 0 0 0 0.010504 0 20 14 ZNF710 374655 broad.mit.edu 37 15 90611334 90611334 + Missense_Mutation SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:90611334C>A uc002bov.1 + 2 1088 c.965C>A c.(964-966)CCA>CAA p.P322Q NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN zinc finger protein 710 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) GGCATCAAGCCACACTCGTGC 0.637 NaN 1 0 0.000978159 0.010729 0.00100373 9 22 BLM 641 broad.mit.edu 37 15 91290711 91290711 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr15:91290711C>T uc002bpr.2 + 2 186 c.89C>T c.(88-90)CCA>CTA p.P30L BLM_uc010uqh.1_Missense_Mutation_p.P30L|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Missense_Mutation_p.P30L NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 30 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CTTTCAAAACCAAAATTTTCG 0.294 NaN Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome 0 0 0 0.001984 0 7 13 C16orf11 146325 broad.mit.edu 37 16 613383 613383 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:613383C>G uc002chk.2 + 2 368 c.89C>G c.(88-90)CCC>CGC p.P30R NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 30 central_nervous_system(1) 1 ATCCCGCGGCCCTGGGGCAAA 0.622 NaN 0 0 0 0.001368 0 10 10 LMF1 64788 broad.mit.edu 37 16 919947 919947 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:919947C>T uc002ckj.2 - 9 1356 c.1352G>A c.(1351-1353)CGG>CAG p.R451Q LMF1_uc010brg.2_5'Flank|LMF1_uc010brh.2_Missense_Mutation_p.R234Q|LMF1_uc010bri.2_Missense_Mutation_p.R214Q|LMF1_uc002ckk.2_Missense_Mutation_p.R234Q NM_022773 NP_073610 Q96S06 LMF1_HUMAN lipase maturation factor 1 451 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 Hepatocellular(780;0.00308) GAGGCAGGGCCGTCTGCTGGG 0.672 NaN 0 0 0 0.001368 0 10 7 USP31 57478 broad.mit.edu 37 16 23116802 23116802 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:23116802C>G uc002dll.2 - 5 1049 c.1049G>C c.(1048-1050)CGG>CCG p.R350P NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 350 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) CACTGCTTCCCGAAGTCTGGC 0.468 NaN 0 0 0 0.009535 0 27 51 COG7 91949 broad.mit.edu 37 16 23445959 23445959 + Missense_Mutation SNP T T C rs140030187 TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:23445959T>C uc002dlo.2 - 5 873 c.685A>G c.(685-687)AAG>GAG p.K229E NM_153603 NP_705831 P83436 COG7_HUMAN component of oligomeric golgi complex 7 229 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 GBM - Glioblastoma multiforme(48;0.0401) CTTCTTACCTTGTGACACTTG 0.433 NaN OREG0023684 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010504 0 21 33 PLK1 5347 broad.mit.edu 37 16 23700964 23700964 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:23700964C>T uc002dlz.1 + 9 1628 c.1575C>T c.(1573-1575)CTC>CTT p.L525L NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 525 POLO box 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) TCCTGCACCTCAGCAACGGCA 0.652 NaN 0 0 0 0.003163 0 13 13 SH2B1 25970 broad.mit.edu 37 16 28878329 28878329 + Missense_Mutation SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:28878329G>T uc002dri.2 + 4 1353 c.914G>T c.(913-915)CGC>CTC p.R305L uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.R305L|SH2B1_uc002drk.2_Missense_Mutation_p.R305L|SH2B1_uc002drl.2_Missense_Mutation_p.R305L|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.R305L|SH2B1_uc002drm.2_Missense_Mutation_p.R305L NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 305 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 GGAGGAAGTCGCCTGGAGTTC 0.607 NaN 1 0 2.32416e-17 0.002299 2.61572e-17 23 25 VKORC1 79001 broad.mit.edu 37 16 31102541 31102541 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:31102541T>C uc002eas.2 - 3 632 c.406A>G c.(406-408)ATC>GTC p.I136V PRSS53_uc002eaq.2_5'Flank|PRSS53_uc002ear.2_5'UTR|VKORC1_uc002eat.2_3'UTR|VKORC1_uc002eau.2_3'UTR NM_024006 NP_076869 Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 136 Helical; (Potential). peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity 0 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) TAGGTGGTGATACAAACAATG 0.537 NaN 0 0 0 0.010729 0 12 69 CNGB1 1258 broad.mit.edu 37 16 57935276 57935276 + Missense_Mutation SNP T T A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:57935276T>A uc002emt.2 - 29 3021 c.2956A>T c.(2956-2958)AAC>TAC p.N986Y CNGB1_uc010cdh.2_Missense_Mutation_p.N980Y NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 986 Cytoplasmic (Potential).|cAMP (By similarity). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 ACATAGTCGTTGGGCAGGTAG 0.567 NaN 0 0 0 0.009535 0 29 68 RLTPR 146206 broad.mit.edu 37 16 67679643 67679643 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:67679643G>A uc002etn.2 + 3 269 c.149G>A c.(148-150)AGA>AAA p.R50K RLTPR_uc010cel.1_Missense_Mutation_p.R50K|RLTPR_uc010vjr.1_Missense_Mutation_p.R50K NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 50 breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CTACGATGGAGAGCCTACCTG 0.667 NaN 0 0 0 0.010818 0 32 29 WWP2 11060 broad.mit.edu 37 16 69959346 69959346 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:69959346C>T uc002exu.1 + 12 1282 c.1193C>T c.(1192-1194)TCG>TTG p.S398L WWP2_uc002exv.1_Missense_Mutation_p.S398L|WWP2_uc010vlm.1_Missense_Mutation_p.S282L|WWP2_uc010vln.1_Missense_Mutation_p.S16L|WWP2_uc002exw.1_5'UTR NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 398 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 TCGAGTGCTTCGACTGACCAT 0.488 NaN 0 0 0 0.00361 0 242 221 ZNF23 7571 broad.mit.edu 37 16 71483770 71483770 + Missense_Mutation SNP T T A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:71483770T>A uc002faf.2 - 6 972 c.158A>T c.(157-159)AAT>ATT p.N53I ZNF23_uc002fad.2_5'UTR|ZNF23_uc002fae.2_5'UTR|ZNF23_uc010vmf.1_5'UTR|ZNF23_uc002fag.2_5'UTR|ZNF23_uc002fah.2_Missense_Mutation_p.N53I|ZNF23_uc002fai.2_Missense_Mutation_p.N92I NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TGTCAAATCATTGTCAGTCTG 0.318 NaN 0 0 0 0.00245 0 14 36 RFWD3 55159 broad.mit.edu 37 16 74685992 74685992 + Nonsense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:74685992G>A uc002fda.2 - 3 645 c.547C>T c.(547-549)CAG>TAG p.Q183* RFWD3_uc010cgq.2_Nonsense_Mutation_p.Q183* NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 183 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 CTGCTCACCTGAAAGTAAGCA 0.413 NaN 0 0 0 0.00245 0 13 35 ZFPM1 161882 broad.mit.edu 37 16 88555534 88555534 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:88555534G>A uc002fkv.2 + 3 274 c.241G>A c.(241-243)GAG>AAG p.E81K NM_153813 NP_722520 Q8IX07 FOG1_HUMAN zinc finger protein, multitype 1 81 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0478) CACGGAGGAAGAGCCGGGCAG 0.711 NaN 0 0 0 0.004672 0 3 7 ANKRD11 29123 broad.mit.edu 37 16 89345686 89345686 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:89345686T>C uc002fmx.1 - 9 7725 c.7264A>G c.(7264-7266)ATC>GTC p.I2422V ANKRD11_uc002fmy.1_Missense_Mutation_p.I2422V|ANKRD11_uc002fnc.1_Missense_Mutation_p.I2422V|ANKRD11_uc002fna.1_Missense_Mutation_p.I87V|ANKRD11_uc002fnb.1_Missense_Mutation_p.I2379V NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2422 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TCCAGCTTGATGGCGTCCACG 0.607 NaN 0 0 0 0.001984 0 3 4 DPEP1 1800 broad.mit.edu 37 16 89702959 89702959 + Missense_Mutation SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:89702959G>T uc010cin.2 + 5 592 c.389G>T c.(388-390)CGG>CTG p.R130L DPEP1_uc002fnr.3_Missense_Mutation_p.R130L|DPEP1_uc002fns.3_Missense_Mutation_p.R130L NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 130 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) CAGGCCTTCCGGGAAGGGAAG 0.662 NaN 1 0 0.00621372 0.006214 0.00633476 9 23 MED9 55090 broad.mit.edu 37 17 17394774 17394774 + Nonsense_Mutation SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr17:17394774A>T uc002grh.1 + 2 462 c.406A>T c.(406-408)AAG>TAG p.K136* NM_018019 NP_060489 Q9NWA0 MED9_HUMAN mediator complex subunit 9 136 Potential. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding 0 GCAAAAGTACAAGAGCCTCTG 0.567 NaN 0 0 0 0.00278 0 22 66 MYO15A 51168 broad.mit.edu 37 17 18035826 18035826 + Missense_Mutation SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr17:18035826G>C uc010vxh.1 + 10 4604 c.4266G>C c.(4264-4266)CAG>CAC p.Q1422H NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1422 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TGCCTGCCCAGCTCAGGCAGG 0.582 NaN 0 0 0 0.001368 0 12 57 LASP1 3927 broad.mit.edu 37 17 37026461 37026461 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr17:37026461C>G uc002hra.2 + 1 350 c.19C>G c.(19-21)CGG>GGG p.R7G LASP1_uc010wdy.1_Missense_Mutation_p.R7G|LASP1_uc010cvq.2_5'UTR|LASP1_uc010wdz.1_5'UTR NM_006148 NP_006139 Q14847 LASP1_HUMAN LIM and SH3 protein 1 7 LIM zinc-binding. cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding lung(1) 1 CAACTGCGCCCGGTGCGGCAA 0.672 NaN T MLL AML 0 0 0 0.00499 0 15 12 KRTAP4-9 100132386 broad.mit.edu 37 17 39261768 39261768 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr17:39261768G>A uc010wfp.1 + 1 128 c.128G>A c.(127-129)AGC>AAC p.S43N NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 43 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].|4. keratin filament 0 TGCCGCCCCAGCTGTTGTGTA 0.652 NaN 0 0 0 0.006214 0 8 29 SLC4A1 6521 broad.mit.edu 37 17 42337895 42337895 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr17:42337895A>G uc002igf.3 - 6 511 c.362T>C c.(361-363)CTA>CCA p.L121P SLC4A1_uc002igg.3_Missense_Mutation_p.L121P NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 121 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TTGCAGGTCTAGGAGGACAGT 0.597 NaN 0 0 0 0.001855 0 13 47 TRIM25 7706 broad.mit.edu 37 17 54985878 54985878 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr17:54985878C>G uc002iut.2 - 2 704 c.644G>C c.(643-645)GGG>GCG p.G215A TRIM25_uc010dcj.2_Missense_Mutation_p.G7A NM_005082 NP_005073 Q14258 TRI25_HUMAN tripartite motif-containing 25 215 Interaction with influenza A virus NS1. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding lung(1)|breast(1)|skin(1) 3 Breast(9;6.15e-08) TCTCGACGCCCCGTTGATCTG 0.582 NaN 0 0 0 0.00361 0 48 69 RAD51C 5889 broad.mit.edu 37 17 56774141 56774141 + Silent SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr17:56774141T>C uc002iwu.2 + 3 534 c.492T>C c.(490-492)TTT>TTC p.F164F RAD51C_uc010woa.1_Silent_p.F164F|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_RNA NM_058216 NP_478123 O43502 RA51C_HUMAN RAD51 homolog C isoform 1 164 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGGGAAGTTTTATGGTTGATA 0.423 NaN Homologous_recombination Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2 0 0 0 0.00361 0 95 83 OTOP3 347741 broad.mit.edu 37 17 72942918 72942918 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr17:72942918T>C uc010wrr.1 + 6 968 c.968T>C c.