Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut RLF 6018 broad.mit.edu 37 1 40703344 40703344 + Silent SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr1:40703344G>A uc001cfc.3 + 8 3001 c.2970G>A c.(2968-2970)ACG>ACA p.T990T RLF_uc001cfd.3_Silent_p.T681T NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 990 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AGATAAAGACGAAAGATCTGT 0.408 NA 12 55 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 186072800 186072800 + Silent SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr1:186072800G>A uc001grq.1 + 69 10999 c.10770G>A c.(10768-10770)CAG>CAA p.Q3590Q NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3590 Ig-like C2-type 34. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CTACTGCTCAGGTAAGTGTCA 0.393 NA 7 30 0 0 0 0 HIF1AN 55662 broad.mit.edu 37 10 102296171 102296171 + Missense_Mutation SNP C C A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr10:102296171C>A uc001krj.3 + 2 256 c.181C>A c.(181-183)CCT>ACT p.P61T NM_017902 NP_060372 Q9NWT6 HIF1N_HUMAN hypoxia-inducible factor 1, alpha subunit 61 Interaction with VHL. 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|peptide-aspartate beta-dioxygenase activity|protein binding 0 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) CATTTAGGAGCCTGTGGTGCT 0.458 NA 22 104 1.5e-11 1.73e-11 1 0 LBX1 10660 broad.mit.edu 37 10 102987175 102987175 + Missense_Mutation SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr10:102987175C>T uc001ksx.2 - 2 843 c.698G>A c.(697-699)GGC>GAC p.G233D uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 233 muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) GACCGGAGAGCCGGGCCTCGA 0.756 NA 6 21 0 0 0 0 CYB5R2 51700 broad.mit.edu 37 11 7689764 7689764 + Silent SNP C C A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr11:7689764C>A uc001mfm.2 - 6 655 c.417G>T c.(415-417)ACG>ACT p.T139T CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.T139T|CYB5R2_uc009yfl.1_3'UTR NM_016229 NP_057313 Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase b5R.2 139 sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity 0 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TAGGCTCACTCGTCTGGTCTG 0.507 NA 27 104 9.65e-13 1.12e-12 1 0 RASGRP2 10235 broad.mit.edu 37 11 64508502 64508502 + Missense_Mutation SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr11:64508502C>T uc009ypu.2 - 5 516 c.289G>A c.(289-291)GCT>ACT p.A97T RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Missense_Mutation_p.A97T|RASGRP2_uc009ypw.2_Missense_Mutation_p.A97T NM_001098671 NP_001092141 Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 97 N-terminal Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity 0 ATCTGCTCAGCCAACTCCGGG 0.597 NA OREG0004006 type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 35 0 0 0 0 KLRC2 3822 broad.mit.edu 37 12 10584759 10584759 + Missense_Mutation SNP C C A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr12:10584759C>A uc001qyk.2 - 5 537 c.530G>T c.(529-531)CGT>CTT p.R177L KLRC3_uc001qyh.2_Intron|KLRC2_uc010she.1_Missense_Mutation_p.R177L NM_002260 NP_002251 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, 177 Extracellular (Potential).|C-type lectin. cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity 0 ACTGCTGTTACGAAACACACC 0.294 NA 11 26 2.49e-13 2.9e-13 1 0 HIST4H4 121504 broad.mit.edu 37 12 14923918 14923918 + Missense_Mutation SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr12:14923918G>A uc001rcf.3 - 1 148 c.101C>T c.(100-102)GCG>GTG p.A34V HIST4H4_uc001rce.2_RNA NM_175054 NP_778224 P62805 H4_HUMAN histone cluster 4, H4 34 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 ACGGCGAATCGCCGGCTTTGT 0.607 NA OREG0021698 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 52 0 0 0 0 OR4M1 441670 broad.mit.edu 37 14 20249043 20249043 + Missense_Mutation SNP G G T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr14:20249043G>T uc010tku.1 + 1 562 c.562G>T c.