Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut LOC101927209 101927209 broad.mit.edu 37 1 142713458 142713458 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:142713458G>T ENST00000369381.2 - 0 1147 TTACTTGTACGGAAACGTCTT 0.328000 19 29 2.94398e-08 3.65172e-08 1 1 0 DAGLA 747 broad.mit.edu 37 11 61495623 61495623 + Splice_Site SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:61495623A>T ENST00000257215.5 + 7 752 c.e7-1 NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TGGACCTCGTAGGATGCCTAC 0.607000 30 42 0 0 1 0 0 CXorf66 347487 broad.mit.edu 37 X 139038281 139038281 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:139038281G>T ENST00000370540.1 - 3 883 c.860C>A c.(859-861)tCt>tAt p.S287Y NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 287 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 CTTTGCCTCAGAAATATCATT 0.388000 87 15 3.71514e-35 6.64343e-35 1 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84608041 84608041 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:84608041G>C ENST00000344803.2 + 4 2703 c.2656G>C c.(2656-2658)Gtt>Ctt p.V886L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GGACCACTGCGTTGATACTTC 0.438000 15 41 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145111990 145111990 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:145111990C>T ENST00000426825.1 - 12 1648 c.1567G>A c.(1567-1569)Gcc>Acc p.A523T OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 523 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) TCAGCCAGGGCCAGCCCCAGG 0.672000 7 1 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53189282 53189282 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:53189282G>C ENST00000417996.2 - 1 619 c.545C>G c.(544-546)cCc>cGc p.P182R KRT3_ENST00000309505.3_Missense_Mutation_p.P182R NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 182 Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CACATTGAGGGGCTGCAGGAG 0.562000 17 29 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74817551 74817551 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:74817551A>T ENST00000358399.3 + 3 370 c.277A>T c.(277-279)Agt>Tgt p.S93C GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.S19C|GDA_ENST00000376989.3_Missense_Mutation_p.S68C|GDA_ENST00000238018.4_Missense_Mutation_p.S93C|GDA_ENST00000376986.1_Missense_Mutation_p.S51C NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 93 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CTTTGCTGGAAGTAGCATAGA 0.418000 30 74 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110131526 110131526 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:110131526A>T ENST00000518632.1 + 3 1390 c.1039A>T c.(1039-1041)Aac>Tac p.N347Y TRHR_ENST00000311762.2_Missense_Mutation_p.N347Y P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 347 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GAAACCTGCTAACTACAGTGT 0.478000 61 215 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83748689 83748689 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:83748689C>T ENST00000432794.1 - 25 3326 c.3163G>A c.(3163-3165)Gct>Act p.A1055T SEC31A_ENST00000348405.4_Missense_Mutation_p.A1003T|SEC31A_ENST00000505984.1_Missense_Mutation_p.A988T|SEC31A_ENST00000500777.2_Missense_Mutation_p.A889T|SEC31A_ENST00000311785.7_Missense_Mutation_p.A928T|SEC31A_ENST00000448323.1_Missense_Mutation_p.A1042T|SEC31A_ENST00000509142.1_Missense_Mutation_p.A928T|SEC31A_ENST00000395310.2_Missense_Mutation_p.A1042T|SEC31A_ENST00000326950.5_Missense_Mutation_p.A1003T|SEC31A_ENST00000505472.1_Missense_Mutation_p.A1073T|SEC31A_ENST00000443462.2_Missense_Mutation_p.A1022T|SEC31A_ENST00000355196.2_Missense_Mutation_p.A1042T|SEC31A_ENST00000264405.5_Missense_Mutation_p.A791T|SEC31A_ENST00000508502.1_Missense_Mutation_p.A1027T|SEC31A_ENST00000513858.1_Missense_Mutation_p.A889T O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 1042 Interaction with PDCD6.|Pro-rich. P -> T (in dbSNP:rs35739017). COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GGTACTGGAGCTGAAGGCTGT 0.532000 55 74 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277185 152277185 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:152277185G>C ENST00000368799.1 - 3 10212 c.10177C>G c.(10177-10179)Cat>Gat p.H3393D FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3393 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTGTTCATGAGTGCTCACC 0.617000 Ichthyosis 100 533 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921778 24921778 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:24921778C>A ENST00000329468.2 + 1 1238 c.764C>A c.(763-765)cCt>cAt p.P255H NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTTGGAAAGCCTGATCCGGAT 0.647000 28 10 7.76418e-22 1.24327e-21 1 1 0 BTNL2 56244 broad.mit.edu 37 6 32372945 32372945 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:32372945G>T ENST00000454136.3 - 2 202 c.198C>A c.(196-198)taC>taA p.Y66* BTNL2_ENST00000429232.2_Nonsense_Mutation_p.Y66*|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374993.1_Nonsense_Mutation_p.Y66*|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.Y66* Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 66 Ig-like V-type 1. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 GCTCTGAGCGGTACCACCTCA 0.582000 163 24 1.6827e-80 3.20576e-80 1 1 0 KRT33B 3884 broad.mit.edu 37 17 39525942 39525942 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:39525942A>T ENST00000251646.3 - 1 110 c.61T>A c.(61-63)Tgt>Agt p.C21S NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 21 Head. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) GGGGGCACACAGGGCCGGGAG 0.632000 19 39 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156639929 156639929 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:156639929C>A ENST00000368223.3 - 4 4183 c.4051G>T c.(4051-4053)Gag>Tag p.E1351* NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1351 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) tcctccccctcctccttttcT 0.617000 40 62 6.5261e-18 9.80565e-18 1 1 0 ASMT 438 broad.mit.edu 37 X 1755360 1755360 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:1755360G>T ENST00000381241.3 + 8 1016 c.817G>T c.(817-819)Gct>Tct p.A273S ASMT_ENST00000381229.4_Missense_Mutation_p.A245S|ASMT_ENST00000381233.3_Missense_Mutation_p.A198S NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 245 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTTCCGGAAGCTGATCTGTA 0.537000 34 23 9.17885e-22 1.46507e-21 1 1 0 C1orf106 55765 broad.mit.edu 37 1 200877000 200877000 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:200877000C>G ENST00000367342.4 + 6 1014 c.814C>G c.(814-816)Ctc>Gtc p.L272V C1orf106_ENST00000413687.2_Missense_Mutation_p.L187V NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 272 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GTCAGATGGGCTCCTCCTGGA 0.507000 13 20 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3680041 3680041 + Nonsense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:3680041T>A ENST00000344754.4 - 7 1593 c.1594A>T c.(1594-1596)Aga>Tga p.R532* SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.R532* NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 532 Ig-like C2-type 5. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGGCCGCTTCTGCAGCTCAGT 0.677000 4 8 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114682278 114682278 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:114682278G>A ENST00000393296.1 - 2 548 c.471C>T c.(469-471)acC>acT p.T157T SYT6_ENST00000369547.1_Silent_p.T72T Q5T7P8 SYT6_HUMAN synaptotagmin VI 157 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCTGCAGCCGGGTGTGACGCA 0.607000 10 14 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55453062 55453062 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:55453062T>C ENST00000588756.1 - 4 504 c.18A>G c.(16-18)ctA>ctG p.L6L NLRP7_ENST00000340844.2_Silent_p.L6L|NLRP7_ENST00000592784.1_Silent_p.L6L|NLRP7_ENST00000590030.1_Silent_p.L6L|NLRP7_ENST00000328092.5_Silent_p.L6L|NLRP7_ENST00000446217.1_Silent_p.L34L|NLRP7_ENST00000448121.2_Silent_p.L6L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 6 DAPIN. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GAGTCCACTCTAGCTGGGGCG 0.468000 7 41 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79684440 79684440 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:79684440C>A ENST00000331531.5 + 8 666 c.546C>A c.(544-546)taC>taA p.Y182* SLC25A10_ENST00000545862.1_Nonsense_Mutation_p.Y139*|SLC25A10_ENST00000571730.1_Nonsense_Mutation_p.Y337*|SLC25A10_ENST00000541223.1_Nonsense_Mutation_p.Y337*|SLC25A10_ENST00000350690.5_Nonsense_Mutation_p.Y182* NM_001270888.1 NP_001257817.1 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 182 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) TGTCCTGCTACGACCAGGCCA 0.612000 55 49 7.89702e-26 1.32151e-25 1 1 0 ABCA5 23461 broad.mit.edu 37 17 67270188 67270188 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:67270188G>A ENST00000392676.3 - 20 2740 c.2676C>T c.(2674-2676)ccC>ccT p.P892P ABCA5_ENST00000392677.2_Silent_p.P892P|ABCA5_ENST00000588877.1_Silent_p.P892P Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 892 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CAAGTTTGATGGGAACCACAG 0.323000 40 90 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41032899 41032899 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:41032899C>A ENST00000399564.4 - 24 2836 c.2386G>T c.(2386-2388)Gat>Tat p.D796Y MROH2B_ENST00000506092.2_Missense_Mutation_p.D351Y NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GCTAAGGAATCCAGGGGCTCG 0.403000 14 13 4.3838e-07 5.27476e-07 1 1 0 NELL1 4745 broad.mit.edu 37 11 20699561 20699561 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:20699561C>G ENST00000298925.5 + 3 376 c.223C>G c.(223-225)Cag>Gag p.Q75E NELL1_ENST00000357134.5_Missense_Mutation_p.Q47E|NELL1_ENST00000532434.1_Missense_Mutation_p.Q47E|NELL1_ENST00000325319.5_Missense_Mutation_p.Q47E Q92832 NELL1_HUMAN NEL-like 1 (chicken) 47 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TGGAGTTGCTCAGGTGTCTGG 0.507000 35 52 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77895672 77895672 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:77895672G>T ENST00000262198.4 + 4 2831 c.2376G>T c.(2374-2376)agG>agT p.R792S NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 792 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GCAGGAATAGGCACCTGGGGA 0.463000 37 39 4.11147e-13 5.68869e-13 1 1 0 ALDH8A1 64577 broad.mit.edu 37 6 135254062 135254062 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:135254062G>A ENST00000265605.2 - 5 769 c.701C>T c.(700-702)cCc>cTc p.P234L ALDH8A1_ENST00000367845.2_Missense_Mutation_p.P234L|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.P184L NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 234 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CTCAGCGGTGGGCTGGCTCCC 0.627000 21 29 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105421104 105421104 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:105421104G>T ENST00000333244.5 - 7 803 c.684C>A c.(682-684)acC>acA p.T228T NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 228 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTTCGTGGGGGTCTCTCTGC 0.592000 22 19 8.04996e-18 1.20587e-17 1 1 0 SCAI 286205 broad.mit.edu 37 9 127781386 127781386 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:127781386C>A ENST00000336505.5 - 8 766 c.708_splice c.e8+1 p.E236_splice SCAI_ENST00000373549.4_Splice_Site_p.E259_splice NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 236 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 AAAAACTGACCTCAATGAAAG 0.313000 14 17 0.0202918 0.0209837 1 1 0 KCTD11 147040 broad.mit.edu 37 17 7256789 7256789 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:7256789G>T ENST00000333751.3 + 1 1582 c.528G>T c.(526-528)ctG>ctT p.L176L RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 176 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) GACTGGGGCTGCAGCCGCTGT 0.692000 17 5 0.000566183 0.000617277 1 1 0 TNFSF9 8744 broad.mit.edu 37 19 6531264 6531264 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:6531264G>T ENST00000245817.3 + 1 255 c.217G>T c.(217-219)Ggt>Tgt p.G73C NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 73 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 ACTCCGCGAGGGTCCCGAGCT 0.756000 10 0 2.17888e-05 2.4735e-05 1 1 0 ABCG4 64137 broad.mit.edu 37 11 119029412 119029412 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:119029412C>G ENST00000307417.3 + 11 1677 c.1313C>G c.(1312-1314)gCc>gGc p.A438G ABCG4_ENST00000531739.1_Missense_Mutation_p.A438G|ABCG4_ENST00000449422.2_Missense_Mutation_p.A438G NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 438 ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) ATGTTCGCCGCCCTCATGCCA 0.632000 29 57 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182850427 182850427 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:182850427G>T ENST00000367549.3 + 23 2763 c.2653G>T c.(2653-2655)Gct>Tct p.A885S DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 885 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TACCATTGCTGCTGCTACCTG 0.458000 47 76 1.03325e-14 1.46928e-14 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91134203 91134203 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:91134203C>A ENST00000373094.1 + 2 3809 c.2964C>A c.(2962-2964)ccC>ccA p.P988P PCDH11X_ENST00000395337.2_Silent_p.P988P|PCDH11X_ENST00000504220.1_Silent_p.P988P|PCDH11X_ENST00000361655.2_Silent_p.P988P|PCDH11X_ENST00000406881.1_Silent_p.P988P|PCDH11X_ENST00000373097.1_Silent_p.P988P|PCDH11X_ENST00000298274.8_Silent_p.P988P|PCDH11X_ENST00000361724.1_Silent_p.P988P|PCDH11X_ENST00000373088.1_Silent_p.P988P NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 988 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GTTCAGATCCCTACAGCGTTT 0.493000 76 21 1.38705e-31 2.43348e-31 1 1 0 LY75 4065 broad.mit.edu 37 2 160673341 160673341 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:160673341T>C ENST00000263636.4 - 30 4383 c.4356A>G c.(4354-4356)ctA>ctG p.L1452L LY75_ENST00000554112.1_Silent_p.L1452L|LY75_ENST00000553424.1_Silent_p.L1452L|LY75-CD302_ENST00000505052.1_Silent_p.L1452L|LY75-CD302_ENST00000504764.1_Silent_p.L1452L NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) GCCCAACCCATAGTGGAAATC 0.388000 39 72 0 0 1 0 0 CEP112 201134 broad.mit.edu 37 17 63637170 63637170 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:63637170C>A ENST00000392769.2 - 25 2929 c.2711G>T c.(2710-2712)cGa>cTa p.R904L CEP112_ENST00000537949.1_Missense_Mutation_p.R862L|CEP112_ENST00000317442.8_Missense_Mutation_p.R160L|CEP112_ENST00000541355.1_Missense_Mutation_p.R468L|CEP112_ENST00000535342.2_Missense_Mutation_p.R904L NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 904 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 ATATTCTTGTCGTATGTAAGT 0.323000 35 94 1.26612e-14 1.79699e-14 1 1 0 OR6Q1 219952 broad.mit.edu 37 11 57798932 57798932 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:57798932C>A ENST00000302622.3 + 1 531 c.508C>A c.(508-510)Cta>Ata p.L170I OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) CTTGTCTCAGCTAACATTTTA 0.522000 31 68 1.06801e-11 1.42979e-11 1 1 0 EIF4G1 1981 broad.mit.edu 37 3 184045221 184045221 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:184045221C>T ENST00000342981.4 + 23 4063 c.3649C>T c.(3649-3651)Cgt>Tgt p.R1217C EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1130C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1223C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R1021C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1216C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1223C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1052C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1216C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1129C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1223C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1053C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1177C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R1020C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1176C NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1216 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGATCGGGACCGTGGGCGGGA 0.617000 29 44 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66436706 66436706 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:66436706C>A ENST00000383703.3 - 14 2163 c.1560G>T c.(1558-1560)caG>caT p.Q520H SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.Q496H Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 496 Ig-like C2-type 1.|Poly-Ser. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GGGTGATGATCTGTGGCTTCA 0.537000 16 114 6.94344e-10 8.97214e-10 1 1 0 UTP23 84294 broad.mit.edu 37 8 117778951 117778951 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:117778951G>T ENST00000309822.2 + 1 210 c.109G>T c.(109-111)Gcg>Tcg p.A37S UTP23_ENST00000517820.1_Missense_Mutation_p.A37S|UTP23_ENST00000357148.3_Missense_Mutation_p.A37S NM_032334.2 NP_115710.2 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, homolog (yeast) 37 rRNA processing nucleolus breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 12 CTTCTGTCAGGCGGCGCTGCG 0.657000 OREG0018934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 20 0.00448238 0.00471729 1 1 0 ZNF681 148213 broad.mit.edu 37 19 23927112 23927112 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:23927112T>A ENST00000402377.3 - 4 1381 c.1240A>T c.(1240-1242)Agc>Tgc p.S414C ZNF681_ENST00000395385.3_Missense_Mutation_p.S345C NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GTATGAATGCTCTTATGTCTA 0.368000 42 15 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 100964121 100964121 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:100964121C>A ENST00000369162.2 - 39 6354 c.6010G>T c.(6010-6012)Gga>Tga p.G2004* NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 2004 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TCTTTCCCTCCACAGGCATGG 0.468000 12 54 2.39556e-15 3.43943e-15 1 1 0 GPRIN3 285513 broad.mit.edu 37 4 90169364 90169364 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:90169364C>A ENST00000333209.3 - 2 2416 c.1898G>T c.(1897-1899)cGc>cTc p.R633L NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 633 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GCTGGGCCTGCGTGGGCTGGC 0.572000 28 37 1.17739e-12 1.60809e-12 1 1 0 FAM83C 128876 broad.mit.edu 37 20 33876682 33876682 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:33876682A>T ENST00000374408.3 - 2 689 c.593T>A c.(592-594)gTc>gAc p.V198D NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 198 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GTACACAGGGACACCACGCCG 0.602000 41 42 0 0 1 0 0 CHCHD3 54927 broad.mit.edu 37 7 132659949 132659949 + Missense_Mutation SNP G G A rs144725283 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:132659949G>A ENST00000262570.5 - 4 493 c.349C>T c.(349-351)Cgc>Tgc p.R117C CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Missense_Mutation_p.R117C|CHCHD3_ENST00000542753.1_Missense_Mutation_p.R117C NM_017812.2 NP_060282.1 Q9NX63 CHCH3_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 3 117 inner mitochondrial membrane organization|mitochondrial fusion mitochondrial inner membrane protein complex scaffold endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 7 GCCTTAGCGCGTTCCTCCTCG 0.478000 8 80 0 0 1 0 0 PHACTR2 9749 broad.mit.edu 37 6 144081661 144081661 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:144081661G>T ENST00000427704.2 + 5 675 c.545G>T c.(544-546)gGg>gTg p.G182V PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000440869.2_Missense_Mutation_p.G193V|PHACTR2_ENST00000305766.6_Intron NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 182 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) GCCACTGCTGGGGCCAGCCAC 0.562000 16 22 1.3612e-06 1.60536e-06 1 1 0 SLC4A4 8671 broad.mit.edu 37 4 72102328 72102328 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:72102328C>T ENST00000425175.1 + 2 152 c.35C>T c.