(967-969)ATG>ACG p.M323T OTOP3_uc010wrq.1_Missense_Mutation_p.M305T NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN otopetrin 3 323 integral to membrane|intracellular zinc ion binding ovary(1) 1 all_lung(278;0.151)|Lung NSC(278;0.185) GCACCCCACATGGGTGCCCAC 0.632 NaN 0 0 0 0.00361 0 80 180 TNRC6C 57690 broad.mit.edu 37 17 76079209 76079209 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr17:76079209C>T uc002jud.2 + 12 4039 c.3439C>T c.(3439-3441)CAT>TAT p.H1147Y TNRC6C_uc002juf.2_Missense_Mutation_p.H1144Y NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 1147 gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TAATCCTCAACATATGACGAT 0.463 NaN 0 0 0 0.00361 0 49 42 ACTG1 71 broad.mit.edu 37 17 79478446 79478446 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr17:79478446C>T uc002kaj.1 - 3 595 c.570G>A c.(568-570)ATG>ATA p.M190I ACTG1_uc002kah.1_Missense_Mutation_p.M68I|ACTG1_uc002kai.1_Missense_Mutation_p.M147I|ACTG1_uc002kak.1_Missense_Mutation_p.M190I|ACTG1_uc010wun.1_Missense_Mutation_p.M190I|ACTG1_uc002kal.1_Missense_Mutation_p.M190I|ACTG1_uc002kag.2_RNA NM_001614 NP_001605 P63261 ACTG_HUMAN actin, gamma 1 propeptide 190 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) TGAGGATCTTCATGAGGTAGT 0.642 NaN 0 0 0 0.005443 0 26 59 IMPA2 3613 broad.mit.edu 37 18 11999053 11999053 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr18:11999053A>G uc002kqp.1 + 2 311 c.97A>G c.(97-99)ATC>GTC p.I33V IMPA2_uc002kqo.1_5'UTR|IMPA2_uc010dlb.1_5'UTR|IMPA2_uc002kqq.1_5'UTR NM_014214 NP_055029 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 33 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity skin(2) 2 Lithium(DB01356) TTTATTTCAGATCATCAGAAA 0.423 NaN 0 0 0 0.00361 0 56 17 ZNF521 25925 broad.mit.edu 37 18 22806433 22806433 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr18:22806433G>A uc002kvk.2 - 4 1696 c.1449C>T c.(1447-1449)TCC>TCT p.S483S ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.S483S|ZNF521_uc002kvl.2_Silent_p.S263S NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 483 C2H2-type 11. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGACAACTTCGGAACAGAAGT 0.443 NaN T PAX5 ALL 0 0 0 0.006999 0 37 64 ASXL3 80816 broad.mit.edu 37 18 31318937 31318937 + Silent SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr18:31318937A>G uc010dmg.1 + 11 1624 c.1569A>G c.(1567-1569)TCA>TCG p.S523S ASXL3_uc002kxq.2_Silent_p.S230S NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AAGGGAAGTCAGAATCACCCC 0.393 NaN 0 0 0 0.008291 0 11 10 WDR88 126248 broad.mit.edu 37 19 33663289 33663289 + Silent SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr19:33663289T>C uc002nui.2 + 10 1263 c.1185T>C c.(1183-1185)ATT>ATC p.I395I NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 395 WD 7. ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) TTGAAGAAATTGATGAAATTC 0.323 NaN 0 0 0 0.00361 0 74 35 ZNF829 374899 broad.mit.edu 37 19 37383113 37383113 + Missense_Mutation SNP T T G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr19:37383113T>G uc002ofa.1 - 6 942 c.580A>C c.(580-582)AGT>CGT p.S194R ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 194 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGCCACGACTAAAGGACTTC 0.368 NaN 0 0 0 0.00333 0 24 105 PAF1 54623 broad.mit.edu 37 19 39877398 39877398 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr19:39877398G>A uc002old.2 - 12 1203 c.1028C>T c.(1027-1029)TCA>TTA p.S343L PAF1_uc002ole.1_Missense_Mutation_p.S333L|PAF1_uc010xuv.1_RNA NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 343 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GTTGGTGCCTGACTGAACCCC 0.567 NaN 0 0 0 0.00361 0 60 230 ERCC2 2068 broad.mit.edu 37 19 45867687 45867687 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 T C T T Valid Somatic Phase_I WXS WGS Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr19:45867687T>C uc002pbj.2 - 8 760 c.713A>G c.(712-714)AAC>AGC p.N238S ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N160S|ERCC2_uc002pbk.2_Missense_Mutation_p.N214S|ERCC2_uc002pbl.3_Missense_Mutation_p.N214S|ERCC2_uc010xxj.1_Intron NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 238 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CTCACCAATGTTGTGGGCCTC 0.637 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.001855 0 11 6 PIH1D1 55011 broad.mit.edu 37 19 49950297 49950297 + Missense_Mutation SNP A A G rs17844886 TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr19:49950297A>G uc002pns.2 - 7 955 c.671T>C c.(670-672)GTT>GCT p.V224A uc002pnr.1_5'Flank NM_017916 NP_060386 Q9NWS0 PIHD1_HUMAN NOP17 224 box C/D snoRNP assembly pre-snoRNP complex 0 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) GGGGAGGTCAACTTCGGCCAA 0.592 NaN 0 0 0 0.00361 0 102 47 ZSCAN5A 79149 broad.mit.edu 37 19 56733066 56733066 + Nonsense_Mutation SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr19:56733066C>A uc002qmq.2 - 5 1535 c.1369G>T c.(1369-1371)GAG>TAG p.E457* ZSCAN5A_uc010ygi.1_Nonsense_Mutation_p.E340*|ZSCAN5A_uc002qmr.2_Nonsense_Mutation_p.E457*|ZSCAN5A_uc002qms.1_Nonsense_Mutation_p.E456* NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 457 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CGCTGGTGCTCCTTCAGGCTC 0.498 NaN 1 0 1.50039e-11 0.012319 1.64154e-11 22 90 ZNF324 25799 broad.mit.edu 37 19 58982236 58982236 + Missense_Mutation SNP G G C rs145109076 byFrequency TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr19:58982236G>C uc002qsw.1 + 4 471 c.377G>C c.(376-378)CGG>CCG p.R126P ZNF324_uc002qsx.1_5'Flank NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CAGAGACAACGGGGTGCCTCC 0.607 NaN 0 0 0 0.003954 0 17 112 KIDINS220 57498 broad.mit.edu 37 2 8919858 8919858 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:8919858G>A uc002qzc.2 - 18 2498 c.2316C>T c.(2314-2316)ATC>ATT p.I772I KIDINS220_uc010yiv.1_Silent_p.I538I|KIDINS220_uc002qzd.2_Silent_p.I730I|KIDINS220_uc010yiw.1_Silent_p.I773I NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 772 KAP NTPase.|Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ATCCATCGATGATGACCACCA 0.468 NaN 0 0 0 0.012319 0 21 36 CPSF3 51692 broad.mit.edu 37 2 9581956 9581956 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:9581956C>T uc002qzo.1 + 9 981 c.946C>T c.(946-948)CAT>TAT p.H316Y CPSF3_uc010ewx.1_Missense_Mutation_p.H316Y|CPSF3_uc002qzp.1_Missense_Mutation_p.H279Y NM_016207 NP_057291 Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 316 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding breast(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) GAGCATGGATCATTTTGATGA 0.398 NaN 0 0 0 0.006999 0 40 42 ROCK2 9475 broad.mit.edu 37 2 11367379 11367379 + Splice_Site SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:11367379C>T uc002rbd.1 - 6 1317 c.868_splice c.e6+1 p.G290_splice NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TATTTACTTACCCACTAGCAT 0.343 NaN 0 0 0 0.009535 0 32 137 NT5C1B 93034 broad.mit.edu 37 2 18764244 18764244 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:18764244G>A uc002rcz.2 - 7 1195 c.1091C>T c.(1090-1092)GCT>GTT p.A364V NT5C1B_uc002rcy.2_Missense_Mutation_p.A364V|NT5C1B_uc010exr.2_Missense_Mutation_p.A306V|NT5C1B_uc010yju.1_Missense_Mutation_p.A304V|NT5C1B_uc002rda.2_Missense_Mutation_p.A304V|NT5C1B_uc010yjv.1_Missense_Mutation_p.A381V|NT5C1B_uc010yjw.1_Missense_Mutation_p.A347V|NT5C1B_uc010exs.2_Missense_Mutation_p.A366V NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 364 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) ACGGAGTCTAGCATTGACATA 0.473 NaN 0 0 0 0.002299 0 22 36 NLRC4 58484 broad.mit.edu 37 2 32475710 32475710 + Missense_Mutation SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:32475710A>T uc002roi.2 - 4 1469 c.1223T>A c.(1222-1224)TTC>TAC p.F408Y NLRC4_uc002roj.1_Missense_Mutation_p.F408Y|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 408 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CTGCAGTTCGAAATCAAACTT 0.473 NaN 0 0 0 0.00278 0 23 9 BIRC6 57448 broad.mit.edu 37 2 32673877 32673877 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:32673877G>A uc010ezu.2 + 22 4633 c.4499G>A c.(4498-4500)AGC>AAC p.S1500N NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1500 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GGATTATATAGCTCACCATTT 0.323 NaN 0 0 0 0.003954 0 24 91 MAP4K3 8491 broad.mit.edu 37 2 39487881 39487881 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:39487881A>G uc002rro.2 - 29 2265 c.2174T>C c.(2173-2175)TTT>TCT p.F725S MAP4K3_uc002rrp.2_Missense_Mutation_p.F704S|MAP4K3_uc010yns.1_Missense_Mutation_p.F278S NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 725 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) CAGCATTTCAAACATTCTAAG 0.363 NaN 0 0 0 0.007413 0 17 45 CCDC88A 55704 broad.mit.edu 37 2 55544701 55544701 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:55544701G>A uc002ryv.2 - 20 4440 c.3598C>T c.(3598-3600)CGT>TGT p.R1200C CCDC88A_uc010yoz.1_Missense_Mutation_p.R1201C|CCDC88A_uc010ypa.1_Missense_Mutation_p.R1200C|CCDC88A_uc002ryu.2_Missense_Mutation_p.R483C|CCDC88A_uc002rys.2_Missense_Mutation_p.R186C|CCDC88A_uc002ryw.2_Missense_Mutation_p.R484C|CCDC88A_uc010fby.1_Missense_Mutation_p.R80C NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1201 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 ATAAATTACCGGTCTTCAAGG 0.303 NaN 0 0 0 0.00333 0 24 101 CTNNA2 1496 broad.mit.edu 37 2 80101245 80101245 + Missense_Mutation SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:80101245G>T uc010ysh.1 + 5 634 c.629G>T c.(628-630)CGA>CTA p.R210L CTNNA2_uc010yse.1_Missense_Mutation_p.R210L|CTNNA2_uc010ysf.1_Missense_Mutation_p.R210L|CTNNA2_uc010ysg.1_Missense_Mutation_p.R210L NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 210 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GCAGCCGCCCGAGGGGCTCTG 0.512 NaN 1 0 0.000157383 0.00308 0.000163637 8 39 IFIH1 64135 broad.mit.edu 37 2 163136571 163136571 + Missense_Mutation SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:163136571C>A uc002uce.2 - 8 1798 c.1576G>T c.(1576-1578)GAT>TAT p.D526Y NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 526 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 TTCAGTTGATCAAGGTTTTCT 0.328 NaN 1 0 2.80507e-11 0.012213 3.05831e-11 32 40 LRP2 4036 broad.mit.edu 37 2 170062610 170062610 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:170062610C>G uc002ues.2 - 40 7692 c.7479G>C c.(7477-7479)ATG>ATC p.M2493I NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2493 LDL-receptor class B 26.