(562-564)GCC>TCC p.A188S NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 188 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTCCGGATTGCCTGTGCCAA 0.458 NA 21 268 1.64e-13 1.93e-13 1 0 OCA2 4948 broad.mit.edu 37 15 28230313 28230313 + Missense_Mutation SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr15:28230313G>A uc001zbh.3 - 13 1371 c.1261C>T c.(1261-1263)CGG>TGG p.R421W OCA2_uc010ayv.2_Missense_Mutation_p.R397W NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 421 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCCCACACCCGTCCCCGGGAG 0.572 NA Oculocutaneous_Albinism 4 11 0 0 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29891363 29891363 + Silent SNP G G A rs112977823 TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr16:29891363G>A uc002duq.3 - 9 1635 c.1395C>T c.(1393-1395)TTC>TTT p.F465F uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.F395F|SEZ6L2_uc002dur.3_Silent_p.F395F|SEZ6L2_uc002dus.3_Silent_p.F351F|SEZ6L2_uc010vec.1_Silent_p.F465F|SEZ6L2_uc010ved.1_Silent_p.F421F NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 465 Sushi 2.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 GGAAGGGGGCGAAGCAGCGAT 0.547 NA 10 29 0 0 0 0 DDX19A 55308 broad.mit.edu 37 16 70404240 70404240 + Nonsense_Mutation SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr16:70404240C>T uc002eyv.2 + 10 1206 c.1135C>T c.(1135-1137)CGA>TGA p.R379* DDX19B_uc010vly.1_Nonsense_Mutation_p.R380*|DDX19A_uc002eys.2_Nonsense_Mutation_p.R380*|DDX19A_uc010cfq.1_Nonsense_Mutation_p.R134*|DDX19A_uc010cfr.2_Nonsense_Mutation_p.R229*|DDX19A_uc010cfs.2_Nonsense_Mutation_p.R202*|DDX19A_uc010vlz.1_Nonsense_Mutation_p.R348*|DDX19A_uc010vma.1_Nonsense_Mutation_p.R289* NM_018332 NP_060802 Q9NUU7 DD19A_HUMAN DDX19-like protein 379 Helicase C-terminal. mRNA transport|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|RNA binding 0 Ovarian(137;0.221) TGAGCGCTTCCGAGAGGGCAA 0.622 NA 3 29 0 0 0 0 GGNBP2 79893 broad.mit.edu 37 17 34935802 34935802 + Nonsense_Mutation SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr17:34935802C>T uc002hnb.2 + 8 1222 c.973C>T c.(973-975)CAG>TAG p.Q325* GGNBP2_uc002hna.2_Nonsense_Mutation_p.Q325*|GGNBP2_uc002hnc.1_Nonsense_Mutation_p.Q154* NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 325 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GCAGACATGGCAGATGCTTTT 0.433 NA 7 120 0 0 0 0 CWC25 54883 broad.mit.edu 37 17 36963178 36963178 + Missense_Mutation SNP G G C TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr17:36963178G>C uc002hqu.2 - 7 895 c.742C>G c.(742-744)CAA>GAA p.Q248E CWC25_uc010wdv.1_Missense_Mutation_p.Q185E|CWC25_uc010wdw.1_RNA|CWC25_uc010wdx.1_RNA NM_017748 NP_060218 Q9NXE8 CWC25_HUMAN coiled-coil domain containing 49 248 0 CCTCTCTTTTGCTCTGCTGTC 0.507 NA 13 57 0 0 0 0 GRN 2896 broad.mit.edu 37 17 42430078 42430078 + Missense_Mutation SNP G G T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr17:42430078G>T uc002igp.1 + 13 1913 c.1694G>T c.(1693-1695)TGC>TTC p.C565F GRN_uc002igr.1_3'UTR NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 565 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GGCTTCCGCTGCGCAGCCAGG 0.667 NA 10 62 7.48e-07 8.39e-07 1 0 ABCA8 10351 broad.mit.edu 37 17 66883568 66883568 + Missense_Mutation SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr17:66883568G>A uc002jhp.2 - 23 3283 c.3104C>T c.(3103-3105)TCC>TTC p.S1035F ABCA8_uc002jhq.2_Missense_Mutation_p.S1075F|ABCA8_uc010wqq.1_Missense_Mutation_p.S1075F|ABCA8_uc010wqr.1_Missense_Mutation_p.S1014F NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 1035 Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) GAAGTACAGGGAAACATCCAC 0.418 NA 11 104 0 0 0 0 LPIN2 9663 broad.mit.edu 37 18 2923796 2923796 + Silent SNP T T A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr18:2923796T>A uc002klo.2 - 16 2390 c.2151A>T c.(2149-2151)GCA>GCT p.A717A NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 717 C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GGTAGAGCTTTGCTATACCCT 0.478 NA 21 81 0 0 0 0 RFX2 5990 broad.mit.edu 37 19 6004277 6004277 + Nonsense_Mutation SNP T T A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr19:6004277T>A uc002meb.2 - 13 1704 c.1435A>T c.