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 CCDC27 148870 broad.mit.edu 37 1 3672130 3672130 + Silent SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:3672130C>T uc001akv.2 + 3 633 c.552C>T c.(550-552)GAC>GAT p.D184D NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 184 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CGAACGTGGACGGTGAGGGAG 0.647 NaN 0 0 0 0.012319 0 21 228 CAMTA1 23261 broad.mit.edu 37 1 7798119 7798119 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:7798119C>G uc001aoi.2 + 16 3966 c.3759C>G c.(3757-3759)TTC>TTG p.F1253L CAMTA1_uc010nzv.1_Missense_Mutation_p.F340L|CAMTA1_uc001aok.3_Missense_Mutation_p.F296L|CAMTA1_uc001aoj.2_Missense_Mutation_p.F209L NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1253 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CTGAGTACTTCCAGACAAGGC 0.488 NaN 0 0 0 0.027356 0 26 103 PTCHD2 57540 broad.mit.edu 37 1 11596720 11596720 + Silent SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:11596720C>T uc001ash.3 + 21 4294 c.4156C>T c.(4156-4158)CTG>TTG p.L1386L NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1386 Cytoplasmic (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TAAGATTCCCCTGCCCGCAGG 0.672 NaN 0 0 0 0.004672 0 3 10 PADI4 23569 broad.mit.edu 37 1 17690129 17690129 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:17690129G>A uc001baj.2 + 16 1899 c.1871G>A c.(1870-1872)GGC>GAC p.G624D NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 624 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GAGCCACTGGGCCTCCAGTGC 0.617 NaN 0 0 0 0.00308 0 7 47 SRRM1 10250 broad.mit.edu 37 1 24993374 24993374 + Missense_Mutation SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:24993374C>A uc001bjm.2 + 13 1921 c.1697C>A c.(1696-1698)CCT>CAT p.P566H SRRM1_uc010oel.1_Missense_Mutation_p.P578H|SRRM1_uc009vrh.1_Missense_Mutation_p.P539H|SRRM1_uc009vri.1_Missense_Mutation_p.P495H|SRRM1_uc010oem.1_RNA NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 566 Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCCGCCCCTCCTCCTCGACGG 0.537 NaN 1 0 1.76689e-08 0.006214 1.93927e-08 5 75 SRRM1 10250 broad.mit.edu 37 1 24993386 24993386 + Missense_Mutation SNP G G T rs78787676 byFrequency TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:24993386G>T uc001bjm.2 + 13 1933 c.1709G>T c.(1708-1710)CGC>CTC p.R570L SRRM1_uc010oel.1_Missense_Mutation_p.R582L|SRRM1_uc009vrh.1_Missense_Mutation_p.R543L|SRRM1_uc009vri.1_Missense_Mutation_p.R499L|SRRM1_uc010oem.1_RNA NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 570 Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCTCGACGGCGCAGGACTCCC 0.532 NaN 1 0 0.000673444 0.008291 0.000715866 5 77 LSM10 84967 broad.mit.edu 37 1 36859515 36859515 + Silent SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:36859515G>C uc001cao.1 - 2 366 c.216C>G c.(214-216)CTC>CTG p.L72L NM_032881 NP_116270 Q969L4 LSM10_HUMAN LSM10, U7 small nuclear RNA associated 72 histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding 0 Myeloproliferative disorder(586;0.0393) CTGTCACAAAGAGGTCATCCA 0.552 NaN 0 0 0 0.010504 0 21 83 TTLL7 79739 broad.mit.edu 37 1 84373315 84373315 + Missense_Mutation SNP G G A rs143330409 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:84373315G>A uc001djc.2 - 16 2212 c.1816C>T c.(1816-1818)CGG>TGG p.R606W TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 606 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) GAGATGGACCGAGGGCAGCTG 0.468 NaN 0 0 0 0.021553 0 5 34 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:145367767G>A uc001end.3 + 85 10623 c.10588G>A c.(10588-10590)GAA>AAA p.E3530K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3455 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.254 NaN 0 0 0 0.021553 0 5 82 FMO3 2328 broad.mit.edu 37 1 171086316 171086316 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:171086316C>T uc001ghi.2 + 9 1444 c.1333C>T c.(1333-1335)CCC>TCC p.P445S FMO3_uc001ghh.2_Missense_Mutation_p.P445S|FMO3_uc010pmb.1_Missense_Mutation_p.P425S|FMO3_uc010pmc.1_Missense_Mutation_p.P382S NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 445 KP -> T (in Ref. 1; AAA86284). xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGGGCAAAGCCCAACATCCC 0.483 NaN 0 0 0 0.025465 0 39 51 TNN 63923 broad.mit.edu 37 1 175067712 175067712 + Silent SNP C C T rs150075962 by1000genomes TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:175067712C>T uc001gkl.1 + 9 2213 c.2100C>T c.(2098-2100)GCC>GCT p.A700A TNN_uc010pmx.1_Silent_p.A611A NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 700 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCAAGAAGGCCGACACCAAGG 0.572 NaN 0 0 0 0.015359 0 33 91 KDM5B 10765 broad.mit.edu 37 1 202710600 202710600 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:202710600C>T uc001gyf.2 - 19 2956 c.2840G>A c.(2839-2841)GGG>GAG p.G947E KDM5B_uc009xag.2_Missense_Mutation_p.G983E|KDM5B_uc001gyg.1_Missense_Mutation_p.G789E NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 947 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 CGGGGCCAGCCCTACCCCTAG 0.547 NaN 0 0 0 0.015359 0 35 61 OR2T1 26696 broad.mit.edu 37 1 248570286 248570286 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:248570286C>T uc010pzm.1 + 1 991 c.991C>T c.(991-993)CTC>TTC p.L331F NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 331 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTACACCATTCTCACACCCAT 0.527 NaN 0 0 0 0.01441 0 60 210 INPP5F 22876 broad.mit.edu 37 10 121557048 121557048 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr10:121557048A>G uc001leo.2 + 8 1110 c.944A>G c.(943-945)CAT>CGT p.H315R NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 315 SAC. phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CAGTTGATTCATGTTCATAAT 0.423 NaN 0 0 0 0.020292 0 12 16 OR2AG2 338755 broad.mit.edu 37 11 6789447 6789447 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr11:6789447C>T uc001meq.1 - 1 742 c.742G>A c.(742-744)GTC>ATC p.V248I NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 248 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AACATCCCGACCACAATCAGG 0.483 NaN 0 0 0 0.012319 0 23 17 OR5D18 219438 broad.mit.edu 37 11 55587220 55587220 + Missense_Mutation SNP A A T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr11:55587220A>T uc010rin.1 + 1 115 c.115A>T c.(115-117)ACT>TCT p.T39S NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CTACAATGTCACTGTGCTAGG 0.453 NaN 0 0 0 0.01441 0 102 101 TMEM123 114908 broad.mit.edu 37 11 102272686 102272686 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr11:102272686G>A uc001pha.2 - 3 830 c.409C>T c.