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CATCTTCAGCCATGGAATTAA 0.448 NaN 0 0 0 0.009718 0 42 60 GAD1 2571 broad.mit.edu 37 2 171700564 171700564 + Nonsense_Mutation SNP T T A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:171700564T>A uc002ugi.2 + 7 1070 c.648T>A c.(646-648)TAT>TAA p.Y216* NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 216 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGTTTACATATGAAATTGCAC 0.353 NaN 0 0 0 0.00245 0 14 33 TTN 7273 broad.mit.edu 37 2 179566962 179566962 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:179566962C>T uc010zfg.1 - 105 26936 c.26712G>A c.(26710-26712)TCG>TCA p.S8904S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S5565S|TTN_uc010fre.1_Silent_p.S15S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9831 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGCGATGACCGAGTAGACAC 0.448 NaN 0 0 0 0.00308 0 6 21 NIF3L1 60491 broad.mit.edu 37 2 201760010 201760010 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:201760010G>A uc002uwm.2 + 4 714 c.623G>A c.(622-624)CGG>CAG p.R208Q NIF3L1_uc002uwl.2_Missense_Mutation_p.R181Q|NIF3L1_uc002uwn.2_Missense_Mutation_p.R181Q|NIF3L1_uc002uwo.2_Missense_Mutation_p.R208Q|NIF3L1_uc002uwp.2_Missense_Mutation_p.R208Q|NIF3L1_uc002uwq.2_Missense_Mutation_p.R208Q NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 208 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 GAACAAACACGGATTAATCTG 0.383 NaN 0 0 0 0.008871 0 18 155 UGT1A1 54658 broad.mit.edu 37 2 234669219 234669219 + Missense_Mutation SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:234669219G>C uc002vvb.2 + 1 301 c.286G>C c.(286-288)GGG>CGG p.G96R UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.G96R NM_000463 NP_000454 P22309 UD11_HUMAN UDP glycosyltransferase 1 family, polypeptide A1 96 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding central_nervous_system(1)|skin(1) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TGTTAGTCTCGGGCATAATGT 0.428 NaN 0 0 0 0.00361 0 67 137 UGT1A1 54658 broad.mit.edu 37 2 234669236 234669236 + Missense_Mutation SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:234669236G>T uc002vvb.2 + 1 318 c.303G>T c.(301-303)GAG>GAT p.E101D UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.E101D NM_000463 NP_000454 P22309 UD11_HUMAN UDP glycosyltransferase 1 family, polypeptide A1 101 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding central_nervous_system(1)|skin(1) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) ATGTTTTTGAGAATGATTCTT 0.423 NaN 1 0 1.7318e-42 0.00361 1.96312e-42 98 83 TGM3 7053 broad.mit.edu 37 20 2315885 2315885 + Missense_Mutation SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr20:2315885A>T uc002wfx.3 + 11 1863 c.1766A>T c.(1765-1767)GAC>GTC p.D589V NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 589 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) GTGGAGCGGGACATCATCCTG 0.602 NaN 0 0 0 0.004482 0 8 64 ZNFX1 57169 broad.mit.edu 37 20 47888256 47888256 + Silent SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr20:47888256A>G uc002xui.2 - 3 340 c.93T>C c.(91-93)GCT>GCC p.A31A NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 31 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCTGATTTCTAGCTCTTGGTG 0.507 NaN 0 0 0 0.008361 0 29 37 ZNF217 7764 broad.mit.edu 37 20 52192283 52192283 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr20:52192283G>A uc002xwq.3 - 3 3291 c.3020C>T c.(3019-3021)TCC>TTC p.S1007F ZNF217_uc010gij.1_Missense_Mutation_p.S999F NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 1007 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CGTCGAGCTGGATGCTGGACT 0.448 NaN 0 0 0 0.003163 0 16 36 PPP1R3D 5509 broad.mit.edu 37 20 58514308 58514308 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr20:58514308C>T uc002ybb.2 - 1 1045 c.679G>A c.(679-681)GCA>ACA p.A227T C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 227 CBM21. glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) TCGGGGCCTGCGGGCCCGCGC 0.692 NaN 0 0 0 0.003163 0 12 34 ADRM1 11047 broad.mit.edu 37 20 60883123 60883123 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr20:60883123C>T uc002ycn.2 + 8 983 c.903C>T c.(901-903)CTC>CTT p.L301L ADRM1_uc002yco.2_Silent_p.L301L NM_007002 NP_008933 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 precursor 301 proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding 0 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) CTCCCATCCTCGCCAACGCGG 0.627 NaN 0 0 0 0.004482 0 9 11 C20orf20 55257 broad.mit.edu 37 20 61428545 61428545 + Missense_Mutation SNP T T G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr20:61428545T>G uc002ydi.2 + 2 303 c.232T>G c.(232-234)TGG>GGG p.W78G NM_018270 NP_060740 Q9NV56 MRGBP_HUMAN MRG-binding protein 78 chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent H4/H2A histone acetyltransferase complex 0 Breast(26;3.65e-08) CAAGGTCATCTGGGACCATCT 0.622 NaN 0 0 0 0.008291 0 9 46 CRYZL1 9946 broad.mit.edu 37 21 34994369 34994369 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr21:34994369C>T uc011adw.1 - 4 330 c.150G>A c.(148-150)CTG>CTA p.L50L DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Silent_p.L74L|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Silent_p.L50L NM_145858 NP_665857 O95825 QORL1_HUMAN crystallin, zeta-like 1 50 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding 0 TCATTTCTGCCAGAAGCTAAA 0.338 NaN 0 0 0 0.00361 0 50 90 B3GALT5 10317 broad.mit.edu 37 21 41032664 41032664 + Missense_Mutation SNP G G C rs146778477 TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr21:41032664G>C uc002yyb.1 + 5 770 c.178G>C c.(178-180)GTC>CTC p.V60L B3GALT5_uc002yye.2_Missense_Mutation_p.V60L|B3GALT5_uc002yyi.1_Missense_Mutation_p.V60L|B3GALT5_uc002yyj.1_Missense_Mutation_p.V60L|B3GALT5_uc002yyk.1_Missense_Mutation_p.V60L|B3GALT5_uc002yyl.1_Missense_Mutation_p.V60L|B3GALT5_uc002yym.1_Missense_Mutation_p.V60L NM_033173 NP_149363 Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 60 Lumenal (Potential). protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity skin(1) 1 Prostate(19;2.55e-06) TCCCTTCCTCGTCCTGCTGGT 0.522 NaN 0 0 0 0.010729 0 12 113 ARVCF 421 broad.mit.edu 37 22 19961220 19961220 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr22:19961220C>T uc002zqz.2 - 13 2456 c.2185G>A c.(2185-2187)GTC>ATC p.V729I ARVCF_uc002zqy.2_Missense_Mutation_p.V245I NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 729 ARM 8. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) GCGATGGCGACGGCGCGCACC 0.662 NaN 0 0 0 0.010504 0 20 150 MYH9 4627 broad.mit.edu 37 22 36697582 36697582 + Nonsense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr22:36697582G>A uc003apg.2 - 21 2860 c.2629C>T c.(2629-2631)CAG>TAG p.Q877* MYH9_uc003aph.1_Nonsense_Mutation_p.Q741* NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 877 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 ACACCCACCTGAGACTGCAGC 0.607 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated OREG0026520 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.005443 0 22 56 EP300 2033 broad.mit.edu 37 22 41553195 41553195 + Missense_Mutation SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 G T G G Valid Somatic Phase_I WXS WGS Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr22:41553195G>T uc003azl.3 + 18 3679 c.3284G>T c.(3283-3285)AGC>ATC p.S1095I NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1095 Bromo. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ATTGTGAAGAGCCCCATGGAT 0.393 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 1 0 2.94398e-08 0.007413 3.17667e-08 19 29 POLR3H 171568 broad.mit.edu 37 22 41928097 41928097 + Splice_Site SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr22:41928097C>A uc003baf.2 - 5 419 c.359_splice c.e5+1 p.F120_splice POLR3H_uc003bae.2_Splice_Site|POLR3H_uc003bag.2_Splice_Site_p.F120_splice|POLR3H_uc003bai.2_Splice_Site_p.F91_splice NM_138338 NP_612211 Q9Y535 RPC8_HUMAN polymerase (RNA) III (DNA directed) polypeptide innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity skin(1) 1 TTGGAGGATACAACTTGGCTG 0.557 NaN 1 0 1.04121e-07 0.005443 1.11584e-07 22 28 PMM1 5372 broad.mit.edu 37 22 41980552 41980552 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr22:41980552G>A uc003bal.2 - 3 323 c.261C>T c.(259-261)CAC>CAT p.H87H NM_002676 NP_002667 Q92871 PMM1_HUMAN phosphomannomutase 1 87 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity ovary(1) 1 GCAGTCGTCCGTGCTTATACT 0.552 NaN 0 0 0 0.00361 0 51 36 MOV10L1 54456 broad.mit.edu 37 22 50563824 50563824 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr22:50563824C>T uc003bjj.2 + 11 1656 c.1573C>T c.(1573-1575)CTG>TTG p.L525L MOV10L1_uc003bjk.3_Silent_p.L525L|MOV10L1_uc011arp.1_Silent_p.L505L|MOV10L1_uc011arq.1_Silent_p.L286L|MOV10L1_uc010hao.1_RNA NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 525 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TTTCCAGCTTCTGAACATGTC 0.438 NaN 0 0 0 0.004878 0 34 11 TMEM111 55831 broad.mit.edu 37 3 10012301 10012301 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:10012301C>G uc003bun.2 - 6 718 c.539G>C c.(538-540)CGG>CCG p.R180P CIDEC_uc003bto.2_Intron|TMEM111_uc003buo.2_Missense_Mutation_p.R180P NM_018447 NP_060917 Q9P0I2 TM111_HUMAN transmembrane protein 111 180 integral to membrane 0 GTAAATGCTCCGAAGCCCAAA 0.403 NaN 0 0 0 0.00361 0 206 82 NR2C2 7182 broad.mit.edu 37 3 15062406 15062406 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:15062406A>G uc003bzj.3 + 5 740 c.523A>G c.(523-525)AAA>GAA p.K175E NR2C2_uc003bzi.2_Missense_Mutation_p.K194E NM_003298 NP_003289 P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 175 NR C4-type.|Nuclear receptor. cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 TTGCCGGCTGAAAAAATGCTT 0.408 NaN 0 0 0 0.00499 0 14 44 ANKRD28 23243 broad.mit.edu 37 3 15762530 15762530 + Missense_Mutation SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:15762530A>T uc003caj.1 - 8 941 c.798T>A c.(796-798)AAT>AAA p.N266K ANKRD28_uc003cai.1_Missense_Mutation_p.N112K|ANKRD28_uc011avz.1_Missense_Mutation_p.N112K|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.N296K|ANKRD28_uc003cam.2_Missense_Mutation_p.N299K NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 266 ANK 7. nucleoplasm protein binding breast(1) 1 CATTCTTTTGATTCACAATAG 0.403 NaN 0 0 0 0.00361 0 94 212 KCNH8 131096 broad.mit.edu 37 3 19575409 19575409 + Missense_Mutation SNP A A C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:19575409A>C uc003cbk.1 + 16 3337 c.3142A>C c.(3142-3144)AGC>CGC p.S1048R KCNH8_uc010hex.1_Missense_Mutation_p.S509R NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 1048 Ser-rich.