(34-36)tCc>tTc p.S12F SLC4A4_ENST00000351898.6_Missense_Mutation_p.S12F|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S12F NM_001134742.1 NP_001128214.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 12 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGAGGGGCTTCCTTCCTCAAG 0.433000 16 15 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55356413 55356413 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:55356413G>A ENST00000524622.1 - 7 1516 c.855C>T c.(853-855)acC>acT p.T285T TESPA1_ENST00000532804.1_Silent_p.T285T|TESPA1_ENST00000449076.1_Silent_p.T423T|TESPA1_ENST00000531122.1_Silent_p.T285T|TESPA1_ENST00000316577.8_Silent_p.T423T NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 423 TGGCTGGATGGGTTTCCGTAT 0.498000 57 79 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65269018 65269018 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:65269018G>T ENST00000534336.1 + 0 3786 NR_002819.2 TAACAGGGAAGAGAGAGGGTG 0.403000 12 33 6.40141e-05 7.18467e-05 1 1 0 MPEG1 219972 broad.mit.edu 37 11 58979598 58979598 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:58979598G>T ENST00000361050.3 - 1 826 c.741C>A c.(739-741)acC>acA p.T247T NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 247 MACPF. integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) TGAAGTTCACGGTGTTTTGAA 0.532000 9 22 0.000274275 0.000301459 1 1 0 CERCAM 51148 broad.mit.edu 37 9 131196737 131196737 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:131196737G>C ENST00000372842.1 + 12 4290 c.1146G>C c.(1144-1146)gaG>gaC p.E382D CERCAM_ENST00000372838.4_Missense_Mutation_p.E460D Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 460 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 CGGCCGTGGAGGGGCTGCCGG 0.657000 14 48 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66405926 66405926 + Splice_Site SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:66405926G>A ENST00000404260.3 + 11 1674 c.1365_splice c.e11-1 p.A456_splice MAST4_ENST00000261569.7_Splice_Site_p.A259_splice|MAST4_ENST00000405643.1_Splice_Site_p.A274_splice|MAST4_ENST00000403666.1_Splice_Site_p.A264_splice|MAST4_ENST00000403625.2_Splice_Site_p.A453_splice|MAST4_ENST00000490016.2_Splice_Site_p.A264_splice O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 456 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TTTTTCATAGGCTCATGATCG 0.368000 8 75 0 0 1 0 0 ETFDH 2110 broad.mit.edu 37 4 159616787 159616787 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:159616787C>A ENST00000511912.1 + 7 1155 c.823C>A c.(823-825)Ctg>Atg p.L275M ETFDH_ENST00000307738.5_Missense_Mutation_p.L228M NM_004453.2 NP_004444.2 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 275 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3) 28 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) CGGGATTGGACTGAAGGAGGT 0.318000 11 50 1.58986e-06 1.8632e-06 1 1 0 TSKS 60385 broad.mit.edu 37 19 50247551 50247551 + Missense_Mutation SNP C C A rs144943269 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:50247551C>A ENST00000246801.3 - 8 1380 c.1298G>T c.(1297-1299)aGa>aTa p.R433I TSKS_ENST00000358830.3_Missense_Mutation_p.R233I NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 433 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GTCAGGCCCTCTTCGAGAGTT 0.607000 62 8 5.19286e-32 9.1646e-32 1 1 0 HBG1 3047 broad.mit.edu 37 11 5269688 5269688 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:5269688C>A ENST00000330597.3 - 3 432 c.345G>T c.(343-345)ttG>ttT p.L115F NM_000559.2 NP_000550.2 P69891 HBG1_HUMAN hemoglobin, gamma A 115 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding large_intestine(1)|lung(3)|skin(1) 5 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATGGATTGCCAAAACGGTCA 0.527000 15 26 9.16793e-09 1.15064e-08 1 1 0 SLC39A14 23516 broad.mit.edu 37 8 22277095 22277095 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:22277095G>A ENST00000381237.1 + 9 1482 c.1363G>A c.(1363-1365)Gat>Aat p.D455N SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000289952.5_Missense_Mutation_p.D455N|SLC39A14_ENST00000359741.5_Missense_Mutation_p.D455N NM_001128431.2 NP_001121903.1 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 455 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) CTGTCAAGAGGATGAAAGGAA 0.468000 34 121 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64521867 64521867 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:64521867C>T ENST00000355086.3 + 21 3291 c.2767C>T c.(2767-2769)Cgg>Tgg p.R923W SRGAP1_ENST00000543397.1_Missense_Mutation_p.R860W|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R900W NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 923 axon guidance cytosol p.R923W(1) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CAACATCAGCCGGCACGACTC 0.612000 12 24 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27493468 27493468 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:27493468C>A ENST00000396271.3 - 12 1592 c.1466G>T c.(1465-1467)tGg>tTg p.W489L ACBD5_ENST00000375901.1_Missense_Mutation_p.W380L|ACBD5_ENST00000375905.4_Missense_Mutation_p.W454L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.W498L|ACBD5_ENST00000375897.3_Missense_Mutation_p.W312L NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 498 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 GAAGGGCCACCAAGATGGTCT 0.368000 11 29 3.07112e-06 3.56816e-06 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66535296 66535296 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:66535296G>T ENST00000273854.3 - 1 765 c.165C>A c.(163-165)gcC>gcA p.A55A EPHA5_ENST00000432638.2_Silent_p.A55A|EPHA5_ENST00000354839.4_Silent_p.A55A|EPHA5_ENST00000511294.1_Silent_p.A55A NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 55 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TGCTGGGGCTGGCCAGGAGGG 0.711000 TSP Lung(17;0.13) 5 9 0.217242 0.218566 1 1 0 HECW1 23072 broad.mit.edu 37 7 43503285 43503285 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:43503285C>A ENST00000395891.1 + 14 3283 c.2678C>A c.(2677-2679)gCa>gAa p.A893E HECW1_ENST00000453890.1_Missense_Mutation_p.A859E NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 893 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CGAACCATTGCAACAGAGAGG 0.498000 11 145 0.000673444 0.000728339 1 1 0 OR1F2P 26184 broad.mit.edu 37 16 3265904 3265904 + RNA SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:3265904G>C ENST00000576468.1 + 0 418 GCTGTCTCATGCAGATGTATT 0.507000 19 33 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951153 119951153 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:119951153C>T ENST00000307142.4 + 4 1419 c.1223C>T c.(1222-1224)aCc>aTc p.T408I SYNPO2_ENST00000429713.2_Missense_Mutation_p.T408I|SYNPO2_ENST00000434046.2_Missense_Mutation_p.T408I|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 408 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGGAAATACACCCTAGTTAGC 0.517000 19 66 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15561443 15561443 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr21:15561443C>A ENST00000344577.2 - 2 432 c.407G>T c.(406-408)cGg>cTg p.R136L LIPI_ENST00000536861.1_Missense_Mutation_p.R115L NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 115 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGTAGCACCCCGGCTCCAGTC 0.388000 83 11 2.14232e-31 3.75412e-31 1 1 0 RASA3 22821 broad.mit.edu 37 13 114839284 114839284 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:114839284C>A ENST00000334062.7 - 2 205 c.84G>T c.(82-84)ccG>ccT p.P28P RASA3_ENST00000389544.4_5'UTR|RASA3_ENST00000542651.1_Silent_p.P28P NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 28 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TGCTCGGCCCCGGGTAAGAGG 0.478000 39 47 5.04308e-16 7.34707e-16 1 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125660551 125660551 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:125660551C>A ENST00000431078.1 + 22 3890 c.3526C>A c.(3526-3528)Ctg>Atg p.L1176M NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1176 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CATAGCACCACTGAAGGCTGC 0.522000 5 3 2.0095e-06 2.34573e-06 1 1 0 CAD 790 broad.mit.edu 37 2 27462666 27462666 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:27462666G>T ENST00000264705.4 + 34 5658 c.5496_splice c.e34+1 p.T1832_splice CAD_ENST00000403525.1_Splice_Site_p.T1769_splice NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1832 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AGATGACCACGGTATCCACAC 0.562000 20 30 1.33834e-09 1.71593e-09 1 1 0 KRTAP12-3 386683 broad.mit.edu 37 21 46078127 46078127 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr21:46078127G>T ENST00000397907.1 + 1 279 c.231G>T c.(229-231)caG>caT p.Q77H TSPEAR_ENST00000323084.4_Intron NM_198697.2 NP_941970.2 P60328 KR123_HUMAN keratin associated protein 12-3 77 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GGTGCTGCCAGCCCCCCTGCA 0.642000 94 9 6.21051e-42 1.13795e-41 1 1 0 ZNF318 24149 broad.mit.edu 37 6 43305930 43305930 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:43305930T>C ENST00000361428.2 - 10 5883 c.5806A>G c.(5806-5808)Aga>Gga p.R1936G ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1936 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TTGAGACTTCTGTACCTAGAA 0.418000 105 94 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237049 29237049 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:29237049G>T ENST00000382535.3 + 2 933 c.564G>T c.(562-564)gcG>gcT p.A188A FOXG1_ENST00000313071.4_Silent_p.A188A P55316 FOXG1_HUMAN forkhead box G1 188 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GCTACAACGCGCTCATCATGA 0.607000 11 34 0.00136819 0.00146269 1 1 0 LPPR4 9890 broad.mit.edu 37 1 99771697 99771697 + Nonsense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:99771697A>T ENST00000370185.3 + 7 1920 c.1423A>T c.(1423-1425)Aga>Tga p.R475* LPPR4_ENST00000457765.1_Nonsense_Mutation_p.R417*|LPPR4_ENST00000370184.1_Nonsense_Mutation_p.R317* NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 475 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GTCACCACCCAGATCCATAGA 0.522000 66 59 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31434493 31434493 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:31434493G>T ENST00000389202.2 + 24 2888 c.2839G>T c.(2839-2841)Gag>Tag p.E947* NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 947 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GAAAATGAAAGAGGCTGAGCA 0.488000 7 16 8.12818e-05 9.07474e-05 1 1 0 PDGFRA 5156 broad.mit.edu 37 4 55133589 55133589 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:55133589A>T ENST00000257290.5 + 6 1224 c.893A>T c.(892-894)gAg>gTg p.E298V FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 298 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GCTACCAGGGAGGTCAAAGAA 0.478000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 17 35 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520781 33520781 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:33520781C>G ENST00000297307.5 - 1 631 c.546G>C c.(544-546)gaG>gaC p.E182D NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 182 integral to membrane CCGTGGTCCCCTCCTGTAGTG 0.582000 12 199 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18863669 18863669 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:18863669C>A ENST00000446231.2 - 32 5296 c.4884G>T c.(4882-4884)agG>agT p.R1628S SMG1_ENST00000389467.3_Missense_Mutation_p.R1628S Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1628 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TTCTGCCCCACCTATAAGCCC 0.423000 31 48 1.7881e-09 2.29062e-09 1 1 0 C2orf71 388939 broad.mit.edu 37 2 29293991 29293991 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:29293991C>A ENST00000331664.5 - 1 3136 c.3137G>T c.(3136-3138)cGg>cTg p.R1046L NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1046 Pro-rich. response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GGAAGTTCGCCGCTTTGTGGT 0.672000 25 32 4.43304e-23 7.19944e-23 1 1 0 CCL16 6360 broad.mit.edu 37 17 34304735 34304735 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:34304735G>T ENST00000293275.3 - 3 305 c.230C>A c.(229-231)aCc>aAc p.T77N NM_004590.2 NP_004581.1 O15467 CCL16_HUMAN chemokine (C-C motif) ligand 16 77 cell-cell signaling|immune response|inflammatory response extracellular space chemoattractant activity|chemokine activity endometrium(1)|lung(2) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATTGGGGTTGGTGCAGACTTC 0.542000 39 47 2.35958e-20 3.68701e-20 1 1 0 OR8J3 81168 broad.mit.edu 37 11 55905149 55905149 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:55905149C>T ENST00000301529.1 - 1 45 c.46G>A c.(46-48)Ggt>Agt p.G16S NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) CTAGAGACACCTGTGAGAATA 0.473000 24 75 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142775241 142775241 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:142775241G>T ENST00000397933.2 + 27 3094 c.1812G>T c.(1810-1812)caG>caT p.Q604H U2SURP_ENST00000473835.2_Missense_Mutation_p.Q1013H|U2SURP_ENST00000493598.2_Missense_Mutation_p.Q1012H O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 1013 CID. RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 CCAGATCCCAGTCCAGATCTC 0.388000 18 12 5.03518e-11 6.65683e-11 1 1 0 CIT 11113 broad.mit.edu 37 12 120152002 120152002 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:120152002C>A ENST00000392521.2 - 33 4361 c.4306_splice c.e33+1 p.E1436_splice CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Splice_Site_p.E1394_splice NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1394 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTGATCTTACCGAGACATTTG 0.468000 8 21 5.18039e-06 5.98605e-06 1 1 0 JMJD1C 221037 broad.mit.edu 37 10 64967479 64967479 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:64967479C>A ENST00000399262.2 - 10 4168 c.3950G>T c.(3949-3951)aGt>aTt p.S1317I JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1098I|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1135I|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1098I NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1317 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TGCTGGCATACTATCAGTTTT 0.433000 65 112 1.7104e-27 2.9114e-27 1 1 0 TRBV11-2 28581 broad.mit.edu 37 7 142197571 142197571 + RNA SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:142197571C>T ENST00000471935.1 - 0 406 TACACTGTGTCTAAGCTGCTG 0.517000 11 166 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394869 164394869 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:164394869G>T ENST00000280605.3 - 1 178 c.18C>A c.(16-18)gcC>gcA p.A6A NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 6 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CGTCGGGCTTGGCGTCGTTGG 0.642000 14 22 4.7546e-09 6.01818e-09 1 1 0 TAB3 257397 broad.mit.edu 37 X 30873435 30873435 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:30873435T>C ENST00000378933.1 - 3 524 c.347A>G c.(346-348)cAg>cGg p.Q116R TAB3_ENST00000288422.2_Missense_Mutation_p.Q116R|TAB3_ENST00000378930.3_Missense_Mutation_p.Q116R|TAB3_ENST00000378932.2_Missense_Mutation_p.Q116R NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 116 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 ACATATCAGCTGTTTACCTGC 0.448000 26 11 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113715048 113715048 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:113715048C>T ENST00000550785.1 + 13 1448 c.1279C>T c.(1279-1281)Cct>Tct p.P427S TPCN1_ENST00000335509.6_Missense_Mutation_p.P355S|TPCN1_ENST00000541517.1_Missense_Mutation_p.P427S|TPCN1_ENST00000392569.4_Missense_Mutation_p.P287S NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 355 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 CCCCCAGAGGCCTGCCGGCAT 0.587000 10 12 0 0 1 0 0 MBIP 51562 broad.mit.edu 37 14 36781180 36781180 + Missense_Mutation SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:36781180T>G ENST00000416007.4 - 5 709 c.622A>C c.(622-624)Aaa>Caa p.K208Q MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000318473.7_Missense_Mutation_p.K208Q|MBIP_ENST00000359527.7_Missense_Mutation_p.K208Q NM_001144891.1|NM_016586.2 NP_001138363.1|NP_057670.2 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 208 Interaction with MAP3K12. histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity breast(2)|large_intestine(1)|lung(5) 8 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) ACGTGACTTTTAAATCCGGGG 0.328000 33 165 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213343 9213343 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:9213343G>T ENST00000305456.2 - 1 639 c.640C>A c.(640-642)Ctc>Atc p.L214I NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 TTATTGATGAGGGTGTCTGAA 0.463000 62 15 5.19286e-32 9.1646e-32 1 1 0 CACNA1H 8912 broad.mit.edu 37 16 1255246 1255246 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:1255246G>T ENST00000348261.5 + 11 2832 c.2584G>T c.(2584-2586)Ggc>Tgc p.G862C CACNA1H_ENST00000565831.1_Missense_Mutation_p.G862C|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G862C NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 862 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CATCTTCGACGGCATCATCGT 0.602000 17 18 1.2644e-06 1.49594e-06 1 1 0 HSPA8 3312 broad.mit.edu 37 11 122929364 122929364 + Nonsense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:122929364T>A ENST00000534624.1 - 7 1774 c.1498A>T c.(1498-1500)Aag>Tag p.K500* HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000534319.1_Nonsense_Mutation_p.K264*|HSPA8_ENST00000533540.1_Nonsense_Mutation_p.K354*|HSPA8_ENST00000532636.1_Nonsense_Mutation_p.K500*|HSPA8_ENST00000227378.3_Nonsense_Mutation_p.K500*|HSPA8_ENST00000526110.1_Nonsense_Mutation_p.K481* NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 500 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ATAGTAATCTTGTTCTCTTTT 0.443000 37 41 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18715811 18715811 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:18715811C>A ENST00000433979.1 + 26 3758 c.3642C>A c.(3640-3642)agC>agA p.S1214R PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1214R|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1255R NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1214 PX. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TAGGGTTCAGCAAGAAATCCA 0.398000 4 3 1 1 1 1 0 NAT2 10 broad.mit.edu 37 8 18258184 18258184 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:18258184C>T ENST00000286479.3 + 2 778 c.671C>T c.(670-672)tCc>tTc p.S224F NAT2_ENST00000520116.1_Missense_Mutation_p.S94F NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 224 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) TCATTTTGTTCCTTGCAGACC 0.373000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 9 92 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116636085 116636085 + Silent SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:116636085A>T ENST00000260210.4 - 3 338 c.315T>A c.(313-315)ctT>ctA p.L105L BUD13_ENST00000375445.3_Silent_p.L105L NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 105 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) CACCTCCCAGAAGCTTCCATT 0.413000 24 35 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61512635 61512635 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:61512635C>A ENST00000266070.4 - 16 4998 c.4673G>T c.(4672-4674)aGg>aTg p.R1558M DIDO1_ENST00000395343.1_Missense_Mutation_p.R1558M NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1558 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CCGGGGGTCCCTGTGGTTTGA 0.697000 34 27 1.22384e-17 1.82409e-17 1 1 0 ZNF112 7665 broad.mit.edu 37 19 44844683 44844683 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:44844683T>A ENST00000354340.4 - 2 60 c.9A>T c.