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 CAMTA1 23261 broad.mit.edu 37 1 7724919 7724919 + Missense_Mutation SNP A A T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:7724919A>T uc001aoi.2 + 9 2519 c.2312A>T c.(2311-2313)AAC>ATC p.N771I NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 771 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) TCCTTCAGCAACCAGTTCTCC 0.627 NA 141 77 0 0 0 0 SERINC2 347735 broad.mit.edu 37 1 31896555 31896555 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:31896555G>A uc010ogh.1 + 2 268 c.67G>A c.(67-69)GGC>AGC p.G23S SERINC2_uc010ogg.1_Missense_Mutation_p.G20S|SERINC2_uc009vtw.1_Missense_Mutation_p.G19S|SERINC2_uc001bst.2_Missense_Mutation_p.G19S|SERINC2_uc001bsu.2_5'UTR|SERINC2_uc001bsv.2_5'UTR NM_178865 NP_849196 Q96SA4 SERC2_HUMAN tumor differentially expressed 2-like 19 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) CTGCCTCTGCGGCTCTGCCCC 0.677 NA 43 10 0 0 0 0 ZMYM1 79830 broad.mit.edu 37 1 35580081 35580081 + Missense_Mutation SNP A A G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:35580081A>G uc001bym.2 + 11 2798 c.2650A>G c.(2650-2652)ATA>GTA p.I884V ZMYM1_uc001byn.2_Missense_Mutation_p.I884V|ZMYM1_uc010ohu.1_Missense_Mutation_p.I865V|ZMYM1_uc001byo.2_Missense_Mutation_p.I524V|ZMYM1_uc009vut.2_Missense_Mutation_p.I809V NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 884 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AAATAAAACCATAGACATTTT 0.313 NA 13 7 0 0 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149858147 149858147 + Missense_Mutation SNP G G C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:149858147G>C uc001etc.2 - 1 86 c.44C>G c.(43-45)TCC>TGC p.S15C HIST2H2AC_uc001etd.2_5'Flank NM_003528 NP_003519 Q16778 H2B2E_HUMAN histone cluster 2, H2be 15 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GGCTTTCTTGGAGCCCTTTTT 0.537 NA 37 63 0 0 0 0 LINGO4 339398 broad.mit.edu 37 1 151774826 151774826 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:151774826G>A uc001ezf.1 - 2 545 c.355C>T c.(355-357)CGG>TGG p.R119W NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 119 LRR 3.|Extracellular (Potential). integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ATTCTGAGCCGATTGCCCTGC 0.577 NA 17 109 0 0 0 0 IGSF9 57549 broad.mit.edu 37 1 159904572 159904572 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:159904572G>A uc001fur.2 - 7 912 c.714C>T c.(712-714)GTC>GTT p.V238V IGSF9_uc001fuq.2_Silent_p.V238V|IGSF9_uc001fup.2_5'Flank NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 238 Ig-like 3.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGAGGCATTGACTGTGCTGT 0.562 NA 6 65 0 0 0 0 C1orf9 51430 broad.mit.edu 37 1 172555026 172555026 + Silent SNP T T G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:172555026T>G uc001giq.3 + 17 1912 c.1596T>G c.(1594-1596)ACT>ACG p.T532T C1orf9_uc010pmm.1_Silent_p.T532T|C1orf9_uc009wwd.2_Silent_p.T488T|C1orf9_uc010pmn.1_Silent_p.T495T|C1orf9_uc010pmo.1_Intron NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 532 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) AGAATGCCACTGCCACAGCTG 0.244 NA 62 143 0 0 0 0 NPHS2 7827 broad.mit.edu 37 1 179544828 179544828 + Missense_Mutation SNP G G C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:179544828G>C uc001gmq.3 - 1 257 c.172C>G c.(172-174)CGA>GGA p.R58G NPHS2_uc009wxi.2_Missense_Mutation_p.R58G NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 58 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 GCGGGCGCTCGGGGCTCCCCC 0.776 NA 5 11 0 0 0 0 CENPF 1063 broad.mit.edu 37 1 214825109 214825109 + Silent SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:214825109C>T uc001hkm.2 + 15 8214 c.8040C>T c.(8038-8040)TGC>TGT p.C2680C NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2776 Potential.|Sufficient for self-association.|Sufficient for centromere localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GCCTAGATTGCATGCACAAAG 0.388 NA 18 36 0 0 0 0 KCTD3 51133 broad.mit.edu 37 1 215775490 215775490 + Missense_Mutation SNP A A T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:215775490A>T uc001hks.2 + 12 1379 c.1085A>T c.(1084-1086)GAT>GTT p.D362V KCTD3_uc001hkt.2_Missense_Mutation_p.D362V|KCTD3_uc010pub.1_Missense_Mutation_p.D260V|KCTD3_uc009xdn.2_Missense_Mutation_p.D114V NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 362 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) CTGTATCATGATCCTTCAAAT 0.303 NA 19 45 0 0 0 0 KCTD3 51133 broad.mit.edu 37 1 215792410 215792410 + Missense_Mutation SNP A A G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:215792410A>G uc001hks.2 + 16 2039 c.1745A>G c.(1744-1746)AAG>AGG p.K582R KCTD3_uc001hkt.2_Missense_Mutation_p.K582R|KCTD3_uc010pub.1_Missense_Mutation_p.K480R|KCTD3_uc009xdn.2_Missense_Mutation_p.K306R NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 582 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) AGTGAAGATAAGGGTAGGTTC 0.393 NA 19 69 0 0 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232561495 232561495 + Missense_Mutation SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:232561495C>G uc001hvg.2 - 16 4628 c.4470G>C c.(4468-4470)GAG>GAC p.E1490D SIPA1L2_uc001hvf.2_Missense_Mutation_p.E564D NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1490 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TGCAGATGCTCTCGTCAGACA 0.552 NA 7 20 0 0 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394939 233394939 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:233394939G>A uc001hvl.2 - 5 904 c.669C>T c.(667-669)CTC>CTT p.L223L PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 223 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TACCATTGATGAGAGTTTCTG 0.498 NA 12 111 0 0 0 0 EDARADD 128178 broad.mit.edu 37 1 236572548 236572548 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr1:236572548G>A uc001hxu.1 + 2 159 c.94G>A c.(94-96)GAC>AAC p.D32N EDARADD_uc001hxv.1_Missense_Mutation_p.D22N NM_145861 NP_665860 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain isoform A 32 cell differentiation|signal transduction cytoplasm 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GGAAGACACAGACCCTAGCAC 0.308 NA 24 55 0 0 0 0 MLLT10 8028 broad.mit.edu 37 10 21823717 21823717 + Missense_Mutation SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr10:21823717C>G uc001iqs.2 + 2 492 c.144C>G c.(142-144)AGC>AGG p.S48R MLLT10_uc001iqt.2_Missense_Mutation_p.S48R|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S48R|MLLT10_uc001iqr.1_Missense_Mutation_p.S48R|MLLT10_uc001iqq.1_Missense_Mutation_p.S48R|MLLT10_uc001iqu.1_Missense_Mutation_p.S48R|MLLT10_uc009xke.1_RNA|MLLT10_uc001iqw.1_Missense_Mutation_p.S48R|MLLT10_uc001iqx.1_RNA|MLLT10_uc009xkf.1_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 48 PHD-type 1. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 ACGGCTGCAGCGTCGCGGTGC 0.408 NA T MLL|PICALM|CDK6 AL 4 37 0 0 0 0 ITGB1 3688 broad.mit.edu 37 10 33217097 33217097 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr10:33217097C>T uc001iws.3 - 5 608 c.472G>A c.(472-474)GAT>AAT p.D158N ITGB1_uc001iwp.3_Missense_Mutation_p.D158N|ITGB1_uc001iwq.3_Missense_Mutation_p.D158N|ITGB1_uc001iwr.3_Missense_Mutation_p.D158N|ITGB1_uc001iwt.3_Missense_Mutation_p.D158N|ITGB1_uc001iwu.1_Missense_Mutation_p.D158N NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 158 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) TTCTCCAAATCGTCTTTCATT 0.373 NA 52 87 0 0 0 0 NRAP 4892 broad.mit.edu 37 10 115393949 115393949 + Silent SNP G G A rs141308047 TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr10:115393949G>A uc001laj.2 - 15 1613 c.1449C>T c.(1447-1449)ATC>ATT p.I483I NRAP_uc001lak.2_Silent_p.I448I|NRAP_uc001lal.3_Silent_p.I483I NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 483 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TCAACTTGTCGATGCTCTGCC 0.458 NA 34 43 0 0 0 0 C10orf137 26098 broad.mit.edu 37 10 127438083 127438083 + Silent SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr10:127438083C>T uc001liq.1 + 22 3519 c.3226C>T c.(3226-3228)CTG>TTG p.L1076L C10orf137_uc001lio.1_Silent_p.L1042L|C10orf137_uc001lip.1_Silent_p.L780L|C10orf137_uc001lis.1_Silent_p.L402L|C10orf137_uc001lit.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 1076 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TCCCTGCGAACTGCTTAGAGT 0.443 NA 27 22 0 0 0 0 OR52N4 390072 broad.mit.edu 37 11 5776926 5776926 + Missense_Mutation SNP A A G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr11:5776926A>G uc001mbu.2 + 1 1004 c.956A>G c.(955-957)TAC>TGC p.Y319C TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 319 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) ACCAAATCCTACAGCATGTGA 0.413 NA 3 27 0 0 0 0 RAG2 5897 broad.mit.edu 37 11 36614176 36614176 + Missense_Mutation SNP T T G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr11:36614176T>G uc001mwv.3 - 2 1731 c.1543A>C c.