(409-411)CAC>TAC p.H137Y TMEM123_uc009yxc.2_Missense_Mutation_p.H118Y NM_052932 NP_443164 Q8N131 PORIM_HUMAN transmembrane protein 123 precursor 137 Thr-rich.|Extracellular (Potential). oncosis external side of plasma membrane|integral to membrane receptor activity breast(2) 2 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) GAACTATTGTGGGTTACGGTC 0.373 NaN 0 0 0 0.01441 0 939 45 CD163 9332 broad.mit.edu 37 12 7656275 7656275 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:7656275G>A uc001qsz.3 - 1 140 c.12C>T c.(10-12)CTC>CTT p.L4L CD163_uc001qta.3_Silent_p.L4L|CD163_uc009zfw.2_Silent_p.L4L NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 4 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 GCACCATTCTGAGTTTGCTCA 0.318 NaN 0 0 0 0.013537 0 10 68 ABCC9 10060 broad.mit.edu 37 12 21997778 21997778 + Silent SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:21997778A>G uc001rfi.1 - 25 3188 c.3168T>C c.(3166-3168)ACT>ACC p.T1056T ABCC9_uc001rfh.2_Silent_p.T1056T|ABCC9_uc001rfj.1_Silent_p.T1020T NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1056 ABC transmembrane type-1 2.|Cytoplasmic (Potential). 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) TCCATTCTACAGTGAGGGATG 0.418 NaN 0 0 0 0.01441 0 53 69 CAPRIN2 65981 broad.mit.edu 37 12 30873763 30873763 + Missense_Mutation SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:30873763C>A uc001rji.1 - 12 2881 c.2130G>T c.(2128-2130)ATG>ATT p.M710I CAPRIN2_uc001rjf.1_Missense_Mutation_p.M507I|CAPRIN2_uc001rjg.1_Missense_Mutation_p.M377I|CAPRIN2_uc001rjh.1_Missense_Mutation_p.M710I|CAPRIN2_uc001rjj.1_Missense_Mutation_p.M377I|CAPRIN2_uc001rjk.3_Missense_Mutation_p.M710I|CAPRIN2_uc001rjl.3_Intron|CAPRIN2_uc001rjm.1_Intron NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 710 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCTCTGAGGTCATAAACTCTG 0.378 NaN 1 0 6.97489e-18 0.021022 8.04795e-18 36 118 SLC2A13 114134 broad.mit.edu 37 12 40499322 40499322 + Missense_Mutation SNP A A C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:40499322A>C uc010skm.1 - 1 340 c.289T>G c.(289-291)TAT>GAT p.Y97D SLC2A13_uc001rmf.2_Missense_Mutation_p.Y97D NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 97 Helical; Name=1; (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) CCGGTGTCATAGCCAAACAGG 0.592 NaN HNSCC(50;0.14) 0 0 0 0.004482 0 6 3 CNTN1 1272 broad.mit.edu 37 12 41421677 41421677 + Missense_Mutation SNP G G A rs143121881 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:41421677G>A uc001rmm.1 + 22 2842 c.2729G>A c.(2728-2730)AGG>AAG p.R910K CNTN1_uc001rmn.1_Missense_Mutation_p.R899K NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 910 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CAGCCTCCAAGGATCATCAGT 0.393 NaN 0 0 0 0.01441 0 49 26 ACVRL1 94 broad.mit.edu 37 12 52307405 52307405 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:52307405G>A uc001rzj.2 + 4 659 c.376G>A c.(376-378)GTG>ATG p.V126M ACVRL1_uc001rzk.2_Missense_Mutation_p.V126M|ACVRL1_uc010snm.1_Intron NM_000020 NP_000011 P37023 ACVL1_HUMAN activin A receptor type II-like 1 precursor 126 Helical; (Potential). blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCTGGGCCCCGTGCTGGCCTT 0.682 NaN Hereditary_Hemorrhagic_Telangiectasia 0 0 0 0.027356 0 24 10 ATP5B 506 broad.mit.edu 37 12 57039660 57039660 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:57039660G>C uc001slr.2 - 1 193 c.88C>G c.(88-90)CAG>GAG p.Q30E SNORD59B_uc001sls.1_5'Flank|SNORD59A_uc001slt.1_5'Flank NM_001686 NP_001677 P06576 ATPB_HUMAN mitochondrial ATP synthase beta subunit 30 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1) 1 AGTAAGAGCTGAGCTGGGGGC 0.657 NaN 0 0 0 0.004672 0 3 13 RB1 5925 broad.mit.edu 37 13 48947629 48947629 + Splice_Site SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr13:48947629G>T uc001vcb.2 + 12 1381 c.1215_splice c.e12+1 p.N405_splice RB1_uc010act.1_Splice_Site_p.N106_splice NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(14) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTATTTTAACGTAAGCCATAT 0.264 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 1 0 1.17004e-41 0.01441 1.41032e-41 66 54 LMO7 4008 broad.mit.edu 37 13 76427232 76427232 + Nonsense_Mutation SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr13:76427232G>T uc001vjv.2 + 25 4430 c.3670G>T c.(3670-3672)GAA>TAA p.E1224* LMO7_uc010thv.1_Nonsense_Mutation_p.E1175*|LMO7_uc010thw.1_Nonsense_Mutation_p.E1101* NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 1509 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TTTCAGAGGCGAATCTTTAGA 0.378 NaN 1 0 1.55811e-20 0.008361 1.82909e-20 27 81 BMP4 652 broad.mit.edu 37 14 54418914 54418914 + Missense_Mutation SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr14:54418914C>A uc001xal.3 - 2 214 c.27G>T c.(25-27)ATG>ATT p.M9I BMP4_uc010aoh.2_Missense_Mutation_p.M9I|BMP4_uc001xao.3_Missense_Mutation_p.M9I|BMP4_uc001xan.3_Missense_Mutation_p.M9I NM_130851 NP_570912 P12644 BMP4_HUMAN bone morphogenetic protein 4 preproprotein 9 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity 0 ATAAAACGACCATCAGCATTC 0.493 NaN 1 0 2.45108e-15 0.00874 2.75746e-15 42 65 ANGEL1 23357 broad.mit.edu 37 14 77275517 77275517 + Silent SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr14:77275517T>C uc001xsv.2 - 2 647 c.534A>G c.(532-534)CCA>CCG p.P178P ANGEL1_uc010tvf.1_Intron NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN angel homolog 1 178 ovary(2)|central_nervous_system(1)|skin(1) 4 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CCAACACCGCTGGGTCCTCTT 0.652 NaN 0 0 0 0.00499 0 15 37 ATP10A 57194 broad.mit.edu 37 15 25925012 25925012 + Missense_Mutation SNP C C A rs141308074 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr15:25925012C>A uc010ayu.2 - 21 4082 c.3976G>T c.(3976-3978)GCT>TCT p.A1326S NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1326 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CGTCCCTGAGCAAAGGTCTCT 0.597 NaN 1 0 1.02067e-35 0.01441 1.21938e-35 50 50 MAP2K1 5604 broad.mit.edu 37 15 66777338 66777338 + Missense_Mutation SNP T T A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr15:66777338T>A uc010bhq.2 + 7 1179 c.704T>A c.