(7-9)acA>acT p.T3T ZNF112_ENST00000337401.4_Silent_p.T9T|CTC-512J12.6_ENST00000588212.1_Silent_p.T8T|ZNF112_ENST00000536500.1_Silent_p.T26T NM_013380.3 NP_037512.3 zinc finger protein 112 CATCCTTGAATGTCACCATCT 0.507000 92 15 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967910 4967910 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:4967910C>G ENST00000380373.2 - 1 446 c.421G>C c.(421-423)Gtc>Ctc p.V141L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GCAACTCTGACAGTTGTCAGG 0.428000 69 121 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78771794 78771794 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:78771794A>C ENST00000286627.5 - 18 2975 c.2023T>G c.(2023-2025)Ttt>Gtt p.F675V KCNMA1_ENST00000404857.1_Missense_Mutation_p.F675V|KCNMA1_ENST00000406533.3_Missense_Mutation_p.F679V|KCNMA1_ENST00000372440.1_Missense_Mutation_p.F675V|KCNMA1_ENST00000286628.8_Missense_Mutation_p.F675V|KCNMA1_ENST00000354353.5_Missense_Mutation_p.F675V|KCNMA1_ENST00000372443.1_Missense_Mutation_p.F675V|KCNMA1_ENST00000404771.3_Missense_Mutation_p.F675V NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 675 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TTGCAGTAAAAAAATGCCCTG 0.433000 35 43 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6577072 6577072 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:6577072G>C ENST00000285599.3 + 1 171 c.135G>C c.(133-135)gtG>gtC p.V45V MAN2B2_ENST00000504248.1_Silent_p.V45V NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 45 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 TCTACACTGTGCAGGTAGGTG 0.721000 4 1 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18681917 18681917 + Missense_Mutation SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:18681917T>G ENST00000308799.4 + 12 2711 c.2492T>G c.(2491-2493)cTg>cGg p.L831R FBXW10_ENST00000301938.4_Missense_Mutation_p.L769R|FBXW10_ENST00000395665.4_Missense_Mutation_p.L822R|FBXW10_ENST00000395667.1_Missense_Mutation_p.L821R Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 822 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GTTAGCGCCCTGCAGCACGCC 0.488000 40 37 0 0 1 0 0 POU3F2 5454 broad.mit.edu 37 6 99283457 99283457 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:99283457C>A ENST00000328345.5 + 1 878 c.708C>A c.(706-708)caC>caA p.H236Q NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 236 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) CGCACCCACACCAGCAgccgc 0.781000 7 14 8.12818e-05 9.07474e-05 1 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701795 56701795 + Nonsense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:56701795T>A ENST00000586855.2 - 5 1202 c.889A>T c.(889-891)Aaa>Taa p.K297* ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.K297* A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 297 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TTGCTTCTTTTGGGACTGCTC 0.517000 145 39 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130381180 130381180 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:130381180G>T ENST00000529410.1 + 12 1238 c.e12-1 L3MBTL3_ENST00000533560.1_Splice_Site|L3MBTL3_ENST00000361794.2_Splice_Site|L3MBTL3_ENST00000526019.1_Splice_Site|L3MBTL3_ENST00000368139.2_Splice_Site|L3MBTL3_ENST00000368136.2_Splice_Site Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TTGCATTTTAGCATCAATCCT 0.353000 9 23 0.0692343 0.0709532 1 1 0 F9 2158 broad.mit.edu 37 X 138643699 138643699 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:138643699G>T ENST00000218099.2 + 8 862 c.855G>T c.(853-855)gaG>gaT p.E285D F9_ENST00000394090.2_Missense_Mutation_p.E247D NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 285 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) ATAATATTGAGGAGACAGAAC 0.348000 30 61 1.13719e-10 1.49018e-10 1 1 0 FAM208B 54906 broad.mit.edu 37 10 5789336 5789336 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:5789336G>T ENST00000328090.5 + 15 4577 c.3952G>T c.(3952-3954)Gat>Tat p.D1318Y NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1318 AGAACTTCAGGATGTAGCTGA 0.453000 38 142 8.73648e-17 1.28794e-16 1 1 0 SYCP2 10388 broad.mit.edu 37 20 58496367 58496367 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:58496367T>A ENST00000357552.3 - 4 391 c.166A>T c.(166-168)Agg>Tgg p.R56W SYCP2_ENST00000371001.2_Missense_Mutation_p.R56W|SYCP2_ENST00000476314.1_5'UTR Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 56 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ATATTTACCCTGCATATAAGG 0.313000 5 28 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95481865 95481865 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:95481865C>A ENST00000356884.6 - 5 1130 c.e5-1 BICD2_ENST00000375512.3_Splice_Site NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CCCGCTCCATCTGCAAAGGCA 0.612000 5 4 0.00116845 0.00125275 1 1 0 ECT2L 345930 broad.mit.edu 37 6 139164323 139164323 + Nonsense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:139164323A>T ENST00000423192.1 + 5 711 c.550A>T c.(550-552)Aag>Tag p.K184* ECT2L_ENST00000541398.1_Nonsense_Mutation_p.K115*|ECT2L_ENST00000367682.2_Nonsense_Mutation_p.K184* Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 184 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 ACAAAGAGAAAAGTGCCTGAG 0.408000 """N, Splice, Mis""" ETP ALL 45 46 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52250122 52250122 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:52250122C>A ENST00000595042.1 - 3 267 c.126G>T c.(124-126)ctG>ctT p.L42L FPR1_ENST00000304748.4_Silent_p.L42L NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 42 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GCCCGTTGCCCAGGACCCCGA 0.532000 64 12 3.57465e-26 6.00896e-26 1 1 0 C5orf58 133874 broad.mit.edu 37 5 169672980 169672980 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:169672980T>A ENST00000521850.1 + 3 1861 c.172T>A c.(172-174)Ttg>Atg p.L58M C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.L58M C9J3I9 CE058_HUMAN chromosome 5 open reading frame 58 58 large_intestine(1)|lung(4)|urinary_tract(1) 6 CTCCCAGTTATTGCTTTGTGA 0.343000 48 22 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125289072 125289072 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:125289072A>G ENST00000304880.2 - 1 500 c.501T>C c.(499-501)tgT>tgC p.C167C NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CCCCAGTCACACAGAAGGACA 0.502000 22 27 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26158044 26158044 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:26158044C>T ENST00000325250.1 + 2 1129 c.942C>T c.(940-942)acC>acT p.T314T NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 314 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AACAGAGAACCCAAGCCAGAG 0.517000 5 2 0 0 1 0 0 HAT1 8520 broad.mit.edu 37 2 172822981 172822981 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:172822981C>T ENST00000264108.4 + 7 699 c.663C>T c.(661-663)taC>taT p.Y221Y SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Silent_p.Y136Y NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 221 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) CCGTAGGCTACATGACAGTCT 0.438000 38 53 0 0 1 0 0 RALY 22913 broad.mit.edu 37 20 32664935 32664935 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:32664935C>T ENST00000375114.3 + 7 1290 c.712C>T c.(712-714)Cgg>Tgg p.R238W RALY_ENST00000246194.3_Missense_Mutation_p.R254W NM_007367.3 NP_031393.2 Q9UKM9 RALY_HUMAN RALY heterogeneous nuclear ribonucleoprotein 254 Epitope (recognized by BKRF1 antibodies).|Poly-Gly. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 tggcagcagcCGGCCACCAGC 0.701000 4 13 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55955634 55955634 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:55955634C>A ENST00000373965.2 - 11 1508 c.1114G>T c.(1114-1116)Ggt>Tgt p.G372C PCDH15_ENST00000373955.1_Missense_Mutation_p.G372C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.G350C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G372C|PCDH15_ENST00000395433.1_Missense_Mutation_p.G350C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G372C|PCDH15_ENST00000395432.2_Missense_Mutation_p.G335C|PCDH15_ENST00000320301.6_Missense_Mutation_p.G372C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G372C|PCDH15_ENST00000395446.1_Missense_Mutation_p.G372C|PCDH15_ENST00000395440.1_Missense_Mutation_p.G372C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G372C|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.G372C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G377C NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 372 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AGAGGATGACCATTGTCTTGT 0.348000 HNSCC(58;0.16) 31 48 7.11191e-15 1.01326e-14 1 1 0 PDXDC2P 283970 broad.mit.edu 37 16 70076259 70076259 + Translation_Start_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:70076259C>A ENST00000325845.7 - 0 327 PDXDC2P_ENST00000531894.1_RNA breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 CCTACCTGCCCTGGAGTGGGC 0.418000 18 32 2.27731e-05 2.58326e-05 1 1 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907682 12907682 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:12907682C>A ENST00000317869.6 - 2 686 c.461G>T c.(460-462)cGa>cTa p.R154L NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TTTGCCCCTTCGTGAGGTGTT 0.502000 37 141 1.57351e-24 2.60965e-24 1 1 0 CRLF1 9244 broad.mit.edu 37 19 18710582 18710582 + Missense_Mutation SNP C C T rs142326326 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:18710582C>T ENST00000392386.3 - 2 383 c.190G>A c.(190-192)Gga>Aga p.G64R NM_004750.4 NP_004741.1 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 64 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity p.G64R(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 GGTGGGTCTCCGTGCACTGAG 0.652000 9 1 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169205970 169205970 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:169205970C>A ENST00000393743.3 - 12 1853 c.e12+1 NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) ACAGAGCTTACCATCAAACTG 0.338000 18 31 9.16793e-09 1.15064e-08 1 1 0 DPH2 1802 broad.mit.edu 37 1 44437843 44437843 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:44437843C>T ENST00000255108.3 + 5 1354 c.1182C>T c.(1180-1182)caC>caT p.H394H DPH2_ENST00000412950.2_Silent_p.H259H|DPH2_ENST00000396758.2_Silent_p.H166H NM_001384.4 NP_001375.2 Q9BQC3 DPH2_HUMAN DPH2 homolog (S. cerevisiae) 394 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CTCCCTTCCACGTGGCTCTCC 0.567000 18 94 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76720889 76720889 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:76720889C>G ENST00000369950.3 - 8 1049 c.860G>C c.(859-861)gGa>gCa p.G287A IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 287 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTACCTAAATCCTAACACATG 0.308000 4 23 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136667180 136667180 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:136667180C>G ENST00000354570.3 - 17 2463 c.2053G>C c.(2053-2055)Gta>Cta p.V685L MAP7_ENST00000544465.1_Missense_Mutation_p.V670L|MAP7_ENST00000454590.1_Missense_Mutation_p.V707L|MAP7_ENST00000438100.2_Missense_Mutation_p.V670L|MAP7_ENST00000432797.2_Missense_Mutation_p.V539L NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 685 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TGAACAGATACACCATTTTCA 0.313000 4 39 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22161179 22161179 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:22161179C>A ENST00000389397.4 + 30 3224 c.362C>A c.(361-363)gCg>gAg p.A121E VWA3A_ENST00000563755.1_Missense_Mutation_p.A121E|VWA3A_ENST00000389398.5_Missense_Mutation_p.A1019E A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1019 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) ACAGATGCAGCGTGTCATGAG 0.572000 41 21 2.45108e-15 3.51235e-15 1 1 0 OR5B2 390190 broad.mit.edu 37 11 58190024 58190024 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:58190024G>C ENST00000302581.2 - 1 762 c.711C>G c.(709-711)tcC>tcG p.S237S NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGGCACAGGTGGACAATGCTT 0.428000 19 29 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3294277 3294277 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:3294277C>A ENST00000219596.1 - 8 1775 c.1736G>T c.(1735-1737)cGt>cTt p.R579L MEFV_ENST00000339854.4_Missense_Mutation_p.R399L|MEFV_ENST00000541159.1_Missense_Mutation_p.R368L|MEFV_ENST00000536379.1_Missense_Mutation_p.R368L NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 579 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.R579H(1) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CATTTCTGAACGCAGGGTTTC 0.532000 11 28 1.11149e-13 1.54796e-13 1 1 0 TNN 63923 broad.mit.edu 37 1 175067680 175067680 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:175067680G>T ENST00000239462.4 + 9 2181 c.2068G>T c.(2068-2070)Gcc>Tcc p.A690S NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 690 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCACGTGTGGGCCCAGAAGGG 0.607000 27 63 6.32553e-13 8.71153e-13 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139149465 139149465 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:139149465G>A ENST00000395297.1 - 19 4110 c.3940C>T c.(3940-3942)Ccc>Tcc p.P1314S NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1314 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CGGTCTTGGGGAGAAGCAACC 0.423000 HNSCC(54;0.14) 30 106 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2450626 2450626 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:2450626C>A ENST00000378466.3 - 7 1003 c.991G>T c.(991-993)Gtg>Ttg p.V331L PANK4_ENST00000435556.3_Missense_Mutation_p.V292L NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 331 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity p.V331M(1) breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CGCATGGTCACGGGGTGGCCC 0.607000 15 31 6.94344e-10 8.97214e-10 1 1 0 OR2T33 391195 broad.mit.edu 37 1 248436326 248436326 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:248436326C>A ENST00000318021.2 - 1 812 c.791G>T c.(790-792)aGg>aTg p.R264M NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GTTAGTGGACCTATGGGATTT 0.483000 85 88 2.36429e-26 3.97887e-26 1 1 0 NLRP11 204801 broad.mit.edu 37 19 56307571 56307571 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:56307571G>A ENST00000443188.1 - 8 2927 c.2217C>T c.(2215-2217)gcC>gcT p.A739A NLRP11_ENST00000592953.1_Silent_p.A640A|NLRP11_ENST00000589093.1_Silent_p.A739A|NLRP11_ENST00000589824.2_Silent_p.A685A|NLRP11_ENST00000360133.3_Silent_p.A685A NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 739 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TGAGGAGAGAGGCGATTTCTT 0.488000 39 114 0 0 1 0 0 LOC101927905 101927905 broad.mit.edu 37 12 8391311 8391311 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:8391311C>A ENST00000304751.9 + 0 585 FAM86FP_ENST00000427893.2_RNA TGACTGACGGCGGGTGCTTCA 0.542000 13 7 4.96729e-08 6.11042e-08 1 1 0 ITGAM 3684 broad.mit.edu 37 16 31332813 31332813 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:31332813A>T ENST00000544665.3 + 16 1941 c.1870A>T c.(1870-1872)Atc>Ttc p.I624F ITGAM_ENST00000287497.8_Missense_Mutation_p.I623F NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 623 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGTCAAGGCAATCATGGAGTT 0.498000 69 183 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54566998 54566998 + Splice_Site SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:54566998C>T ENST00000338372.2 - 1 209 c.34_splice c.e1+1 p.G12_splice VSTM1_ENST00000376626.1_Splice_Site_p.G12_splice|VSTM1_ENST00000425006.2_Splice_Site_p.G12_splice|VSTM1_ENST00000366170.2_5'UTR NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 12 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) GGAGACTCACCGAGGCAAAGC 0.572000 108 28 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75055641 75055641 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:75055641C>A ENST00000326665.5 - 12 2068 c.1850G>T c.(1849-1851)aGg>aTg p.R617M RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.R420M NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 617 Glu-rich. p.R617T(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AGAAGATGACCTTCTGGCACT 0.438000 19 67 1.40151e-16 2.06407e-16 1 1 0 CACNA1A 773 broad.mit.edu 37 19 13409777 13409777 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:13409777C>G ENST00000360228.5 - 19 2669 c.2670G>C c.(2668-2670)gaG>gaC p.E890D CACNA1A_ENST00000573710.2_Missense_Mutation_p.E891D NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 891 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCCGGCTCAGCTCGGCCTCCT 0.751000 4 0 0 0 1 0 0 KCTD13 253980 broad.mit.edu 37 16 29918369 29918369 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:29918369G>T ENST00000568000.1 - 6 1815 c.814C>A c.(814-816)Ccc>Acc p.P272T NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 272 cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 GGGCCCCGGGGAGTCTCGTAG 0.652000 16 35 1.15088e-07 1.39837e-07 1 1 0 NAGK 55577 broad.mit.edu 37 2 71300695 71300695 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:71300695G>T ENST00000418807.3 + 5 561 c.397G>T c.(397-399)Gtc>Ttc p.V133F NAGK_ENST00000455662.2_Missense_Mutation_p.V230F|NAGK_ENST00000244204.5_Missense_Mutation_p.V184F Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase 184 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) TATCGGCTACGTCAAACAGGC 0.517000 85 118 1.42954e-44 2.6356e-44 1 1 0 CCNB1IP1 57820 broad.mit.edu 37 14 20784612 20784612 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:20784612C>A ENST00000398169.3 - 5 687 c.71G>T c.(70-72)tGg>tTg p.W24L CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.W24L|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.W24L|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.W24L|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.W24L|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.W24L Q9NPC3 CIP1_HUMAN cyclin B1 interacting protein 1, E3 ubiquitin protein ligase 24 chromosome|nucleus ligase activity|metal ion binding|protein binding HMGA2/CCNB1IP1(2) breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;8.86e-07)|all cancers(55;4.98e-06) GBM - Glioblastoma multiforme(265;0.0164) GGCAGTGACCCATGCATAGCC 0.473000 T HMGA2 leiomyoma 39 14 3.09479e-21 4.90283e-21 1 1 0 OR51E2 81285 broad.mit.edu 37 11 4703328 4703328 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:4703328A>T ENST00000396950.3 - 2 853 c.614T>A c.(613-615)gTc>gAc p.V205D NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CACGCCCATGACCAGCAGAAT 0.493000 18 48 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161113336 161113336 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:161113336C>A ENST00000523217.1 + 2 381 c.139C>A c.(139-141)Ctg>Atg p.L47M GABRA6_ENST00000274545.5_Missense_Mutation_p.L47M|GABRA6_ENST00000522269.1_3'UTR NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 47 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.L47M(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGACAATCGGCTGCGGCCGGG 0.488000 TCGA Ovarian(5;0.080) 68 20 2.01178e-46 3.72292e-46 1 1 0 INSC 387755 broad.mit.edu 37 11 15134051 15134051 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:15134051C>A ENST00000379554.3 + 1 82 c.36C>A c.(34-36)agC>agA p.S12R NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 12 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 AGGCGGCCAGCGAAGGTCCAG 0.602000 6 27 2.0095e-06 2.34573e-06 1 1 0 SARDH 1757 broad.mit.edu 37 9 136532055 136532055 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:136532055C>A ENST00000371868.1 - 8 1616 c.783G>T c.