(1435-1437)AAG>TAG p.K479* RFX2_uc002mec.2_Nonsense_Mutation_p.K454* NM_000635 NP_000626 P48378 RFX2_HUMAN regulatory factor X2 isoform a 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|ovary(1)|skin(1) 6 TCCAAGCTCTTGGCAAAGTTA 0.547 NA 29 101 0 0 0 0 CILP2 148113 broad.mit.edu 37 19 19655208 19655208 + Silent SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr19:19655208G>A uc002nmv.3 + 8 1939 c.1854G>A c.(1852-1854)GCG>GCA p.A618A CILP2_uc002nmw.3_Silent_p.A624A NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 618 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 TCACCTCGGCGGCGTCTGCCC 0.697 NA 7 118 0 0 0 0 WNT10A 80326 broad.mit.edu 37 2 219755048 219755048 + Missense_Mutation SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr2:219755048C>T uc002vjd.1 + 3 1182 c.719C>T c.(718-720)GCG>GTG p.A240V NM_025216 NP_079492 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, 240 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity lung(1)|skin(1) 2 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACATCCACGCGAGAATGAGG 0.617 NA 6 31 0 0 0 0 UGT1A7 54577 broad.mit.edu 37 2 234590879 234590879 + Missense_Mutation SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr2:234590879C>T uc002vut.2 + 1 296 c.296C>T c.(295-297)ACG>ATG p.T99M UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.T99M NM_019077 NP_061950 Q9HAW7 UD17_HUMAN UDP glycosyltransferase 1 family, polypeptide A7 99 drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) GCTCGCTGGACGGCACCATTG 0.418 NA 6 105 0 0 0 0 BPIL3 128859 broad.mit.edu 37 20 31626754 31626754 + Missense_Mutation SNP C C T rs150580944 TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr20:31626754C>T uc010zuc.1 + 9 886 c.886C>T c.(886-888)CGC>TGC p.R296C BPIL3_uc010zud.1_Missense_Mutation_p.R235C NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 296 R -> H (de novo variant found in a patient with mental retardation). extracellular region lipid binding ovary(1)|pancreas(1) 2 GACCCTGGCTCGCTTCATTCC 0.557 NA 37 136 0 0 0 0 SOX18 54345 broad.mit.edu 37 20 62680604 62680604 + Missense_Mutation SNP A A C TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr20:62680604A>C uc002yhs.2 - 1 376 c.266T>G c.(265-267)ATG>AGG p.M89R NM_018419 NP_060889 P35713 SOX18_HUMAN SRY-box 18 89 HMG box. angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis nucleus transcription regulatory region DNA binding 0 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GAAGGCGTTCATGGGCCGCCG 0.537 NA 16 30 0 0 0 0 IL17RA 23765 broad.mit.edu 37 22 17578691 17578691 + Silent SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr22:17578691C>T uc002zly.2 + 3 301 c.168C>T c.(166-168)ACC>ACT p.T56T IL17RA_uc010gqt.2_Silent_p.T56T NM_014339 NP_055154 Q96F46 I17RA_HUMAN interleukin 17A receptor precursor 56 Extracellular (Potential). fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity skin(2) 2 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) TGCCAGGTACCTGCCTGGATG 0.567 NA 9 38 0 0 0 0 C22orf9 23313 broad.mit.edu 37 22 45601760 45601760 + Missense_Mutation SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr22:45601760G>A uc003bfx.1 - 3 316 c.250C>T c.(250-252)CGG>TGG p.R84W C22orf9_uc010gzw.1_5'UTR|C22orf9_uc003bfv.1_Missense_Mutation_p.R93W|C22orf9_uc003bfw.1_Missense_Mutation_p.R89W|C22orf9_uc010gzx.2_Missense_Mutation_p.R66W NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN hypothetical protein LOC23313 isoform b 84 protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024) GAGTCCCGCCGGTACACCTCC 0.617 NA 10 49 0 0 0 0 RBM5 10181 broad.mit.edu 37 3 50145726 50145726 + Missense_Mutation SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr3:50145726C>T uc003cyg.2 + 14 1329 c.1181C>T c.