(1543-1545)ACT>CCT p.T515P RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 515 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) TTGGCAGGAGTCAAGATTTTT 0.373 NA Familial_Hemophagocytic_Lymphohistiocytosis 17 15 0 0 0 0 OR5L2 26338 broad.mit.edu 37 11 55594934 55594934 + Missense_Mutation SNP G G T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr11:55594934G>T uc001nhy.1 + 1 240 c.240G>T c.(238-240)AAG>AAT p.K80N NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TTGTGCCAAAGATGTTGGCTA 0.463 NA HNSCC(27;0.073) 51 110 6.08e-21 6.91e-21 1 0 OR5AR1 219493 broad.mit.edu 37 11 56431630 56431630 + Missense_Mutation SNP G G T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr11:56431630G>T uc010rjm.1 + 1 469 c.469G>T c.(469-471)GTA>TTA p.V157L NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGTGAGTTTAGTAGCCCACAC 0.512 NA 65 74 5.82e-37 6.7e-37 1 0 INPPL1 3636 broad.mit.edu 37 11 71942214 71942214 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr11:71942214C>T uc001osf.2 + 12 1625 c.1478C>T c.(1477-1479)ACG>ATG p.T493M INPPL1_uc001osg.2_Missense_Mutation_p.T251M NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 493 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 AAGGAGCTTACGGATCTGGAT 0.592 NA 12 196 0 0 0 0 GRIK4 2900 broad.mit.edu 37 11 120776051 120776051 + Missense_Mutation SNP A A G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr11:120776051A>G uc001pxn.2 + 13 1612 c.1325A>G c.(1324-1326)GAC>GGC p.D442G GRIK4_uc009zav.1_Missense_Mutation_p.D442G|GRIK4_uc009zaw.1_Missense_Mutation_p.D442G|GRIK4_uc009zax.1_Missense_Mutation_p.D442G NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 442 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GAAGGCAATGACCGCTACGAG 0.537 NA 62 93 0 0 0 0 TECTA 7007 broad.mit.edu 37 11 121008284 121008284 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr11:121008284G>A uc010rzo.1 + 10 3096 c.3096G>A c.(3094-3096)ACG>ACA p.T1032T NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1032 TIL 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGTGTGTCACGCGGAGTGAGT 0.577 NA 30 24 0 0 0 0 OR8B8 26493 broad.mit.edu 37 11 124310617 124310617 + Missense_Mutation SNP C C T rs144609364 byFrequency TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr11:124310617C>T uc010sal.1 - 1 365 c.365G>A c.(364-366)CGC>CAC p.R122H NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GGCCACATAGCGGTCATACGC 0.488 NA 6 24 0 0 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709340 128709340 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr11:128709340G>A uc001qeo.1 - 2 907 c.856C>T c.(856-858)CTT>TTT p.L286F KCNJ1_uc001qep.1_Missense_Mutation_p.L267F|KCNJ1_uc001qeq.1_Missense_Mutation_p.L267F|KCNJ1_uc001qer.1_Missense_Mutation_p.L267F|KCNJ1_uc001qes.1_Missense_Mutation_p.L267F NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 286 Cytoplasmic (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) TGCTGGAGAAGGGTCTCCGCT 0.478 NA 14 40 0 0 0 0 AKAP3 10566 broad.mit.edu 37 12 4737262 4737262 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:4737262C>T uc001qnb.3 - 4 1035 c.806G>A c.(805-807)CGA>CAA p.R269Q NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 269 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 TTCCTGCCCTCGAAACCTCTT 0.443 NA 50 43 0 0 0 0 GALNT8 26290 broad.mit.edu 37 12 4835920 4835920 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:4835920G>A uc001qne.1 + 2 526 c.434G>A c.(433-435)CGG>CAG p.R145Q NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 145 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 GACCTCTTCCGGAAGTTTGGT 0.562 NA 16 50 0 0 0 0 MANSC1 54682 broad.mit.edu 37 12 12483418 12483418 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:12483418G>A uc001rai.1 - 4 1097 c.839C>T c.(838-840)ACG>ATG p.T280M MANSC1_uc010shm.1_Missense_Mutation_p.T214M|MANSC1_uc001raj.1_Missense_Mutation_p.T246M|MANSC1_uc009zht.1_Missense_Mutation_p.T199M NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 280 Thr-rich.|Extracellular (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) AATGAGGGTCGTGGGAGGCTG 0.547 NA 31 31 0 0 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028240 21028240 + Missense_Mutation SNP C C A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:21028240C>A uc001rek.2 + 8 925 c.799C>A c.(799-801)CTA>ATA p.L267I SLCO1B3_uc001rel.2_Missense_Mutation_p.L267I|SLCO1B3_uc010sil.1_Missense_Mutation_p.L267I|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.L92I NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 267 Helical; Name=6; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TGTGTCTGGACTATTTTCCAT 0.378 NA 24 191 2.4e-15 2.68e-15 1 0 CAPRIN2 65981 broad.mit.edu 37 12 30881780 30881780 + Silent SNP T T C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:30881780T>C uc001rji.1 - 8 2335 c.1584A>G c.(1582-1584)TCA>TCG p.S528S CAPRIN2_uc001rjf.1_Silent_p.S325S|CAPRIN2_uc001rjg.1_Silent_p.S195S|CAPRIN2_uc001rjh.1_Silent_p.S528S|CAPRIN2_uc001rjj.1_Silent_p.S195S|CAPRIN2_uc001rjk.3_Silent_p.S528S|CAPRIN2_uc001rjl.3_Silent_p.S528S|CAPRIN2_uc001rjm.1_Silent_p.S195S|CAPRIN2_uc001rjn.1_Silent_p.S195S NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 528 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) GAGTGGTCCATGACTTGGTGG 0.453 NA 84 236 0 0 0 0 LRRK2 120892 broad.mit.edu 37 12 40681307 40681307 + Silent SNP T T C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:40681307T>C uc001rmg.3 + 20 2776 c.2655T>C c.(2653-2655)AGT>AGC p.S885S LRRK2_uc001rmh.1_Silent_p.S507S NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 885 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTATGGACAGTGTGTTTGCTC 0.373 NA 6 36 0 0 0 0 KRT81 3887 broad.mit.edu 37 12 52685196 52685196 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:52685196G>A uc001sab.2 - 1 104 c.54C>T c.(52-54)TGC>TGT p.C18C KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron NM_002281 NP_002272 Q14533 KRT81_HUMAN keratin, hair, basic, 1 18 Head. keratin filament protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCGCGGCCCGCAGGCCGAGA 0.692 NA 10 9 0 0 0 0 PCBP2 5094 broad.mit.edu 37 12 53849719 53849719 + Silent SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:53849719C>T uc001sdl.3 + 5 527 c.177C>T c.(175-177)ATC>ATT p.I59I PCBP2_uc001sdc.3_Silent_p.I59I|PCBP2_uc001sdb.3_Silent_p.I59I|PCBP2_uc001sde.3_Silent_p.I59I|PCBP2_uc001sdi.3_Silent_p.I59I|PCBP2_uc001sdd.3_Silent_p.I59I|PCBP2_uc001sdf.3_Silent_p.I59I|PCBP2_uc009zna.2_Intron|PCBP2_uc010soh.1_Silent_p.I59I|PCBP2_uc009zmz.1_Intron NM_001128911 NP_001122383 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 isoform d 59 KH 1. innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding 0 AGAGAATTATCACTTTGGCTG 0.403 NA 47 137 0 0 0 0 ITGA5 3678 broad.mit.edu 37 12 54797970 54797970 + Silent SNP T T A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:54797970T>A uc001sga.2 - 15 1592 c.1524A>T c.(1522-1524)CCA>CCT p.P508P NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 508 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 TCCGCTCCTCTGGGTTGAACA 0.612 NA OREG0021554 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 48 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57588203 57588203 + Missense_Mutation SNP G G T rs146710883 by1000genomes TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:57588203G>T uc001snd.2 + 49 8451 c.7985G>T c.(7984-7986)CGG>CTG p.R2662L MIR1228_hsa-mir-1228|MI0006318_5'Flank NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 2662 LDL-receptor class A 14.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCTGCGAGCGGACCTCACTC 0.662 NA 61 71 1.54e-24 1.75e-24 1 0 PTPRB 5787 broad.mit.edu 37 12 70954686 70954686 + Silent SNP C C A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:70954686C>A uc001swb.3 - 15 3573 c.3543G>T c.(3541-3543)GGG>GGT p.G1181G PTPRB_uc010sto.1_Silent_p.G1091G|PTPRB_uc010stp.1_Silent_p.G1091G|PTPRB_uc001swc.3_Silent_p.G1399G|PTPRB_uc001swa.3_Silent_p.G1311G|PTPRB_uc001swd.3_Silent_p.G1398G|PTPRB_uc009zrr.1_Silent_p.G1278G NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1181 Fibronectin type-III 14.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCCGATTGGACCCCCTGAGAT 0.458 NA 23 63 2.45e-14 2.73e-14 1 0 TRHDE 29953 broad.mit.edu 37 12 72866930 72866930 + Silent SNP T T C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:72866930T>C uc001sxa.2 + 5 1449 c.1419T>C c.(1417-1419)GGT>GGC p.G473G NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 473 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 AATTTGTTGGTACAGACTACC 0.423 NA 37 36 0 0 0 0 PAH 5053 broad.mit.edu 37 12 103248914 103248914 + Missense_Mutation SNP T T A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:103248914T>A uc001tjq.1 - 7 1178 c.706A>T c.(706-708)ACT>TCT p.T236S PAH_uc010swc.1_Missense_Mutation_p.S236C NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 236 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) GTGGACTTACTCTGCAGGAAC 0.468 NA 15 22 0 0 0 0 TBX3 6926 broad.mit.edu 37 12 115109730 115109730 + Silent SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:115109730C>T uc001tvt.1 - 8 3112 c.2148G>A c.