(781-783)ccG>ccT p.P261P SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000439388.1_Intron|SARDH_ENST00000371872.4_Intron|SARDH_ENST00000422262.2_Intron Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 832 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GCGTCCACAGCGGCCTGGAGG 0.627000 4 4 0.150653 0.152397 1 1 0 SFRP4 6424 broad.mit.edu 37 7 37955912 37955912 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:37955912G>A ENST00000436072.2 - 1 605 c.228C>T c.(226-228)ttC>ttT p.F76F EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 76 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 TGGCACAGAGGAAGAAGCGCA 0.637000 31 43 0 0 1 0 0 CCT7 10574 broad.mit.edu 37 2 73479952 73479952 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:73479952C>G ENST00000539919.1 + 13 1834 c.1463C>G c.(1462-1464)gCa>gGa p.A488G CCT7_ENST00000258091.5_Missense_Mutation_p.A532G|CCT7_ENST00000538797.1_Missense_Mutation_p.A404G|CCT7_ENST00000398422.2_Missense_Mutation_p.A328G|CCT7_ENST00000537131.1_Missense_Mutation_p.A432G|CCT7_ENST00000540468.1_Missense_Mutation_p.A445G NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 532 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 GCTCCCACAGCAGCAGGCCGG 0.637000 6 18 0 0 1 0 0 RXRG 6258 broad.mit.edu 37 1 165380287 165380287 + Missense_Mutation SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:165380287T>G ENST00000359842.5 - 5 984 c.682A>C c.(682-684)Acc>Ccc p.T228P RXRG_ENST00000470566.1_5'UTR NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 228 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TGACCACTGGTAGCACATTCT 0.488000 21 55 0 0 1 0 0 LDOC1 23641 broad.mit.edu 37 X 140271041 140271041 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:140271041T>A ENST00000370526.2 - 1 269 c.166A>T c.(166-168)Acg>Tcg p.T56S LDOC1_ENST00000460721.1_Intron NM_012317.2 NP_036449.1 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 56 negative regulation of cell proliferation nucleus protein binding endometrium(6)|large_intestine(1)|lung(6)|ovary(1) 14 Acute lymphoblastic leukemia(192;7.65e-05) CCATTAAACGTTTCGGGGAAG 0.622000 34 7 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279943 152279943 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:152279943C>A ENST00000368799.1 - 3 7454 c.7419G>T c.(7417-7419)agG>agT p.R2473S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2473 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGGATCCCTGCCTTCCTCCAC 0.582000 Ichthyosis 120 659 1.44263e-45 2.66635e-45 1 1 0 PLEKHG2 64857 broad.mit.edu 37 19 39913963 39913963 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:39913963G>A ENST00000425673.1 + 16 2507 c.2182G>A c.(2182-2184)Gat>Aat p.D728N PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.D757N|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D698N Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 757 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGGATTCCCAGATGAGCTGGC 0.602000 36 40 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11000999 11000999 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:11000999G>T ENST00000324288.8 + 11 1783 c.1650G>T c.(1648-1650)cgG>cgT p.R550R CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 550 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CCCGGCCCCGGGGCCGCCTGG 0.677000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 10 25 1.76689e-08 2.2101e-08 1 1 0 BAI1 575 broad.mit.edu 37 8 143614776 143614776 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:143614776C>A ENST00000517894.1 + 25 4413 c.3519C>A c.(3517-3519)gaC>gaA p.D1173E BAI1_ENST00000323289.5_Missense_Mutation_p.D1173E O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1173 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTGTCTTCGACTCGCTGGAGG 0.677000 9 42 3.09899e-07 3.74398e-07 1 1 0 CALCB 797 broad.mit.edu 37 11 15098835 15098835 + Silent SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:15098835C>G ENST00000523376.1 + 9 1523 c.261C>G c.(259-261)tcC>tcG p.S87S CALCB_ENST00000324229.6_Silent_p.S76S|CALCB_ENST00000533448.1_Silent_p.S76S P10092 CALCB_HUMAN calcitonin-related polypeptide beta 76 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity endometrium(1)|large_intestine(1)|lung(1)|skin(2) 5 AAATCAGCTCCGCTGCCCAGA 0.542000 24 18 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7551110 7551110 + Nonsense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:7551110G>C ENST00000313599.3 - 7 1536 c.1479C>G c.(1477-1479)taC>taG p.Y493* CD163L1_ENST00000416109.2_Nonsense_Mutation_p.Y503*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.Y493* Q9NR16 C163B_HUMAN CD163 molecule-like 1 493 SRCR 5. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.Y493Y(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ACTCTCCTTGGTATTTCACCT 0.473000 57 25 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887996 3887996 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:3887996G>T ENST00000319331.3 + 2 2432 c.1671G>T c.(1669-1671)tcG>tcT p.S557S SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 557 Fibronectin type-III. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TAAAATGGTCGTCTGCCACCA 0.443000 55 132 1.46156e-29 2.52543e-29 1 1 0 OR5K2 402135 broad.mit.edu 37 3 98217159 98217159 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:98217159G>A ENST00000427338.1 + 1 712 c.635G>A c.(634-636)gGt>gAt p.G212D CLDND1_ENST00000502288.1_Intron NM_001004737.1 NP_001004737.1 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, member 2 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TTTACCATAGGTAGTGTCTTA 0.383000 60 99 0 0 1 0 0 KIAA1328 57536 broad.mit.edu 37 18 34647099 34647099 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:34647099G>C ENST00000591619.1 + 7 1597 c.811G>C c.(811-813)Ggg>Cgg p.G271R KIAA1328_ENST00000586501.1_5'UTR|KIAA1328_ENST00000586135.1_5'UTR|KIAA1328_ENST00000543923.1_Missense_Mutation_p.G167R|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000280020.5_Missense_Mutation_p.G275R Q86T90 K1328_HUMAN KIAA1328 275 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) TGAATCTCCAGGGAGAAAACC 0.403000 10 68 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67194970 67194970 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:67194970A>C ENST00000371037.4 + 20 1843 c.1766A>C c.(1765-1767)gAa>gCa p.E589A SGIP1_ENST00000371036.3_Missense_Mutation_p.E391A|SGIP1_ENST00000371035.3_Missense_Mutation_p.E379A|SGIP1_ENST00000371039.1_Missense_Mutation_p.E392A|SGIP1_ENST00000237247.6_Missense_Mutation_p.E620A|SGIP1_ENST00000435165.2_Missense_Mutation_p.E94A NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 589 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 ATTACCGGAGAAATGGTGTTG 0.428000 44 38 0 0 1 0 0 PMS1 5378 broad.mit.edu 37 2 190656638 190656638 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:190656638G>T ENST00000441310.2 + 2 336 c.103G>T c.(103-105)Gct>Tct p.A35S PMS1_ENST00000409985.1_Missense_Mutation_p.A35S|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.A35S|PMS1_ENST00000374826.4_Missense_Mutation_p.A35S|PMS1_ENST00000432292.3_5'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.A35S|PMS1_ENST00000421722.1_3'UTR NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 35 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) CTCCTTGGATGCTGGTGCCAC 0.428000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 12 29 0.000151284 0.000168396 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1270618 1270618 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:1270618C>A ENST00000447027.1 + 31 12575 c.12517C>A c.(12517-12519)Ctg>Atg p.L4173M RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.L4170M Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4170 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TGAGCAGCCCCTGGGCCTCGA 0.682000 15 29 5.45024e-15 7.78007e-15 1 1 0 RASGRF2 5924 broad.mit.edu 37 5 80521582 80521582 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:80521582C>G ENST00000265080.4 + 27 3774 c.3707C>G c.(3706-3708)cCt>cGt p.P1236R CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 1236 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCTCGACTCCCTGCTTGAAGA 0.468000 19 29 0 0 1 0 0 CTC-260F20.3 0 broad.mit.edu 37 19 19637067 19637067 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:19637067C>T ENST00000555938.1 + 2 183 c.171C>T c.(169-171)cgC>cgT p.R57R NDUFA13_ENST00000252576.5_Silent_p.R140R|NDUFA13_ENST00000507754.3_Silent_p.R57R|NDUFA13_ENST00000503283.1_Silent_p.R57R|NDUFA13_ENST00000428459.2_Silent_p.R57R|CTC-260F20.3_ENST00000586674.1_3'UTR ACCGTGAGCGCAGGTAGGGCC 0.612000 3 19 0 0 1 0 0 RPL7 6129 broad.mit.edu 37 8 74203860 74203860 + Nonsense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:74203860G>C ENST00000396467.1 - 5 483 c.345C>G c.(343-345)taC>taG p.Y115* RPL7_ENST00000352983.2_Nonsense_Mutation_p.Y155*|RPL7_ENST00000396465.1_Nonsense_Mutation_p.Y115*|RPL7_ENST00000396466.1_Nonsense_Mutation_p.Y115* NM_000971.3 NP_000962.2 P18124 RL7_HUMAN ribosomal protein L7 155 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome breast(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) AACCACGCTTGTAGATTAGTT 0.368000 29 45 0 0 1 0 0 SSRP1 6749 broad.mit.edu 37 11 57102099 57102099 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:57102099G>C ENST00000278412.2 - 3 344 c.78C>G c.(76-78)agC>agG p.S26R NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 26 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 TGCCCTGACGGCTCAACCTCA 0.517000 33 64 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134225116 134225116 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:134225116C>A ENST00000250160.6 + 2 185 c.79C>A c.(79-81)Cca>Aca p.P27T WISP1_ENST00000220856.6_Missense_Mutation_p.P27T|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Missense_Mutation_p.P27T|WISP1_ENST00000377863.2_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 27 cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) GGCCCTCTCTCCAGCCCCTAC 0.637000 5 17 0.000602214 0.000653205 1 1 0 ZNF496 84838 broad.mit.edu 37 1 247492594 247492594 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:247492594C>A ENST00000294753.4 - 3 751 c.287G>T c.(286-288)cGg>cTg p.R96L ZNF496_ENST00000366498.2_Missense_Mutation_p.R96L NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 96 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CTGGATCTCCCGGGGCAGGAT 0.697000 18 37 2.94398e-08 3.65172e-08 1 1 0 CWC25 54883 broad.mit.edu 37 17 36962607 36962607 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:36962607C>A ENST00000225428.4 - 8 1241 c.944G>T c.(943-945)aGg>aTg p.R315M CWC25_ENST00000536127.1_Missense_Mutation_p.R252M NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 315 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 TGATGGGCTCCTAGTTTGGCC 0.507000 7 14 0.00307968 0.00325723 1 1 0 MCC 4163 broad.mit.edu 37 5 112421001 112421001 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:112421001C>A ENST00000302475.4 - 7 1398 c.835G>T c.(835-837)Gag>Tag p.E279* MCC_ENST00000515367.2_Nonsense_Mutation_p.E216*|MCC_ENST00000408903.3_Nonsense_Mutation_p.E469*|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 279 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity p.E279K(1)|p.E469K(1) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GTTTGAAGCTCTCTGACCTGA 0.532000 53 72 4.80248e-07 5.77386e-07 1 1 0 SCARF1 8578 broad.mit.edu 37 17 1548986 1548986 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:1548986C>A ENST00000263071.4 - 1 55 c.6G>T c.(4-6)ggG>ggT p.G2G SCARF1_ENST00000571272.1_Silent_p.G2G|SCARF1_ENST00000348987.3_Silent_p.G2G NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 2 cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GCAGCCCCAGCCCCATGGCAG 0.682000 5 1 0.014758 0.0152718 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77761296 77761296 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:77761296G>T ENST00000521891.2 + 7 4025 c.3577G>T c.(3577-3579)Gca>Tca p.A1193S ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1167S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1148S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1148S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1148 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTCCTGCTGGCAAAAGAAGA 0.388000 HNSCC(33;0.089) 3 2 0.115264 0.117317 1 1 0 WDR78 79819 broad.mit.edu 37 1 67337072 67337072 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:67337072T>A ENST00000371026.3 - 6 976 c.921A>T c.(919-921)aaA>aaT p.K307N WDR78_ENST00000431318.1_Missense_Mutation_p.K53N|WDR78_ENST00000371023.3_Missense_Mutation_p.K307N|WDR78_ENST00000371022.3_Missense_Mutation_p.K307N NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 307 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CCATTATGATTTTATCACATT 0.308000 19 58 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37953992 37953992 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:37953992C>G ENST00000436072.2 - 2 886 c.509G>C c.(508-510)tGt>tCt p.C170S EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 170 brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 TAGGCGTTTACAGTCAACATC 0.473000 43 51 0 0 1 0 0 CREB3L1 90993 broad.mit.edu 37 11 46341923 46341923 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:46341923G>T ENST00000529193.1 + 11 1818 c.1367G>T c.(1366-1368)gGg>gTg p.G456V CREB3L1_ENST00000288400.3_Missense_Mutation_p.G456V Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 456 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) ATCAACCCCGGGGGGCCGGCA 0.642000 T FUS myxofibrosarcoma 6 4 0.00116845 0.00125275 1 1 0 GALNTL6 442117 broad.mit.edu 37 4 173734726 173734726 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:173734726C>G ENST00000506823.1 + 7 1432 c.775C>G c.(775-777)Ccc>Gcc p.P259A GALNTL6_ENST00000508122.1_Missense_Mutation_p.P242A NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 259 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 CATCGTGTGTCCCATGATCGA 0.438000 13 49 0 0 1 0 0 CTGF 1490 broad.mit.edu 37 6 132270415 132270415 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:132270415C>G ENST00000367976.3 - 5 1239 c.1039G>C c.(1039-1041)Gac>Cac p.D347H NM_001901.2 NP_001892.1 P29279 CTGF_HUMAN connective tissue growth factor 347 Heparin-binding. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 13 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) CATGCCATGTCTCCGTACATC 0.418000 22 54 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3677796 3677796 + Nonsense_Mutation SNP G G C rs145810514 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:3677796G>C ENST00000344754.4 - 9 2315 c.2316C>G c.(2314-2316)taC>taG p.Y772* SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.Y772* NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 772 Ig-like C2-type 7. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TGCGGCAGGCGTAAAGGGCAG 0.632000 9 34 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61544777 61544777 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:61544777G>T ENST00000278836.5 + 12 1728 c.1632G>T c.(1630-1632)ttG>ttT p.L544F MYRF_ENST00000327797.1_Missense_Mutation_p.L169F|MYRF_ENST00000265460.5_Missense_Mutation_p.L535F|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor GCGATGTGTTGTGGCAGCGGG 0.662000 15 32 2.61681e-11 3.4844e-11 1 1 0 HCRTR2 3062 broad.mit.edu 37 6 55142305 55142305 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:55142305G>T ENST00000370862.3 + 5 1226 c.890G>T c.(889-891)cGa>cTa p.R297L NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 297 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAGCAGATCCGAGCCAGAAGG 0.493000 12 40 2.68362e-12 3.64521e-12 1 1 0 KRTAP3-1 83896 broad.mit.edu 37 17 39165300 39165300 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:39165300G>A ENST00000391588.1 - 1 66 c.27C>T c.(25-27)tgC>tgT p.C9C KRTAP3-1_ENST00000581033.1_Intron NM_031958.1 NP_114164.1 Q9BYR8 KRA31_HUMAN keratin associated protein 3-1 9 4 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00043) TGGGGACGCTGCAGGAGCGGA 0.567000 38 44 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61377489 61377489 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:61377489G>T ENST00000544088.1 + 0 124 SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GAGCTGAACAGTAACAACATA 0.438000 8 6 5.18039e-06 5.98605e-06 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144873993 144873993 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:144873993G>A ENST00000369359.4 - 34 5410 c.5372C>T c.(5371-5373)tCt>tTt p.S1791F PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1611F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1655F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1655F|PDE4DIP_ENST00000530740.1_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1655 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGGTTTAGAAGACAACACAGC 0.468000 T PDGFRB MPD 89 405 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106091126 106091126 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:106091126C>A ENST00000390543.2 - 0 670 CTGTGGCTCTCGGGGCTGCCC 0.652000 111 963 4.493e-44 8.27336e-44 1 1 0 MYO7B 4648 broad.mit.edu 37 2 128380917 128380917 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:128380917G>T ENST00000389524.4 + 28 3761 c.3708G>T c.(3706-3708)ctG>ctT p.L1236L MYO7B_ENST00000409090.1_Silent_p.L89L|MYO7B_ENST00000409816.2_Silent_p.L1236L|MYO7B_ENST00000428314.1_Silent_p.L1236L Q6PIF6 MYO7B_HUMAN myosin VIIB 1236 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCGACCACCTGGGCTTCTCCC 0.642000 11 2 4.68919e-08 5.78268e-08 1 1 0 ZSCAN10 84891 broad.mit.edu 37 16 3142081 3142081 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:3142081G>T ENST00000252463.2 - 2 555 c.468C>A c.(466-468)ccC>ccA p.P156P ZSCAN10_ENST00000538082.2_Intron|ZSCAN10_ENST00000572548.1_Intron|ZSCAN10_ENST00000575108.1_5'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 156 Pro-rich. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 ATGTCTTCTGGGGCCCCGGGC 0.672000 17 16 1.67942e-08 2.10245e-08 1 1 0 OR2A25 392138 broad.mit.edu 37 7 143771333 143771333 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:143771333C>A ENST00000408898.2 + 1 59 c.21C>A c.(19-21)tcC>tcA p.S7S NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) ATCAGACTTCCATCACAGAGT 0.458000 40 64 2.40579e-17 3.57859e-17 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20487838 20487838 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:20487838C>A ENST00000504154.1 + 7 807 c.555C>A c.(553-555)aaC>aaA p.N185K SLIT2_ENST00000273739.5_Missense_Mutation_p.N185K|SLIT2_ENST00000503837.1_Missense_Mutation_p.N185K|SLIT2_ENST00000503823.1_Missense_Mutation_p.N185K NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 185 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TCAACAATAACAACATTACTA 0.264000 4 33 0.00909568 0.00946511 1 1 0 WDFY2 115825 broad.mit.edu 37 13 52330482 52330482 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:52330482G>T ENST00000298125.5 + 10 1128 c.948G>T c.(946-948)aaG>aaT p.K316N NM_052950.3 NP_443182.1 Q96P53 WDFY2_HUMAN WD repeat and FYVE domain containing 2 316 metal ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191) GBM - Glioblastoma multiforme(99;9e-08) ACTGCCGCAAGTGTGGGAAGG 0.607000 42 19 3.38236e-24 5.57226e-24 1 1 0 TBR1 10716 broad.mit.edu 37 2 162273332 162273332 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:162273332C>T ENST00000389554.3 + 1 728 c.411C>T c.(409-411)ttC>ttT p.F137F NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 137 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 ACCCCGCCTTCTCCATCGGCA 0.667000 59 94 0 0 1 0 0 IMPAD1 54928 broad.mit.edu 37 8 57905802 57905802 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:57905802G>A ENST00000262644.4 - 1 601 c.343C>T c.(343-345)Cgc>Tgc p.R115C NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 115 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) AACATCTTGCGGTTGGACAGC 0.682000 4 12 0 0 1 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722883 64722883 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:64722883G>T ENST00000338957.4 + 5 2372 c.2305G>T c.