(1180-1182)TCA>TTA p.S394L RBM5_uc011bdj.1_Missense_Mutation_p.S338L|RBM5_uc011bdk.1_Missense_Mutation_p.S222L NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 394 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTGATGCATCATCTGCATCA 0.373 NA 9 49 0 0 0 0 ALPK1 80216 broad.mit.edu 37 4 113353310 113353310 + Silent SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr4:113353310C>T uc003iap.3 + 11 2886 c.2607C>T c.(2605-2607)CAC>CAT p.H869H ALPK1_uc003ian.3_Silent_p.H869H|ALPK1_uc011cfx.1_Silent_p.H791H|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.H697H NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 869 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CAAATGGGCACGGCTCTCATA 0.597 NA 13 22 0 0 0 0 CCRN4L 25819 broad.mit.edu 37 4 139966007 139966007 + Silent SNP A A C TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr4:139966007A>C uc003ihl.2 + 3 868 c.675A>C c.(673-675)CTA>CTC p.L225L NM_012118 NP_036250 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like 225 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_hematologic(180;0.162) CACCTTGTCTAGATGTAGAAC 0.463 NA 26 51 0 0 0 0 C5orf49 134121 broad.mit.edu 37 5 7832094 7832094 + Missense_Mutation SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr5:7832094G>A uc003jea.3 - 3 443 c.313C>T c.(313-315)CGC>TGC p.R105C NM_001089584 NP_001083053 A4QMS7 CE049_HUMAN hypothetical protein LOC134121 105 0 TGATTGATGCGCTTCCCATAG 0.542 NA 9 156 0 0 0 0 EDIL3 10085 broad.mit.edu 37 5 83402601 83402601 + Missense_Mutation SNP G G T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr5:83402601G>T uc003kio.1 - 6 936 c.517C>A c.(517-519)CAA>AAA p.Q173K EDIL3_uc003kip.1_Missense_Mutation_p.Q163K NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 173 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GCTGTGATTTGCTGGTTTGAT 0.393 NA 17 105 6.94e-10 7.94e-10 1 0 PCDHGB2 56103 broad.mit.edu 37 5 140741082 140741082 + Silent SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr5:140741082C>T uc003ljs.1 + 1 1380 c.1380C>T c.(1378-1380)CAC>CAT p.H460H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.H460H|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 460 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACATGGTTCACGTGGCAGAGA 0.557 NA 26 67 0 0 0 0 KIAA0141 9812 broad.mit.edu 37 5 141316762 141316762 + Splice_Site SNP G G T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr5:141316762G>T uc003lls.2 + 11 1272 c.1150_splice c.e11-1 p.D384_splice KIAA0141_uc003llt.2_Splice_Site_p.D384_splice|KIAA0141_uc003llu.1_Splice_Site NM_001142603 NP_001136075 Q14154 DELE_HUMAN hypothetical protein LOC9812 precursor apoptosis|regulation of caspase activity mitochondrion protein binding skin(1) 1 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTCTCCTTAGGACTCACAGA 0.498 NA 14 86 1.36e-06 1.52e-06 1 0 FOXP4 116113 broad.mit.edu 37 6 41566645 41566645 + Missense_Mutation SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr6:41566645G>A uc003oql.2 + 17 2472 c.2014G>A c.(2014-2016)GAG>AAG p.E672K FOXP4_uc003oqm.2_Missense_Mutation_p.E670K|FOXP4_uc003oqn.2_Missense_Mutation_p.E659K NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN forkhead box P4 isoform 1 672 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) GGACCTGGAGGAGGAGCTGCC 0.687 NA 5 14 0 0 0 0 CD109 135228 broad.mit.edu 37 6 74440235 74440235 + Missense_Mutation SNP C C T rs137899447 by1000genomes TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr6:74440235C>T uc003php.2 + 4 870 c.445C>T c.(445-447)CGC>TGC p.R149C CD109_uc010kaz.2_Missense_Mutation_p.R149C|CD109_uc003phq.2_Missense_Mutation_p.R149C|CD109_uc010kba.2_Intron NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 149 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 AGTGAAGTTTCGCATTGTTAC 0.373 NA 3 35 0 0 0 0 TIAM2 26230 broad.mit.edu 37 6 155458480 155458480 + Missense_Mutation SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr6:155458480G>A uc003qqb.2 + 7 2637 c.1364G>A c.(1363-1365)CGG>CAG p.R455Q TIAM2_uc003qqe.2_Missense_Mutation_p.R455Q|TIAM2_uc010kjj.2_5'UTR NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 455 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GATCCCCTCCGGCAGAACATT 0.512 NA 5 91 0 0 0 0 DDX56 54606 broad.mit.edu 37 7 44612540 44612540 + Missense_Mutation SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr7:44612540C>T uc003tlg.2 - 3 975 c.332G>A c.