(2146-2148)GCG>GCA p.A716A TBX3_uc001tvu.1_Silent_p.A696A NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 716 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CGCTGGTGGCCGCCTCTTTCT 0.652 NA 4 5 0 0 0 0 RFC5 5985 broad.mit.edu 37 12 118456893 118456893 + Missense_Mutation SNP C C A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:118456893C>A uc001twq.2 + 2 207 c.82C>A c.(82-84)CCA>ACA p.P28T RFC5_uc010syx.1_Missense_Mutation_p.P7T|RFC5_uc010syy.1_Missense_Mutation_p.P7T|RFC5_uc010syz.1_5'UTR|RFC5_uc009zwr.2_Missense_Mutation_p.P28T NM_007370 NP_031396 P40937 RFC5_HUMAN replication factor C 5 isoform 1 28 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAAATACCGGCCACAGACCCT 0.338 NA 25 38 1.18e-14 1.32e-14 1 0 SACS 26278 broad.mit.edu 37 13 23905170 23905170 + Missense_Mutation SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr13:23905170C>G uc001uon.2 - 10 13434 c.12845G>C c.(12844-12846)GGT>GCT p.G4282A SACS_uc001uoo.2_Missense_Mutation_p.G4135A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4282 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GCTCTCTCTACCAGAGAAAAG 0.478 NA 44 37 0 0 0 0 SACS 26278 broad.mit.edu 37 13 23915744 23915744 + Silent SNP G G C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr13:23915744G>C uc001uon.2 - 10 2860 c.2271C>G c.(2269-2271)GGC>GGG p.G757G SACS_uc001uoo.2_Silent_p.G610G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Silent_p.G610G NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 757 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCAATTCTCTGCCAGGCCAGA 0.363 NA 14 73 0 0 0 0 KLF12 11278 broad.mit.edu 37 13 74420023 74420023 + Missense_Mutation SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr13:74420023C>G uc001vjf.2 - 4 833 c.611G>C c.(610-612)GGA>GCA p.G204A KLF12_uc010aeq.2_Missense_Mutation_p.G204A|KLF12_uc001vjg.3_Missense_Mutation_p.G204A NM_007249 NP_009180 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 204 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) GTTCACATTTCCAGGTGACCT 0.468 NA 26 34 0 0 0 0 LMO7 4008 broad.mit.edu 37 13 76395471 76395471 + Missense_Mutation SNP A A G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr13:76395471A>G uc001vjv.2 + 11 2427 c.1667A>G c.(1666-1668)GAA>GGA p.E556G LMO7_uc010thv.1_Missense_Mutation_p.E507G|LMO7_uc001vjt.1_Missense_Mutation_p.E455G|LMO7_uc010thw.1_Missense_Mutation_p.E406G|LMO7_uc001vjw.1_Missense_Mutation_p.E462G NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 841 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) TATCCTTCAGAAATTCCCAAA 0.448 NA 12 37 0 0 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485361 97485361 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr13:97485361G>A uc001vmw.2 + 2 1349 c.1325G>A c.(1324-1326)CGA>CAA p.R442Q NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 442 Lumenal (Potential). integral to membrane sulfotransferase activity ovary(1)|skin(1) 2 all_neural(89;0.0878)|Medulloblastoma(90;0.163) AGGCTGCAGCGAGAGCACAGG 0.612 NA 18 32 0 0 0 0 OR4K15 81127 broad.mit.edu 37 14 20444015 20444015 + Missense_Mutation SNP G G A rs139377821 by1000genomes TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr14:20444015G>A uc010tkx.1 + 1 338 c.338G>A c.(337-339)CGC>CAC p.R113H NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 113 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGTTGAGCGCAAGACTATT 0.453 NA 36 41 0 0 0 0 PCK2 5106 broad.mit.edu 37 14 24572812 24572812 + Missense_Mutation SNP G G A rs35618680 byFrequency TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr14:24572812G>A uc001wlt.2 + 10 1694 c.1562G>A c.(1561-1563)CGC>CAC p.R521H NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Intron|PCK2_uc010tnw.1_Missense_Mutation_p.R387H|PCK2_uc010tnx.1_Missense_Mutation_p.R387H|PCK2_uc001wlu.3_Missense_Mutation_p.R355H NM_004563 NP_004554 Q16822 PCKGM_HUMAN mitochondrial phosphoenolpyruvate carboxykinase 521 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity p.R521H(1) ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0184) ATGGAAGGGCGCAAGGGGGCC 0.607 NA 5 45 0 0 0 0 SPTB 6710 broad.mit.edu 37 14 65260353 65260353 + Silent SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr14:65260353C>T uc001xht.2 - 13 2082 c.2028G>A c.(2026-2028)CAG>CAA p.Q676Q SPTB_uc001xhr.2_Silent_p.Q676Q|SPTB_uc001xhs.2_Silent_p.Q676Q|SPTB_uc001xhu.2_Silent_p.Q676Q NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 676 Spectrin 4. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGTGCTTGCGCTGTAAGATGA 0.547 NA 19 20 0 0 0 0 COX16 51241 broad.mit.edu 37 14 70795912 70795912 + Missense_Mutation SNP T T C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr14:70795912T>C uc001xmb.2 - 3 323 c.183A>G c.(181-183)ATA>ATG p.I61M NM_016468 NP_057552 Q9P0S2 COX16_HUMAN COX16 cytochrome c oxidase assembly homolog 61 integral to membrane|mitochondrial membrane 0 ACTCTAAAGATATTTTATTCT 0.303 NA 8 17 0 0 0 0 BATF 10538 broad.mit.edu 37 14 76012935 76012935 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr14:76012935C>T uc001xrr.2 + 3 541 c.299C>T c.(298-300)ACG>ATG p.T100M NM_006399 NP_006390 Q16520 BATF_HUMAN basic leucine zipper transcription factor, 100 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.028) GCCGCCAGCACGCCCTCGCCC 0.642 NA 8 9 0 0 0 0 TC2N 123036 broad.mit.edu 37 14 92249476 92249476 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr14:92249476C>T uc001xzu.3 - 12 1632 c.1441G>A c.(1441-1443)GTT>ATT p.V481I TC2N_uc001xzt.3_Missense_Mutation_p.V481I|TC2N_uc010auc.2_Missense_Mutation_p.V417I|TC2N_uc001xzv.3_Missense_Mutation_p.V481I NM_001128595 NP_001122067 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 481 nucleus upper_aerodigestive_tract(1) 1 COAD - Colon adenocarcinoma(157;0.218) CACCTGATAACAACCTTTTCT 0.328 NA 32 113 0 0 0 0 KIAA1409 57578 broad.mit.edu 37 14 94088956 94088956 + Missense_Mutation SNP G G C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr14:94088956G>C uc001ybv.1 + 28 4995 c.4912G>C c.(4912-4914)GAT>CAT p.D1638H KIAA1409_uc001ybs.1_Missense_Mutation_p.D1616H NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1793 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AGTTCCCGAAGATGCAGAGAA 0.542 NA 25 41 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28419625 28419625 + Missense_Mutation SNP T T G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr15:28419625T>G uc001zbj.2 - 65 10079 c.9973A>C c.(9973-9975)ACA>CCA p.T3325P NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3325 RCC1 12. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCCACAGTTGTCCACGCCACA 0.557 NA 14 29 0 0 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42439887 42439887 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr15:42439887C>T uc001zoz.2 - 12 1196 c.1133G>A c.(1132-1134)GGG>GAG p.G378E PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.G10E|PLA2G4F_uc010bcr.2_Missense_Mutation_p.G129E|PLA2G4F_uc001zpa.2_Missense_Mutation_p.G129E|PLA2G4F_uc010bcs.2_Missense_Mutation_p.G165E NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 378 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CTCCTGCAACCCTGCCAGGCT 0.577 NA 27 76 0 0 0 0 ATP8B4 79895 broad.mit.edu 37 15 50211036 50211036 + Nonsense_Mutation SNP C C A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr15:50211036C>A uc001zxu.2 - 19 2177 c.2035G>T c.(2035-2037)GAA>TAA p.E679* ATP8B4_uc010ber.2_Nonsense_Mutation_p.E552*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.E489*|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 679 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTCAAGTTACCTTGTTTGTCT 0.318 NA 15 56 1.15e-07 1.25e-07 1 0 IL16 3603 broad.mit.edu 37 15 81591957 81591957 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr15:81591957G>A uc002bgh.3 + 14 2666 c.2290G>A c.(2290-2292)GCC>ACC p.A764T IL16_uc010blq.1_Missense_Mutation_p.A718T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.A806T|IL16_uc002bgg.2_Missense_Mutation_p.A764T|IL16_uc002bgi.1_Missense_Mutation_p.A154T|IL16_uc002bgj.2_Missense_Mutation_p.A258T|IL16_uc002bgk.2_Missense_Mutation_p.A63T|IL16_uc002bgl.1_Missense_Mutation_p.A63T|IL16_uc010unq.1_Missense_Mutation_p.A63T NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 764 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GCTGGACACCGCCAATGGCAC 0.557 NA 30 22 0 0 0 0 TMEM8A 58986 broad.mit.edu 37 16 424221 424221 + Silent SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr16:424221C>T uc002cgu.3 - 10 1884 c.1755G>A c.(1753-1755)ACG>ACA p.T585T TMEM8A_uc002cgv.3_Silent_p.T392T NM_021259 NP_067082 Q9HCN3 TMM8A_HUMAN transmembrane protein 8 (five membrane-spanning 585 Helical; (Potential). cell adhesion integral to plasma membrane central_nervous_system(2)|pancreas(1) 3 GCCAGCCTACCGTGGAGAAGA 0.662 NA OREG0003702 type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 34 0 0 0 0 CARHSP1 23589 broad.mit.edu 37 16 8952230 8952230 + Silent SNP G G A rs141833541 byFrequency TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr16:8952230G>A uc002czh.1 - 3 608 c.258C>T c.