(703-705)CTC>CAC p.L235H MAP2K1_uc010ujp.1_Missense_Mutation_p.L213H NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 235 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 CCAGAAAGACTCCAGGGGACT 0.517 NaN Cardiofaciocutaneous_syndrome 0 0 0 0.01441 0 86 143 FBXO22 26263 broad.mit.edu 37 15 76225291 76225291 + Missense_Mutation SNP T T G rs150074021 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr15:76225291T>G uc002bbk.2 + 7 1165 c.1060T>G c.(1060-1062)TTA>GTA p.L354V FBXO22_uc002bbl.2_Missense_Mutation_p.L250V|FBXO22OS_uc002bbm.1_RNA NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN F-box only protein 22 isoform a 354 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity 0 TAGTGTTCCCTTATTCGGCTT 0.408 NaN 0 0 0 0.01441 0 49 87 ST20 400410 broad.mit.edu 37 15 80191455 80191455 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr15:80191455C>T uc002bez.3 - 3 738 c.58G>A c.(58-60)GTA>ATA p.V20I ST20_uc002bfa.3_Missense_Mutation_p.V20I|MTHFS_uc002bex.3_5'Flank NM_001100879 NP_001094349 Q9HBF5 ST20_HUMAN cervical cancer suppressor-1 20 0 AGCTTCTTTACAAAGCCATTT 0.318 NaN 0 0 0 0.008871 0 18 44 CLUAP1 23059 broad.mit.edu 37 16 3556338 3556338 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:3556338C>G uc002cvk.1 + 3 247 c.142C>G c.(142-144)CCC>GCC p.P48A CLUAP1_uc002cvj.1_Missense_Mutation_p.P48A|CLUAP1_uc002cvl.1_Missense_Mutation_p.P48A NM_015041 NP_055856 Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 isoform 1 48 nucleus protein binding ovary(1)|breast(1)|pancreas(1) 3 TAGATATGAGCCCCAGACTGA 0.483 NaN 0 0 0 0.01441 0 80 48 CREBBP 1387 broad.mit.edu 37 16 3788647 3788647 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:3788647C>T uc002cvv.2 - 26 4511 c.4307G>A c.(4306-4308)AGT>AAT p.S1436N CREBBP_uc002cvw.2_Missense_Mutation_p.S1398N NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1436 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GAAATGAATACTATCCAGATA 0.423 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.010818 0 33 11 CP110 9738 broad.mit.edu 37 16 19547561 19547561 + Silent SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:19547561C>G uc002dgl.3 + 4 817 c.570C>G c.(568-570)ACC>ACG p.T190T CP110_uc002dgk.3_Silent_p.T190T O43303 CP110_HUMAN RecName: Full=Centrosomal protein of 110 kDa; Short=Cep110; 190 CEP97 binding. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding 0 TTCCAAAGACCTCTTCAGCAA 0.393 NaN 0 0 0 0.01441 0 126 66 GP2 2813 broad.mit.edu 37 16 20337750 20337750 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:20337750G>C uc002dgv.2 - 2 87 c.4C>G c.(4-6)CCT>GCT p.P2A GP2_uc002dgw.2_Missense_Mutation_p.P2A|GP2_uc002dgx.2_Missense_Mutation_p.P2A|GP2_uc002dgy.2_Missense_Mutation_p.P2A NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 2 anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 ATAAGGTGAGGCATGCAGGTC 0.498 NaN 0 0 0 0.01441 0 68 30 FTO 79068 broad.mit.edu 37 16 53967950 53967950 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:53967950G>A uc002ehr.2 + 8 1515 c.1293G>A c.(1291-1293)AGG>AGA p.R431R FTO_uc010vha.1_Silent_p.R135R|FTO_uc010cbz.2_Silent_p.R32R|FTO_uc002ehs.2_RNA NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 431 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TGGAACAAAGGAATGAAATCT 0.428 NaN 0 0 0 0.009096 0 4 64 CDH1 999 broad.mit.edu 37 16 68842337 68842337 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:68842337C>T uc002ewg.1 + 4 522 c.398C>T c.(397-399)TCT>TTT p.S133F CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.S133F NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 133 adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GCCTCCGTTTCTGGAATCCAA 0.478 NaN Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 0 0 0 0.01441 0 51 78 HYDIN 54768 broad.mit.edu 37 16 70917863 70917863 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:70917863G>A uc002ezr.2 - 59 10064 c.9936C>T c.(9934-9936)GCC>GCT p.A3312A NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3313 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AAAGAATGCCGGCAGGGTGGA 0.488 NaN 0 0 0 0.016723 0 13 59 KRT32 3882 broad.mit.edu 37 17 39623211 39623211 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr17:39623211C>T uc002hwr.2 - 1 428 c.367G>A c.(367-369)GAG>AAG p.E123K NM_002278 NP_002269 Q14532 K1H2_HUMAN keratin 32 123 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000812) CTCTCCAGCTCCGCATTCTCC 0.572 NaN 0 0 0 0.013114 0 49 148 TLK2 11011 broad.mit.edu 37 17 60673977 60673977 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr17:60673977G>C uc010ddp.2 + 18 1826 c.1558G>C c.(1558-1560)GAG>CAG p.E520Q TLK2_uc002izx.3_Missense_Mutation_p.E346Q|TLK2_uc002izz.3_Missense_Mutation_p.E498Q|TLK2_uc002jaa.3_Missense_Mutation_p.E466Q|TLK2_uc010wpd.1_Missense_Mutation_p.E466Q NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 520 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 GATTCATAAAGAGCTGGATCA 0.373 NaN 0 0 0 0.009718 0 40 118 ARHGAP28 79822 broad.mit.edu 37 18 6876136 6876136 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr18:6876136G>C uc010wzi.1 + 9 926 c.688G>C c.(688-690)GAG>CAG p.E230Q ARHGAP28_uc002knc.2_Missense_Mutation_p.E355Q|ARHGAP28_uc002knd.2_Missense_Mutation_p.E248Q|ARHGAP28_uc002kne.2_Missense_Mutation_p.E248Q|ARHGAP28_uc002knf.2_Missense_Mutation_p.E239Q B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 230 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) CTAGTTTTTTGAGAAAGTTGA 0.318 NaN 0 0 0 0.006214 0 9 96 DSC3 1825 broad.mit.edu 37 18 28576944 28576944 + Nonsense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr18:28576944G>C uc002kwj.3 - 15 2461 c.2306C>G c.(2305-2307)TCA>TGA p.S769* DSC3_uc002kwi.3_Nonsense_Mutation_p.S769* NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 769 Cytoplasmic (Potential). homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) TTTCATTCCTGATCCCATAGT 0.433 NaN 0 0 0 0.012319 0 22 64 DCC 1630 broad.mit.edu 37 18 50450132 50450132 + Silent SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr18:50450132C>A uc002lfe.1 + 4 1340 c.753C>A c.(751-753)GCC>GCA p.A251A DCC_uc010xdr.1_Silent_p.A99A NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 251 Extracellular (Potential).|Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ATGTAGTAGCCATTGAAGGAA 0.418 NaN 1 0 1.08052e-11 0.019004 1.19566e-11 35 53 DCC 1630 broad.mit.edu 37 18 51013172 51013172 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr18:51013172G>A uc002lfe.1 + 26 4329 c.3742G>A c.