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 AGTTCTCCCAAGCAGATCAGA 0.488 NaN 0 0 0 0.00361 0 56 56 EXOG 9941 broad.mit.edu 37 3 38537926 38537926 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:38537926G>A uc003cih.2 + 1 164 c.68G>A c.(67-69)GGG>GAG p.G23E EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Missense_Mutation_p.G23E|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR NM_005107 NP_005098 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 23 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding 0 TTCGTGGCTGGGGCTGTAGTG 0.652 NaN OREG0015479 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 3 12 NKTR 4820 broad.mit.edu 37 3 42687412 42687412 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:42687412G>A uc003clo.2 + 17 4481 c.4334G>A c.(4333-4335)AGT>AAT p.S1445N NKTR_uc003clp.2_Missense_Mutation_p.S1193N|NKTR_uc011azp.1_Missense_Mutation_p.V256M|NKTR_uc003cls.2_Missense_Mutation_p.S1145N NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1445 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) GACAGTGAAAGTGACCGAAGT 0.353 NaN 0 0 0 0.006214 0 9 19 SETD2 29072 broad.mit.edu 37 3 47125299 47125299 + Nonsense_Mutation SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 C A C C Valid Somatic Phase_I WXS RNASeq;WGS Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:47125299C>A uc003cqs.2 - 12 6024 c.5971G>T c.(5971-5973)GAG>TAG p.E1991* SETD2_uc003cqv.2_Nonsense_Mutation_p.E2058*|SETD2_uc003cqt.1_RNA NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1991 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTTTCACTCTCCACATCAGAC 0.448 NaN N|F|S|Mis clear cell renal carcinoma 1 0 4.09166e-32 0.00361 4.62151e-32 70 80 CCDC51 79714 broad.mit.edu 37 3 48474335 48474335 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:48474335C>T uc003csz.2 - 4 840 c.719G>A c.(718-720)GGG>GAG p.G240E PLXNB1_uc003csx.2_5'Flank|CCDC51_uc003cta.2_Missense_Mutation_p.G131E|CCDC51_uc003ctb.2_Missense_Mutation_p.G131E|CCDC51_uc003ctc.2_Missense_Mutation_p.G240E|CCDC51_uc003ctd.2_Missense_Mutation_p.G131E NM_024661 NP_078937 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 240 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ACTCACAGGCCCCTTCTGCGC 0.602 NaN 0 0 0 0.009718 0 39 42 WDR6 11180 broad.mit.edu 37 3 49051674 49051674 + Nonsense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:49051674C>T uc003cvj.2 + 3 2842 c.2704C>T c.(2704-2706)CAG>TAG p.Q902* WDR6_uc011bby.1_Nonsense_Mutation_p.Q350*|WDR6_uc010hkn.2_Nonsense_Mutation_p.Q846*|WDR6_uc011bbz.1_Nonsense_Mutation_p.Q821* NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 872 WD 13. cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TGAACTTGACCAGCCCGGCCT 0.582 NaN OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 6 30 USP19 10869 broad.mit.edu 37 3 49153998 49153998 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:49153998G>A uc003cwd.1 - 7 1027 c.866C>T c.(865-867)TCG>TTG p.S289L USP19_uc003cwa.2_Missense_Mutation_p.S95L|USP19_uc003cvz.3_Missense_Mutation_p.S390L|USP19_uc011bcg.1_Missense_Mutation_p.S380L|USP19_uc003cwb.2_Missense_Mutation_p.S375L|USP19_uc003cwc.1_Missense_Mutation_p.S45L|USP19_uc011bch.1_Missense_Mutation_p.S390L|USP19_uc011bci.1_Missense_Mutation_p.S375L NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 289 CS 2.|Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTTCTCATACGAGTCATTCTT 0.537 NaN 0 0 0 0.010771 0 42 50 MST1R 4486 broad.mit.edu 37 3 49929204 49929204 + Missense_Mutation SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:49929204G>C uc003cxy.3 - 15 3603 c.3339C>G c.(3337-3339)ATC>ATG p.I1113M MST1R_uc011bdc.1_Translation_Start_Site NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1113 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TTAGTGACTTGATGGCACATT 0.517 NaN 0 0 0 0.00361 0 84 79 ITIH3 3699 broad.mit.edu 37 3 52835110 52835110 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:52835110A>G uc003dfv.2 + 11 1367 c.1331A>G c.(1330-1332)CAT>CGT p.H444R ITIH3_uc011bek.1_Missense_Mutation_p.H444R NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 444 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CTGGAGAACCATGGGTTTGCC 0.393 NaN 0 0 0 0.008871 0 21 21 CACNA2D3 55799 broad.mit.edu 37 3 54420796 54420796 + Missense_Mutation SNP T T A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:54420796T>A uc003dhf.2 + 4 424 c.376T>A c.(376-378)TTA>ATA p.L126I CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.L32I|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 126 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TGATGCAGACTTACAGGTAAC 0.368 NaN 0 0 0 0.009096 0 3 9 WNT5A 7474 broad.mit.edu 37 3 55504170 55504170 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:55504170C>G uc003dhn.2 - 5 1411 c.1093G>C c.(1093-1095)GTC>CTC p.V365L WNT5A_uc003dhm.2_Missense_Mutation_p.V350L|WNT5A_uc010hmw.2_Missense_Mutation_p.V350L|WNT5A_uc010hmx.2_Missense_Mutation_p.V276L NM_003392 NP_003383 P41221 WNT5A_HUMAN wingless-type MMTV integration site family, 365 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) TTGCACTTGACGTAGCAGCAC 0.592 NaN 0 0 0 0.007291 0 22 30 KIAA1524 57650 broad.mit.edu 37 3 108273235 108273235 + Missense_Mutation SNP T T A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:108273235T>A uc003dxb.3 - 18 2581 c.2312A>T c.(2311-2313)GAA>GTA p.E771V NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 771 Potential. cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 TTCATTTTGTTCCTTGAGTGA 0.269 NaN 0 0 0 0.001984 0 5 12 CASR 846 broad.mit.edu 37 3 121994736 121994736 + Silent SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:121994736G>C uc003eev.3 + 5 1827 c.1455G>C c.(1453-1455)CTG>CTC p.L485L CASR_uc003eew.3_Silent_p.L485L NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 485 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GTGGTGACCTGGTGGGGAACT 0.488 NaN 0 0 0 0.00361 0 63 96 ADCY5 111 broad.mit.edu 37 3 123046525 123046525 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:123046525G>A uc003egh.1 - 7 1887 c.1887C>T c.(1885-1887)AAC>AAT p.N629N ADCY5_uc003egg.1_Silent_p.N262N|ADCY5_uc003egi.1_Silent_p.N188N NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 629 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) TGAGGTAGGCGTTGCGCTCGC 0.642 NaN 0 0 0 0.00308 0 8 33 STAG1 10274 broad.mit.edu 37 3 136287647 136287647 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:136287647C>T uc003era.1 - 5 646 c.354G>A c.(352-354)CTG>CTA p.L118L STAG1_uc003erb.1_Silent_p.L118L|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003erd.2_Silent_p.L21L|STAG1_uc003ere.2_Silent_p.L118L NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 118 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 TGATTAAATCCAGAAGTGCGA 0.353 NaN 0 0 0 0.004007 0 14 44 MRPS22 56945 broad.mit.edu 37 3 139065815 139065815 + Missense_Mutation SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:139065815A>T uc003etb.2 + 2 276 c.268A>T c.(268-270)ACT>TCT p.T90S MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.T89S|MRPS22_uc003ete.2_Missense_Mutation_p.T49S NM_020191 NP_064576 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 90 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(2)|skin(1) 3 CTTGCAGAAGACTTTTAAGCC 0.413 NaN 0 0 0 0.00361 0 55 70 TFDP2 7029 broad.mit.edu 37 3 141671502 141671502 + Silent SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:141671502G>C uc003eun.3 - 13 1573 c.1194C>G c.(1192-1194)GCC>GCG p.A398A TFDP2_uc003euk.3_Silent_p.A311A|TFDP2_uc010hur.2_Silent_p.A338A|TFDP2_uc003eul.3_Silent_p.A338A|TFDP2_uc011bnf.1_Silent_p.A301A|TFDP2_uc011bng.1_Silent_p.A262A|TFDP2_uc003eum.3_Silent_p.A338A NM_006286 NP_006277 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization 398 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1) 1 CAGTTGCTAAGGCCACTTCTG 0.493 NaN 0 0 0 0.002836 0 32 42 TRPC1 7220 broad.mit.edu 37 3 142499680 142499680 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:142499680G>A uc003evc.2 + 6 905 c.769G>A c.(769-771)GAT>AAT p.D257N TRPC1_uc003evb.2_Missense_Mutation_p.D223N NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 257 Cytoplasmic (Potential). axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 TTATAGGAATGATTATGAGGA 0.343 NaN 0 0 0 0.003163 0 15 61 P2RY13 53829 broad.mit.edu 37 3 151046556 151046556 + Silent SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:151046556A>G uc003eyv.2 - 2 309 c.288T>C c.(286-288)CTT>CTC p.L96L MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 96 Helical; Name=2; (Potential). integral to membrane|plasma membrane ovary(3)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) TTTTGAAAGGAAGCATGAGTG 0.468 NaN 0 0 0 0.012213 0 34 55 GP5 2814 broad.mit.edu 37 3 194117570 194117570 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr3:194117570C>T uc003ftv.1 - 2 1473 c.1442G>A c.(1441-1443)CGC>CAC p.R481H NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 481 Extracellular (Potential). blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CGCAgcggggcggggaggcgg 0.612 NaN 0 0 0 0.008361 0 32 36 DRD5 1816 broad.mit.edu 37 4 9784901 9784901 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr4:9784901C>T uc003gmb.3 + 1 1644 c.1248C>T c.(1246-1248)AAC>AAT p.N416N NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 416 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGATGCCCAACGCCGTTACCC 0.562 NaN 0 0 0 0.002299 0 20 42 PHOX2B 8929 broad.mit.edu 37 4 41748140 41748140 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr4:41748140G>A uc003gwf.3 - 3 989 c.629C>T c.(628-630)GCG>GTG p.A210V NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 210 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 gccTCCATTCGCCCCGCAGCT 0.408 NaN Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 0 0 0 0.001984 0 7 16 NMU 10874 broad.mit.edu 37 4 56471508 56471508 + Silent SNP A A C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr4:56471508A>C uc003hbc.2 - 7 475 c.369T>G c.(367-369)GTT>GTG p.V123V NMU_uc003hbd.1_Intron|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Silent_p.V38V|NMU_uc010igx.1_Intron NM_006681 NP_006672 P48645 NMU_HUMAN neuromedin U precursor 123 neuropeptide signaling pathway extracellular region 0 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) ACGGATGCACAACTGACGACT 0.463 NaN 0 0 0 0.008361 0 29 27 PDE5A 8654 broad.mit.edu 37 4 120484008 120484008 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr4:120484008T>C uc003idh.2 - 6 1266 c.1111A>G c.