(256-258)CCC>CCT p.P86P PMM2_uc002czg.1_Intron|CARHSP1_uc002czi.1_Silent_p.P86P NM_001042476 NP_001035941 Q9Y2V2 CHSP1_HUMAN calcium-regulated heat-stable protein 1 86 CSD. intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|P granule DNA binding|mRNA 3'-UTR binding|phosphatase binding 0 GGAAGATGTCGGGGCCGCCAT 0.632 NA 10 21 0 0 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570634 20570634 + Missense_Mutation SNP G G A rs141121285 TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr16:20570634G>A uc002dhj.3 - 4 523 c.313C>T c.(313-315)CGT>TGT p.R105C ACSM2B_uc002dhk.3_Missense_Mutation_p.R105C|ACSM2B_uc010bwf.1_Missense_Mutation_p.R105C NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 105 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CGATCCCCACGCTGCAGGCCA 0.567 NA 16 18 0 0 0 0 IL21R 50615 broad.mit.edu 37 16 27460487 27460487 + Missense_Mutation SNP C C A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr16:27460487C>A uc002doq.1 + 9 1733 c.1500C>A c.(1498-1500)AGC>AGA p.S500R IL21R_uc002dor.1_Missense_Mutation_p.S500R|IL21R_uc002dos.1_Missense_Mutation_p.S500R|uc002dot.2_RNA NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 500 Cytoplasmic (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 CTGACTGCAGCAGCCCTGTGG 0.657 NA T BCL6 NHL 16 59 4.75e-09 5.23e-09 1 0 CNOT1 23019 broad.mit.edu 37 16 58571071 58571071 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr16:58571071C>T uc002env.2 - 39 5761 c.5468G>A c.(5467-5469)CGT>CAT p.R1823H CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.R1818H|CNOT1_uc010vik.1_Missense_Mutation_p.R780H NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1823 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TCCATGAGCACGATCAATCAT 0.468 NA 9 95 0 0 0 0 LRRC36 55282 broad.mit.edu 37 16 67409205 67409205 + Missense_Mutation SNP C C A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr16:67409205C>A uc002esv.2 + 10 1569 c.1550C>A c.(1549-1551)CCC>CAC p.P517H LRRC36_uc002esw.2_Intron|LRRC36_uc002esx.2_Missense_Mutation_p.P396H|LRRC36_uc010vjk.1_Intron|LRRC36_uc010vjl.1_Missense_Mutation_p.P38T|LRRC36_uc002esy.2_Missense_Mutation_p.P27H NM_018296 NP_060766 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 isoform 1 517 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CACAGTCCCCCCATCTCTGCC 0.512 NA 111 194 9.16e-64 1.06e-63 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77327019 77327019 + Missense_Mutation SNP C C A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr16:77327019C>A uc002ffc.3 - 20 3562 c.3143G>T c.(3142-3144)TGC>TTC p.C1048F ADAMTS18_uc010chc.1_Missense_Mutation_p.C636F NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1048 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 GTTCTTGGGGCATCGTCCAAG 0.507 NA 30 78 5.1e-08 5.57e-08 1 0 TP53 7157 broad.mit.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G A rs28934874 TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr17:7578479G>A uc002gim.2 - 5 645 c.451C>T c.(451-453)CCC>TCC p.P151S TP53_uc002gig.1_Missense_Mutation_p.P151S|TP53_uc002gih.2_Missense_Mutation_p.P151S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19S|TP53_uc010cng.1_Missense_Mutation_p.P19S|TP53_uc002gii.1_Missense_Mutation_p.P19S|TP53_uc010cnh.1_Missense_Mutation_p.P151S|TP53_uc010cni.1_Missense_Mutation_p.P151S|TP53_uc002gij.2_Missense_Mutation_p.P151S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58S|TP53_uc002gio.2_Missense_Mutation_p.P19S|TP53_uc010vug.1_Missense_Mutation_p.P112S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 151 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(10)|p.P152fs*18(9)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P58A(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P19A(1)|p.P152fs*14(1)|p.T150_P151delTP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGGGCGGGGGTGTGGAATCA 0.612 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 52 21 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10368799 10368799 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr17:10368799G>A uc002gmn.2 - 5 576 c.465C>T c.(463-465)ATC>ATT p.I155I uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 155 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 AGATGGAGAAGATATGGGGTG 0.478 NA 54 107 0 0 0 0 ADAP2 55803 broad.mit.edu 37 17 29253865 29253865 + Silent SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr17:29253865C>T uc002hfx.2 + 3 525 c.246C>T c.(244-246)AAC>AAT p.N82N ADAP2_uc010csk.2_Silent_p.N88N|ADAP2_uc002hfy.2_Silent_p.N82N|ADAP2_uc010csl.2_RNA NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN centaurin-alpha 2 protein 82 Arf-GAP. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) ovary(1) 1 ACAATGGAAACCTCCGTGTGA 0.478 NA 21 41 0 0 0 0 SAMD14 201191 broad.mit.edu 37 17 48192980 48192980 + Missense_Mutation SNP G G T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr17:48192980G>T uc002iqg.2 - 7 1069 c.770C>A c.(769-771)CCC>CAC p.P257H SAMD14_uc002iqd.2_Missense_Mutation_p.P40H|SAMD14_uc002iqe.2_Missense_Mutation_p.P40H|SAMD14_uc002iqf.2_Missense_Mutation_p.P257H NM_174920 NP_777580 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 257 0 GGAGCAGGTGGGGGAGGTGGT 0.622 NA 52 118 9.55e-19 1.08e-18 1 0 RNF213 57674 broad.mit.edu 37 17 78355470 78355470 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr17:78355470G>A uc002jyh.1 + 32 8363 c.8140G>A c.(8140-8142)GTG>ATG p.V2714M uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.V1096M NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GACCATCGGCGTGGTCCACCT 0.597 NA 7 32 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 7050890 7050890 + Nonsense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr18:7050890G>A uc002knm.2 - 4 485 c.391C>T c.(391-393)CGA>TGA p.R131* LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 131 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTCCAGGTCGAGGGGCATTG 0.423 NA 21 45 0 0 0 0 SETBP1 26040 broad.mit.edu 37 18 42532422 42532422 + Missense_Mutation SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr18:42532422C>G uc010dni.2 + 4 3413 c.3117C>G c.(3115-3117)AGC>AGG p.S1039R NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1039 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAGGGTTCAGCTACCCTATTC 0.448 NA Schinzel-Giedion_syndrome 12 34 0 0 0 0 CDH7 1005 broad.mit.edu 37 18 63481745 63481745 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr18:63481745C>T uc002ljz.2 + 4 855 c.530C>T c.(529-531)GCG>GTG p.A177V CDH7_uc002lka.2_Missense_Mutation_p.A177V|CDH7_uc002lkb.2_Missense_Mutation_p.A177V NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 177 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) CAAGTGACAGCGACGGATGCT 0.438 NA 28 89 0 0 0 0 SLC39A3 29985 broad.mit.edu 37 19 2733161 2733161 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr19:2733161G>A uc002lwg.2 - 3 787 c.533C>T c.(532-534)TCG>TTG p.S178L SLC39A3_uc010xgy.1_Missense_Mutation_p.S178L NM_144564 NP_653165 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), 178 Helical; (Potential). integral to membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGAGTGGGCCGACAGCGCGAA 0.721 NA 18 47 0 0 0 0 MAP2K2 5605 broad.mit.edu 37 19 4117549 4117549 + Missense_Mutation SNP A A C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr19:4117549A>C uc002lzk.2 - 2 425 c.171T>G c.(169-171)TTT>TTG p.F57L NM_030662 NP_109587 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 57 F -> C (in CFC syndrome). activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TCTGGGTGAGAAAGGCTTCCA 0.597 NA Cardiofaciocutaneous_syndrome 28 46 0 0 0 0 DENND1C 79958 broad.mit.edu 37 19 6468392 6468392 + Missense_Mutation SNP G G T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr19:6468392G>T uc002mfe.2 - 22 1736 c.1644C>A c.(1642-1644)AGC>AGA p.S548R DENND1C_uc002mfb.2_Missense_Mutation_p.S98R|DENND1C_uc002mfc.2_Missense_Mutation_p.S98R|DENND1C_uc002mfd.2_Missense_Mutation_p.S98R|DENND1C_uc010xje.1_Missense_Mutation_p.S504R NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 548 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 CCAAGAAGCTGCTGTCCAGAG 0.587 NA 11 15 2.27e-07 2.47e-07 1 0 MUC16 94025 broad.mit.edu 37 19 9011414 9011414 + Missense_Mutation SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr19:9011414C>G uc002mkp.2 - 36 39023 c.38819G>C c.(38818-38820)AGA>ACA p.R12940T MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12942 SEA 6.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGCTGCTCTCTGTTGAGTCC 0.577 NA 10 204 0 0 0 0 CPAMD8 27151 broad.mit.edu 37 19 17088276 17088276 + Missense_Mutation SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr19:17088276C>G uc002nfb.2 - 15 1833 c.1801G>C c.(1801-1803)GTC>CTC p.V601L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 554 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CCAAGGGGGACCATGCTGGGG 0.587 NA 13 34 0 0 0 0 ZNF569 148266 broad.mit.edu 37 19 37904369 37904369 + Silent SNP A A T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr19:37904369A>T uc002ogi.2 - 6 1749 c.1191T>A c.(1189-1191)CTT>CTA p.L397L ZNF569_uc002ogh.2_Silent_p.L238L|ZNF569_uc002ogj.2_Silent_p.L421L NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 397 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATGTACAGTAAGGGCTGAGC 0.383 NA 9 77 0 0 0 0 ZNF569 148266 broad.mit.edu 37 19 37917207 37917207 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr19:37917207C>T uc002ogi.2 - 4 647 c.89G>A c.