(3742-3744)GTG>ATG p.V1248M DCC_uc010dpf.1_Missense_Mutation_p.V883M NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1248 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGCAGCTGTCGTGAGCGCCAT 0.488 NaN 0 0 0 0.01441 0 67 94 C19orf28 126321 broad.mit.edu 37 19 3550991 3550991 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:3550991G>A uc002lxz.2 - 2 670 c.500C>T c.(499-501)ACG>ATG p.T167M C19orf28_uc002lxw.2_Missense_Mutation_p.T167M|C19orf28_uc002lxx.2_Missense_Mutation_p.T167M|C19orf28_uc002lxy.2_Missense_Mutation_p.T158M NM_174983 NP_778148 Q6NUT3 CS028_HUMAN hypothetical protein LOC126321 isoform c 167 transmembrane transport integral to membrane breast(1)|pancreas(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGAGTGCCGTGAGCTCCAC 0.557 NaN 0 0 0 0.014323 0 23 15 CCL25 6370 broad.mit.edu 37 19 8122718 8122718 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:8122718G>C uc002mjd.2 + 4 359 c.359G>C c.(358-360)GGA>GCA p.G120A CCL25_uc002mjc.3_Missense_Mutation_p.G119A|CCL25_uc010dvy.1_Missense_Mutation_p.W75C NM_005624 NP_005615 O15444 CCL25_HUMAN small inducible cytokine A25 precursor 120 chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|hormone activity 0 ttgagttctggaaactccaag 0 NaN 0 0 0 0.009535 0 17 68 ZNF714 148206 broad.mit.edu 37 19 21300901 21300901 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:21300901G>A uc002npo.3 + 6 1794 c.1434G>A c.(1432-1434)GAG>GAA p.E478E ZNF714_uc002npl.2_Silent_p.E323E|ZNF714_uc010ecp.1_Silent_p.E429E|ZNF714_uc002npn.2_RNA NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATACTGGAGAGAAATCTTACA 0.308 NaN 0 0 0 0.020292 0 14 42 NFKBID 84807 broad.mit.edu 37 19 36387690 36387690 + Missense_Mutation SNP A A T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:36387690A>T uc002oci.1 - 6 770 c.196T>A c.(196-198)TAT>AAT p.Y66N NFKBID_uc002och.1_5'Flank|NFKBID_uc002ocj.1_Missense_Mutation_p.Y81N NM_139239 NP_640332 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene 66 ANK 1. inflammatory response nucleus 0 GCCGCAGCATATGCCGCCCAG 0.473 NaN 0 0 0 0.012319 0 20 25 FAM98C 147965 broad.mit.edu 37 19 38893808 38893808 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:38893808G>A uc002oin.1 + 1 34 c.15G>A c.(13-15)AAG>AAA p.K5K FAM98C_uc002oio.1_Silent_p.K5K|FAM98C_uc010xtz.1_Silent_p.K5K NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 5 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGCGGTGAAGGCGGAAGCGT 0.726 NaN 0 0 0 0.021553 0 4 22 ZNF230 7773 broad.mit.edu 37 19 44514476 44514476 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:44514476C>G uc002oyb.1 + 5 536 c.285C>G c.(283-285)ATC>ATG p.I95M NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 95 KRNB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) GCCAGCAAATCTGGGAACAAA 0.468 NaN 0 0 0 0.010729 0 10 62 ZNF211 10520 broad.mit.edu 37 19 58152819 58152819 + Missense_Mutation SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:58152819T>C uc002qpq.2 + 3 1145 c.965T>C c.(964-966)TTT>TCT p.F322S ZNF211_uc010yhb.1_Missense_Mutation_p.F326S|ZNF211_uc002qpp.2_Missense_Mutation_p.F335S|ZNF211_uc002qpr.2_Missense_Mutation_p.F386S|ZNF211_uc002qps.2_Missense_Mutation_p.F387S|ZNF211_uc002qpt.2_Missense_Mutation_p.F334S|ZNF211_uc010yhc.1_Missense_Mutation_p.F334S|ZNF211_uc010yhd.1_Missense_Mutation_p.F261S|ZNF211_uc010yhe.1_Missense_Mutation_p.F313S NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 322 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGGAAATCGTTTAGTCAGATA 0.418 NaN 0 0 0 0.01441 0 49 75 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 NaN 1 0 0.00198382 0.001984 0.00209231 7 20 ASB3 51130 broad.mit.edu 37 2 53992709 53992709 + Missense_Mutation SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr2:53992709T>C uc002rxg.1 - 2 136 c.1A>G c.(1-3)ATG>GTG p.M1V ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Missense_Mutation_p.M39V|ASB3_uc010yoo.1_Missense_Mutation_p.M1V|CHAC2_uc002rxk.1_5'Flank|uc002rxj.1_5'Flank NM_016115 NP_057199 Q9Y575 ASB3_HUMAN ankyrin repeat and SOCS box-containing protein 3 1 intracellular signal transduction ovary(1)|kidney(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GTAAAATCCATTTGTTTGACC 0.443 NaN 0 0 0 0.00499 0 16 107 C2orf78 388960 broad.mit.edu 37 2 74043846 74043846 + Silent SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr2:74043846G>T uc002sjr.1 + 3 2617 c.2496G>T c.(2494-2496)GTG>GTT p.V832V NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 832 ovary(2) 2 CCACTGCTGTGACCAGTCTCC 0.493 NaN 1 0 0.000442599 0.006214 0.000474214 9 69 TTN 7273 broad.mit.edu 37 2 179597433 179597433 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr2:179597433A>G uc010zfg.1 - 53 12847 c.12623T>C c.(12622-12624)TTT>TCT p.F4208S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F869S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5135 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) TTTAGTTACAAAACTGGGTGG 0.403 NaN 0 0 0 0.008291 0 11 13 COL4A4 1286 broad.mit.edu 37 2 227953429 227953429 + Silent SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr2:227953429G>T uc010zlt.1 - 22 2217 c.1563C>A c.(1561-1563)GGC>GGA p.G521G NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 521 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTCCAAGCCAGCCAGGGAGCC 0.587 NaN 1 0 9.4957e-49 0.01441 1.15488e-48 111 71 ProSAPiP1 9762 broad.mit.edu 37 20 3147630 3147630 + Silent SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr20:3147630C>T uc002wia.1 - 1 1578 c.180G>A c.(178-180)GGG>GGA p.G60G ProSAPiP1_uc002wib.1_Silent_p.G60G NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 60 Poly-Gly. cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 TGCCCCCACCCCCTGTGCGGG 0.716 NaN 0 0 0 0.010729 0 11 19 CD93 22918 broad.mit.edu 37 20 23066316 23066316 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr20:23066316C>T uc002wsv.2 - 1 662 c.514G>A c.(514-516)GGA>AGA p.G172R NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 172 Extracellular (Potential).|C-type lectin. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) ATGTTACTTCCGGGGGAGCCT 0.652 NaN 0 0 0 0.016723 0 12 111 EMILIN3 90187 broad.mit.edu 37 20 39992445 39992445 + Missense_Mutation SNP A A T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr20:39992445A>T uc002xjy.1 - 3 571 c.347T>A c.(346-348)CTC>CAC p.L116H NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 116 EMI. proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) ACGCCAGGCGAGGTCTGTCAC 0.617 NaN 0 0 0 0.01441 0 61 136 MMP9 4318 broad.mit.edu 37 20 44640354 44640354 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr20:44640354G>A uc002xqz.2 + 6 984 c.965G>A c.