(2305-2307)Gag>Tag p.E769* ZC3H12B_ENST00000423889.3_Nonsense_Mutation_p.E758* NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 758 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGAAAAGATGGAGCAGCTTTG 0.478000 16 5 3.45872e-05 3.91444e-05 1 1 0 AMFR 267 broad.mit.edu 37 16 56423147 56423147 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:56423147G>C ENST00000290649.5 - 9 1436 c.1226C>G c.(1225-1227)gCc>gGc p.A409G NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 409 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 TCTCCCTTCGGCTGCTGCTAC 0.438000 24 19 0 0 1 0 0 OR51B6 390058 broad.mit.edu 37 11 5373323 5373323 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:5373323T>C ENST00000380219.1 + 1 586 c.586T>C c.(586-588)Tat>Cat p.Y196H HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAACCGTCTCTATCCAGTTGT 0.438000 41 53 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71004105 71004105 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:71004105A>G ENST00000357250.6 - 5 619 c.461T>C c.(460-462)gTa>gCa p.V154A COL9A1_ENST00000370496.3_Missense_Mutation_p.V154A NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 154 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GTATGAAAATACAACAGATTG 0.433000 46 77 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94291554 94291554 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:94291554C>A ENST00000265986.6 - 4 668 c.612G>T c.(610-612)ttG>ttT p.L204F NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 204 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TAGCTTTTTCCAATTGAAAGA 0.438000 40 7 3.61848e-18 5.47562e-18 1 1 0 KLHL6 89857 broad.mit.edu 37 3 183211929 183211929 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:183211929C>T ENST00000341319.3 - 5 1323 c.1288G>A c.(1288-1290)Gac>Aac p.D430N NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 430 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) TGTAAGCCGTCAAAGCCTCCG 0.463000 60 95 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61607738 61607738 + Silent SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:61607738A>T ENST00000583023.1 + 4 521 c.510A>T c.(508-510)acA>acT p.T170T KCNH6_ENST00000314672.5_Silent_p.T170T|KCNH6_ENST00000456941.2_Silent_p.T170T|KCNH6_ENST00000581784.1_Silent_p.T170T|KCNH6_ENST00000580652.1_Silent_p.T170T NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 170 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GGCCAGGCACAGGCAGGGGCA 0.637000 36 97 0 0 1 0 0 SF3B5 83443 broad.mit.edu 37 6 144416466 144416466 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:144416466C>A ENST00000367569.2 - 1 288 c.169G>T c.(169-171)Gag>Tag p.E57* NM_031287.2 NP_112577.1 Q9BWJ5 SF3B5_HUMAN splicing factor 3b, subunit 5, 10kDa 57 nuclear mRNA splicing, via spliceosome nucleoplasm|U12-type spliceosomal complex lung(2)|prostate(1) 3 OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638) CTCTCATTCTCCGCAATGGCG 0.572000 43 38 6.5261e-18 9.80565e-18 1 1 0 PCLO 27445 broad.mit.edu 37 7 82545774 82545774 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:82545774C>A ENST00000423517.2 - 7 11865 c.11528G>T c.(11527-11529)aGa>aTa p.R3843I PCLO_ENST00000437081.1_Missense_Mutation_p.R563I|PCLO_ENST00000333891.8_Missense_Mutation_p.R3843I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3774 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCGGGTTGGTCTTGTGCTACT 0.473000 92 22 1.52223e-32 2.6929e-32 1 1 0 PKP1 5317 broad.mit.edu 37 1 201286764 201286764 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:201286764A>T ENST00000263946.3 + 5 1162 c.911A>T c.(910-912)cAg>cTg p.Q304L PKP1_ENST00000367324.3_Missense_Mutation_p.Q304L|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000352845.3_Missense_Mutation_p.Q304L NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 304 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 CAGAACGTCCAGCAGGCCGCG 0.647000 11 12 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606479 55606479 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:55606479G>T ENST00000378396.1 + 1 252 c.252G>T c.(250-252)ctG>ctT p.L84L NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) CCATGATGCTGGTGAACCTGG 0.383000 67 131 9.39563e-20 1.4574e-19 1 1 0 COL22A1 169044 broad.mit.edu 37 8 139705901 139705901 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:139705901T>A ENST00000303045.6 - 35 3188 c.2742A>T c.(2740-2742)gcA>gcT p.A914A COL22A1_ENST00000435777.1_Silent_p.A914A|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 914 Collagen-like 7.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 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) GGTTTCCAGCTGCTCCAGGAG 0.627000 HNSCC(7;0.00092) 6 7 0 0 1 0 0 RAB28 9364 broad.mit.edu 37 4 13475983 13475983 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:13475983T>C ENST00000288723.4 - 3 434 c.220A>G c.(220-222)Ata>Gta p.I74V RAB28_ENST00000330852.5_Missense_Mutation_p.I74V|RAB28_ENST00000338176.4_Missense_Mutation_p.I74V NM_004249.3 NP_004240.2 P51157 RAB28_HUMAN RAB28, member RAS oncogene family 74 small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 8 TTGCCTCCTATTGTCTGCCCT 0.303000 36 89 0 0 1 0 0 CD79B 974 broad.mit.edu 37 17 62006812 62006812 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:62006812C>A ENST00000006750.3 - 5 665 c.573G>T c.(571-573)gaG>gaT p.E191D CD79B_ENST00000392795.3_Missense_Mutation_p.E192D|CD79B_ENST00000349817.2_Missense_Mutation_p.E87D NM_000626.2|NM_021602.2 NP_000617.1|NP_067613.1 P40259 CD79B_HUMAN CD79b molecule, immunoglobulin-associated beta 191 ITAM. cell surface receptor linked signaling pathway|immune response Golgi apparatus|integral to plasma membrane|nucleus transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 15 TGTGATCTTCCTCCATGCCAG 0.642000 """Mis, O""" DLBCL 20 51 5.03518e-11 6.65683e-11 1 1 0 PSMD1 5707 broad.mit.edu 37 2 231948445 231948445 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:231948445G>A ENST00000308696.6 + 14 1852 c.1690G>A c.(1690-1692)Gat>Aat p.D564N PSMD1_ENST00000373635.4_Missense_Mutation_p.D564N|PSMD1_ENST00000409643.1_Missense_Mutation_p.D564N NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 564 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GGAAGAGGCTGATGCTCTCAT 0.438000 23 30 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108696735 108696735 + Splice_Site SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:108696735T>C ENST00000218006.2 - 4 1677 c.1387_splice c.e4+1 p.G462_splice NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 462 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 ATTCCTTACCTCCATGGCAGA 0.468000 11 3 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101828713 101828713 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:101828713A>T ENST00000251127.6 - 15 1858 c.1777T>A c.(1777-1779)Ttg>Atg p.L593M NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 593 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCAACAAACAAACTCAGGAGG 0.294000 16 30 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64606679 64606679 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:64606679C>T ENST00000342711.5 - 7 701 c.702G>A c.(700-702)acG>acA p.T234T NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 234 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 TATAGTCCGGCGTCCCTACTG 0.622000 18 47 0 0 1 0 0 LRRC28 123355 broad.mit.edu 37 15 99901706 99901706 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:99901706C>T ENST00000301981.3 + 8 1101 c.861C>T c.(859-861)agC>agT p.S287S LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Silent_p.S218S|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000447360.2_Silent_p.S287S|LRRC28_ENST00000442993.2_3'UTR NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 287 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) CCTACCACAGCTTGCTGAAAG 0.463000 OREG0023509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 49 0 0 1 0 0 ENPP5 59084 broad.mit.edu 37 6 46135475 46135475 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:46135475C>A ENST00000371383.2 - 3 785 c.525G>T c.(523-525)acG>acT p.T175T ENPP5_ENST00000230565.3_Silent_p.T175T Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 175 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 GCTCTTTTGACGTAAACCATT 0.418000 64 49 3.7469e-33 6.6522e-33 1 1 0 SPOCK3 50859 broad.mit.edu 37 4 167658667 167658667 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:167658667T>A ENST00000357154.3 - 11 1229 c.1092A>T c.(1090-1092)agA>agT p.R364S SPOCK3_ENST00000535728.1_Missense_Mutation_p.R232S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R364S|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R268S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R321S|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R361S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R361S|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R313S|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R364S|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R266S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R364S|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R266S|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R361S|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R244S NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 364 Thyroglobulin type-1. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) CATTTCCATATCTGTCAACAC 0.403000 71 133 0 0 1 0 0 CECR6 27439 broad.mit.edu 37 22 17600658 17600658 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:17600658C>T ENST00000331437.3 - 1 1485 c.1360G>A c.(1360-1362)Gca>Aca p.A454T CECR6_ENST00000399875.1_Missense_Mutation_p.A99T NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 454 Poly-Ala. haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) CCCCAGGATGCAGCCGCTGCG 0.726000 2 0 0 0 1 0 0 ADTRP 84830 broad.mit.edu 37 6 11714727 11714727 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:11714727C>G ENST00000414691.3 - 6 1087 c.677G>C c.(676-678)cGg>cCg p.R226P ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000229583.5_Missense_Mutation_p.R244P NM_032744.3 NP_116133.1 Q96IZ2 CF105_HUMAN androgen-dependent TFPI-regulating protein 226 integral to membrane CCTCTTCTTCCGTGGCTGCCT 0.413000 6 91 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44150783 44150783 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:44150783T>C ENST00000223357.3 + 14 1966 c.1661T>C c.(1660-1662)gTg>gCg p.V554A AEBP1_ENST00000450684.2_Missense_Mutation_p.V129A NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 554 Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 CAGAATGAGGTGGTGGCCACC 0.617000 23 29 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165956928 165956928 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:165956928A>G ENST00000360093.3 - 22 4341 c.3850T>C c.(3850-3852)Ttg>Ctg p.L1284L SCN3A_ENST00000409101.3_Silent_p.L1235L|SCN3A_ENST00000283254.7_Silent_p.L1284L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1284 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AGGCTAACCAAAGAAACCTAC 0.383000 20 26 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167728935 167728935 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:167728935A>T ENST00000230256.3 + 8 1544 c.1369A>T c.(1369-1371)Atg>Ttg p.M457L UNC93A_ENST00000366829.2_Missense_Mutation_p.M415L NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 457 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ACAAACAAAAATGTGAGAGCA 0.522000 18 100 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154544390 154544390 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:154544390G>C ENST00000368476.3 + 5 1355 c.1091G>C c.(1090-1092)cGg>cCg p.R364P NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 364 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.R364L(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CTGCGCCTGCGGCGACGCCAG 0.697000 5 11 0 0 1 0 0 POU2AF1 5450 broad.mit.edu 37 11 111225079 111225079 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:111225079G>A ENST00000393067.3 - 5 1192 c.678C>T c.(676-678)gcC>gcT p.A226A NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 226 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) ACGAGCTGGCGGCTCTTCTGG 0.592000 T BCL6 NHL 7 41 0 0 1 0 0 TAS2R10 50839 broad.mit.edu 37 12 10978769 10978769 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:10978769C>A ENST00000240619.2 - 1 188 c.100G>T c.(100-102)Gac>Tac p.D34Y NM_023921.1 NP_076410.1 Q9NYW0 T2R10_HUMAN taste receptor, type 2, member 10 34 sensory perception of taste integral to membrane taste receptor activity breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TTGGCACAGTCAATGCAGTTT 0.358000 38 13 1.42033e-22 2.29165e-22 1 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140753885 140753885 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140753885C>A ENST00000517434.1 + 1 235 c.235C>A c.(235-237)Ccg>Acg p.P79T PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCTGAATCCGCGAAACGG 0.587000 59 12 3.76628e-20 5.86656e-20 1 1 0 ZNF285 26974 broad.mit.edu 37 19 44892226 44892226 + Nonsense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:44892226T>A ENST00000330997.4 - 4 245 c.181A>T c.(181-183)Aag>Tag p.K61* ZNF285_ENST00000591679.1_Nonsense_Mutation_p.K68*|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.K61* NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CTTAACCCCTTTGCCTGAAGA 0.408000 106 22 0 0 1 0 0 ECM2 1842 broad.mit.edu 37 9 95267882 95267882 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:95267882A>T ENST00000344604.5 - 7 1546 c.1397T>A c.(1396-1398)cTa>cAa p.L466Q CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.L444Q NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 466 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 CAAGTAGGCTAGGCTCTTCAA 0.338000 19 73 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109810405 109810405 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:109810405G>C ENST00000399132.1 - 18 1477 c.947C>G c.(946-948)cCt>cGt p.P316R COL25A1_ENST00000399127.1_Missense_Mutation_p.P312R|COL25A1_ENST00000399126.1_Missense_Mutation_p.P316R NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 316 Collagen-like 4. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) AGATTCCCCAGGTTCTCCCTG 0.423000 36 56 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70613232 70613232 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:70613232A>C ENST00000449580.1 + 21 3181 c.3130A>C c.(3130-3132)Atg>Ctg p.M1044L TAF1_ENST00000423759.1_Missense_Mutation_p.M1065L|TAF1_ENST00000276072.3_Missense_Mutation_p.M1065L|TAF1_ENST00000373790.4_Missense_Mutation_p.M1044L P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1044 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) AGAGGGGCCCATGAGTAAATT 0.483000 19 10 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32525452 32525452 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr21:32525452C>A ENST00000286827.3 - 19 3643 c.3171_splice c.e19-1 p.D1058_splice TIAM1_ENST00000541036.1_Splice_Site_p.D998_splice NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1058 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CAGTTTAAATCCTAAGAATTG 0.318000 86 16 7.31121e-38 1.3185e-37 1 1 0 LMBRD2 92255 broad.mit.edu 37 5 36117897 36117897 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:36117897T>A ENST00000296603.4 - 10 1704 c.1242A>T c.(1240-1242)ttA>ttT p.L414F NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 414 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAAAGAGGGATAAGACAGGAG 0.383000 23 35 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152651238 152651238 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:152651238C>A ENST00000367255.5 - 78 15183 c.14582G>T c.(14581-14583)tGg>tTg p.W4861L SYNE1_ENST00000265368.4_Missense_Mutation_p.W4861L|SYNE1_ENST00000448038.1_Missense_Mutation_p.W4790L|SYNE1_ENST00000341594.5_Missense_Mutation_p.W4608L|SYNE1_ENST00000423061.1_Missense_Mutation_p.W4790L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4861 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCCCCTTGCCAGGACTGGAT 0.483000 HNSCC(10;0.0054) 30 31 3.99451e-17 5.91219e-17 1 1 0 MXRA5 25878 broad.mit.edu 37 X 3235647 3235647 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:3235647G>A ENST00000217939.6 - 6 6229 c.6075C>T c.(6073-6075)tgC>tgT p.C2025C NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2025 Ig-like C2-type 4. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGCTGGCCACGCACTTATAGA 0.637000 5 5 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103354445 103354445 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:103354445G>T ENST00000358392.2 - 60 4848 c.4531C>A c.(4531-4533)Cca>Aca p.P1511T COL11A1_ENST00000353414.4_Missense_Mutation_p.P1460T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1499T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1383T NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1499 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGACCAGGTGGACCTAAGGGA 0.383000 8 74 0.00448238 0.00471729 1 1 0 UBR1 197131 broad.mit.edu 37 15 43250218 43250218 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:43250218G>A ENST00000290650.4 - 44 4906 c.4828C>T c.(4828-4830)Cat>Tat p.H1610Y UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 1610 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TACCTGAAATGAGAAGCTTGA 0.328000 39 16 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6913762 6913762 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:6913762G>A ENST00000312053.4 + 11 1258 c.1221G>A c.(1219-1221)gaG>gaA p.E407E EMR1_ENST00000381404.4_Silent_p.E355E|EMR1_ENST00000450315.3_Silent_p.E230E|EMR1_ENST00000381407.5_Silent_p.E266E|EMR1_ENST00000250572.8_Silent_p.E407E NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 407 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TCTTCCTGGAGAGTGTGGAAA 0.483000 10 124 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21207838 21207838 + Missense_Mutation SNP G G A rs139594289 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:21207838G>A ENST00000342679.4 + 8 918 c.669G>A c.(667-669)atG>atA p.M223I MAP2K3_ENST00000361818.5_Missense_Mutation_p.M194I|MAP2K3_ENST00000316920.6_Missense_Mutation_p.M194I NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 223 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CCAAGACGATGGATGCCGGCT 0.597000 5 39 0 0 1 0 0 VCX 26609 broad.mit.edu 37 X 7811724 7811724 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:7811724C>A ENST00000381059.3 + 3 507 c.288C>A c.(286-288)agC>agA p.S96R VCX_ENST00000341408.4_Missense_Mutation_p.S96R NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked 96 Glu-rich. chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) AGCCAGTGAGCGAGGGGACCC 0.701000 32 24 3.62531e-18 5.48037e-18 1 1 0 TSC22D2 9819 broad.mit.edu 37 3 150129010 150129010 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:150129010G>T ENST00000361875.2 + 1 2889 c.1873G>T c.(1873-1875)Gca>Tca p.A625S TSC22D2_ENST00000361136.2_Missense_Mutation_p.A625S NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 625 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) AGATTCCCTGGCAAACCCCCT 0.458000 37 50 4.62619e-21 7.30554e-21 1 1 0 UGT1A8 54576 broad.mit.edu 37 2 234527121 234527121 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:234527121C>A ENST00000373450.4 + 1 831 c.768C>A c.(766-768)gaC>gaA p.D256E NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TGCGAACAGACTTTGTTTTGG 0.433000 158 292 1.07764e-48 2.00925e-48 1 1 0 PGBD1 84547 broad.mit.edu 37 6 28269905 28269905 + Nonsense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:28269905G>A ENST00000405948.2 + 7 2694 c.2274G>A c.