(88-90)AGA>AAA p.R30K ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Missense_Mutation_p.R54K NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 30 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTACAGTTTTCTCTGAGCAGG 0.388 NA 27 36 0 0 0 0 CYP2B6 1555 broad.mit.edu 37 19 41510326 41510326 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr19:41510326G>A uc002opr.1 + 3 466 c.459G>A c.(457-459)CTG>CTA p.L153L CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.L113L NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 153 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CTCAGTGTCTGATAGAGGAGC 0.517 NA 13 13 0 0 0 0 PSG7 5676 broad.mit.edu 37 19 43433689 43433689 + Missense_Mutation SNP A A T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr19:43433689A>T uc002ovl.3 - 4 716 c.614T>A c.(613-615)TTT>TAT p.F205Y PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_Missense_Mutation_p.F24Y|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.F83Y NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 205 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) TGTGACACCAAATAGGTAGAG 0.522 NA 151 242 0 0 0 0 ZNF549 256051 broad.mit.edu 37 19 58049113 58049114 + Nonsense_Mutation DNP TA TA AG TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr19:58049113_58049114TA>AG uc002qpb.1 + 4 990_991 c.741_742TA>AG c.(739-744)TATAAG>TAAGAG p.247_248YK>*E ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Nonsense_Mutation_p.234_235YK>*E NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 247_248 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAAAGCTTATAAGCGTAGGGA 0.386 NA 26 58 0 0 0 0 NLRC4 58484 broad.mit.edu 37 2 32476104 32476104 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:32476104C>T uc002roi.2 - 4 1075 c.829G>A c.(829-831)GTC>ATC p.V277I NLRC4_uc002roj.1_Missense_Mutation_p.V277I|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 277 LRR 2.|NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GTAGTGGTGACGATGACCATG 0.522 NA 54 88 0 0 0 0 LTBP1 4052 broad.mit.edu 37 2 33500893 33500893 + Missense_Mutation SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:33500893C>G uc002ros.2 + 18 2898 c.2898C>G c.(2896-2898)GAC>GAG p.D966E LTBP1_uc002rot.2_Missense_Mutation_p.D640E|LTBP1_uc002rou.2_Missense_Mutation_p.D639E|LTBP1_uc002rov.2_Missense_Mutation_p.D586E|LTBP1_uc010ymz.1_Missense_Mutation_p.D639E|LTBP1_uc010yna.1_Missense_Mutation_p.D586E NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 965 EGF-like 6; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGAGGCCGGACGTCTGTGGGG 0.532 NA 32 134 0 0 0 0 MTA3 57504 broad.mit.edu 37 2 42836652 42836652 + Missense_Mutation SNP A A G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:42836652A>G uc002rso.1 + 5 747 c.77A>G c.(76-78)CAG>CGG p.Q26R MTA3_uc002rsp.1_Missense_Mutation_p.Q26R|MTA3_uc002rsq.2_Missense_Mutation_p.Q82R|MTA3_uc002rsr.2_Missense_Mutation_p.Q82R NM_020744 NP_065795 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 82 BAH. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 ACCGATAAGCAGAAACATCAG 0.358 NA 8 95 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 50318532 50318532 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:50318532C>T uc010fbp.2 - 3 1349 c.542G>A c.(541-543)CGT>CAT p.R181H NRXN1_uc002rxb.3_Missense_Mutation_p.R888H|NRXN1_uc010fbq.2_Missense_Mutation_p.R1256H|NRXN1_uc002rxe.3_Missense_Mutation_p.R1216H NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 181 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCTCGTGAAACGAACTACATG 0.473 NA 69 193 0 0 0 0 XPO1 7514 broad.mit.edu 37 2 61719576 61719576 + Missense_Mutation SNP T T G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:61719576T>G uc002sbj.2 - 15 2335 c.1607A>C c.(1606-1608)AAT>ACT p.N536T XPO1_uc010fcl.2_Missense_Mutation_p.N532T|XPO1_uc010ypn.1_Missense_Mutation_p.N532T|XPO1_uc002sbk.2_Missense_Mutation_p.N97T|XPO1_uc002sbh.2_Missense_Mutation_p.N183T NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 536 Necessary for HTLV-1 Rex-mediated mRNA export.|HEAT 4. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) AATAGCTTTATTATCTTTGCC 0.299 NA 7 40 0 0 0 0 SNRNP200 23020 broad.mit.edu 37 2 96970578 96970578 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:96970578C>T uc002svu.2 - 2 160 c.74G>A c.(73-75)CGT>CAT p.R25H NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 25 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 AATGAGAGAACGGTCAGCTTG 0.522 NA 11 31 0 0 0 0 C2orf40 84417 broad.mit.edu 37 2 106690370 106690370 + Silent SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:106690370C>T uc010fjf.2 + 3 264 c.156C>T c.(154-156)GCC>GCT p.A52A NM_032411 NP_115787 Q9H1Z8 AUGN_HUMAN esophageal cancer related gene 4 protein 52 extracellular region|transport vesicle 0 CTAAAGTGGCCGTTGATGAGA 0.527 NA 66 116 0 0 0 0 UBXN4 23190 broad.mit.edu 37 2 136528287 136528287 + Missense_Mutation SNP A A G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:136528287A>G uc002tur.2 + 8 1115 c.804A>G c.(802-804)ATA>ATG p.I268M UBXN4_uc002tus.2_Missense_Mutation_p.I34M NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 268 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 GAGAACGTATAAAACAGCAGA 0.373 NA 13 14 0 0 0 0 C2orf77 129881 broad.mit.edu 37 2 170510628 170510628 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:170510628G>A uc002ufe.2 - 6 1010 c.916C>T c.(916-918)CGT>TGT p.R306C NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN hypothetical protein LOC129881 306 Potential. 0 TGTATAAGACGCTTTTTTGCT 0.323 NA 6 12 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179616133 179616133 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:179616133G>A uc002unb.2 - 46 11218 c.10994C>T c.(10993-10995)GCC>GTC p.A3665V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TGTTTTCTTGGCAGAACTCAT 0.363 NA 176 45 0 0 0 0 INO80D 54891 broad.mit.edu 37 2 206869901 206869901 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:206869901G>A uc002vaz.3 - 11 2680 c.2275C>T c.(2275-2277)CCA>TCA p.P759S NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 759 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 ACGTTGGCTGGGGCAGAGAAC 0.557 NA 25 39 0 0 0 0 SLC4A3 6508 broad.mit.edu 37 2 220501041 220501041 + Missense_Mutation SNP C C A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr2:220501041C>A uc002vmp.3 + 15 2478 c.2209C>A c.(2209-2211)CTG>ATG p.L737M SLC4A3_uc002vmo.3_Missense_Mutation_p.L764M|SLC4A3_uc010fwm.2_Missense_Mutation_p.L287M|SLC4A3_uc010fwn.1_Missense_Mutation_p.L246M NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 737 Helical; (Potential).|Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACCGAGGGGCTGATGGGCGT 0.617 NA 46 31 1.36e-18 1.54e-18 1 0 NKX2-2 4821 broad.mit.edu 37 20 21492699 21492699 + Missense_Mutation SNP G G T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr20:21492699G>T uc002wsi.2 - 2 1041 c.684C>A c.(682-684)TTC>TTA p.F228L NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 228 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 TGCCCGCCTGGAAGGTGGCGG 0.682 NA 27 42 1.16e-09 1.28e-09 1 0 NDRG3 57446 broad.mit.edu 37 20 35317165 35317165 + Missense_Mutation SNP T T C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr20:35317165T>C uc002xfw.2 - 4 198 c.116A>G c.(115-117)CAT>CGT p.H39R NDRG3_uc002xfx.2_Missense_Mutation_p.H27R|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN N-myc downstream regulated gene 3 isoform a 39 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm ovary(1) 1 Myeloproliferative disorder(115;0.00878) GACCACACCATGAGTTGTTTC 0.378 NA 8 118 0 0 0 0 SRC 6714 broad.mit.edu 37 20 36024685 36024685 + Missense_Mutation SNP G G T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr20:36024685G>T uc002xgx.2 + 8 1123 c.674G>T c.(673-675)AGC>ATC p.S225I SRC_uc002xgy.2_Missense_Mutation_p.S225I NM_005417 NP_005408 P12931 SRC_HUMAN proto-oncogene tyrosine-protein kinase SRC 225 SH2. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1) 13 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) CAGTTCAACAGCCTGCAGCAG 0.637 NA 9 68 1.77e-08 1.93e-08 1 0 TP53RK 112858 broad.mit.edu 37 20 45315483 45315483 + Missense_Mutation SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr20:45315483C>G uc002xsk.2 - 2 894 c.671G>C c.(670-672)AGC>ACC p.S224T SLC13A3_uc002xsg.1_5'Flank|SLC13A3_uc010gho.1_5'Flank|TP53RK_uc002xsj.2_3'UTR NM_033550 NP_291028 Q96S44 PRPK_HUMAN p53-related protein kinase 224 Protein kinase. lipopolysaccharide biosynthetic process membrane|nucleus ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Myeloproliferative disorder(115;0.0122) GGTGGAGTAGCTCTTCAGAAA 0.488 NA 44 80 0 0 0 0 PREX1 57580 broad.mit.edu 37 20 47266017 47266017 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr20:47266017G>A uc002xtw.1 - 25 3149 c.3126C>T c.