(964-966)CGG>CAG p.R322Q NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 322 Fibronectin type-II 2. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) AACTACGACCGGGACAAGCTC 0.627 NaN OREG0025989 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 5 28 SON 6651 broad.mit.edu 37 21 34926719 34926719 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr21:34926719A>G uc002yse.1 + 3 5231 c.5182A>G c.(5182-5184)ATT>GTT p.I1728V SON_uc002ysb.1_Missense_Mutation_p.I1728V|SON_uc002ysc.2_Missense_Mutation_p.I1728V|SON_uc002ysd.2_Missense_Mutation_p.I719V|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.I719V NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 1728 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 TATTGAGGATATTAATGAAGC 0.433 NaN 0 0 0 0.01441 0 78 150 PCNT 5116 broad.mit.edu 37 21 47783573 47783573 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr21:47783573C>G uc002zji.3 + 14 2440 c.2333C>G c.(2332-2334)GCT>GGT p.A778G PCNT_uc002zjj.2_Missense_Mutation_p.A660G NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 778 Glu-rich.|Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) AGAGAAAAGGCTGAATCCGAG 0.463 NaN 0 0 0 0.024245 0 15 149 POTEH 23784 broad.mit.edu 37 22 16279260 16279260 + Silent SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr22:16279260T>C uc010gqp.2 - 4 1015 c.963A>G c.(961-963)AAA>AAG p.K321K POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Silent_p.K40K|POTEH_uc002zlj.1_Silent_p.K156K NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 321 ANK 5. skin(1) 1 CCACTTGCTGTTTTTGCTCAT 0.323 NaN 0 0 0 0.015359 0 32 446 SLC5A4 6527 broad.mit.edu 37 22 32647856 32647856 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr22:32647856G>A uc003ami.2 - 3 215 c.213C>T c.(211-213)GGC>GGT p.G71G NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 71 Helical; (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 AGAGAGAGGCGCCCATCTGGA 0.438 NaN 0 0 0 0.01441 0 44 35 FBLN2 2199 broad.mit.edu 37 3 13669333 13669333 + Silent SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:13669333C>T uc011avb.1 + 10 2417 c.2292C>T c.(2290-2292)GAC>GAT p.D764D FBLN2_uc011auz.1_Silent_p.D790D|FBLN2_uc011ava.1_Silent_p.D811D|FBLN2_uc011avc.1_Silent_p.D811D NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 764 EGF-like 4; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CCGCTGCAGACGTGGATGAGT 0.652 NaN 0 0 0 0.016723 0 12 24 ITGA9 3680 broad.mit.edu 37 3 37826549 37826549 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:37826549G>C uc003chd.2 + 26 2922 c.2869G>C c.(2869-2871)GGG>CGG p.G957R NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 957 Extracellular (Potential). axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) AATAGCTCATGGGAACCCAGA 0.562 NaN 0 0 0 0.014323 0 21 67 PLXNB1 5364 broad.mit.edu 37 3 48453976 48453976 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:48453976G>A uc003csw.2 - 26 5178 c.4908C>T c.(4906-4908)TAC>TAT p.Y1636Y PLXNB1_uc003cst.2_Silent_p.Y86Y|PLXNB1_uc003csu.2_Silent_p.Y1453Y|PLXNB1_uc003csx.2_Silent_p.Y1636Y NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 1636 Cytoplasmic (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GAGATGCCACGTAGGCACGGT 0.572 NaN 0 0 0 0.00499 0 18 58 COL7A1 1294 broad.mit.edu 37 3 48605196 48605196 + Nonsense_Mutation SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:48605196C>A uc003ctz.2 - 107 7931 c.7930G>T c.(7930-7932)GGA>TGA p.G2644* NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2644 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCAGCTTCTCCCTGCAGGCAT 0.672 NaN 1 0 5.99346e-17 0.01441 6.85692e-17 54 139 LRIG1 26018 broad.mit.edu 37 3 66430809 66430809 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:66430809A>G uc003dmx.2 - 19 3174 c.3160T>C c.(3160-3162)TAC>CAC p.Y1054H SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.Y674H|LRIG1_uc003dmw.2_Missense_Mutation_p.Y720H|LRIG1_uc010hnz.2_Missense_Mutation_p.Y770H|LRIG1_uc010hoa.2_Missense_Mutation_p.Y1031H NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 1054 Cytoplasmic (Potential). integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) ACAAGCAAGTACTGGGCTTCC 0.567 NaN 0 0 0 0.025465 0 38 131 GPR128 84873 broad.mit.edu 37 3 100364943 100364943 + Silent SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:100364943T>C uc003duc.2 + 9 1369 c.1101T>C c.(1099-1101)TTT>TTC p.F367F GPR128_uc011bhc.1_Silent_p.F68F NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 367 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 ACATGGTCTTTAGTCCAAAGG 0.378 NaN 0 0 0 0.012213 0 29 51 STXBP5L 9515 broad.mit.edu 37 3 120973778 120973778 + Missense_Mutation SNP A A T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:120973778A>T uc003eec.3 + 16 1618 c.1478A>T c.(1477-1479)AAA>ATA p.K493I STXBP5L_uc011bji.1_Missense_Mutation_p.K493I NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 493 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) AAAACTTCAAAAGTGTTTGAA 0.348 NaN 0 0 0 0.013537 0 11 21 ACPP 55 broad.mit.edu 37 3 132050577 132050577 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:132050577G>A uc010htp.2 + 3 393 c.303G>A c.(301-303)CAG>CAA p.Q101Q ACPP_uc003eon.3_Silent_p.Q101Q|ACPP_uc003eop.3_Silent_p.Q101Q NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 101 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 AACATGAACAGGCAAGTTGGG 0.348 NaN 0 0 0 0.004482 0 8 21 ZNF639 51193 broad.mit.edu 37 3 179050893 179050893 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:179050893C>T uc003fjq.1 + 5 629 c.286C>T c.(286-288)CAC>TAC p.H96Y ZNF639_uc003fjr.1_Missense_Mutation_p.H96Y NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 96 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) aattctagaccacactgcctT 0.119 NaN 0 0 0 0.001984 0 7 13 SLC4A4 8671 broad.mit.edu 37 4 72399971 72399971 + Missense_Mutation SNP G G A rs150967020 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr4:72399971G>A uc003hfy.2 + 18 2425 c.2308G>A c.(2308-2310)GTT>ATT p.V770I SLC4A4_uc010iic.2_Missense_Mutation_p.V770I|SLC4A4_uc010iib.2_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V726I|SLC4A4_uc010iid.2_5'UTR NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 770 Interaction with CA4.|Extracellular (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGGTTGGTTCGTTCCACCGTT 0.423 NaN 0 0 0 0.008871 0 19 32 INTU 27152 broad.mit.edu 37 4 128632073 128632073 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr4:128632073C>T uc003ifk.1 + 14 2445 c.2375C>T c.