(2272-2274)tgG>tgA p.W758* PGBD1_ENST00000259883.3_Nonsense_Mutation_p.W758* NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 758 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 GCAAGAAATGGTACTCAATTT 0.403000 109 13 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81372385 81372385 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:81372385C>A ENST00000555265.1 - 5 650 c.275G>T c.(274-276)aGt>aTt p.S92I CEP128_ENST00000327841.2_Missense_Mutation_p.S32I|CEP128_ENST00000216517.6_Missense_Mutation_p.S92I|CEP128_ENST00000281129.3_Missense_Mutation_p.S92I Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 92 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TAAACGTTGACTCCGGAGTTG 0.363000 35 7 4.65686e-17 6.88567e-17 1 1 0 WBSCR17 64409 broad.mit.edu 37 7 70800712 70800712 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:70800712C>A ENST00000333538.5 + 2 1049 c.415C>A c.(415-417)Ccc>Acc p.P139T WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 139 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGATTATCGTCCCACCAAGTA 0.448000 19 16 1.67942e-08 2.10245e-08 1 1 0 PTPN13 5783 broad.mit.edu 37 4 87680213 87680213 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:87680213A>T ENST00000436978.1 + 23 4020 c.3540A>T c.(3538-3540)gaA>gaT p.E1180D PTPN13_ENST00000316707.6_Missense_Mutation_p.E989D|PTPN13_ENST00000411767.2_Missense_Mutation_p.E1180D|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1161D|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1180D NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1180 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AGCCAAAAGAAAAGATATCCA 0.368000 9 24 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569754 61569754 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:61569754C>A ENST00000457692.1 + 8 1128 c.795C>A c.(793-795)ttC>ttA p.F265L SERPINB2_ENST00000299502.4_Missense_Mutation_p.F265L|SERPINB2_ENST00000482254.1_3'UTR NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 265 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TTAGCATGTTCTTGTTGCTTC 0.418000 38 32 4.14481e-20 6.44941e-20 1 1 0 PGBD5 79605 broad.mit.edu 37 1 230472903 230472903 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:230472903C>A ENST00000321327.2 - 6 1115 c.1116G>T c.(1114-1116)acG>acT p.T372T PGBD5_ENST00000391860.1_Silent_p.T227T|PGBD5_ENST00000525115.1_Silent_p.T273T Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 273 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) TGCTGGGCCCCGTGAAAATGA 0.582000 11 37 2.80697e-09 3.56815e-09 1 1 0 PABPC5 140886 broad.mit.edu 37 X 90690697 90690697 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:90690697G>T ENST00000312600.3 + 2 335 c.121G>T c.(121-123)Gct>Tct p.A41S PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 41 RRM 1. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 GTTCAGGCCTGCTGGCCCTCT 0.567000 26 3 4.26978e-12 5.77333e-12 1 1 0 NDUFA12 55967 broad.mit.edu 37 12 95365305 95365305 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:95365305C>A ENST00000327772.2 - 4 438 c.349G>T c.(349-351)Gtg>Ttg p.V117L NDUFA12_ENST00000547157.1_Intron|NDUFA12_ENST00000547986.1_3'UTR|NDUFA12_ENST00000550187.1_5'UTR NM_018838.4 NP_061326.1 Q9UI09 NDUAC_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 117 respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity endometrium(1)|large_intestine(2)|lung(3) 6 NADH(DB00157) GTGCCAGTCACGTTGAATTTA 0.413000 34 45 6.00712e-18 9.04416e-18 1 1 0 ZNF484 83744 broad.mit.edu 37 9 95610478 95610478 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:95610478T>A ENST00000395505.2 - 3 575 c.483A>T c.(481-483)gcA>gcT p.A161A ZNF484_ENST00000332591.6_Silent_p.A161A|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Silent_p.A199A|ZNF484_ENST00000375495.3_Silent_p.A197A NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 AATTTTCTGTTGCATTGTTTC 0.358000 46 55 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168108117 168108117 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:168108117G>T ENST00000409195.1 + 9 10304 c.10215G>T c.(10213-10215)caG>caT p.Q3405H XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q3183H|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q3405H|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3230 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTGTTAAGCAGCCCAGGATCT 0.403000 54 84 3.10996e-30 5.41782e-30 1 1 0 ARHGAP30 257106 broad.mit.edu 37 1 161022311 161022311 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:161022311T>A ENST00000368013.3 - 8 1179 c.859A>T c.(859-861)Agg>Tgg p.R287W ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R287W|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R110W NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 287 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CTCCACTTCCTGACCTTCAAA 0.552000 89 154 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60637184 60637184 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:60637184C>A ENST00000278853.5 + 3 493 c.493C>A c.(493-495)Ctc>Atc p.L165I NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 165 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CCTTTCCTTCCTCCCCACCTC 0.607000 16 17 3.52763e-06 4.08897e-06 1 1 0 DST 667 broad.mit.edu 37 6 56510683 56510683 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:56510683G>A ENST00000370754.5 - 14 1659 c.1660C>T c.(1660-1662)Ctt>Ttt p.L554F DST_ENST00000421834.2_Missense_Mutation_p.L376F|DST_ENST00000370769.4_Missense_Mutation_p.L376F|DST_ENST00000370788.2_Missense_Mutation_p.L376F|DST_ENST00000361203.3_Missense_Mutation_p.L376F|DST_ENST00000312431.6_Missense_Mutation_p.L376F Q03001 DYST_HUMAN dystonin 376 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTGGACGAAGGGCCTTCTCT 0.443000 32 67 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95596458 95596458 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:95596458G>A ENST00000526495.1 - 7 801 c.510C>T c.(508-510)aaC>aaT p.N170N DICER1_ENST00000541352.1_Silent_p.N170N|DICER1_ENST00000527414.1_Silent_p.N170N|DICER1_ENST00000343455.3_Silent_p.N170N|DICER1_ENST00000393063.1_Silent_p.N170N Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 170 Helicase ATP-binding. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) ACACCAAAAGGTTAATGTCTG 0.338000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 7 35 0 0 1 0 0 SCRN1 9805 broad.mit.edu 37 7 29983640 29983640 + Nonsense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:29983640C>T ENST00000426154.1 - 4 673 c.497G>A c.(496-498)tGg>tAg p.W166* SCRN1_ENST00000416113.2_Nonsense_Mutation_p.W57*|SCRN1_ENST00000242059.5_Nonsense_Mutation_p.W166*|SCRN1_ENST00000409497.1_Nonsense_Mutation_p.W166* NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 166 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 CTCGAGCACCCAGGCTTCATC 0.502000 60 85 0 0 1 0 0 ACTL6A 86 broad.mit.edu 37 3 179287990 179287990 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:179287990G>A ENST00000429709.2 + 3 451 c.238G>A c.(238-240)Gag>Aag p.E80K ACTL6A_ENST00000450518.2_Missense_Mutation_p.E38K|ACTL6A_ENST00000392662.1_Missense_Mutation_p.E38K NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 80 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) TGTTCCGAGGGAGAATATGGA 0.408000 43 44 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179604989 179604989 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:179604989C>A ENST00000444136.1 + 9 1737 c.1487C>A c.(1486-1488)tCa>tAa p.S496* TDRD5_ENST00000367614.1_Nonsense_Mutation_p.S496*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.S496* NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 496 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 AGGGATTCGTCAGAGTTACTC 0.413000 32 50 8.16721e-17 1.20641e-16 1 1 0 A4GNT 51146 broad.mit.edu 37 3 137849718 137849718 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:137849718G>T ENST00000236709.3 - 2 582 c.381C>A c.(379-381)gaC>gaA p.D127E NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 127 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 ACAATGGTGTGTCTTCAAGCA 0.418000 25 49 9.90768e-06 1.13602e-05 1 1 0 NDST4 64579 broad.mit.edu 37 4 115997890 115997890 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:115997890G>T ENST00000264363.2 - 2 981 c.303C>A c.(301-303)tcC>tcA p.S101S NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 101 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GAAATCGGCTGGACTCCAAAA 0.408000 9 72 1.12685e-05 1.29006e-05 1 1 0 TTN 7273 broad.mit.edu 37 2 179575951 179575951 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:179575951C>A ENST00000589042.1 - 97 28236 c.28012G>T c.(28012-28014)Ggc>Tgc p.G9338C TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8094C|TTN_ENST00000591111.1_Missense_Mutation_p.G9021C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9021 Ig-like 76. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATGGCTTGCCGTCTTTATAC 0.413000 73 120 5.02462e-34 8.94202e-34 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105413676 105413676 + Missense_Mutation SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:105413676T>G ENST00000333244.5 - 7 8231 c.8112A>C c.(8110-8112)caA>caC p.Q2704H AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2704 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGACCTCCAGTTGGGCAGAGG 0.617000 82 357 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69058478 69058478 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:69058478G>T ENST00000288368.4 + 34 4399 c.4122G>T c.(4120-4122)cgG>cgT p.R1374R NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1374 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AAGGAAGTCGGCAAGCTCTGA 0.323000 16 41 2.48551e-13 3.44539e-13 1 1 0 ITGA2B 3674 broad.mit.edu 37 17 42455868 42455868 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:42455868G>A ENST00000262407.5 - 20 1987 c.1956C>T c.(1954-1956)tcC>tcT p.S652S ITGA2B_ENST00000353281.4_Silent_p.S652S NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 652 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CTAGGAGCGGGGAGCCCGTCC 0.627000 6 13 0 0 1 0 0 CELF4 56853 broad.mit.edu 37 18 34839128 34839128 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:34839128G>T ENST00000588597.1 - 11 1322 c.1313C>A c.(1312-1314)tCg>tAg p.S438* CELF4_ENST00000412753.1_Intron|CELF4_ENST00000361795.5_Intron|CELF4_ENST00000591287.1_Intron|CELF4_ENST00000420428.2_Intron|CELF4_ENST00000591282.1_Intron|CELF4_ENST00000601019.1_Intron|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000603232.1_Intron Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 83 RRM 3. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 AAACACTTTCGAGGAGATGAC 0.522000 16 22 3.52763e-06 4.08897e-06 1 1 0 STIL 6491 broad.mit.edu 37 1 47746795 47746795 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:47746795C>G ENST00000360380.3 - 13 1698 c.1335G>C c.(1333-1335)ttG>ttC p.L445F STIL_ENST00000371877.3_Missense_Mutation_p.L445F|STIL_ENST00000337817.5_Missense_Mutation_p.L445F|STIL_ENST00000243182.6_Missense_Mutation_p.L445F|STIL_ENST00000396221.2_Missense_Mutation_p.L445F Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 445 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TCACCATTTCCAATGGAGTAG 0.388000 12 97 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539562 56539562 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:56539562T>C ENST00000390649.3 + 7 1963 c.1963T>C c.(1963-1965)Tgt>Cgt p.C655R NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 655 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCTGCTGGGCTGTCCCGTTCC 0.582000 70 16 0 0 1 0 0 PKN2 5586 broad.mit.edu 37 1 89273112 89273112 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:89273112A>G ENST00000370521.3 + 13 2279 c.1920A>G c.(1918-1920)gaA>gaG p.E640E PKN2_ENST00000370505.3_Silent_p.E483E|PKN2_ENST00000370513.5_Silent_p.E592E|PKN2_ENST00000544045.1_Silent_p.E314E NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 640 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GTATTCAAGAACTTGAGGACA 0.318000 10 93 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143346 56143346 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:56143346G>T ENST00000302270.1 + 1 247 c.247G>T c.(247-249)Ggg>Tgg p.G83W NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) CAAAATGCTTGGGAATTTCTT 0.398000 53 116 1.35964e-18 2.06587e-18 1 1 0 CLTCL1 8218 broad.mit.edu 37 22 19195814 19195814 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:19195814C>A ENST00000263200.10 - 22 3522 c.3450G>T c.(3448-3450)tgG>tgT p.W1150C CLTCL1_ENST00000353891.5_Missense_Mutation_p.W1150C|CLTCL1_ENST00000427926.1_Missense_Mutation_p.W1150C NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1150 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CTAGATCCTCCCAGTTGTCTA 0.413000 T ? ALCL 45 61 8.04919e-23 1.30012e-22 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803549 142803549 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:142803549G>T ENST00000423385.1 - 0 1416 AATTCCTGATGAATCTGCAGT 0.274000 9 92 0.0581538 0.0596799 1 1 0 PTCH2 8643 broad.mit.edu 37 1 45295398 45295398 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:45295398C>A ENST00000447098.2 - 8 982 c.971G>T c.(970-972)aGt>aTt p.S324I PTCH2_ENST00000372192.3_Missense_Mutation_p.S324I NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 324 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CTGGCGGGGACTCATCAGCAA 0.612000 Basal Cell Nevus syndrome 38 66 4.11147e-13 5.68869e-13 1 1 0 TMEM158 25907 broad.mit.edu 37 3 45266859 45266859 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:45266859C>T ENST00000503771.1 - 1 911 c.661G>A c.(661-663)Gag>Aag p.E221K NM_015444.2 NP_056259.2 Q8WZ71 TM158_HUMAN transmembrane protein 158 (gene/pseudogene) 221 integral to membrane BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576) AGCGTGGACTCAATGGGCTTA 0.662000 3 3 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325708 152325708 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:152325708T>A ENST00000388718.5 - 3 4626 c.4554A>T c.(4552-4554)tcA>tcT p.S1518S FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1518 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGTGTGTCCTGAATGTGTGT 0.498000 224 390 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24509928 24509928 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:24509928G>T ENST00000264463.4 - 7 1510 c.1002_splice c.e7-1 p.P335_splice NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 335 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TAGTCGAGTGGCTGTATAAAA 0.373000 HNSCC(23;0.051) 34 33 6.70999e-13 9.21538e-13 1 1 0 CROCC 9696 broad.mit.edu 37 1 17298933 17298933 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:17298933G>T ENST00000375541.5 + 37 6115 c.6046G>T c.(6046-6048)Gag>Tag p.E2016* NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 2016 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CGGCCCCCCAGAGAAATGAGC 0.632000 16 8 2.32078e-09 2.96279e-09 1 1 0 ECT2 1894 broad.mit.edu 37 3 172482080 172482080 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:172482080G>T ENST00000417960.1 + 12 1462 c.985G>T c.(985-987)Gag>Tag p.E329* ECT2_ENST00000441497.2_Nonsense_Mutation_p.E330*|ECT2_ENST00000540509.1_Nonsense_Mutation_p.E361*|ECT2_ENST00000392692.3_Nonsense_Mutation_p.E361*|ECT2_ENST00000232458.5_Nonsense_Mutation_p.E330*|ECT2_ENST00000427830.1_Nonsense_Mutation_p.E330* NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 330 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) AAATACTCCTGAGCTCAAGAA 0.383000 28 33 9.39395e-14 1.31197e-13 1 1 0 DNAH11 8701 broad.mit.edu 37 7 21611514 21611514 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:21611514G>A ENST00000328843.6 + 8 1547 c.1516G>A c.(1516-1518)Gag>Aag p.E506K DNAH11_ENST00000409508.3_Missense_Mutation_p.E506K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 506 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ACAAGTCCACGAGATGAGTGA 0.363000 Kartagener syndrome 27 17 0 0 1 0 0 LRRC52 440699 broad.mit.edu 37 1 165514089 165514089 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:165514089T>A ENST00000294818.1 + 1 846 c.556T>A c.(556-558)Tgg>Agg p.W186R RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA NM_001005214.3 NP_001005214.2 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 186 LRRCT. integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) TGGAAACCCCTGGAAGTGCAA 0.527000 50 110 0 0 1 0 0 TRAV16 28667 broad.mit.edu 37 14 22459084 22459084 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:22459084C>A ENST00000390444.1 + 0 236 AAAGGCTTCACTGCTGACCTT 0.463000 16 6 4.14922e-12 5.62054e-12 1 1 0 PARD3B 117583 broad.mit.edu 37 2 206166581 206166581 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:206166581G>A ENST00000462231.1 + 19 2918 c.2758G>A c.(2758-2760)Gca>Aca p.A920T PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Intron Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 0 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TTCTGCAGAGGCAGAGGAGCT 0.473000 9 16 0 0 1 0 0 TUB 7275 broad.mit.edu 37 11 8123161 8123161 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:8123161G>T ENST00000305253.4 + 13 1922 c.1681G>T c.(1681-1683)Gag>Tag p.E561* TUB_ENST00000534099.1_Nonsense_Mutation_p.E512*|TUB_ENST00000299506.2_Nonsense_Mutation_p.E506* NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 506 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) GCTGGCGTGCGAGTAGAGGCC 0.592000 10 21 7.48243e-07 8.93083e-07 1 1 0 IL19 29949 broad.mit.edu 37 1 207010117 207010117 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:207010117T>C ENST00000270218.6 + 3 1049 c.110T>C c.(109-111)aTa>aCa p.I37T IL19_ENST00000340758.2_Missense_Mutation_p.I75T NM_013371.3 NP_037503.2 Q9UHD0 IL19_HUMAN interleukin 19 37 apoptosis|immune response|signal transduction extracellular space cytokine activity central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(75;0.211) ATGCACCATATAGAAGAGAGT 0.453000 69 56 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463961 25463961 + RNA SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:25463961T>G ENST00000424208.1 + 0 2994 SNHG14_ENST00000453082.2_RNA NR_003305.1 TGGCCCAACCTGTCTCTGCAC 0.587000 42 11 0 0 1 0 0 ENPP3 5169 broad.mit.edu 37 6 132039849 132039849 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:132039849G>T ENST00000414305.1 + 17 1778 c.1450G>T c.(1450-1452)Ggt>Tgt p.G484C ENPP3_ENST00000358229.5_Missense_Mutation_p.G484C|ENPP3_ENST00000357639.3_Missense_Mutation_p.G484C O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 484 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) AGGCAACCATGGTTATAACAA 0.313000 20 44 5.35267e-07 6.43012e-07 1 1 0 CDH20 28316 broad.mit.edu 37 18 59203766 59203766 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:59203766T>A ENST00000262717.4 + 8 1710 c.1312T>A c.(1312-1314)Tat>Aat p.Y438N CDH20_ENST00000538374.1_Missense_Mutation_p.Y438N|CDH20_ENST00000536675.2_Missense_Mutation_p.Y438N Q9HBT6 CAD20_HUMAN cadherin 20, type 2 438 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) AAGATTTTTCTATGTTGACAT 0.408000 25 99 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40036947 40036947 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:40036947G>T ENST00000336649.4 + 8 816 c.816G>T c.(814-816)tcG>tcT p.S272S CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S|CACNA1I_ENST00000400164.3_Silent_p.S272S|CACNA1I_ENST00000402142.3_Silent_p.S272S|CACNA1I_ENST00000401624.1_Silent_p.S272S Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 272 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCTCCCTGTCGGGCGACAATG 0.612000 20 7 2.94398e-08 3.65172e-08 1 1 0 ADAMTS19 171019 broad.mit.edu 37 5 129019848 129019848 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:129019848C>T ENST00000274487.4 + 18 2827 c.2682C>T c.