(3124-3126)GGC>GGT p.G1042G PREX1_uc002xtv.1_Silent_p.G339G NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1042 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GGAGACCCTGGCCTTGGGGAT 0.627 NA 20 31 0 0 0 0 CDH4 1002 broad.mit.edu 37 20 60485513 60485513 + Silent SNP C C T rs148334531 TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr20:60485513C>T uc002ybn.1 + 9 1238 c.1224C>T c.(1222-1224)ACC>ACT p.T408T CDH4_uc002ybp.1_Silent_p.T334T NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 408 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCGTGGAGACCGTGGTCGCAA 0.478 NA 18 15 0 0 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737451 62737451 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr20:62737451C>T uc011abt.1 - 1 734 c.734G>A c.(733-735)CGC>CAC p.R245H NM_005286 NP_005277 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 245 Cytoplasmic (Potential). plasma membrane opioid receptor activity|protein binding large_intestine(1) 1 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) GGCTCCAGAGCGGAGCCGCAC 0.667 NA 9 13 0 0 0 0 DIP2A 23181 broad.mit.edu 37 21 47971553 47971553 + Missense_Mutation SNP G G T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr21:47971553G>T uc002zjo.2 + 24 3029 c.2846G>T c.(2845-2847)GGA>GTA p.G949V DIP2A_uc011afy.1_Missense_Mutation_p.G885V|DIP2A_uc011afz.1_Missense_Mutation_p.G945V NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 949 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CTAGAGGTTGGACCAGCCTCA 0.478 NA 13 7 9.05e-12 1.01e-11 1 0 PLXNB2 23654 broad.mit.edu 37 22 50728272 50728272 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr22:50728272G>A uc003bkv.3 - 3 848 c.742C>T c.(742-744)CGC>TGC p.R248C NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 248 Extracellular (Potential).|Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTGCACATGCGTGCCAGCAGC 0.637 NA 39 42 0 0 0 0 CACNA1D 776 broad.mit.edu 37 3 53700400 53700400 + Silent SNP G G A rs147336902 byFrequency TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr3:53700400G>A uc003dgv.3 + 7 1117 c.954G>A c.(952-954)GCG>GCA p.A318A CACNA1D_uc003dgu.3_Silent_p.A318A|CACNA1D_uc003dgy.3_Silent_p.A318A|CACNA1D_uc003dgw.3_5'UTR NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 318 Extracellular (Potential).|I. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CTCCATGTGCGTTCTCAGGGA 0.532 NA 8 126 0 0 0 0 KLF15 28999 broad.mit.edu 37 3 126062647 126062647 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr3:126062647G>A uc011bkk.1 - 3 1356 c.1174C>T c.(1174-1176)CGG>TGG p.R392W NM_014079 NP_054798 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 392 C2H2-type 3. nucleus DNA binding|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(114;0.147) TGGTCGCTCCGCGCGAACTTC 0.652 NA 10 22 0 0 0 0 ZIC4 84107 broad.mit.edu 37 3 147114186 147114186 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr3:147114186G>A uc003ewd.1 - 3 414 c.141C>T c.(139-141)CAC>CAT p.H47H ZIC4_uc003ewc.1_Translation_Start_Site|ZIC4_uc011bno.1_Silent_p.H97H NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 47 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GAGGCTCCTCGTGGAGGCCCG 0.672 NA 14 25 0 0 0 0 SLC2A2 6514 broad.mit.edu 37 3 170716163 170716163 + Missense_Mutation SNP T T A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr3:170716163T>A uc003fhe.1 - 10 1502 c.1193A>T c.(1192-1194)TAT>TTT p.Y398F SLC2A2_uc003fhf.1_Missense_Mutation_p.Y225F|SLC2A2_uc011bpu.1_Missense_Mutation_p.Y271F NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 398 Extracellular (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) CATGCTCACATAACTCATCCA 0.433 NA 15 23 0 0 0 0 STK32B 55351 broad.mit.edu 37 4 5170173 5170173 + Missense_Mutation SNP C C A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr4:5170173C>A uc003gih.1 + 3 320 c.256C>A c.(256-258)CTG>ATG p.L86M STK32B_uc010ida.1_Missense_Mutation_p.L39M NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 86 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 CCTGGTCAATCTGTGGTGAGT 0.552 NA 6 13 3.6e-05 3.86e-05 1 0 KIAA1211 57482 broad.mit.edu 37 4 57182512 57182512 + Silent SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr4:57182512C>T uc003hbk.2 + 8 3235 c.2844C>T c.(2842-2844)CAC>CAT p.H948H KIAA1211_uc010iha.2_Silent_p.H941H|KIAA1211_uc011bzz.1_Silent_p.H858H|KIAA1211_uc003hbm.1_Silent_p.H834H NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 948 Pro-rich. ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CTCCGGAGCACGACAAGGCAG 0.642 NA 9 23 0 0 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82369372 82369372 + Nonsense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr4:82369372G>A uc003hmi.1 - 5 649 c.505C>T c.(505-507)CAG>TAG p.Q169* RASGEF1B_uc003hmj.1_Nonsense_Mutation_p.Q168*|RASGEF1B_uc010ijq.1_Nonsense_Mutation_p.Q127* NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 169 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 TCTTCGTACTGGCTGAGCGCA 0.463 NA 76 105 0 0 0 0 NDST4 64579 broad.mit.edu 37 4 115891710 115891710 + Missense_Mutation SNP A A T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr4:115891710A>T uc003ibu.2 - 4 1776 c.1097T>A c.(1096-1098)CTT>CAT p.L366H NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 366 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CCGAAGTAAAAGGTCATCTCC 0.393 NA 17 17 0 0 0 0 FBXW7 55294 broad.mit.edu 37 4 153247244 153247244 + Missense_Mutation SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr4:153247244C>G uc003ims.2 - 10 1707 c.1558G>C c.(1558-1560)GAT>CAT p.D520H FBXW7_uc011cii.1_Missense_Mutation_p.D520H|FBXW7_uc003imt.2_Missense_Mutation_p.D520H|FBXW7_uc011cih.1_Missense_Mutation_p.D344H|FBXW7_uc003imq.2_Missense_Mutation_p.D440H|FBXW7_uc003imr.2_Missense_Mutation_p.D402H NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 520 WD 4. 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 p.D520N(1) 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) ACCATAAAATCATATGCTCCA 0.433 NA Mis|N|D|F colorectal|endometrial|T-ALL 102 35 0 0 0 0 PLRG1 5356 broad.mit.edu 37 4 155459166 155459166 + Missense_Mutation SNP T T C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr4:155459166T>C uc003iny.2 - 13 1309 c.1246A>G c.(1246-1248)ATT>GTT p.I416V PLRG1_uc003inz.2_Missense_Mutation_p.I407V NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 416 WD 6. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) AATGTGTTAATAATAGCATTA 0.308 NA 50 17 0 0 0 0 GRIA2 2891 broad.mit.edu 37 4 158254041 158254041 + Missense_Mutation SNP G G T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr4:158254041G>T uc003ipm.3 + 7 1412 c.953G>T c.(952-954)AGA>ATA p.R318I GRIA2_uc011cit.1_Missense_Mutation_p.R271I|GRIA2_uc003ipl.3_Missense_Mutation_p.R318I|GRIA2_uc003ipk.3_Missense_Mutation_p.R271I|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 318 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AGGAAGCAAAGAATTGAAATC 0.483 NA 26 39 9.78e-22 1.11e-21 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5319209 5319209 + Silent SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr5:5319209C>T uc003jdl.2 + 23 3771 c.3633C>T c.(3631-3633)TAC>TAT p.Y1211Y NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 1211 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ACAAGTTCTACGGCAAGCAGT 0.522 NA 7 7 0 0 0 0 SEMA5A 9037 broad.mit.edu 37 5 9050539 9050539 + Missense_Mutation SNP T T C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr5:9050539T>C uc003jek.2 - 21 3588 c.2876A>G c.(2875-2877)GAA>GGA p.E959G NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 959 Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CCTTTTCTCTTCTACGCTACT 0.363 NA 14 31 0 0 0 0 PDE4D 5144 broad.mit.edu 37 5 59284494 59284494 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr5:59284494G>A uc003jsb.2 - 3 306 c.93C>T c.(91-93)CGC>CGT p.R31R PDE4D_uc010iwj.1_Silent_p.R31R|PDE4D_uc003jse.1_Silent_p.R43R NM_006203 NP_006194 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 2 Error:Variant_position_missing_in_Q08499_after_alignment signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GTTCCATTCCGCGGAAAGGGT 0.428 NA 38 30 0 0 0 0 C5orf44 80006 broad.mit.edu 37 5 64946652 64946652 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr5:64946652G>A uc003jtz.3 + 6 774 c.444G>A c.(442-444)GTG>GTA p.V148V C5orf44_uc003jua.3_Silent_p.V148V|C5orf44_uc003juc.3_Silent_p.V148V|C5orf44_uc010iwv.2_Silent_p.V148V NM_024941 NP_079217 A5PLN9 CE044_HUMAN hypothetical protein LOC80006 isoform 2 148 ovary(1) 1 TATGTGCTGTGAGTTATACAA 0.289 NA 15 7 0 0 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176805 140176805 + Missense_Mutation SNP G G T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr5:140176805G>T uc003lhd.2 + 1 2362 c.2256G>T c.(2254-2256)CAG>CAT p.Q752H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.Q752H|PCDHA2_uc011czy.1_Missense_Mutation_p.Q752H NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 752 Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTACTCGCAGCAGAGGCGGC 0.672 NA 38 30 1.31e-17 1.47e-17 1 0 KCNMB1 3779 broad.mit.edu 37 5 169805970 169805970 + Missense_Mutation SNP T T A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr5:169805970T>A uc003maq.1 - 4 714 c.314A>T c.