(2374-2376)ACA>ATA p.T792I INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 792 ovary(1) 1 TTAAGACTGACATCTGGTCCT 0.333 NaN 0 0 0 0.01441 0 48 30 USP38 84640 broad.mit.edu 37 4 144134859 144134859 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr4:144134859G>A uc003ijb.2 + 9 2264 c.1730G>A c.(1729-1731)CGT>CAT p.R577H USP38_uc003ija.3_Missense_Mutation_p.R577H|USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 577 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) GAGACCCCTCGTACAAGTGAC 0.413 NaN 0 0 0 0.00308 0 7 43 FBXW7 55294 broad.mit.edu 37 4 153253770 153253770 + Nonsense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr4:153253770C>T uc003ims.2 - 6 1112 c.963G>A c.(961-963)TGG>TGA p.W321* FBXW7_uc011cii.1_Nonsense_Mutation_p.W321*|FBXW7_uc003imt.2_Nonsense_Mutation_p.W321*|FBXW7_uc011cih.1_Nonsense_Mutation_p.W145*|FBXW7_uc003imq.2_Nonsense_Mutation_p.W241*|FBXW7_uc003imr.2_Nonsense_Mutation_p.W203* NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 321 F-box. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATTTCTCTCTCCAGAGAAGGT 0.393 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.013726 0 32 19 HCN1 348980 broad.mit.edu 37 5 45303773 45303773 + Nonsense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr5:45303773G>A uc003jok.2 - 6 1571 c.1546C>T c.(1546-1548)CAA>TAA p.Q516* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 516 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 ACACCGTGTTGAATGAAATAC 0.388 NaN 0 0 0 0.006214 0 10 116 MAP1B 4131 broad.mit.edu 37 5 71494957 71494957 + Silent SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr5:71494957C>G uc003kbw.3 + 5 6016 c.5775C>G c.(5773-5775)ACC>ACG p.T1925T MAP1B_uc010iyw.1_Silent_p.T1942T|MAP1B_uc010iyx.1_Silent_p.T1799T|MAP1B_uc010iyy.1_Silent_p.T1799T NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1925 MAP1B 3. microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CCTATGAGACCATTGGGAAAA 0.463 NaN 0 0 0 0.00308 0 8 71 KDM3B 51780 broad.mit.edu 37 5 137761206 137761206 + Missense_Mutation SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr5:137761206G>T uc003lcy.1 + 17 4546 c.4346G>T c.(4345-4347)AGG>ATG p.R1449M KDM3B_uc010jew.1_Missense_Mutation_p.R1105M|KDM3B_uc011cys.1_Missense_Mutation_p.R481M NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1449 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 GTGAACTGCAGGAACTGTGCT 0.448 NaN 1 0 1.61788e-16 0.012213 1.83541e-16 33 111 OR10C1 442194 broad.mit.edu 37 6 29408490 29408490 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr6:29408490G>A uc011dlp.1 + 1 698 c.698G>A c.(697-699)CGC>CAC p.R233H OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTTGCGGGCCGCCGCAAGGCC 0.587 NaN 0 0 0 0.017118 0 32 313 GPR111 222611 broad.mit.edu 37 6 47649716 47649716 + Missense_Mutation SNP A A T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr6:47649716A>T uc010jzj.1 + 6 1422 c.1421A>T c.(1420-1422)CAA>CTA p.Q474L GPR111_uc010jzk.1_Missense_Mutation_p.Q406L|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 474 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GTCTGGAGCCAAGTGACAAAG 0.448 NaN 0 0 0 0.01441 0 68 63 AHR 196 broad.mit.edu 37 7 17378759 17378759 + Missense_Mutation SNP G G T rs138430398 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:17378759G>T uc011jxz.1 + 10 1923 c.1310G>T c.(1309-1311)GGA>GTA p.G437V AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 437 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) GGCACTAGTGGAAAAGACTCT 0.438 NaN 1 0 3.03874e-20 0.015359 3.53646e-20 35 65 PDE1C 5137 broad.mit.edu 37 7 31912954 31912954 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:31912954A>G uc003tcm.1 - 6 1029 c.560T>C c.(559-561)TTT>TCT p.F187S PDE1C_uc003tcn.1_Missense_Mutation_p.F187S|PDE1C_uc003tco.1_Missense_Mutation_p.F247S|PDE1C_uc003tcr.2_Missense_Mutation_p.F187S|PDE1C_uc003tcs.2_Missense_Mutation_p.F187S NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 187 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) ATAGAAAATAAATTTCAGTGC 0.398 NaN 0 0 0 0.007291 0 25 32 SEMA3A 10371 broad.mit.edu 37 7 83675657 83675657 + Missense_Mutation SNP T T A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:83675657T>A uc003uhz.2 - 6 965 c.650A>T c.(649-651)GAT>GTT p.D217V NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 217 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 CCACCTGGAATCATGCTGCTC 0.428 NaN 0 0 0 0.008871 0 17 139 ZKSCAN5 23660 broad.mit.edu 37 7 99117480 99117480 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:99117480C>T uc003uqv.2 + 4 708 c.584C>T c.(583-585)CCC>CTC p.P195L ZKSCAN5_uc010lfx.2_Missense_Mutation_p.P195L|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.P195L|ZKSCAN5_uc003uqx.2_Intron|ZKSCAN5_uc003uqy.2_5'UTR NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 195 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CCTTCCCTTCCCCTGAAGGAC 0.532 NaN 0 0 0 0.012213 0 28 91 FBXO24 26261 broad.mit.edu 37 7 100189393 100189393 + Silent SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:100189393C>T uc003uvm.1 + 4 719 c.426C>T c.(424-426)ACC>ACT p.T142T FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Silent_p.T128T|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Silent_p.T180T|FBXO24_uc011kka.1_Silent_p.T130T NM_033506 NP_277041 O75426 FBX24_HUMAN F-box only protein 24 isoform 1 142 ubiquitin ligase complex ubiquitin-protein ligase activity ovary(3)|skin(1) 4 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TCTTGCCCACCAAGGATCACG 0.607 NaN 0 0 0 0.01441 0 41 66 RELN 5649 broad.mit.edu 37 7 103243875 103243875 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:103243875A>G uc003vca.2 - 24 3369 c.3209T>C c.(3208-3210)ATG>ACG p.M1070T RELN_uc010liz.2_Missense_Mutation_p.M1070T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1070 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAAATCTGACATAATTGTGGA 0.507 NaN 0 0 0 0.009535 0 31 93 RNF133 168433 broad.mit.edu 37 7 122338738 122338738 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:122338738C>G uc003vkj.1 - 1 471 c.235G>C c.(235-237)GAG>CAG p.E79Q CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 79 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 ATTTTTCCCTCTGGTGGCACT 0.448 NaN 0 0 0 0.019004 0 38 94 ANK1 286 broad.mit.edu 37 8 41615618 41615618 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr8:41615618G>A uc003xok.2 - 2 149 c.65C>T c.