(1111-1113)ATA>GTA p.I371V PDE5A_uc003idf.2_Missense_Mutation_p.I329V|PDE5A_uc003idg.2_Missense_Mutation_p.I319V NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 371 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) TCATCCACTATGAAAATGGTG 0.299 NaN 0 0 0 0.005443 0 23 64 C4orf31 79625 broad.mit.edu 37 4 121958158 121958158 + Missense_Mutation SNP A A C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr4:121958158A>C uc003idq.1 - 4 1495 c.968T>G c.(967-969)ATG>AGG p.M323R NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 323 Fibronectin type-III 1. 0 AGCGGTGCTCATGTTGCTGTT 0.418 NaN 0 0 0 0.00632 0 29 46 PCDH10 57575 broad.mit.edu 37 4 134071562 134071562 + Silent SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr4:134071562C>A uc003iha.2 + 1 1093 c.267C>A c.(265-267)CCC>CCA p.P89P uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.P89P NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 89 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AACAGAGCCCCTCCTGTGTCC 0.547 NaN 1 0 5.35047e-06 0.00333 5.60016e-06 25 42 USP38 84640 broad.mit.edu 37 4 144127185 144127185 + Splice_Site SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr4:144127185G>A uc003ijb.2 + 6 1744 c.1210_splice c.e6-1 p.D404_splice USP38_uc003ija.3_Splice_Site_p.D404_splice|USP38_uc003ijc.2_Splice_Site NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) ATGACCTATAGGATTTTCCTA 0.308 NaN 0 0 0 0.010504 0 20 29 NPY5R 4889 broad.mit.edu 37 4 164271624 164271624 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr4:164271624A>G uc003iqn.2 + 4 381 c.199A>G c.(199-201)ATG>GTG p.M67V NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 67 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) AATGGCTCTCATGAAAAAGCG 0.383 NaN 0 0 0 0.00361 0 56 129 ADCY2 108 broad.mit.edu 37 5 7817004 7817004 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:7817004T>C uc003jdz.1 + 23 2976 c.2909T>C c.(2908-2910)ATT>ACT p.I970T ADCY2_uc011cmo.1_Missense_Mutation_p.I790T|ADCY2_uc010itm.1_Missense_Mutation_p.I166T NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 970 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TACATGCACATTGGCACCATG 0.517 NaN OREG0016499 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.002299 0 21 57 TRIO 7204 broad.mit.edu 37 5 14492807 14492807 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:14492807G>A uc003jff.2 + 49 7770 c.7764G>A c.(7762-7764)ATG>ATA p.M2588I TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2588 SH3 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) AGCAGAACATGTTTCTGGTGT 0.562 NaN 0 0 0 0.001168 0 5 24 ADAMTS12 81792 broad.mit.edu 37 5 33576343 33576343 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:33576343G>A uc003jia.1 - 19 3951 c.3788C>T c.(3787-3789)ACG>ATG p.T1263M ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1178M NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1263 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 ACGGTTTGCCGTCTTTCCTGA 0.502 NaN HNSCC(64;0.19) 0 0 0 0.00361 0 48 92 NIPBL 25836 broad.mit.edu 37 5 36976326 36976326 + Missense_Mutation SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:36976326G>C uc003jkl.3 + 9 1816 c.1317G>C c.(1315-1317)CAG>CAC p.Q439H NIPBL_uc003jkk.3_Missense_Mutation_p.Q439H|NIPBL_uc003jkm.1_Missense_Mutation_p.Q318H NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 439 Gln-rich. brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTTTACAACAGAACACTTCAG 0.423 NaN 0 0 0 0.010504 0 22 46 MAP3K1 4214 broad.mit.edu 37 5 56152428 56152428 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:56152428C>T uc003jqw.3 + 2 985 c.484C>T c.(484-486)CGT>TGT p.R162C NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 162 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GCATTTTAGTCGTGAGATGGA 0.373 NaN 0 0 0 0.008291 0 11 12 TNPO1 3842 broad.mit.edu 37 5 72144225 72144225 + Missense_Mutation SNP A A C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:72144225A>C uc003kck.3 + 2 176 c.29A>C c.(28-30)GAG>GCG p.E10A TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.E10A|TNPO1_uc003kch.2_Missense_Mutation_p.E2A|TNPO1_uc003kci.3_Missense_Mutation_p.E2A|TNPO1_uc003kcg.3_Missense_Mutation_p.E2A NM_002270 NP_002261 Q92973 TNPO1_HUMAN transportin 1 isoform 1 10 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1) 7 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) ACCAAGATGGAGTATGAGTGG 0.562 NaN 0 0 0 0.007413 0 19 5 WDR36 134430 broad.mit.edu 37 5 110459882 110459882 + Missense_Mutation SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:110459882A>T uc003kpd.2 + 21 2630 c.2513A>T c.(2512-2514)AAT>ATT p.N838I WDR36_uc010jbu.2_Intron NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 838 response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) CTGGTAAATAATAAGTGTAAG 0.279 NaN 0 0 0 0.004007 0 14 77 SEMA6A 57556 broad.mit.edu 37 5 115833065 115833065 + Silent SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:115833065A>T uc010jck.2 - 4 946 c.237T>A c.(235-237)GTT>GTA p.V79V SEMA6A_uc003krx.3_Silent_p.V79V NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 79 Sema.|Extracellular (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGTCTATATCAACAGTATAAA 0.303 NaN 0 0 0 0.001168 0 5 53 HSD17B4 3295 broad.mit.edu 37 5 118865646 118865646 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:118865646T>C uc003ksj.2 + 21 1948 c.1825T>C c.(1825-1827)TCT>CCT p.S609P HSD17B4_uc011cwg.1_Missense_Mutation_p.S585P|HSD17B4_uc011cwh.1_Missense_Mutation_p.S591P|HSD17B4_uc011cwi.1_Missense_Mutation_p.S634P|HSD17B4_uc003ksk.3_Missense_Mutation_p.S462P|HSD17B4_uc011cwj.1_Missense_Mutation_p.S462P|HSD17B4_uc010jcn.1_Missense_Mutation_p.S347P|HSD17B4_uc010jco.1_Silent_p.H77H NM_000414 NP_000405 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 609 Enoyl-CoA hydratase 2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity ovary(1)|pancreas(1) 2 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) TGCACCAACATCTGGTACTTC 0.363 NaN 0 0 0 0.012319 0 22 128 MATR3 9782 broad.mit.edu 37 5 138654644 138654644 + Silent SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:138654644T>C uc003ldu.2 + 11 1783 c.1356T>C c.(1354-1356)GAT>GAC p.D452D MATR3_uc010jfb.2_Silent_p.D452D|MATR3_uc003ldt.2_Silent_p.D114D|MATR3_uc003ldw.2_Silent_p.D452D|MATR3_uc003ldx.2_Silent_p.D452D|MATR3_uc010jfc.2_Silent_p.D452D|MATR3_uc003ldy.2_Silent_p.D129D|MATR3_uc011czb.1_Silent_p.D164D|MATR3_uc003ldz.2_Silent_p.D452D|MATR3_uc003lea.2_Silent_p.D452D|MATR3_uc003leb.2_Silent_p.D114D|MATR3_uc003lec.2_Silent_p.D129D NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 452 RRM 1. nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCGCAGTGGATTATTACACAA 0.363 NaN 0 0 0 0.00245 0 15 36 C5orf53 492311 broad.mit.edu 37 5 139508200 139508200 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:139508200G>A uc003lfb.1 + 1 2680 c.139G>A c.(139-141)GAG>AAG p.E47K NM_001007189 NP_001007190 A6NJ69 IGIP_HUMAN IgA-inducing protein precursor 47 extracellular region 0 CAGCCGGCTTGAGTTTGTTCA 0.393 NaN 0 0 0 0.010504 0 21 67 PCDHA4 56144 broad.mit.edu 37 5 140186836 140186836 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:140186836G>A uc003lhi.2 + 1 165 c.64G>A c.(64-66)GCA>ACA p.A22T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A22T|PCDHA4_uc011daa.1_Missense_Mutation_p.A22T NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 22 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCTCCTCGCAGCCTGGGA 0.572 NaN 0 0 0 0.009535 0 31 96 KCTD16 57528 broad.mit.edu 37 5 143586786 143586786 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:143586786A>G uc003lnm.1 + 3 1138 c.509A>G c.(508-510)TAC>TGC p.Y170C KCTD16_uc003lnn.1_Missense_Mutation_p.Y170C NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 170 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) ACTGTGGGTTACAGAGGATCC 0.537 NaN 0 0 0 0.003755 0 36 28 NSD1 64324 broad.mit.edu 37 5 176707662 176707662 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 A G A A Valid Somatic Phase_I WXS WGS Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:176707662A>G uc003mfr.3 + 18 5857 c.5719A>G c.(5719-5721)ATA>GTA p.I1907V NSD1_uc003mft.3_Missense_Mutation_p.I1638V|NSD1_uc003mfs.1_Missense_Mutation_p.I1804V|NSD1_uc011dfx.1_Missense_Mutation_p.I1555V NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1907 AWS. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CCCCTGTGGGATAGACTCTGA 0.522 NaN T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 0 0 0 0.003271 0 35 37 B4GALT7 11285 broad.mit.edu 37 5 177034458 177034458 + Missense_Mutation SNP T T G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:177034458T>G uc003mhy.2 + 3 609 c.569T>G c.(568-570)CTC>CGC p.L190R B4GALT7_uc003mhz.2_Missense_Mutation_p.L76R NM_007255 NP_009186 Q9UBV7 B4GT7_HUMAN xylosylprotein beta 1,4-galactosyltransferase 7 190 Lumenal (Potential). fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process Golgi cisterna membrane|integral to membrane metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity pancreas(1) 1 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCCCGGAGCTCCACCCTCTC 0.617 NaN OREG0017092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 8 27 HNRNPAB 3182 broad.mit.edu 37 5 177637274 177637274 + Splice_Site SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:177637274G>A uc003miu.2 + 7 1185 c.928_splice c.e7+1 p.S310_splice HNRNPAB_uc003miv.2_Intron|HNRNPAB_uc010jks.2_Intron|HNRNPAB_uc003miw.2_Splice_Site_p.S310_splice|HNRNPAB_uc003mix.2_Intron|AGXT2L2_uc003miy.2_Intron|AGXT2L2_uc003mjc.2_Intron|AGXT2L2_uc003miz.2_Intron|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Intron NM_031266 NP_112556 Q99729 ROAA_HUMAN heterogeneous nuclear ribonucleoprotein A/B epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding 0 TACGACTACAGTAAGTAGGAG 0.567 NaN 0 0 0 0.001368 0 10 6 HIST1H3A 8350 broad.mit.edu 37 6 26020953 26020953 + Missense_Mutation SNP T T G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:26020953T>G uc003nfp.1 + 1 236 c.236T>G c.(235-237)TTT>TGT p.F79C HIST1H1A_uc003nfo.2_5'Flank|HIST1H4A_uc003nfq.2_5'Flank NM_003529 NP_003520 P68431 H31_HUMAN histone cluster 1, H3a 79 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1)|pancreas(1) 2 GCGCAGGACTTTAAAACAGAC 0.562 NaN 0 0 0 0.006122 0 13 25 SLC44A4 80736 broad.mit.edu 37 6 31831441 31831441 + Missense_Mutation SNP T T A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:31831441T>A uc010jti.2 - 21 2162 c.2096A>T c.(2095-2097)AAC>ATC p.N699I NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 699 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) GGGCGCCTCGTTCTTCTTGCC 0.597 NaN 0 0 0 0.003163 0 15 22 CFB 629 broad.mit.edu 37 6 31919363 31919363 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:31919363G>A uc003nyj.3 + 17 2399 c.2121G>A c.