(2680-2682)caC>caT p.H894H CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 894 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ATGGTCTTCACTATGAATACA 0.443000 43 18 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55105733 55105733 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:55105733G>T ENST00000453777.1 + 2 194 c.24G>T c.(22-24)ctG>ctT p.L8L LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.L8L|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 8 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TCACAGTCCTGATCTGTCTCA 0.592000 15 93 1.5739e-10 2.06063e-10 1 1 0 XPNPEP2 7512 broad.mit.edu 37 X 128876096 128876096 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:128876096G>A ENST00000371106.3 + 2 254 c.62G>A c.(61-63)gGc>gAc p.G21D XPNPEP2_ENST00000371105.3_Missense_Mutation_p.G21D NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 21 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 TGTGCCTGGGGCCACACAAAG 0.637000 22 6 0 0 1 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106405824 106405824 + RNA SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:106405824A>C ENST00000390593.2 - 0 201 CACTGTTGCTAGAGACACTGT 0.557000 29 96 0 0 1 0 0 HOXD10 3236 broad.mit.edu 37 2 176981673 176981673 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:176981673C>T ENST00000249501.4 + 1 367 c.112C>T c.(112-114)Cca>Tca p.P38S HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 38 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GTACATGCCACCACCTAGCGC 0.483000 51 78 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104831844 104831844 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:104831844C>T ENST00000507740.1 + 1 345 c.109C>T c.(109-111)Ctg>Ttg p.L37L RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Silent_p.L37L|RIMS2_ENST00000406091.3_Intron NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1026 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGACAAACACTGAACAATGC 0.323000 HNSCC(12;0.0054) 15 38 0 0 1 0 0 UHRF1 29128 broad.mit.edu 37 19 4930801 4930801 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:4930801G>T ENST00000592666.1 + 0 1058 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) AGGGTGACGCGGAAGGCCCCC 0.617000 19 9 6.94344e-10 8.97214e-10 1 1 0 GPR158 57512 broad.mit.edu 37 10 25701354 25701354 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:25701354G>T ENST00000376351.3 + 4 1646 c.1287G>T c.(1285-1287)ctG>ctT p.L429L NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 429 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGTGTATGCTGCTCGACTTCG 0.502000 81 91 7.427e-35 1.32491e-34 1 1 0 MTHFD1 4522 broad.mit.edu 37 14 64855041 64855041 + Missense_Mutation SNP T T C rs1076991 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:64855041T>C ENST00000545908.1 + 1 293 c.64T>C c.(64-66)Tgg>Cgg p.W22R MTHFD1_ENST00000555252.1_5'UTR|MTHFD1_ENST00000555709.1_5'UTR|MTHFD1_ENST00000216605.7_Missense_Mutation_p.W22R P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 0 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TGTGATCCCCTGGCCAGTCCC 0.622000 4 29 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57187600 57187600 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:57187600G>T ENST00000331162.4 - 5 1792 c.1522C>A c.(1522-1524)Ctt>Att p.L508I NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 508 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TGTTTAGCAAGACTTGAATGC 0.358000 67 32 4.10029e-35 7.32335e-35 1 1 0 CACNA1B 774 broad.mit.edu 37 9 141006903 141006903 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:141006903G>T ENST00000277549.5 + 40 5633 c.3064G>T c.(3064-3066)Gtg>Ttg p.V1022L CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1826L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1829L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1828L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1827L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1828L|CACNA1B_ENST00000371365.2_3'UTR Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1828 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GATTTCCGTTGTGTGGGCCAA 0.547000 6 17 5.9392e-07 7.11173e-07 1 1 0 NEUROD2 4761 broad.mit.edu 37 17 37762571 37762571 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:37762571G>T ENST00000302584.4 - 2 502 c.282C>A c.(280-282)gaC>gaA p.D94E NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 94 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) CCTCCGCCTCGTCCAGTCCTt 0.667000 10 6 0.0809354 0.0828305 1 1 0 IPO4 79711 broad.mit.edu 37 14 24652821 24652821 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:24652821C>T ENST00000354464.6 - 20 2214 c.2038G>A c.(2038-2040)Gtg>Atg p.V680M RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 680 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity p.V680M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) ATCTCCCCCACGGCAGCACAG 0.577000 31 34 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51491819 51491819 + Missense_Mutation SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:51491819T>G ENST00000371117.3 - 66 12036 c.11761A>C c.(11761-11763)Aaa>Caa p.K3921Q NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3921 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTGTCTTCTTTTTTGGGCCCT 0.473000 25 122 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10599903 10599903 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:10599903C>T ENST00000171111.5 - 5 2220 c.1673G>A c.(1672-1674)gGg>gAg p.G558E KEAP1_ENST00000393623.2_Missense_Mutation_p.G558E NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GACAGTGATCCCCAGGGCACT 0.572000 13 2 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3304458 3304458 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:3304458G>T ENST00000219596.1 - 2 649 c.610C>A c.(610-612)Cgc>Agc p.R204S MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 204 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.R204C(1) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GCGTTTCTGCGCAGCCGGACC 0.766000 5 16 0.00116845 0.00125275 1 1 0 SSH3 54961 broad.mit.edu 37 11 67074433 67074433 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:67074433G>T ENST00000308127.4 + 4 642 c.464_splice c.e4+1 p.S155_splice SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Splice_Site_p.S155_splice|SSH3_ENST00000308298.7_Splice_Site_p.S155_splice NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 155 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCTGACAGCAGGTTCGAGCAG 0.627000 12 22 2.80697e-09 3.56815e-09 1 1 0 ERCC1 2067 broad.mit.edu 37 19 45912960 45912960 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:45912960C>G ENST00000591636.1 - 6 752 c.626G>C c.(625-627)tGc>tCc p.C209S ERCC1_ENST00000340192.7_Silent_p.L265L|ERCC1_ENST00000588738.1_5'UTR|ERCC1_ENST00000423698.2_Silent_p.L217L|ERCC1_ENST00000589165.1_Silent_p.L289L|CD3EAP_ENST00000309424.3_3'UTR|ERCC1_ENST00000300853.3_Silent_p.L289L|CD3EAP_ENST00000589804.1_3'UTR P07992 ERCC1_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) 0 mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1) 15 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) AGGGCTCGTGCAGGACATCAA 0.527000 Nucleotide excision repair (NER) 8 5 0 0 1 0 0 NHLRC1 378884 broad.mit.edu 37 6 18122755 18122755 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:18122755A>C ENST00000340650.3 - 1 96 c.83T>G c.(82-84)gTg>gGg p.V28G NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 28 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) CTCAAAGCACACCTTGCACTC 0.706000 25 7 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898735 112898735 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:112898735A>T ENST00000374530.3 + 8 1091 c.911A>T c.(910-912)tAc>tTc p.Y304F AKAP2_ENST00000555236.1_Missense_Mutation_p.Y304F|AKAP2_ENST00000510514.5_Missense_Mutation_p.Y304F|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Y304F|AKAP2_ENST00000374525.1_Missense_Mutation_p.Y162F|AKAP2_ENST00000434623.2_Missense_Mutation_p.Y162F|AKAP2_ENST00000259318.7_Missense_Mutation_p.Y73F NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 73 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GATGGAACGTACAATGGAACA 0.557000 40 49 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139820048 139820048 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:139820048A>T ENST00000303045.6 - 10 1903 c.1457T>A c.(1456-1458)aTg>aAg p.M486K COL22A1_ENST00000435777.1_Missense_Mutation_p.M486K NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 486 Collagen-like 1.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 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) AGCAACTCCCATTTCACCCTA 0.448000 HNSCC(7;0.00092) 25 142 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100617791 100617791 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:100617791C>A ENST00000267294.4 - 2 2065 c.1832G>T c.(1831-1833)aGc>aTc p.S611I NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 611 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGACAGAGTGCTGGAGTGACT 0.642000 14 73 9.05144e-12 1.21613e-11 1 1 0 DPY19L3 147991 broad.mit.edu 37 19 32949337 32949337 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:32949337C>T ENST00000342179.5 + 12 1459 c.1244C>T c.(1243-1245)aCt>aTt p.T415I DPY19L3_ENST00000392250.2_Missense_Mutation_p.T415I|DPY19L3_ENST00000586987.1_Missense_Mutation_p.T415I NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 415 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) CTTTCAGATACTCTGCTTTTT 0.378000 93 163 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67696182 67696182 + Silent SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:67696182A>C ENST00000545606.1 + 8 1517 c.1080A>C c.(1078-1080)gtA>gtC p.V360V NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 360 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TGGATGCTGTAGTTAGCACAA 0.423000 65 141 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34086018 34086018 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:34086018G>T ENST00000297161.2 + 8 1050 c.e8+1 BMPER_ENST00000494786.1_Splice_Site|BMPER_ENST00000426693.1_Splice_Site NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 AAATGTTTGGGTGAGTTACTA 0.458000 63 58 1.87469e-40 3.41815e-40 1 1 0 EPG5 57724 broad.mit.edu 37 18 43535270 43535270 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:43535270T>C ENST00000282041.5 - 2 132 c.98A>G c.(97-99)gAg>gGg p.E33G NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 33 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TTCACTGGACTCTTCCCTCTG 0.393000 4 40 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241700757 241700757 + Nonsense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:241700757C>T ENST00000498729.2 - 24 2400 c.2154G>A c.(2152-2154)tgG>tgA p.W718* KIF1A_ENST00000320389.7_Nonsense_Mutation_p.W709* NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 709 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TCCGGAAGGCCCAGAGCGCCA 0.637000 22 28 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103471677 103471677 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:103471677C>A ENST00000358392.2 - 17 2091 c.1773_splice c.e17-1 p.G592_splice COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Splice_Site_p.G541_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G580_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G464_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 580 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTGGACGACCCTAATAATGC 0.363000 13 43 0.00185496 0.0019788 1 1 0 RBBP8 5932 broad.mit.edu 37 18 20602224 20602224 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:20602224A>T ENST00000399722.2 + 18 2938 c.2587A>T c.(2587-2589)Atg>Ttg p.M863L RBBP8_ENST00000327155.5_Missense_Mutation_p.M863L|RBBP8_ENST00000399725.2_Silent_p.V830V|RBBP8_ENST00000581687.1_Missense_Mutation_p.M41L|RBBP8_ENST00000360790.5_Missense_Mutation_p.M868L NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 863 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TCAGACTTGTATGGAAAGAGG 0.408000 Homologous recombination 160 35 0 0 1 0 0 MARK4 57787 broad.mit.edu 37 19 45774827 45774827 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:45774827G>T ENST00000300843.4 + 8 944 c.647G>T c.(646-648)tGc>tTc p.C216F MARK4_ENST00000262891.4_Missense_Mutation_p.C216F NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 216 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GACACGTTCTGCGGGAGCCCC 0.597000 7 101 2.7689e-08 3.45183e-08 1 1 0 GRIN2A 2903 broad.mit.edu 37 16 10031980 10031980 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:10031980G>A ENST00000396573.2 - 4 1152 c.843C>T c.(841-843)taC>taT p.Y281Y GRIN2A_ENST00000535259.1_Silent_p.Y124Y|GRIN2A_ENST00000404927.2_Silent_p.Y281Y|GRIN2A_ENST00000330684.3_Silent_p.Y281Y|GRIN2A_ENST00000562109.1_Silent_p.Y281Y|GRIN2A_ENST00000396575.2_Silent_p.Y281Y NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 281 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCCAGTCATCGTAGGAGACAG 0.537000 20 32 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003456 122003456 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:122003456C>A ENST00000498619.1 + 7 3123 c.2685C>A c.(2683-2685)gcC>gcA p.A895A CASR_ENST00000490131.1_Silent_p.A885A|CASR_ENST00000296154.5_Silent_p.A885A NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 885 Interaction with RNF19A. anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AGGTGGCTGCCCGGGCCACGC 0.612000 26 28 3.6726e-16 5.36626e-16 1 1 0 NDST3 9348 broad.mit.edu 37 4 119161771 119161771 + Silent SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:119161771C>G ENST00000296499.5 + 11 2614 c.2211C>G c.(2209-2211)gcC>gcG p.A737A NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 737 Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 AGCTCAGAGCCTTGCAGAAGA 0.512000 10 34 0 0 1 0 0 LLGL1 3996 broad.mit.edu 37 17 18141033 18141033 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:18141033C>G ENST00000316843.4 + 14 1946 c.1850C>G c.(1849-1851)aCc>aGc p.T617S NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 617 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) GCTTTTGGCACCAGTCATGGC 0.657000 7 23 0 0 1 0 0 TPSD1 23430 broad.mit.edu 37 16 1306324 1306324 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:1306324G>T ENST00000211076.3 + 1 191 c.43G>T c.(43-45)Gcg>Tcg p.A15S TPSD1_ENST00000397534.2_Missense_Mutation_p.A8S NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 15 proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) GCTGCTGCTGGCGCTGCCCGT 0.697000 27 45 1.55811e-20 2.44493e-20 1 1 0 PLEKHG2 64857 broad.mit.edu 37 19 39911932 39911932 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:39911932G>T ENST00000425673.1 + 14 1734 c.1409G>T c.(1408-1410)gGa>gTa p.G470V PLEKHG2_ENST00000409797.2_Missense_Mutation_p.G499V|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.G499V|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.G499V|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G440V Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 499 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCTAAGCCTGGATTCAAGGTA 0.468000 35 22 9.93527e-08 1.21713e-07 1 1 0 TOX 9760 broad.mit.edu 37 8 59728124 59728124 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:59728124G>C ENST00000361421.1 - 7 1385 c.1165C>G c.(1165-1167)Cat>Gat p.H389D NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 389 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) AGACTAGGATGCATGGCAGTT 0.567000 8 35 0 0 1 0 0 HOOK1 51361 broad.mit.edu 37 1 60297839 60297839 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:60297839G>C ENST00000371208.3 + 4 484 c.227G>C c.(226-228)aGt>aCt p.S76T HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.S34T NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 76 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) CATTAGGCCAGTAATGTAAAG 0.284000 31 43 0 0 1 0 0 CST5 1473 broad.mit.edu 37 20 23860156 23860156 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:23860156C>A ENST00000304710.4 - 1 231 c.158G>T c.(157-159)aGc>aTc p.S53I NM_001900.4 NP_001891.2 P28325 CYTD_HUMAN cystatin D 53 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 GTTGTACTCGCTGATGGCAAA 0.582000 63 130 1.80625e-27 3.07104e-27 1 1 0 ARSB 411 broad.mit.edu 37 5 78251295 78251295 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:78251295C>A ENST00000264914.4 - 4 1257 c.721G>T c.(721-723)Gtg>Ttg p.V241L ARSB_ENST00000565165.1_Missense_Mutation_p.V241L|ARSB_ENST00000396151.3_Missense_Mutation_p.V241L NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B 241 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) GGCTCATGCACAGACTGGAGA 0.428000 29 41 3.65163e-15 5.22264e-15 1 1 0 ZNF776 284309 broad.mit.edu 37 19 58265420 58265420 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:58265420G>T ENST00000317178.5 + 3 1185 c.922G>T c.(922-924)Gtt>Ttt p.V308F ZNF776_ENST00000489376.1_3'UTR NM_173632.3 NP_775903.3 zinc finger protein 776 cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) GCACAGTCTTGTTGACCATCA 0.448000 103 24 8.13309e-56 1.52984e-55 1 1 0 MET 4233 broad.mit.edu 37 7 116340087 116340087 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:116340087C>A ENST00000397752.3 + 2 1149 c.949C>A c.(949-951)Ctt>Att p.L317I MET_ENST00000436117.2_Missense_Mutation_p.L317I|MET_ENST00000318493.6_Missense_Mutation_p.L317I NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 317 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GTTTAATATACTTCAGGCTGC 0.443000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 18 69 2.35188e-11 3.13725e-11 1 1 0 ASCC3 10973 broad.mit.edu 37 6 100964120 100964120 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:100964120C>A ENST00000369162.2 - 39 6355 c.6011G>T c.(6010-6012)gGa>gTa p.G2004V NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 2004 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GTCTTTCCCTCCACAGGCATG 0.468000 12 56 2.39556e-15 3.43943e-15 1 1 0 USP35 57558 broad.mit.edu 37 11 77907333 77907333 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:77907333G>T ENST00000529308.1 + 2 303 c.42G>T c.(40-42)ccG>ccT p.P14P USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 14 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CGTCATACCCGGTCAGCGTGA 0.711000 17 25 3.41278e-10 4.4525e-10 1 1 0 SCMH1 22955 broad.mit.edu 37 1 41618289 41618289 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:41618289T>A ENST00000402904.2 - 4 426 c.58A>T c.(58-60)Atc>Ttc p.I20F SCMH1_ENST00000337495.5_Intron|SCMH1_ENST00000361191.5_Intron|SCMH1_ENST00000372595.1_Intron|SCMH1_ENST00000326197.7_Missense_Mutation_p.I20F|SCMH1_ENST00000397171.2_Intron|SCMH1_ENST00000372596.1_Intron|SCMH1_ENST00000372597.1_Intron|SCMH1_ENST00000361705.3_Intron|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397174.2_5'UTR NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 20 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) GACCCCATGATGGAGCAGGGA 0.443000 18 57 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4389327 4389327 + Missense_Mutation SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:4389327T>G ENST00000408920.2 - 1 289 c.199A>C c.(199-201)Atg>Ctg p.M67L NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) CCAGCCAGCATGCAGAGGAAG 0.532000 11 26 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70066688 70066688 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:70066688A>G ENST00000330891.5 - 8 1151 c.925T>C c.(925-927)Tgg>Cgg p.W309R BEST3_ENST00000488961.1_Missense_Mutation_p.W96R|BEST3_ENST00000476098.1_Missense_Mutation_p.W96R|BEST3_ENST00000331471.4_Missense_Mutation_p.W309R|BEST3_ENST00000553096.1_Missense_Mutation_p.W203R NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 309 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TCAATGCACCAGTTAGTTTCA 0.323000 22 22 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50280578 50280578 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:50280578A>C ENST00000404971.1 - 22 5418 c.4079T>G c.