(331-333)CGG>CAG p.R111Q DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.R47Q|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.R111Q|DDX56_uc010kyh.1_Intron NM_019082 NP_061955 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 111 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding upper_aerodigestive_tract(1) 1 TCGGACATCCCGAGCACAGTA 0.527 NA 38 82 0 0 0 0 POM121L12 285877 broad.mit.edu 37 7 53103492 53103492 + Missense_Mutation SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr7:53103492C>T uc003tpz.2 + 1 144 c.128C>T c.(127-129)ACG>ATG p.T43M NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 43 0 CCCCAGACCACGCCATCTCCC 0.682 NA 4 39 0 0 0 0 IQUB 154865 broad.mit.edu 37 7 123101543 123101543 + Nonsense_Mutation SNP A A T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr7:123101543A>T uc003vkn.2 - 11 2452 c.1875T>A c.(1873-1875)TGT>TGA p.C625* IQUB_uc011kny.1_5'UTR|IQUB_uc003vko.2_Nonsense_Mutation_p.C625*|IQUB_uc010lkt.2_RNA NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 625 ovary(3)|large_intestine(1) 4 TGCAGTTACGACACCGGTATA 0.368 NA 7 40 0 0 0 0 PHKA2 5256 broad.mit.edu 37 X 18972425 18972425 + Missense_Mutation SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chrX:18972425G>A uc004cyv.3 - 2 614 c.184C>T c.(184-186)CGT>TGT p.R62C PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_Missense_Mutation_p.R4C NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 62 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) GCATTCTTACGGTAGGCCATG 0.597 NA 19 77 0 0 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157441 26157441 + Silent SNP G G A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chrX:26157441G>A uc004dbq.1 + 2 526 c.339G>A c.(337-339)TCG>TCA p.S113S NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 113 MAGE. protein binding central_nervous_system(1) 1 AAGTAGTGTCGCTGGTGCATT 0.413 NA 8 11 0 0 0 0 CXorf22 170063 broad.mit.edu 37 X 35974175 35974175 + Missense_Mutation SNP T T G TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chrX:35974175T>G uc004ddj.2 + 8 1331 c.1272T>G c.(1270-1272)TGT>TGG p.C424W CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 424 large_intestine(1)|lung(1)|ovary(1) 3 TTAAACCTTGTTTCATGGGTG 0.368 NA 10 104 0 0 0 0 HEPH 9843 broad.mit.edu 37 X 65413378 65413378 + Nonsense_Mutation SNP C C T TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chrX:65413378C>T uc011moz.1 + 8 1336 c.1276C>T c.(1276-1278)CGA>TGA p.R426* HEPH_uc004dwn.2_Nonsense_Mutation_p.R426*|HEPH_uc004dwo.2_Nonsense_Mutation_p.R156*|HEPH_uc010nkr.2_Nonsense_Mutation_p.R426*|HEPH_uc011mpa.1_Nonsense_Mutation_p.R426* NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 423 Extracellular (Potential).|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GAGCTCCAGCCGAATTGGGGG 0.393 NA 9 17 0 0 0 0 KCNN3 3782 broad.mit.edu 37 1 154842200 154842202 + In_Frame_Del DEL GCT GCT - rs56352724 TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr1:154842200_154842202delGCT uc001ffp.2 - 1 553_555 c.239_241delAGC c.(238-243)CAGCCA>CCA p.Q80del KCNN3_uc009wox.1_In_Frame_Del_p.Q80del NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 80 Poly-Gln. integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGATGCGGTGgctgctgctgctg 0.34 NA 2 4 --- --- --- --- NA NA NA NA ADAMTS7 11173 broad.mit.edu 37 15 79059020 79059021 + Frame_Shift_Ins INS - - A TCGA-CR-6488-01A-12D-2078-08 TCGA-CR-6488-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8bfa9606-b24d-4803-b551-2e86fb02ae5e 89b37386-4cde-4b98-9870-d1357d03d251 g.chr15:79059020_79059021insA uc002bej.3 - 19 3443_3444 c.3232_3233insT c.(3232-3234)TACfs p.Y1078fs ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1078 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 AGAGGGCCCGTAGGACAGATCC 0.624 NA 9 35 --- --- --- --- NA NA NA NA