(313-315)TAC>TTC p.Y105F KCNIP1_uc003map.2_Intron NM_004137 NP_004128 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated 105 Extracellular (Potential). platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity ovary(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) GCCTGGGATGTAGGAGCACTG 0.478 NA 18 17 0 0 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139206 178139206 + Missense_Mutation SNP G G C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr5:178139206G>C uc003mjj.2 - 5 1871 c.1673C>G c.(1672-1674)ACT>AGT p.T558S NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 558 C2H2-type 12. regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) TTGTCTAAAAGTTTTTCCACA 0.373 NA 30 25 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38862507 38862507 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr6:38862507C>T uc003ooe.1 + 57 8563 c.7963C>T c.(7963-7965)CAT>TAT p.H2655Y NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTCTAAATTTCATTACATCTT 0.363 NA 19 10 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38890944 38890944 + Missense_Mutation SNP C C G rs147574550 byFrequency TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr6:38890944C>G uc003ooe.1 + 70 10722 c.10122C>G c.(10120-10122)TTC>TTG p.F3374L uc003oof.1_RNA NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GTAAAGAATTCAAAGCTCAGA 0.443 NA 3 29 0 0 0 0 KLHL31 401265 broad.mit.edu 37 6 53519694 53519694 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr6:53519694G>A uc003pcb.3 - 2 518 c.377C>T c.(376-378)GCA>GTA p.A126V NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN kelch repeat and BTB (POZ) domain containing 1 126 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent ovary(1) 1 Lung NSC(77;0.0158) GTAGGCATATGCAATGACAGT 0.413 NA 56 229 0 0 0 0 SLC35F1 222553 broad.mit.edu 37 6 118596680 118596680 + Missense_Mutation SNP T T G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr6:118596680T>G uc003pxx.3 + 5 897 c.696T>G c.(694-696)ATT>ATG p.I232M SLC35F1_uc003pxy.1_Missense_Mutation_p.I37M NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 232 Helical; (Potential). transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) TCTATGGTATTTCTAACGTCT 0.443 NA 25 44 0 0 0 0 RADIL 55698 broad.mit.edu 37 7 4917507 4917507 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:4917507G>A uc003snj.1 - 2 437 c.264C>T c.(262-264)AGC>AGT p.S88S RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 88 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GCTCACGGGCGCTGGAGGTGC 0.672 NA 7 53 0 0 0 0 EPDR1 54749 broad.mit.edu 37 7 37988563 37988563 + Missense_Mutation SNP T T A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:37988563T>A uc003tfp.2 + 2 770 c.751T>A c.(751-753)TCC>ACC p.S251T EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.S70T NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 131 cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 TCCTCAAAACTCCACCTTTGA 0.512 NA 7 82 0 0 0 0 TNS3 64759 broad.mit.edu 37 7 47342762 47342762 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:47342762G>A uc003tnv.2 - 22 3610 c.3243C>T c.(3241-3243)CAC>CAT p.H1081H TNS3_uc003tnw.2_Silent_p.H1081H NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 1081 focal adhesion protein binding ovary(4) 4 GGCCTGGACTGTGGTGGCTGC 0.667 NA 7 32 0 0 0 0 ABHD11 83451 broad.mit.edu 37 7 73152999 73152999 + Silent SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:73152999G>A uc003tzb.2 - 1 186 c.129C>T c.(127-129)GGC>GGT p.G43G RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Silent_p.G43G|ABHD11_uc003tzc.2_Silent_p.G43G|ABHD11_uc003tza.2_5'UTR|ABHD11_uc003tzf.2_Silent_p.G43G|ABHD11_uc011kfc.1_Silent_p.G43G NM_148912 NP_683710 Q8NFV4 ABHDB_HUMAN abhydrolase domain containing 11 isoform 1 43 hydrolase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) CCCCTCGGCCGCCGCTGCTGC 0.741 NA 4 4 0 0 0 0 PION 54103 broad.mit.edu 37 7 76984631 76984631 + Missense_Mutation SNP A A T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:76984631A>T uc003ugf.2 - 16 1316 c.1237T>A c.(1237-1239)TTA>ATA p.L413I PION_uc003ugg.1_Missense_Mutation_p.L198I NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 413 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 AGCTGTAATAAAGACGACTGG 0.502 NA 34 74 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82581457 82581457 + Missense_Mutation SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:82581457C>G uc003uhx.2 - 5 9101 c.8812G>C c.(8812-8814)GCT>CCT p.A2938P PCLO_uc003uhv.2_Missense_Mutation_p.A2938P|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2869 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CAGCACACAGCTCTTCTCCCT 0.433 NA 8 91 0 0 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963672 88963672 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:88963672C>T uc011khi.1 + 4 1914 c.1376C>T c.(1375-1377)ACG>ATG p.T459M NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 459 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CAATGGCCTACGGAACTTCTG 0.428 NA HNSCC(36;0.09) 23 52 0 0 0 0 CUX1 1523 broad.mit.edu 37 7 101740740 101740740 + Missense_Mutation SNP T T G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:101740740T>G uc003uyx.3 + 5 403 c.365T>G c.(364-366)CTG>CGG p.L122R CUX1_uc003uys.3_Missense_Mutation_p.L133R|CUX1_uc003uyt.2_Missense_Mutation_p.L133R|CUX1_uc011kkn.1_Missense_Mutation_p.L96R|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Missense_Mutation_p.L117R|CUX1_uc003uyu.2_Missense_Mutation_p.L133R NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 122 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 AGGGAAACTCTGGAAGAATAC 0.378 NA 6 64 0 0 0 0 C7orf58 79974 broad.mit.edu 37 7 120737809 120737809 + Missense_Mutation SNP C C T rs144805034 byFrequency TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:120737809C>T uc003vjq.3 + 6 1120 c.673C>T c.(673-675)CCG>TCG p.P225S C7orf58_uc003vjr.1_Missense_Mutation_p.P225S|C7orf58_uc003vjs.3_Missense_Mutation_p.P225S|C7orf58_uc003vjt.3_Missense_Mutation_p.P5S|C7orf58_uc010lkk.1_Missense_Mutation_p.P5S NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 225 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GCAATTAAAGCCGAGTACTTC 0.428 NA 6 109 0 0 0 0 LMOD2 442721 broad.mit.edu 37 7 123302785 123302785 + Missense_Mutation SNP G G C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:123302785G>C uc003vky.2 + 2 1302 c.1145G>C c.(1144-1146)AGA>ACA p.R382T NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 382 cytoskeleton actin binding|tropomyosin binding 0 GTCTGGCAAAGAGGAACACCT 0.488 NA 32 47 0 0 0 0 PARP12 64761 broad.mit.edu 37 7 139741483 139741483 + Missense_Mutation SNP C C A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:139741483C>A uc003vvl.1 - 6 2017 c.1143G>T c.(1141-1143)TGG>TGT p.W381C PARP12_uc003vvk.1_Missense_Mutation_p.W167C|PARP12_uc010lnf.1_RNA NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN poly ADP-ribose polymerase 12 381 WWE 2. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding ovary(3) 3 Melanoma(164;0.0142) ACTCATCACTCCAGTACCAAA 0.512 NA 74 125 1.36e-49 1.57e-49 1 0 WEE2 494551 broad.mit.edu 37 7 141408764 141408764 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:141408764C>T uc003vwn.2 + 1 612 c.206C>T c.(205-207)TCT>TTT p.S69F FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 69 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) CTCGACACATCTTCGGAAAAA 0.522 NA 15 191 0 0 0 0 PRSS37 136242 broad.mit.edu 37 7 141537030 141537030 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr7:141537030C>T uc003vws.1 - 4 821 c.449G>A c.(448-450)CGG>CAG p.R150Q PRSS37_uc011krk.1_Missense_Mutation_p.R137Q|PRSS37_uc011krl.1_Missense_Mutation_p.R149Q|PRSS37_uc003vwt.1_Missense_Mutation_p.R137Q NM_001008270 NP_001008271 A4D1T9 PRS37_HUMAN protease, serine, 37 precursor 150 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity skin(1) 1 CAGGTTCTGCCGCAAGTCAGG 0.458 NA 24 60 0 0 0 0 IMPA1 3612 broad.mit.edu 37 8 82572902 82572902 + Silent SNP C C G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr8:82572902C>G uc003ych.2 - 8 694 c.567G>C c.(565-567)GGG>GGC p.G189G IMPA1_uc011lfq.1_Silent_p.G248G|IMPA1_uc011lfr.1_Missense_Mutation_p.G153A NM_005536 NP_005527 P29218 IMPA1_HUMAN inositol(myo)-1(or 4)-monophosphatase 1 isoform 189 inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity skin(1) 1 Lithium(DB01356) CACTCCGGATCCTAACAAATA 0.378 NA 10 35 0 0 0 0 CNBD1 168975 broad.mit.edu 37 8 87951834 87951834 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr8:87951834G>A uc003ydy.2 + 4 331 c.283G>A c.(283-285)GAA>AAA p.E95K NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 95 ovary(3) 3 GGAACTCAATGAAGGCAAAGA 0.338 NA 12 62 0 0 0 0 FAM49B 51571 broad.mit.edu 37 8 130854420 130854420 + Missense_Mutation SNP T T C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr8:130854420T>C uc003yss.2 - 15 1492 c.943A>G c.