(64-66)TCA>TTA p.S22L NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.S22L|ANK1_uc003xoj.2_Missense_Mutation_p.S22L|ANK1_uc003xol.2_Missense_Mutation_p.S22L|ANK1_uc003xom.2_Missense_Mutation_p.S55L NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 22 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CAAGTTACCTGATCTTGCTGC 0.507 NaN 0 0 0 0.01441 0 63 297 ADCY8 114 broad.mit.edu 37 8 131861957 131861957 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr8:131861957G>C uc003ytd.3 - 10 2559 c.2303C>G c.(2302-2304)CCC>CGC p.P768R ADCY8_uc010mds.2_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 768 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 integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GAGGATGAGGGGCAAACATTT 0.473 NaN HNSCC(32;0.087) 0 0 0 0.020292 0 15 41 ARHGAP39 80728 broad.mit.edu 37 8 145770746 145770746 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr8:145770746C>T uc003zdt.1 - 7 2963 c.2408G>A c.(2407-2409)CGC>CAC p.R803H ARHGAP39_uc011llk.1_Missense_Mutation_p.R803H|ARHGAP39_uc003zds.1_Missense_Mutation_p.R803H NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 803 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 CTCCCAGCCGCGGGCCAGGCT 0.662 NaN 0 0 0 0.008291 0 10 99 FRMPD1 22844 broad.mit.edu 37 9 37746199 37746199 + Silent SNP C C T rs147765962 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:37746199C>T uc004aag.1 + 16 4214 c.4170C>T c.(4168-4170)ACC>ACT p.T1390T FRMPD1_uc004aah.1_Silent_p.T1390T NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1390 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) GCTGCACCACCGCACCCCTGT 0.662 NaN 0 0 0 0.01441 0 66 71 C9orf41 138199 broad.mit.edu 37 9 77642968 77642968 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:77642968C>T uc004ajq.2 - 1 343 c.190G>A c.(190-192)GAG>AAG p.E64K C9orf41_uc011lsi.1_RNA NM_152420 NP_689633 Q8N4J0 CI041_HUMAN hypothetical protein LOC138199 64 ovary(1)|skin(1) 2 CAGAAGTGCTCACGCTCAAGC 0.557 NaN 0 0 0 0.009096 0 4 10 C9orf41 138199 broad.mit.edu 37 9 77642970 77642970 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:77642970C>T uc004ajq.2 - 1 341 c.188G>A c.(187-189)CGT>CAT p.R63H C9orf41_uc011lsi.1_RNA NM_152420 NP_689633 Q8N4J0 CI041_HUMAN hypothetical protein LOC138199 63 ovary(1)|skin(1) 2 GAAGTGCTCACGCTCAAGCCT 0.557 NaN 0 0 0 0.009096 0 4 10 GCNT1 2650 broad.mit.edu 37 9 79118499 79118499 + Missense_Mutation SNP A A C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:79118499A>C uc010mpf.2 + 3 1543 c.1202A>C c.(1201-1203)AAG>ACG p.K401T GCNT1_uc010mpg.2_Missense_Mutation_p.K401T|GCNT1_uc010mph.2_Missense_Mutation_p.K401T|GCNT1_uc004akf.3_Missense_Mutation_p.K401T|GCNT1_uc010mpi.2_Missense_Mutation_p.K401T|GCNT1_uc004akh.3_Missense_Mutation_p.K401T NM_001490 NP_001481 Q02742 GCNT1_HUMAN beta-1,3-galactosyl-O-glycosyl-glycoprotein 401 Lumenal (Potential).|Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity 0 TTTGCCAATAAGTTTGACGTG 0.488 NaN 0 0 0 0.007413 0 19 142 AGTPBP1 23287 broad.mit.edu 37 9 88272367 88272367 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:88272367G>A uc011ltd.1 - 9 925 c.892C>T c.(892-894)CTG>TTG p.L298L AGTPBP1_uc011ltc.1_Silent_p.L196L|AGTPBP1_uc010mqc.2_Silent_p.L298L|AGTPBP1_uc011lte.1_Silent_p.L350L NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 298 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 GTATTATACAGAATTTTCATC 0.289 NaN 0 0 0 0.00308 0 7 52 CDK20 23552 broad.mit.edu 37 9 90584799 90584799 + Missense_Mutation SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:90584799C>A uc004apr.2 - 6 905 c.599G>T c.(598-600)GGG>GTG p.G200V CDK20_uc004aps.2_Missense_Mutation_p.G179V|CDK20_uc004apt.2_Missense_Mutation_p.G192V|CDK20_uc004apu.2_Intron NM_001039803 NP_001034892 Q8IZL9 CDK20_HUMAN cell cycle related kinase isoform 3 200 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 AAGGGGGGACCCATTCAACAG 0.577 NaN 1 0 4.88506e-25 0.01441 5.78493e-25 60 103 TMEM47 83604 broad.mit.edu 37 X 34657461 34657461 + Silent SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chrX:34657461G>T uc004ddh.2 - 2 529 c.270C>A c.(268-270)GCC>GCA p.A90A TMEM47_uc010ngs.2_RNA NM_031442 NP_113630 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 90 Helical; (Potential). integral to membrane lung(1) 1 TGAGAATGATGGCAGCGCCGC 0.448 NaN 1 0 3.09899e-07 0.004482 3.3469e-07 8 7 BCOR 54880 broad.mit.edu 37 X 39933138 39933138 + Silent SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chrX:39933138T>C uc004den.3 - 4 1753 c.1461A>G c.(1459-1461)CTA>CTG p.L487L BCOR_uc004dep.3_Silent_p.L487L|BCOR_uc004deo.3_Silent_p.L487L|BCOR_uc004dem.3_Silent_p.L487L|BCOR_uc004deq.3_Silent_p.L487L NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 487 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CTGGAGGAGATAGTGTTTCTT 0.512 NaN 0 0 0 0.009718 0 44 18 ABCD1 215 broad.mit.edu 37 X 152994806 152994806 + Silent SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chrX:152994806C>T uc004fif.2 + 2 1419 c.1020C>T c.(1018-1020)AGC>AGT p.S340S NM_000033 NP_000024 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 340 ABC transmembrane type-1.|Helical; (Potential). fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATGTGTGGAGCGCCTCGGGCC 0.597 NaN 0 0 0 0.028581 0 14 110 LHX9 56956 broad.mit.edu 37 1 197881675 197881675 + Frame_Shift_Del DEL C C - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:197881675delC uc001gui.1 + 1 41 c.14delC c.(13-15)ACCfs p.T5fs LHX9_uc009wzc.1_RNA NM_001014434 NP_001014434 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 2 Error:Variant_position_missing_in_Q9NQ69_after_alignment motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CTGAACGGTACCACTCTAGAG 0.567 NaN NaN NaN NaN NaN NaN 91 139 --- --- OR13G1 441933 broad.mit.edu 37 1 247835572 247835572 + Frame_Shift_Del DEL G G - rs117404602 by1000genomes TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:247835572delG uc001idi.1 - 1 772 c.772delC c.