(2119-2121)AAG>AAA p.K707K CFB_uc011dor.1_Silent_p.K1209K NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein 707 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 TAGTTCACAAGAGAAGTCGTT 0.512 NaN 0 0 0 0.00361 0 65 164 PSMB8 5696 broad.mit.edu 37 6 32808759 32808759 + Nonsense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:32808759G>A uc003oce.2 - 6 851 c.808C>T c.(808-810)CAG>TAG p.Q270* TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003occ.2_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Nonsense_Mutation_p.Q266* NM_148919 NP_683720 P28062 PSB8_HUMAN proteasome beta 8 subunit isoform E2 proprotein 270 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity skin(1) 1 TCCCGGTACTGGTGCAGCAGG 0.512 NaN 0 0 0 0.00361 0 49 48 BRD2 6046 broad.mit.edu 37 6 32945996 32945996 + Silent SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:32945996C>A uc003ocn.3 + 10 3373 c.1672C>A c.(1672-1674)CGG>AGG p.R558R BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.R558R|BRD2_uc003ocp.3_Silent_p.R438R|BRD2_uc010juh.2_Silent_p.R558R NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 558 Poly-Lys.|Nuclear localization signal (Potential).|Arg/Lys-rich (highly basic). R -> G (in a gastric adenocarcinoma sample; somatic mutation). spermatogenesis nucleus protein serine/threonine kinase activity p.R558G(1) central_nervous_system(3)|stomach(2) 5 AAAGAAGAAACGGAAGGCAGA 0.527 NaN 1 0 1.08611e-07 0.010729 1.15606e-07 12 63 B3GALT4 8705 broad.mit.edu 37 6 33245680 33245680 + Nonsense_Mutation SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:33245680G>T uc003odr.2 + 1 764 c.484G>T c.(484-486)GAG>TAG p.E162* NM_003782 NP_003773 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 162 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1)|breast(1) 2 GAACTGGGCTGAGAAACACTG 0.607 NaN 1 0 4.26978e-12 0.00333 4.72081e-12 25 77 MDFI 4188 broad.mit.edu 37 6 41621154 41621154 + Silent SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:41621154G>C uc003oqp.3 + 6 911 c.582G>C c.(580-582)TCG>TCC p.S194S MDFI_uc003oqq.3_Silent_p.S194S|MDFI_uc010jxn.2_Silent_p.S194S NM_005586 NP_005577 Q99750 MDFI_HUMAN MyoD family inhibitor 194 Cys-rich. cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus 0 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) CCTGCAGCTCGGAGGACTCGT 0.647 NaN 0 0 0 0.00499 0 9 14 C6orf223 221416 broad.mit.edu 37 6 43970834 43970834 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:43970834C>T uc003own.2 + 4 718 c.700C>T c.(700-702)CGC>TGC p.R234C uc003owm.1_Intron|C6orf223_uc003owo.2_Missense_Mutation_p.R214C NM_153246 NP_694978 Q8N319 CF223_HUMAN hypothetical protein LOC221416 234 0 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) CGCGGCGCTCCGCGGCGCTGG 0.667 NaN 0 0 0 0.004482 0 5 9 DST 667 broad.mit.edu 37 6 56325021 56325021 + Missense_Mutation SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:56325021A>T uc003pdf.2 - 96 16701 c.16673T>A c.(16672-16674)CTT>CAT p.L5558H DST_uc003pcz.3_Missense_Mutation_p.L5380H|DST_uc011dxj.1_Missense_Mutation_p.L5409H|DST_uc011dxk.1_Missense_Mutation_p.L5420H|DST_uc003pcy.3_Missense_Mutation_p.L5054H|DST_uc003pcv.3_Missense_Mutation_p.L176H|DST_uc003pcw.3_Missense_Mutation_p.L137H|DST_uc003pcx.3_Missense_Mutation_p.L100H NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 7453 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATATCCTGGAAGTCGAAGCTT 0.463 NaN 0 0 0 0.010504 0 19 25 PHIP 55023 broad.mit.edu 37 6 79655145 79655145 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:79655145C>G uc003pir.2 - 39 4926 c.4700G>C c.(4699-4701)AGT>ACT p.S1567T PHIP_uc003piq.2_Missense_Mutation_p.S591T|PHIP_uc011dyp.1_Missense_Mutation_p.S1566T|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.S453T NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1567 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) AGTGCCATGACTAAAACTGGA 0.348 NaN 0 0 0 0.004007 0 16 39 IBTK 25998 broad.mit.edu 37 6 82910359 82910359 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:82910359C>T uc003pjl.1 - 20 3384 c.2857G>A c.(2857-2859)GTA>ATA p.V953I IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.V953I|IBTK_uc011dyw.1_Missense_Mutation_p.V752I|IBTK_uc010kbi.1_Missense_Mutation_p.V647I|IBTK_uc003pjm.2_Missense_Mutation_p.V953I NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 953 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) CCATCTTCTACTTCCAAATAG 0.269 NaN 0 0 0 0.003163 0 16 12 ZNF292 23036 broad.mit.edu 37 6 87970340 87970340 + Silent SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:87970340C>G uc003plm.3 + 8 7034 c.6993C>G c.(6991-6993)CCC>CCG p.P2331P NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TAAAAATGCCCAAGACCAAAC 0.378 NaN 0 0 0 0.003163 0 14 12 PRDM1 639 broad.mit.edu 37 6 106547284 106547284 + Missense_Mutation SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:106547284C>A uc003prd.2 + 4 755 c.521C>A c.(520-522)GCT>GAT p.A174D PRDM1_uc003pre.2_Missense_Mutation_p.A40D NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 174 SET. negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Y174*(1) haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CAAAACCTGGCTGCGTGTCAG 0.502 NaN D|N|Mis|F|S DLBCL 1 0 1.22574e-08 0.002299 1.32718e-08 23 37 IL20RA 53832 broad.mit.edu 37 6 137325794 137325794 + Silent SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:137325794A>G uc003qhj.2 - 6 1261 c.828T>C c.(826-828)TAT>TAC p.Y276Y IL20RA_uc011edl.1_Silent_p.Y227Y|IL20RA_uc003qhk.2_Silent_p.Y165Y|IL20RA_uc003qhi.2_Silent_p.Y8Y NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha precursor 276 Cytoplasmic (Potential). integral to membrane receptor activity ovary(2)|skin(2) 4 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CAACGTGGATATATCGGTAGA 0.413 NaN 0 0 0 0.00361 0 134 77 HIVEP2 3097 broad.mit.edu 37 6 143092722 143092722 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:143092722C>G uc003qjd.2 - 5 3897 c.3154G>C c.(3154-3156)GAT>CAT p.D1052H NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1052 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TTCCCATAATCAAATGATTTG 0.557 NaN 0 0 0 0.012213 0 33 22 SYTL3 94120 broad.mit.edu 37 6 159181706 159181706 + Missense_Mutation SNP A A C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:159181706A>C uc003qrp.2 + 14 1587 c.1343A>C c.(1342-1344)AAT>ACT p.N448T SYTL3_uc011efp.1_Missense_Mutation_p.N448T|SYTL3_uc003qro.2_Missense_Mutation_p.N380T|SYTL3_uc003qrq.2_Missense_Mutation_p.N380T|SYTL3_uc003qrr.2_Missense_Mutation_p.N448T|SYTL3_uc003qrs.2_Missense_Mutation_p.N380T|SYTL3_uc011efq.1_Missense_Mutation_p.N174T NM_001009991 NP_001009991 Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 448 intracellular protein transport endomembrane system|membrane Rab GTPase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) CCTCAGAGTAATGGAGAGCTC 0.557 NaN 0 0 0 0.010504 0 19 65 IGF2R 3482 broad.mit.edu 37 6 160483635 160483635 + Silent SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:160483635C>G uc003qta.2 + 26 3802 c.3654C>G c.(3652-3654)CCC>CCG p.P1218P NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1218 8.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AAGCCTGTCCCGTTGTCAGAG 0.463 NaN 0 0 0 0.006122 0 16 27 INTS1 26173 broad.mit.edu 37 7 1527588 1527588 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:1527588T>C uc003skn.2 - 19 2425 c.2324A>G c.(2323-2325)TAC>TGC p.Y775C INTS1_uc003skp.1_Missense_Mutation_p.Y122C NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 775 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TGGGTAGGAGTAGTTGCTAGG 0.652 NaN 0 0 0 0.00361 0 61 85 SDK1 221935 broad.mit.edu 37 7 4171955 4171955 + Splice_Site SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:4171955A>T uc003smx.2 + 28 4269 c.4130_splice c.e28-2 p.A1377_splice SDK1_uc010kso.2_Splice_Site_p.A653_splice|SDK1_uc003smy.2_Splice_Site NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TTTTCCCTTCAGCCCCAGGCC 0.582 NaN 0 0 0 0.004482 0 8 12 CYTH3 9265 broad.mit.edu 37 7 6210831 6210831 + Splice_Site SNP A A C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:6210831A>C uc003spt.2 - 7 666 c.562_splice c.e7+1 p.D188_splice CYTH3_uc011jws.1_Splice_Site_p.D103_splice NM_004227 NP_004218 O43739 CYH3_HUMAN cytohesin 3 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity 0 CTCTGCACTGACCTGTGGACT 0.662 NaN 0 0 0 0.007291 0 25 72 ICA1 3382 broad.mit.edu 37 7 8260975 8260975 + Missense_Mutation SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:8260975G>T uc003srm.2 - 5 377 c.310C>A c.(310-312)CAA>AAA p.Q104K ICA1_uc010ktr.2_Missense_Mutation_p.Q104K|ICA1_uc003srl.2_Missense_Mutation_p.Q92K|ICA1_uc003srn.3_Missense_Mutation_p.Q30K|ICA1_uc003srp.3_Missense_Mutation_p.Q103K|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.Q104K|ICA1_uc003srr.2_Missense_Mutation_p.Q103K|ICA1_uc003sro.3_Missense_Mutation_p.Q104K|ICA1_uc011jxg.1_Missense_Mutation_p.Q104K|ICA1_uc003srs.1_Missense_Mutation_p.Q104K NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 104 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) GTTTTATCTTGGAAACCTTGG 0.443 NaN 1 0 7.48243e-07 0.006214 7.88417e-07 10 101 NPC1L1 29881 broad.mit.edu 37 7 44556935 44556935 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:44556935T>C uc003tlb.2 - 16 3295 c.3239A>G c.(3238-3240)CAC>CGC p.H1080R NPC1L1_uc003tlc.2_Missense_Mutation_p.H1053R|NPC1L1_uc011kbw.1_Missense_Mutation_p.H1007R|NPC1L1_uc003tla.2_Missense_Mutation_p.H56R NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1080 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) CAGGGGCTTGTGATAGGCCAT 0.557 NaN 0 0 0 0.012319 0 20 49 PPP1R9A 55607 broad.mit.edu 37 7 94540651 94540651 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:94540651G>A uc003unp.2 + 2 1508 c.1226G>A c.(1225-1227)AGG>AAG p.R409K PPP1R9A_uc010lfj.2_Missense_Mutation_p.R409K|PPP1R9A_uc011kif.1_Missense_Mutation_p.R409K|PPP1R9A_uc003unq.2_Missense_Mutation_p.R409K|PPP1R9A_uc011kig.1_Missense_Mutation_p.R409K NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 409 cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GTGAGATCCAGGTATAATTCA 0.423 NaN HNSCC(28;0.073) 0 0 0 0.00278 0 24 21 ACN9 57001 broad.mit.edu 37 7 96810409 96810409 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:96810409A>G uc003uoo.3 + 2 1391 c.260A>G c.(259-261)GAA>GGA p.E87G NM_020186 NP_064571 Q9NRP4 ACN9_HUMAN ACN9 homolog precursor 87 regulation of gluconeogenesis mitochondrial intermembrane space 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) TTCCTCCCAGAAGAAAAACTT 0.388 NaN 0 0 0 0.005524 0 38 24 TECPR1 25851 broad.mit.edu 37 7 97863074 97863074 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:97863074G>A uc003upg.2 - 11 1536 c.1331C>T c.