(943-945)ACC>GCC p.T315A FAM49B_uc003yst.2_Missense_Mutation_p.T315A|FAM49B_uc003ysu.2_Missense_Mutation_p.T315A|FAM49B_uc003ysv.2_Missense_Mutation_p.T169A|FAM49B_uc003ysw.2_Missense_Mutation_p.T315A|FAM49B_uc003ysx.2_Missense_Mutation_p.T315A NM_016623 NP_057707 Q9NUQ9 FA49B_HUMAN hypothetical protein LOC51571 315 0 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) TGCTTGGAGGTAGTCTCATCA 0.328 NA 5 47 0 0 0 0 ADCY8 114 broad.mit.edu 37 8 131964216 131964216 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr8:131964216C>T uc003ytd.3 - 3 1395 c.1139G>A c.(1138-1140)CGG>CAG p.R380Q ADCY8_uc010mds.2_Missense_Mutation_p.R380Q NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 380 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport 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) GACAACAAACCGGGGGAGCAC 0.547 NA HNSCC(32;0.087) 21 21 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139706770 139706770 + Missense_Mutation SNP T T A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr8:139706770T>A uc003yvd.2 - 34 3128 c.2681A>T c.(2680-2682)CAG>CTG p.Q894L COL22A1_uc011ljo.1_Missense_Mutation_p.Q194L NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 894 Pro-rich.|Gly-rich.|Collagen-like 7. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGTGGGTCCCTGAGGCCCCAA 0.612 NA HNSCC(7;0.00092) 58 59 0 0 0 0 UHRF2 115426 broad.mit.edu 37 9 6460622 6460622 + Nonsense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr9:6460622C>T uc003zjy.2 + 4 1034 c.694C>T c.(694-696)CGA>TGA p.R232* UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Nonsense_Mutation_p.R9* NM_152896 NP_690856 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 232 Interaction with PCNP. cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) TCTTAGACCACGAGCTAGAAC 0.373 NA 30 34 0 0 0 0 PRKACG 5568 broad.mit.edu 37 9 71628058 71628058 + Silent SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr9:71628058C>T uc004agy.2 - 1 982 c.951G>A c.(949-951)CCG>CCA p.P317P NM_002732 NP_002723 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, 317 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity ovary(1)|pancreas(1)|skin(1) 3 CTGTGTACTTCGGGATGAAGG 0.532 NA 40 11 0 0 0 0 PAPPA 5069 broad.mit.edu 37 9 118973944 118973944 + Missense_Mutation SNP T T C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr9:118973944T>C uc004bjn.2 + 4 2032 c.1651T>C c.(1651-1653)TAT>CAT p.Y551H PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 551 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CCCATCTTTCTATGGCATGCC 0.517 NA 26 49 0 0 0 0 FPGS 2356 broad.mit.edu 37 9 130566689 130566689 + Silent SNP G G T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr9:130566689G>T uc004bsg.1 + 2 314 c.264G>T c.(262-264)CTG>CTT p.L88L FPGS_uc004bsf.1_RNA|FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Silent_p.L88L|FPGS_uc004bsi.1_Silent_p.L38L NM_004957 NP_004948 Q05932 FOLC_HUMAN folylpolyglutamate synthase isoform a precursor 88 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity 0 L-Glutamic Acid(DB00142) GGAGTGGGCTGCAGGTAAGGT 0.607 NA 22 32 1.37e-18 1.54e-18 1 0 WDR34 89891 broad.mit.edu 37 9 131396039 131396039 + Missense_Mutation SNP G G T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr9:131396039G>T uc004bvq.1 - 9 1719 c.1595C>A c.(1594-1596)GCA>GAA p.A532E WDR34_uc004bvs.1_Missense_Mutation_p.A523E|WDR34_uc004bvr.1_Missense_Mutation_p.A504E NM_052844 NP_443076 Q96EX3 WDR34_HUMAN WD repeat domain 34 532 cytoplasm central_nervous_system(2)|skin(1) 3 CGCCACCTCTGCTGCCAGGCA 0.627 NA 122 166 1.61e-73 1.87e-73 1 0 FAM47C 442444 broad.mit.edu 37 X 37028771 37028771 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chrX:37028771G>A uc004ddl.1 + 1 2302 c.2288G>A c.(2287-2289)CGC>CAC p.R763H NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 763 ovary(3) 3 TCTCATCTCCGCCCGGAGCCT 0.627 NA 15 8 0 0 0 0 CCNB3 85417 broad.mit.edu 37 X 50053854 50053854 + Silent SNP T T G TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chrX:50053854T>G uc004dox.3 + 6 2983 c.2685T>G c.(2683-2685)TCT>TCG p.S895S CCNB3_uc004doy.2_Silent_p.S895S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 895 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) TCAAGGAGTCTTTGGACTTGC 0.502 NA 7 8 0 0 0 0 DGKK 139189 broad.mit.edu 37 X 50121103 50121103 + Missense_Mutation SNP T T A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chrX:50121103T>A uc010njr.1 - 23 3165 c.3105A>T c.(3103-3105)AGA>AGT p.R1035S NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 1035 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TTACCCGATCTCTTGTCAGCA 0.453 NA 20 16 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53622348 53622348 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chrX:53622348C>T uc004dsp.2 - 30 3581 c.3179G>A c.(3178-3180)GGC>GAC p.G1060D HUWE1_uc004dsn.2_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1060 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AAGTGCTCGGCCTAATCTGGA 0.423 NA 12 2 0 0 0 0 MAGED2 10916 broad.mit.edu 37 X 54836452 54836452 + Missense_Mutation SNP G G C TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chrX:54836452G>C uc004dtk.1 + 3 437 c.343G>C c.(343-345)GCT>CCT p.A115P MAGED2_uc004dtl.1_Missense_Mutation_p.A115P|MAGED2_uc004dtm.1_Missense_Mutation_p.A77P|MAGED2_uc010nkc.1_Missense_Mutation_p.A115P|MAGED2_uc004dtn.1_Missense_Mutation_p.A115P|MAGED2_uc004dto.1_Missense_Mutation_p.A89P NM_177433 NP_803182 Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 115 ovary(2)|breast(1) 3 TGACCCGCAGGCTGTGACAAT 0.527 NA 3 13 0 0 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962753 73962753 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chrX:73962753G>A uc004eby.2 - 3 2256 c.1639C>T c.(1639-1641)CGC>TGC p.R547C NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 547 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CCTTTAAAGCGATTAATGATG 0.403 NA 29 22 0 0 0 0 CXorf57 55086 broad.mit.edu 37 X 105881011 105881011 + Missense_Mutation SNP C C T TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chrX:105881011C>T uc004emi.3 + 8 1581 c.1430C>T c.(1429-1431)ACG>ATG p.T477M CXorf57_uc004emj.3_Missense_Mutation_p.T477M|CXorf57_uc004emh.2_Missense_Mutation_p.T477M NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 477 p.T477M(1) ovary(1)|lung(1)|breast(1) 3 CAGCCGTATACGTATGATGCC 0.373 NA 4 47 0 0 0 0 RGAG1 57529 broad.mit.edu 37 X 109694160 109694160 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chrX:109694160G>A uc004eor.1 + 3 561 c.315G>A c.(313-315)ATG>ATA p.M105I RGAG1_uc011msr.1_Missense_Mutation_p.M105I NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 105 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CATTGCTAATGCCAGCCTCAG 0.527 NA 89 44 0 0 0 0 DDX26B 203522 broad.mit.edu 37 X 134714085 134714085 + Missense_Mutation SNP G G A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chrX:134714085G>A uc004eyw.3 + 15 2744 c.2381G>A c.(2380-2382)CGA>CAA p.R794Q DDX26B_uc004eyx.3_Missense_Mutation_p.R395Q NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 794 0 Acute lymphoblastic leukemia(192;6.56e-05) AAGTTTGGTCGAAGTAAGTAG 0.388 NA 6 37 0 0 0 0 NOC3L 64318 broad.mit.edu 37 10 96097619 96097620 + Frame_Shift_Ins INS - - A TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr10:96097619_96097620insA uc001kjq.1 - 19 2191_2192 c.2103_2104insT c.(2101-2106)CATCCCfs p.H701fs NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 701_702 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) TGCACTATGGGATGATAATGCC 0.431 NA 13 33 --- --- --- --- NA NA NA NA UHRF1BP1L 23074 broad.mit.edu 37 12 100441863 100441865 + In_Frame_Del DEL AAT AAT - TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr12:100441863_100441865delAAT uc001tgq.2 - 18 4057_4059 c.3828_3830delATT c.(3826-3831)GGATTT>GGT p.F1277del UHRF1BP1L_uc001tgp.2_In_Frame_Del_p.F927del NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 1277 ovary(2) 2 GCACTGCAGAAATCCATTTTTTT 0.365 NA 19 27 --- --- --- --- NA NA NA NA KIAA0753 9851 broad.mit.edu 37 17 6493123 6493139 + Frame_Shift_Del DEL AAGGAGCCTACAGCCTC AAGGAGCCTACAGCCTC - TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr17:6493123_6493139delAAGGAGCCTACAGCCTC uc002gde.3 - 18 3105_3121 c.2746_2762delGAGGCTGTAGGCTCCTT c.(2746-2763)GAGGCTGTAGGCTCCTTCfs p.E916fs KIAA0753_uc010vtd.1_Frame_Shift_Del_p.E372fs|KIAA0753_uc010clo.2_Frame_Shift_Del_p.E617fs|KIAA0753_uc010vte.1_Frame_Shift_Del_p.E617fs NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 916_921 centrosome 0 COAD - Colon adenocarcinoma(228;0.157) CCACGGGTTGAAGGAGCCTACAGCCTCATGAGATATG 0.47 NA 12 63 --- --- --- --- NA NA NA NA TLE1 7088 broad.mit.edu 37 9 84202720 84202720 + Frame_Shift_Del DEL C C - TCGA-CQ-5332-01A-01D-1683-08 TCGA-CQ-5332-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4fdf4f0d-0a55-4b5e-8545-65f1aad37c10 55e19ee2-02cb-4f91-9108-1a71faad685d g.chr9:84202720delC uc004aly.2 - 17 2294 c.1853delG c.(1852-1854)GGAfs p.G618fs TLE1_uc004alz.2_Frame_Shift_Del_p.G628fs|TLE1_uc011lsr.1_Frame_Shift_Del_p.G603fs NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 618 WD 4. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 ACAGCTGGCTCCGTCTGTGTG 0.502 NA 35 52 --- --- --- --- NA NA NA NA