(772-774)CGCfs p.R258fs NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 258 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GAAGCAGGGCGGATATAGGTG 0.463 NaN NaN NaN NaN NaN NaN 62 70 --- --- FAM21A 387680 broad.mit.edu 37 10 51855357 51855359 + Splice_Site DEL AGG AGG - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr10:51855357_51855359delAGG uc001jjb.2 + 15 1323 c.1241_splice c.e15-1 p.G414_splice FAM21A_uc001jja.1_Splice_Site_p.G166_splice|FAM21A_uc010qhi.1_Splice_Site_p.G414_splice|FAM21A_uc010qhj.1_Splice_Site_p.G414_splice|FAM21B_uc009xoq.2_Splice_Site_p.G326_splice NM_001005751 NP_001005751 Q641Q2 FA21A_HUMAN hypothetical protein LOC387680 retrograde transport, endosome to Golgi early endosome membrane|WASH complex ovary(1) 1 TTCCACCCACAGGAGACACGGAT 0.512 NaN NaN NaN NaN NaN NaN 17 38 --- --- OR52K1 390036 broad.mit.edu 37 11 4510227 4510227 + Frame_Shift_Del DEL T T - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr11:4510227delT uc001lza.1 + 1 97 c.97delT c.(97-99)TTCfs p.F33fs NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CTCCATCCCCTTCTGCTTTGC 0.498 NaN NaN NaN NaN NaN NaN 99 63 --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + Frame_Shift_Ins INS - - T rs68192524 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr11:102738795_102738796insT uc001phk.2 - 5 674_675 c.629_630insA c.(628-630)ACCfs p.T210fs NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 210 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 NaN NaN NaN NaN NaN NaN 15 221 --- --- USP5 8078 broad.mit.edu 37 12 6973255 6973287 + In_Frame_Del DEL GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:6973255_6973287delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT uc001qri.3 + 17 2199_2231 c.2140_2172delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT c.(2140-2172)GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCTdel p.GSTSAAADPPP714del USP5_uc001qrh.3_In_Frame_Del_p.GSTSAAADPPP691del NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 714_724 UBA 2. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding p.D698N(1) lung(2)|breast(1)|skin(1) 4 TAGTGGGCCGGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCTGAGGACTGTG 0.635 NaN NaN NaN NaN NaN NaN 7 188 --- --- AVPR1A 552 broad.mit.edu 37 12 63543915 63543926 + In_Frame_Del DEL GGTACCCAAGAT GGTACCCAAGAT - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:63543915_63543926delGGTACCCAAGAT uc001sro.1 - 1 2665_2676 c.691_702delATCTTGGGTACC c.(691-702)ATCTTGGGTACCdel p.ILGT231del NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 231_234 Helical; Name=5; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) AGCCGTAGCAGGTACCCAAGATGACCACGGGC 0.632 NaN NaN NaN NaN NaN NaN 36 74 --- --- VPS33A 65082 broad.mit.edu 37 12 122745915 122745919 + Frame_Shift_Del DEL TCAAC TCAAC - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:122745915_122745919delTCAAC uc001ucd.2 - 4 485_489 c.372_376delGTTGA c.(370-378)CGGTTGAAGfs p.R124fs VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Frame_Shift_Del_p.R124fs NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 124_126 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CCCAGATCCTTCAACCGCTGTTCGC 0.473 NaN NaN NaN NaN NaN NaN 55 131 --- --- NEK3 4752 broad.mit.edu 37 13 52707832 52707832 + Frame_Shift_Del DEL C C - rs34488913 by1000genomes TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr13:52707832delC uc001vgi.2 - 17 1664 c.1429delG c.(1429-1431)GAGfs p.E477fs NEK3_uc001vgg.2_Frame_Shift_Del_p.E454fs|NEK3_uc001vgh.2_Frame_Shift_Del_p.E481fs|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Frame_Shift_Del_p.E460fs NM_152720 NP_689933 P51956 NEK3_HUMAN NIMA-related kinase 3 isoform a 477 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) TACGTGTCCTCCTCATCTAGC 0.408 NaN NaN NaN NaN NaN NaN 2 4 --- --- SMTNL2 342527 broad.mit.edu 37 17 4510756 4510756 + Frame_Shift_Del DEL T T - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr17:4510756delT uc002fyf.1 + 8 1427 c.1360delT c.(1360-1362)TACfs p.Y454fs SMTNL2_uc002fye.2_Frame_Shift_Del_p.Y310fs|uc002fyg.1_5'Flank NM_001114974 NP_001108446 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 isoform 1 454 CH. 0 READ - Rectum adenocarcinoma(115;0.0325) CCAGTCGCTGTACAACCACCT 0.612 NaN NaN NaN NaN NaN NaN 117 91 --- --- HCRT 3060 broad.mit.edu 37 17 40336501 40336503 + In_Frame_Del DEL GCA GCA - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr17:40336501_40336503delGCA uc002hzc.1 - 2 152_154 c.65_67delTGC c.(64-69)CTGCCG>CCG p.L22del NM_001524 NP_001515 O43612 OREX_HUMAN orexin precursor 22 neuropeptide signaling pathway cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle 0 all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069) BRCA - Breast invasive adenocarcinoma(366;0.124) AGCGCGGgcggcagcagcagcag 0.606 NaN NaN NaN NaN NaN NaN 4 8 --- --- RECQL5 9400 broad.mit.edu 37 17 73626918 73626919 + Splice_Site INS - - TG rs142406301 by1000genomes TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr17:73626918_73626919insTG uc010dgl.2 - 12 1742 c.1586_splice c.e12-1 p.D529_splice RECQL5_uc010dgk.2_Splice_Site_p.D502_splice|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CAGTTCTCATCTGTGGGGGGGG 0.644 NaN Other_identified_genes_with_known_or_suspected_DNA_repair_function NaN NaN NaN NaN NaN 5 10 --- --- FAM126B 285172 broad.mit.edu 37 2 201846351 201846351 + Frame_Shift_Del DEL G G - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr2:201846351delG uc002uws.3 - 12 1423 c.1235delC c.(1234-1236)CCAfs p.P412fs FAM126B_uc002uwu.2_Frame_Shift_Del_p.P386fs|FAM126B_uc002uwv.2_Frame_Shift_Del_p.P412fs NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 412 intracellular ovary(1) 1 AAGATCAGTTGGTTGCTGTAC 0.478 NaN NaN NaN NaN NaN NaN 9 67 --- --- CSNK1E 1454 broad.mit.edu 37 22 38696882 38696883 + Frame_Shift_Del DEL GC GC - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr22:38696882_38696883delGC uc003avj.2 - 5 672_673 c.411_412delGC c.(409-414)GGGCTGfs p.G137fs CSNK1E_uc003avk.2_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avo.2_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avp.1_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avq.1_Frame_Shift_Del_p.G137fs NM_152221 NP_689407 P49674 KC1E_HUMAN casein kinase 1 epsilon 137_138 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1) 3 Melanoma(58;0.045) TTCTTCCCCAGCCCCATGAGGA 0.569 NaN NaN NaN NaN NaN NaN 72 68 --- --- CACNA1F 778 broad.mit.edu 37 X 49089732 49089749 + Splice_Site DEL GAAGGATTCTCTCACCTT GAAGGATTCTCTCACCTT - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chrX:49089732_49089749delGAAGGATTCTCTCACCTT uc004dnb.2 - 1 87 c.25_splice c.e1+1 p.D9_splice CACNA1F_uc010nip.2_Splice_Site_p.D9_splice|CCDC22_uc011mna.1_5'Flank|CCDC22_uc004dnc.1_5'Flank|CCDC22_uc004dnd.1_5'Flank NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) TGCAGGGATGGAAGGATTCTCTCACCTTTCCCGCCTTC 0.578 NaN NaN NaN NaN NaN NaN 11 26 --- ---