(1330-1332)TCA>TTA p.S444L TECPR1_uc003uph.1_Missense_Mutation_p.S374L NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 444 integral to membrane protein binding pancreas(1) 1 GCCTGAGGCTGAGTTCCCTGT 0.647 NaN 0 0 0 0.00308 0 6 7 LRCH4 4034 broad.mit.edu 37 7 100172746 100172746 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:100172746C>G uc003uvj.2 - 18 2089 c.2036G>C c.(2035-2037)CGG>CCG p.R679P uc003uvh.2_5'Flank|LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_3'UTR NM_002319 NP_002310 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) 679 nervous system development PML body protein binding large_intestine(1)|ovary(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACCCAGGAGCCGAGTGTAGGT 0.637 NaN 0 0 0 0.004672 0 3 14 LRRC17 10234 broad.mit.edu 37 7 102574512 102574512 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:102574512G>A uc003vau.2 + 2 541 c.152G>A c.(151-153)GGC>GAC p.G51D FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.G51D NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 isoform 1 51 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space ovary(1) 1 TACGCACCAGGCCTCCCGTGT 0.542 NaN 0 0 0 0.001168 0 6 31 PTPRZ1 5803 broad.mit.edu 37 7 121650516 121650516 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:121650516G>A uc003vjy.2 + 12 1811 c.1416G>A c.(1414-1416)ACG>ACA p.T472T PTPRZ1_uc003vjz.2_Silent_p.T472T|PTPRZ1_uc011knt.1_5'UTR NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 472 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 GCATAGGGACGAAATACAATG 0.433 NaN 0 0 0 0.00361 0 42 32 SPAM1 6677 broad.mit.edu 37 7 123599683 123599683 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:123599683A>G uc003vld.2 + 6 1592 c.1190A>G c.(1189-1191)TAT>TGT p.Y397C SPAM1_uc003vle.2_Missense_Mutation_p.Y397C|SPAM1_uc011koa.1_Missense_Mutation_p.Y53C|SPAM1_uc003vlf.3_Missense_Mutation_p.Y397C|SPAM1_uc010lku.2_Missense_Mutation_p.Y397C NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 397 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) TCAAGTGACTATCTTCACCTC 0.418 NaN 0 0 0 0.008871 0 18 38 LRGUK 136332 broad.mit.edu 37 7 133884160 133884160 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:133884160G>A uc003vrm.1 + 14 1750 c.1734G>A c.(1732-1734)GAG>GAA p.E578E NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 578 Guanylate kinase-like. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 ATTTTGATGAGGTAATCAATG 0.318 NaN 0 0 0 0.004656 0 24 87 HIPK2 28996 broad.mit.edu 37 7 139299121 139299121 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:139299121C>T uc003vvf.3 - 8 2075 c.1901G>A c.(1900-1902)AGC>AAC p.S634N HIPK2_uc003vvd.3_Missense_Mutation_p.S607N NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 634 Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) CAGGGGCATGCTCCGCTGGGC 0.577 NaN 0 0 0 0.004672 0 3 11 TPK1 27010 broad.mit.edu 37 7 144320258 144320258 + Splice_Site SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:144320258C>T uc003weq.2 - 6 457 c.354_splice c.e6+1 p.K118_splice TPK1_uc003weo.2_Splice_Site_p.K113_splice|TPK1_uc003wep.2_Splice_Site|TPK1_uc003wer.2_Splice_Site_p.K118_splice|TPK1_uc003wes.2_Splice_Site NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 isoform a thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity ovary(2) 2 Thiamine(DB00152) GTATATATTACCTTTAAGTCT 0.328 NaN 0 0 0 0.00361 0 62 64 LPL 4023 broad.mit.edu 37 8 19818562 19818562 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr8:19818562G>A uc003wzk.3 + 8 1660 c.1290G>A c.(1288-1290)AAG>AAA p.K430K NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor 430 PLAT.|Heparin-binding (By similarity). fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) CCATTCAGAAGATCAGAGTAA 0.428 NaN 0 0 0 0.00278 0 21 16 EIF4EBP1 1978 broad.mit.edu 37 8 37914710 37914710 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr8:37914710G>A uc003xks.2 + 2 329 c.257G>A c.(256-258)AGT>AAT p.S86N NM_004095 NP_004086 Q13541 4EBP1_HUMAN eukaryotic translation initiation factor 4E 86 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation cytosol 0 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) AGCCCTTCCAGTGATGAGCCC 0.602 NaN 0 0 0 0.003163 0 14 34 RP1 6101 broad.mit.edu 37 8 55541521 55541521 + Missense_Mutation SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr8:55541521G>T uc003xsd.1 + 4 5227 c.5079G>T c.(5077-5079)TTG>TTT p.L1693F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1693 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CATCTATGTTGCAGGAATTCC 0.403 NaN 1 0 4.11147e-13 0.003755 4.57802e-13 38 236 CLVS1 157807 broad.mit.edu 37 8 62366715 62366715 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr8:62366715C>G uc003xuh.2 + 4 970 c.646C>G c.(646-648)CGC>GGC p.R216G CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Missense_Mutation_p.R216G NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 216 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 CTTTCCTGCCCGCTTTGGAGG 0.493 NaN 0 0 0 0.00361 0 179 117 CRH 1392 broad.mit.edu 37 8 67089287 67089287 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr8:67089287G>A uc003xvy.1 - 2 611 c.426C>T c.(424-426)GGC>GGT p.G142G NM_000756 NP_000747 P06850 CRF_HUMAN corticotropin releasing hormone precursor 142 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity 0 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) CCTGGTGGCCGCCGAGGGCAT 0.667 NaN OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 10 SULF1 23213 broad.mit.edu 37 8 70539485 70539485 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr8:70539485G>A uc010lza.1 + 16 2608 c.1891G>A c.(1891-1893)GAA>AAA p.E631K SULF1_uc003xyd.2_Missense_Mutation_p.E631K|SULF1_uc003xye.2_Missense_Mutation_p.E631K|SULF1_uc003xyf.2_Missense_Mutation_p.E631K|SULF1_uc003xyg.2_Missense_Mutation_p.E631K|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'Flank NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 631 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTGTGAGAGAGAACTGTACCA 0.388 NaN 0 0 0 0.00361 0 69 48 ZFHX4 79776 broad.mit.edu 37 8 77763236 77763236 + Missense_Mutation SNP G G T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr8:77763236G>T uc003yav.2 + 10 4331 c.3944G>T c.(3943-3945)TGG>TTG p.W1315L ZFHX4_uc003yau.1_Missense_Mutation_p.W1360L|ZFHX4_uc003yaw.1_Missense_Mutation_p.W1315L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1315 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTCTCAGAATGGAATAAAAAT 0.423 NaN HNSCC(33;0.089) 1 0 1.06961e-07 0.00308 1.14238e-07 8 33 VPS13B 157680 broad.mit.edu 37 8 100146891 100146891 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr8:100146891A>G uc003yiv.2 + 9 1349 c.1238A>G c.(1237-1239)TAC>TGC p.Y413C VPS13B_uc003yiw.2_Missense_Mutation_p.Y413C|VPS13B_uc003yit.2_Missense_Mutation_p.Y413C|VPS13B_uc003yiu.1_Missense_Mutation_p.Y413C|VPS13B_uc003yix.1_5'Flank NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 413 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGTAGTTATTACAGTCCACAG 0.274 NaN 0 0 0 0.002836 0 32 124 MAF1 84232 broad.mit.edu 37 8 145161270 145161270 + Missense_Mutation SNP C C A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr8:145161270C>A uc003zbc.1 + 5 904 c.403C>A c.(403-405)CTG>ATG p.L135M SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank|KIAA1875_uc011lky.1_5'Flank NM_032272 NP_115648 Q9H063 MAF1_HUMAN MAF1 protein 135 negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent cytoplasm|nucleus 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAACTGCAGTCTGTTCTCAGC 0.582 NaN 1 0 6.38683e-12 0.008361 7.03672e-12 30 15 SMARCA2 6595 broad.mit.edu 37 9 2086985 2086985 + Missense_Mutation SNP C C G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 C G C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr9:2086985C>G uc003zhc.2 + 18 2782 c.2683C>G c.(2683-2685)CTC>GTC p.L895V SMARCA2_uc003zhd.2_Missense_Mutation_p.L895V|SMARCA2_uc010mha.2_Intron NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 895 Helicase ATP-binding. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CTGGGCCCTCCTCAACTTCCT 0.507 NaN 0 0 0 0.00361 0 75 13 INSL4 3641 broad.mit.edu 37 9 5231710 5231710 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr9:5231710C>T uc003ziy.2 + 1 292 c.187C>T c.(187-189)CGT>TGT p.R63C NM_002195 NP_002186 Q14641 INSL4_HUMAN insulin-like 4 precursor 63 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) GGAATCTGGACGTCCCAAAGG 0.517 NaN 0 0 0 0.002299 0 22 7 KIAA1045 23349 broad.mit.edu 37 9 34976675 34976675 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr9:34976675A>G uc003zvq.2 + 5 965 c.787A>G c.(787-789)ATA>GTA p.I263V KIAA1045_uc003zvr.2_Missense_Mutation_p.I263V NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 263 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) TCGAGGCCACATAGAGTGGCC 0.622 NaN 0 0 0 0.00361 0 66 60 TMOD1 7111 broad.mit.edu 37 9 100326379 100326379 + Missense_Mutation SNP G G C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr9:100326379G>C uc004axk.1 + 6 760 c.547G>C c.(547-549)GTA>CTA p.V183L TMOD1_uc004axl.1_Missense_Mutation_p.V183L NM_003275 NP_003266 P28289 TMOD1_HUMAN tropomodulin 1 183 muscle filament sliding cytosol actin binding 0 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) TTCAACAGACGTAGAGGAAAC 0.443 NaN 0 0 0 0.012319 0 17 22 TSTD2 158427 broad.mit.edu 37 9 100367863 100367863 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr9:100367863C>T uc004axn.2 - 8 1503 c.1015G>A c.(1015-1017)GTT>ATT p.V339I TSTD2_uc004axo.2_Missense_Mutation_p.V113I|TSTD2_uc004axp.1_Missense_Mutation_p.V113I NM_139246 NP_640339 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like 339 Rhodanese. ovary(2) 2 TTTTTGTCAACGTAGCTAGGG 0.463 NaN 0 0 0 0.003271 0 36 77 CDK5RAP2 55755 broad.mit.edu 37 9 123232480 123232480 + Missense_Mutation SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr9:123232480T>C uc004bkf.2 - 17 2058 c.1877A>G c.(1876-1878)TAT>TGT p.Y626C CDK5RAP2_uc004bke.2_5'UTR|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.Y626C|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Y625C|CDK5RAP2_uc004bki.2_Missense_Mutation_p.Y425C NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 626 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 TTGATCACTATAAAGTGAAAA 0.363 NaN 0 0 0 0.001984 0 7 19 SPTAN1 6709 broad.mit.edu 37 9 131329130 131329130 + Silent SNP T T C TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr9:131329130T>C uc004bvl.3 + 2 224 c.111T>C c.(109-111)CGT>CGC p.R37R SPTAN1_uc011mbg.1_Silent_p.R37R|SPTAN1_uc011mbh.1_Silent_p.R49R|SPTAN1_uc004bvm.3_Silent_p.R37R|SPTAN1_uc004bvn.3_Silent_p.R37R NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 37 Spectrin 1. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 CCCTTAGGCGTCAGAAGCTGG 0.493 NaN 0 0 0 0.00361 0 72 55 MSL3 10943 broad.mit.edu 37 X 11783848 11783848 + Missense_Mutation SNP A A G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chrX:11783848A>G uc004cuw.2 + 9 1276 c.1171A>G c.(1171-1173)AAG>GAG p.K391E MSL3_uc004cuv.1_Missense_Mutation_p.S391G|MSL3_uc004cux.2_Missense_Mutation_p.K332E|MSL3_uc011mig.1_Missense_Mutation_p.K242E|MSL3_uc011mih.1_Missense_Mutation_p.K379E|MSL3_uc004cuy.2_Missense_Mutation_p.K225E NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 391 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCTGGAAAAGAGTAGGTTCAT 0.582 NaN 0 0 0 0.006999 0 39 39 KDM6A 7403 broad.mit.edu 37 X 44922802 44922802 + Nonsense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS WGS Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chrX:44922802C>T uc004dge.3 + 16 2038 c.1663C>T c.(1663-1665)CAG>TAG p.Q555* KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 555 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TAGCGTCTCTCAGCCTGGAGT 0.567 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.006122 0 13 9 VSIG4 11326 broad.mit.edu 37 X 65242174 65242174 + Silent SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chrX:65242174G>A uc004dwh.2 - 8 1258 c.1131C>T c.(1129-1131)TAC>TAT p.Y377Y VSIG4_uc004dwi.2_Silent_p.Y283Y|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_3'UTR|VSIG4_uc004dwl.2_Intron NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 377 Cytoplasmic (Potential). complement activation, alternative pathway integral to membrane protein binding 0 GCAGGCGGGCGTAGTTGCCAT 0.517 NaN 0 0 0 0.00308 0 7 14 OGT 8473 broad.mit.edu 37 X 70784470 70784470 + Missense_Mutation SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chrX:70784470C>T uc004eaa.1 + 19 2673 c.2456C>T c.(2455-2457)ACT>ATT p.T819I BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.T809I|OGT_uc004eac.2_Missense_Mutation_p.T680I|OGT_uc004ead.2_Missense_Mutation_p.T438I NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 819 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) AAGGCTGCAACTGGAGAGGAG 0.368 NaN 0 0 0 0.006122 0 15 14 TAF7L 54457 broad.mit.edu 37 X 100532627 100532627 + Missense_Mutation SNP T T A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chrX:100532627T>A uc004ehb.2 - 9 928 c.916A>T c.(916-918)ATG>TTG p.M306L TAF7L_uc004eha.2_Missense_Mutation_p.M220L|TAF7L_uc004ehc.1_Missense_Mutation_p.M220L NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 306 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 TGGCTGCTCATTCCCGAGGAT 0.458 NaN 0 0 0 0.00361 0 69 38 GPR112 139378 broad.mit.edu 37 X 135428141 135428141 + Nonsense_Mutation SNP T T G TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chrX:135428141T>G uc004ezu.1 + 6 2567 c.2276T>G c.(2275-2277)TTA>TGA p.L759* GPR112_uc010nsb.1_Nonsense_Mutation_p.L554*|GPR112_uc010nsc.1_Nonsense_Mutation_p.L526* NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 759 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CTTACCACTTTACTACTAAAA 0.358 NaN 0 0 0 0.00333 0 23 25 RYR2 6262 broad.mit.edu 37 1 237972206 237972209 + Frame_Shift_Del DEL ATTA ATTA - TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr1:237972206_237972209delATTA uc001hyl.1 + 100 14424_14427 c.14304_14307delATTA c.(14302-14307)GTATTAfs p.V4768fs RYR2_uc010pyb.1_Frame_Shift_Del_p.V201fs NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4768_4769 Helical; Name=M8; (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCCAGCTCGTATTAACCGTTGGCT 0.407 NaN NaN NaN NaN NaN NaN 46 306 --- --- C11orf9 745 broad.mit.edu 37 11 61544788 61544806 + Frame_Shift_Del DEL CACAGGTGCCCGACACCGT CACAGGTGCCCGACACCGT - rs75764154 byFrequency TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr11:61544788_61544806delCACAGGTGCCCGACACCGT uc001nsc.1 + 12 1739_1757 c.1643_1661delCACAGGTGCCCGACACCGT c.(1642-1662)GCACAGGTGCCCGACACCGTCfs p.A548fs C11orf9_uc001nse.1_Frame_Shift_Del_p.A539fs|C11orf9_uc010rll.1_5'Flank NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 548_554 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 TGGCAGCGGGCACAGGTGCCCGACACCGTCTTCCACCAC 0.653 NaN NaN NaN NaN NaN NaN 8 13 --- --- AVIL 10677 broad.mit.edu 37 12 58197160 58197179 + Splice_Site DEL ATTTCCTGCTGAAGTCTGCA ATTTCCTGCTGAAGTCTGCA - TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:58197160_58197179delATTTCCTGCTGAAGTCTGCA uc001sqj.1 - 15 1847 c.1818_splice c.e15-1 p.R606_splice AVIL_uc009zqe.1_Splice_Site_p.R599_splice|AVIL_uc001sqk.1_Splice_Site_p.R184_splice NM_006576 NP_006567 O75366 AVIL_HUMAN advillin actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding central_nervous_system(1) 1 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GACATCTAGGATTTCCTGCTGAAGTCTGCAATATAGTCCA 0.459 NaN OREG0021955 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 34 59 --- --- NUP107 57122 broad.mit.edu 37 12 69120293 69120305 + Frame_Shift_Del DEL TTTAGCAAATGGC TTTAGCAAATGGC - TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:69120293_69120305delTTTAGCAAATGGC uc001suf.2 + 19 1706_1718 c.1591_1603delTTTAGCAAATGGC c.(1591-1605)TTTAGCAAATGGCTTfs p.F531fs NUP107_uc001sug.2_Frame_Shift_Del_p.F378fs|NUP107_uc010stj.1_Frame_Shift_Del_p.F502fs NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 531_535 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GATGGATGAGTTTAGCAAATGGCTTTCCAAAAG 0.352 NaN NaN NaN NaN NaN NaN 25 277 --- --- TBX5 6910 broad.mit.edu 37 12 114836462 114836462 + Frame_Shift_Del DEL G G - TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr12:114836462delG uc001tvo.2 - 5 921 c.426delC c.(424-426)CCCfs p.P142fs TBX5_uc001tvp.2_Frame_Shift_Del_p.P142fs|TBX5_uc001tvq.2_Frame_Shift_Del_p.P92fs|TBX5_uc010syv.1_Frame_Shift_Del_p.P142fs NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 142 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CCCCGGTGGCGGGGGAGTCTG 0.612 NaN NaN NaN NaN NaN NaN 18 22 --- --- ZNF768 79724 broad.mit.edu 37 16 30537683 30537692 + Frame_Shift_Del DEL AACTCTGCAC AACTCTGCAC - rs145753318 TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:30537683_30537692delAACTCTGCAC uc002dyk.3 - 1 219_228 c.43_52delGTGCAGAGTT c.(43-54)GTGCAGAGTTCTfs p.V15fs ZNF768_uc010vex.1_Intron|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Intron NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 15_18 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 ATTTCGTCAGAACTCTGCACATCCTGGGGC 0.714 NaN NaN NaN NaN NaN NaN 7 28 --- --- NFAT5 10725 broad.mit.edu 37 16 69725894 69725908 + In_Frame_Del DEL ATTGCAGCAGGCTAC ATTGCAGCAGGCTAC - TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:69725894_69725908delATTGCAGCAGGCTAC uc002exm.1 + 12 3320_3334 c.2112_2126delATTGCAGCAGGCTAC c.(2110-2127)CTATTGCAGCAGGCTACA>CTA p.LQQAT705del NFAT5_uc002exi.2_In_Frame_Del_p.LQQAT629del|NFAT5_uc002exj.1_In_Frame_Del_p.LQQAT629del|NFAT5_uc002exk.1_In_Frame_Del_p.LQQAT629del|NFAT5_uc002exl.1_In_Frame_Del_p.LQQAT723del|NFAT5_uc002exn.1_In_Frame_Del_p.LQQAT722del|NFAT5_uc002exo.1_5'Flank NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 705_709 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 GCGATGCACTATTGCAGCAGGCTACACAGTTTCAG 0.465 NaN NaN NaN NaN NaN NaN 13 65 --- --- PKD1L2 114780 broad.mit.edu 37 16 81232612 81232624 + Frame_Shift_Del DEL GGGTGGTGGACTC GGGTGGTGGACTC - TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr16:81232612_81232624delGGGTGGTGGACTC uc002fgh.1 - 7 1186_1198 c.1186_1198delGAGTCCACCACCC c.(1186-1200)GAGTCCACCACCCAAfs p.E396fs PKD1L2_uc002fgj.2_Frame_Shift_Del_p.E396fs NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 396_400 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GAGCCCTTTTGGGTGGTGGACTCGGCCAGGGTT 0.516 NaN NaN NaN NaN NaN NaN 15 84 --- --- RBM44 375316 broad.mit.edu 37 2 238726935 238726943 + In_Frame_Del DEL CAAGTTGTA CAAGTTGTA - TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr2:238726935_238726943delCAAGTTGTA uc002vxi.3 + 3 1508_1516 c.1376_1384delCAAGTTGTA c.(1375-1386)GCAAGTTGTACA>GCA p.SCT460del NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 459_461 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) ACAGATGCAGCAAGTTGTACAGTCACAAT 0.397 NaN NaN NaN NaN NaN NaN 24 65 --- --- HK3 3101 broad.mit.edu 37 5 176308405 176308406 + Frame_Shift_Ins INS - - C rs145283059 TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr5:176308405_176308406insC uc003mfa.2 - 18 2616_2617 c.2524_2525insG c.(2524-2526)GCGfs p.A842fs HK3_uc003mez.2_Frame_Shift_Ins_p.A398fs NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 842 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCTACACCCGCCCCACAGAGC 0.639 NaN NaN NaN NaN NaN NaN 24 29 --- --- SGK1 6446 broad.mit.edu 37 6 134493873 134493887 + In_Frame_Del DEL GTTCCAGGAAGCAGC GTTCCAGGAAGCAGC - TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr6:134493873_134493887delGTTCCAGGAAGCAGC uc003qen.3 - 7 664_678 c.575_589delGCTGCTTCCTGGAAC c.(574-591)CGCTGCTTCCTGGAACCA>CCA p.RCFLE192del SGK1_uc003qeo.3_In_Frame_Del_p.RCFLE287del|SGK1_uc011ect.1_In_Frame_Del_p.RCFLE182del|SGK1_uc011ecu.1_In_Frame_Del_p.RCFLE148del|SGK1_uc011ecv.1_In_Frame_Del_p.RCFLE206del|SGK1_uc011ecw.1_In_Frame_Del_p.RCFLE220del NM_005627 NP_005618 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform 192_196 Protein kinase. E -> G (in Ref. 4; CAR58095). apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) CGAGCCCGTGGTTCCAGGAAGCAGCGTTCCCTCTG 0.46 NaN NaN NaN NaN NaN NaN 13 28 --- --- CDK13 8621 broad.mit.edu 37 7 40027759 40027772 + Frame_Shift_Del DEL AGGAGCCAAGGAGA AGGAGCCAAGGAGA - TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr7:40027759_40027772delAGGAGCCAAGGAGA uc003thh.3 + 2 2055_2068 c.1773_1786delAGGAGCCAAGGAGA c.(1771-1788)ATAGGAGCCAAGGAGAAGfs p.I591fs CDK13_uc003thi.3_Frame_Shift_Del_p.I591fs|CDK13_uc011kbf.1_5'UTR NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 591_596 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 CACCAAGCATAGGAGCCAAGGAGAAGGAGCAACA 0.43 NaN NaN NaN NaN NaN NaN 12 40 --- --- NBN 4683 broad.mit.edu 37 8 90955588 90955607 + Splice_Site DEL ATGTGACCTATTGAATAATA ATGTGACCTATTGAATAATA - TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 91f458e6-64b7-454d-a542-b0aa23638fd8 c14e29aa-a979-4452-8019-7eebfb3d5d04 g.chr8:90955588_90955607delATGTGACCTATTGAATAATA uc003yej.1 - 14 2181 c.2071_splice c.e14-1 p.V691_splice NBN_uc003yei.1_Splice_Site_p.V609_splice|NBN_uc011lgb.1_Splice_Site_p.V691_splice NM_002485 NP_002476 O60934 NBN_HUMAN nibrin cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) GCTCCAGGATATGTGACCTATTGAATAATAAAAGTAGTAC 0.336 NaN Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome NaN NaN NaN NaN NaN 45 94 --- ---