(4078-4080)aTa>aGa p.I1360R NRXN1_ENST00000402717.3_Missense_Mutation_p.I1312R|NRXN1_ENST00000401669.2_Missense_Mutation_p.I1320R|NRXN1_ENST00000405472.3_Missense_Mutation_p.I1312R|NRXN1_ENST00000342183.5_Missense_Mutation_p.I255R|NRXN1_ENST00000401710.1_Missense_Mutation_p.I308R|NRXN1_ENST00000406859.3_Missense_Mutation_p.I1290R|NRXN1_ENST00000406316.2_Missense_Mutation_p.I1290R NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1290 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATTTCCCACTATGGCGATGTT 0.502000 36 55 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130293046 130293046 + Missense_Mutation SNP G G T rs149093613 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:130293046G>T ENST00000358511.6 + 7 3255 c.3224G>T c.(3223-3225)gGa>gTa p.G1075V COL6A6_ENST00000453409.2_Missense_Mutation_p.G1075V NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1075 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CAGATCTTTGGAAACACACAC 0.478000 36 57 5.43694e-19 8.31202e-19 1 1 0 BANF2 140836 broad.mit.edu 37 20 17705668 17705668 + Splice_Site SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:17705668G>A ENST00000545418.2 + 2 36 c.18_splice c.e2-1 p.E7_splice BANF2_ENST00000246090.5_5'UTR|BANF2_ENST00000377805.3_5'UTR NM_001159495.1 NP_001152967.1 Q9H503 BAFL_HUMAN barrier to autointegration factor 2 0 cytoplasm|nucleus DNA binding large_intestine(1)|lung(1)|prostate(3)|skin(1) 6 GCTGTCGCAGGAGATGGACAA 0.577000 27 72 0 0 1 0 0 MUC13 56667 broad.mit.edu 37 3 124627145 124627145 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:124627145T>C ENST00000311075.3 - 11 1423 c.1385A>G c.(1384-1386)gAc>gGc p.D462G NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 462 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 ATTTTGAAAGTCTTCGTCAAT 0.423000 15 45 0 0 1 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68788574 68788574 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:68788574G>T ENST00000508048.1 - 7 623 c.588C>A c.(586-588)gcC>gcA p.A196A TMPRSS11A_ENST00000334830.7_Silent_p.A200A|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Silent_p.A197A Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 200 Peptidase S1. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 GCCAAGGCCAGGCCGCCTTGG 0.453000 16 34 1.3612e-06 1.60536e-06 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25472146 25472146 + RNA SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:25472146C>G ENST00000453082.2 + 0 1188 NR_003343.1 GCCCCCAGTGCGCTGAAGCTC 0.627000 36 8 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15280927 15280927 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:15280927G>T ENST00000263388.2 - 28 5244 c.5169C>A c.(5167-5169)gaC>gaA p.D1723E NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1723 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GGCACTCTGTGTCCATCCAGT 0.637000 6 1 5.9392e-07 7.11173e-07 1 1 0 PCDHA5 56143 broad.mit.edu 37 5 140202976 140202976 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140202976C>T ENST00000529859.1 + 1 1616 c.1616C>T c.(1615-1617)gCg>gTg p.A539V PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A539V|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A539V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGACGCGGGCGTGCCG 0.687000 103 17 0 0 1 0 0 VSIG10 54621 broad.mit.edu 37 12 118533341 118533341 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:118533341C>A ENST00000359236.5 - 2 634 c.358G>T c.(358-360)Gcc>Tcc p.A120S VSIG10_ENST00000536905.1_5'UTR NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 120 integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 CACTTACTGGCCACCTGCAGC 0.582000 38 34 1.57019e-19 2.41794e-19 1 1 0 SUN1 23353 broad.mit.edu 37 7 883161 883161 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:883161A>T ENST00000457378.2 + 7 961 c.725A>T c.(724-726)aAg>aTg p.K242M SUN1_ENST00000403868.1_Missense_Mutation_p.K221M|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000456758.2_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000389574.3_Intron NM_001171945.1 NP_001165416.1 O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 0 EMD-binding.|SYNE2-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CAAAAATGTAAGTCTCAGTCC 0.473000 21 318 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85341641 85341641 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:85341641T>A ENST00000299927.3 + 4 2694 c.2672T>A c.(2671-2673)gTc>gAc p.V891D ZNF592_ENST00000560079.2_Missense_Mutation_p.V891D Q92610 ZN592_HUMAN zinc finger protein 592 891 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CAGGTGGGCGTCTTCAAGTGC 0.537000 12 46 0 0 1 0 0 CLPTM1 1209 broad.mit.edu 37 19 45477749 45477749 + Silent SNP G G C rs147024274 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:45477749G>C ENST00000541297.2 + 4 786 c.321G>C c.(319-321)acG>acC p.T107T CLPTM1_ENST00000546079.1_Silent_p.T19T|CLPTM1_ENST00000337392.5_Silent_p.T121T O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 121 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) TCAACGCCACGTCGGCACTCT 0.552000 69 16 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90106336 90106336 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:90106336G>T ENST00000405460.2 + 74 15355 c.15259G>T c.(15259-15261)Gaa>Taa p.E5087* GPR98_ENST00000425867.2_Nonsense_Mutation_p.E748* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5087 Calx-beta 33. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTCTGAGATAGAAGAATTTTT 0.333000 38 59 1.06647e-15 1.54311e-15 1 1 0 ABI3BP 25890 broad.mit.edu 37 3 100617729 100617729 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:100617729C>A ENST00000471714.1 - 4 468 c.359G>T c.(358-360)cGt>cTt p.R120L ABI3BP_ENST00000495063.1_Missense_Mutation_p.R120L|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R120L Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 120 Fibronectin type-III 1. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TTTGCGAGAACGAGTTTTACC 0.478000 26 77 6.07407e-21 9.58182e-21 1 1 0 C20orf166 128826 broad.mit.edu 37 20 61162264 61162264 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:61162264A>T ENST00000370527.3 + 3 856 c.77A>T c.(76-78)cAg>cTg p.Q26L C20orf166_ENST00000370523.1_Intron|C20orf166_ENST00000370524.2_Intron NM_178463.3 NP_848558.1 Q9H1L0 CT166_HUMAN chromosome 20 open reading frame 166 26 endometrium(1)|kidney(1)|lung(2) 4 Breast(26;1.04e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) AGGACCCAGCAGGTGGCGCGG 0.672000 4 1 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213962 102213962 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:102213962C>G ENST00000520347.1 - 2 2964 c.8G>C c.(7-9)cGt>cCt p.R3P ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P Q9Y5V0 ZN706_HUMAN zinc finger protein 706 3 intracellular zinc ion binding p.R3P(2) large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGCTGTCCACGAGCCATATC 0.398000 8 39 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18789788 18789788 + Nonsense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:18789788T>A ENST00000396576.2 + 4 840 c.339T>A c.(337-339)tgT>tgA p.C113* CACNB2_ENST00000377319.3_Nonsense_Mutation_p.C113*|CACNB2_ENST00000324631.7_Nonsense_Mutation_p.C168*|CACNB2_ENST00000377315.4_Nonsense_Mutation_p.C120*|CACNB2_ENST00000352115.6_Nonsense_Mutation_p.C168*|CACNB2_ENST00000377329.4_Nonsense_Mutation_p.C114*|CACNB2_ENST00000282343.8_Nonsense_Mutation_p.C140*|CACNB2_ENST00000377331.2_Nonsense_Mutation_p.C140*|CACNB2_ENST00000377328.1_Intron NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 168 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGAAGGCTGTGAAATCGGAT 0.408000 34 40 0 0 1 0 0 FPGT 8790 broad.mit.edu 37 1 74670732 74670732 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:74670732G>T ENST00000370898.2 + 4 1038 c.1001G>T c.(1000-1002)aGg>aTg p.R334M FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370894.4_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron NM_001199328.1|NM_003838.3 NP_001186257.1|NP_003829.2 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GTAGAAATGAGGCAGAGAATA 0.363000 11 51 1.58986e-06 1.8632e-06 1 1 0 TRIM60 166655 broad.mit.edu 37 4 165962485 165962485 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:165962485T>A ENST00000512596.1 + 3 1477 c.1261T>A c.(1261-1263)Tat>Aat p.Y421N TRIM60_ENST00000508504.1_Missense_Mutation_p.Y421N|TRIM60_ENST00000341062.5_Missense_Mutation_p.Y421N NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 421 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TTTTCTGGACTATGAATTGGG 0.373000 47 60 0 0 1 0 0 PTPN5 84867 broad.mit.edu 37 11 18763889 18763889 + Silent SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:18763889A>T ENST00000396170.1 - 7 1813 c.549T>A c.(547-549)ccT>ccA p.P183P PTPN5_ENST00000396171.4_Silent_p.P215P|PTPN5_ENST00000396167.2_Silent_p.P183P|PTPN5_ENST00000396168.1_Silent_p.P191P|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Silent_p.P215P|PTPN5_ENST00000477854.1_Silent_p.P19P NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 215 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 AATCAAACACAGGAGTCTCGG 0.602000 45 43 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69058477 69058477 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:69058477G>T ENST00000288368.4 + 34 4398 c.4121G>T c.(4120-4122)cGg>cTg p.R1374L NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1374 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GAAGGAAGTCGGCAAGCTCTG 0.328000 16 40 2.48551e-13 3.44539e-13 1 1 0 GPR32 2854 broad.mit.edu 37 19 51274696 51274696 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:51274696T>A ENST00000270590.4 + 1 976 c.839T>A c.(838-840)cTg>cAg p.L280Q NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 280 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TTGGTCCATCTGTGGCGACGG 0.592000 82 14 0 0 1 0 0 MEIS2 4212 broad.mit.edu 37 15 37385787 37385787 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:37385787C>A ENST00000338564.5 - 7 1080 c.634G>T c.(634-636)Gac>Tac p.D212Y MEIS2_ENST00000397620.2_Missense_Mutation_p.D124Y|MEIS2_ENST00000557796.2_Missense_Mutation_p.D199Y|MEIS2_ENST00000559561.1_Missense_Mutation_p.D212Y|MEIS2_ENST00000561208.1_Missense_Mutation_p.D212Y|MEIS2_ENST00000397624.3_Missense_Mutation_p.D124Y|MEIS2_ENST00000559085.1_Missense_Mutation_p.D199Y|MEIS2_ENST00000340545.5_Missense_Mutation_p.D199Y|MEIS2_ENST00000444725.1_Missense_Mutation_p.D212Y|MEIS2_ENST00000219869.9_Missense_Mutation_p.D66Y|MEIS2_ENST00000424352.2_Missense_Mutation_p.D212Y|MEIS2_ENST00000382766.2_Missense_Mutation_p.D212Y NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 212 Ser/Thr-rich. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) CTTACATGGTCAGCGAGATTT 0.428000 45 15 2.95478e-19 4.53127e-19 1 1 0 CXXC11 285093 broad.mit.edu 37 2 242814847 242814847 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:242814847C>T ENST00000343216.3 + 2 1168 c.1140C>T c.(1138-1140)gcC>gcT p.A380A NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 380 integral to membrane TCAAGGATGCCGTTGCTGAGG 0.617000 11 30 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53621178 53621178 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:53621178T>A ENST00000425354.2 - 3 639 c.152A>T c.(151-153)cAg>cTg p.Q51L RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.Q51L NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 51 Modulating. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GAGGTCAGGCTGGCCCAGGCC 0.602000 11 40 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93496749 93496749 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:93496749G>C ENST00000394196.4 + 14 2733 c.1665G>C c.(1663-1665)tgG>tgC p.W555C CHD2_ENST00000557381.1_Missense_Mutation_p.W555C NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 555 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TTGAAATCTGGGCACCAGAGA 0.448000 36 84 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30490663 30490663 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:30490663G>C ENST00000356798.6 + 6 637 c.457G>C c.(457-459)Ggc>Cgc p.G153R ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 153 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) ATGTATCAAGGGCAACGTAGA 0.473000 19 28 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41337832 41337832 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:41337832G>T ENST00000551295.2 + 14 1660 c.1543G>T c.(1543-1545)Gat>Tat p.D515Y CNTN1_ENST00000347616.1_Missense_Mutation_p.D515Y|CNTN1_ENST00000348761.2_Missense_Mutation_p.D504Y|CNTN1_ENST00000547702.1_Missense_Mutation_p.D515Y|CNTN1_ENST00000360099.3_Missense_Mutation_p.D515Y|CNTN1_ENST00000547849.1_Missense_Mutation_p.D515Y NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 515 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AATTAATGCCGATATCACAGT 0.383000 21 51 1.2644e-06 1.49594e-06 1 1 0 HTT 3064 broad.mit.edu 37 4 3148599 3148599 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:3148599G>T ENST00000355072.5 + 25 3364 c.3219G>T c.(3217-3219)ctG>ctT p.L1073L NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1073 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TTCTGACCCTGCTCTCGTCAG 0.502000 94 173 1.52795e-29 2.63708e-29 1 1 0 ZNF382 84911 broad.mit.edu 37 19 37118372 37118372 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:37118372T>C ENST00000435416.1 + 3 3065 c.1570T>C c.(1570-1572)Tgt>Cgt p.C524R ZNF382_ENST00000292928.2_Missense_Mutation_p.C525R|ZNF382_ENST00000439428.1_Missense_Mutation_p.C524R|ZNF382_ENST00000423582.1_Missense_Mutation_p.C476R Q96SR6 ZN382_HUMAN zinc finger protein 382 525 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATGTAAACAGTGTGGGAAGTT 0.418000 26 90 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57569605 57569605 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:57569605G>T ENST00000524630.1 + 7 1870 c.1357G>T c.(1357-1359)Gtg>Ttg p.V453L CTNND1_ENST00000531014.1_Missense_Mutation_p.V130L|CTNND1_ENST00000529986.1_Missense_Mutation_p.V352L|CTNND1_ENST00000528621.1_Missense_Mutation_p.V399L|CTNND1_ENST00000527467.1_Missense_Mutation_p.V130L|CTNND1_ENST00000415361.2_Missense_Mutation_p.V352L|CTNND1_ENST00000360682.6_Missense_Mutation_p.V453L|CTNND1_ENST00000428599.2_Missense_Mutation_p.V453L|CTNND1_ENST00000526357.1_Missense_Mutation_p.V399L|CTNND1_ENST00000361332.4_Missense_Mutation_p.V453L|CTNND1_ENST00000532463.1_Missense_Mutation_p.V352L|CTNND1_ENST00000525902.1_Missense_Mutation_p.V130L|CTNND1_ENST00000534579.1_Missense_Mutation_p.V399L|CTNND1_ENST00000530094.1_Missense_Mutation_p.V352L|CTNND1_ENST00000529526.1_Missense_Mutation_p.V399L|CTNND1_ENST00000532844.1_Missense_Mutation_p.V399L|CTNND1_ENST00000532787.1_Missense_Mutation_p.V352L|CTNND1_ENST00000529919.1_Missense_Mutation_p.V453L|CTNND1_ENST00000526772.1_Missense_Mutation_p.V130L|CTNND1_ENST00000528232.1_Missense_Mutation_p.V352L|CTNND1_ENST00000399050.4_Missense_Mutation_p.V453L|CTNND1_ENST00000361796.4_Missense_Mutation_p.V453L|CTNND1_ENST00000532649.1_Missense_Mutation_p.V399L|CTNND1_ENST00000530748.1_Missense_Mutation_p.V399L|CTNND1_ENST00000529873.1_Missense_Mutation_p.V399L|CTNND1_ENST00000526938.1_Missense_Mutation_p.V453L|CTNND1_ENST00000361391.6_Missense_Mutation_p.V453L|CTNND1_ENST00000399039.4_Missense_Mutation_p.V453L|CTNND1_ENST00000532245.1_Missense_Mutation_p.V352L|CTNND1_ENST00000358694.6_Missense_Mutation_p.V453L|CTNND1_ENST00000533667.1_Missense_Mutation_p.V130L|CTNND1_ENST00000426142.2_Missense_Mutation_p.V352L O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 453 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) CTGTGATGGTGTGCCTGCCCT 0.458000 57 147 6.3091e-27 1.06902e-26 1 1 0 GIMAP7 168537 broad.mit.edu 37 7 150217354 150217354 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:150217354G>T ENST00000313543.4 + 2 449 c.292G>T c.(292-294)Gtt>Ttt p.V98F NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 98 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TATTGTCCTAGTTCTGCTGCT 0.547000 29 38 1.17739e-12 1.60809e-12 1 1 0 MAMLD1 10046 broad.mit.edu 37 X 149639150 149639150 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:149639150C>A ENST00000370401.2 + 4 1615 c.1305C>A c.(1303-1305)acC>acA p.T435T MAMLD1_ENST00000432680.2_Silent_p.T410T|MAMLD1_ENST00000426613.2_Silent_p.T410T|MAMLD1_ENST00000262858.5_Silent_p.T435T Q13495 MAMD1_HUMAN mastermind-like domain containing 1 435 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TGTCCTCTACCATCAAAACCC 0.602000 106 25 3.36245e-48 6.26141e-48 1 1 0 SLFN12L 100506736 broad.mit.edu 37 17 33802110 33802110 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:33802110C>A ENST00000260908.7 - 4 1716 c.1599G>T c.(1597-1599)tcG>tcT p.S533S SLFN12L_ENST00000449046.1_Silent_p.S564S|SLFN12L_ENST00000361112.4_Silent_p.S562S NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 565 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 AAATTACTTGCGAGTTTAAAT 0.383000 26 33 4.26978e-12 5.77333e-12 1 1 0 MCF2L 23263 broad.mit.edu 37 13 113730285 113730285 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:113730285G>A ENST00000397030.1 + 12 1450 c.1413G>A c.(1411-1413)atG>atA p.M471I MCF2L_ENST00000434480.2_Missense_Mutation_p.M444I|MCF2L_ENST00000423482.2_Missense_Mutation_p.M436I|MCF2L_ENST00000442652.2_Missense_Mutation_p.M468I|MCF2L_ENST00000375608.3_Missense_Mutation_p.M468I|MCF2L_ENST00000375604.2_Missense_Mutation_p.M495I|MCF2L_ENST00000421756.1_Missense_Mutation_p.M442I|MCF2L_ENST00000535094.2_Missense_Mutation_p.M438I|MCF2L_ENST00000375597.4_Missense_Mutation_p.M436I|MCF2L_ENST00000375601.3_Missense_Mutation_p.M442I O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 468 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) TCCAGTCCATGAAGTGGTGTG 0.612000 11 9 0 0 1 0 0 FAM220A 84792 broad.mit.edu 37 7 6370522 6370522 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:6370522T>A ENST00000313324.4 - 2 731 c.264A>T c.(262-264)gaA>gaT p.E88D NM_001037163.1 NP_001032240.1 Q7Z4H9 SIPAR_HUMAN family with sequence similarity 220, member A 88 nucleus TTCTTACTGATTCTCTCACAT 0.542000 67 37 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184764144 184764144 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:184764144C>T ENST00000367511.3 - 14 2947 c.2754G>A c.(2752-2754)caG>caA p.Q918Q FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 918 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GGAAACTCTCCTGACCACCTT 0.512000 52 70 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81392079 81392079 + Silent SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:81392079A>T ENST00000222390.5 - 2 424 c.198T>A c.(196-198)acT>acA p.T66T HGF_ENST00000457544.2_Silent_p.T66T|HGF_ENST00000423064.2_Silent_p.T66T|HGF_ENST00000444829.2_Silent_p.T66T|HGF_ENST00000354224.6_Silent_p.T66T|HGF_ENST00000453411.1_Silent_p.T66T|HGF_ENST00000453018.1_5'UTR NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 66 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 ATTGGTCTGCAGTATTCACTT 0.308000 34 14 0 0 1 0 0 UNKL 64718 broad.mit.edu 37 16 1417181 1417181 + Missense_Mutation SNP C C A rs35080336 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:1417181C>A ENST00000248104.7 - 5 1002 c.446G>T c.(445-447)cGg>cTg p.R149L UNKL_ENST00000402641.2_Missense_Mutation_p.R152L|UNKL_ENST00000389221.4_Intron|UNKL_ENST00000397464.1_Intron|UNKL_ENST00000508903.2_Missense_Mutation_p.R653L|UNKL_ENST00000403703.1_Missense_Mutation_p.R152L|UNKL_ENST00000391893.2_Missense_Mutation_p.R149L NM_001276414.1 NP_001263343.1 Q9H9P5 UNKL_HUMAN unkempt family zinc finger-like 630 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) CCCACAGCCCCGCAGCCCCGG 0.682000 4 3 0.00909568 0.00946511 1 1 0 SPIRE2 84501 broad.mit.edu 37 16 89924885 89924885 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:89924885G>T ENST00000378247.3 + 8 1285 c.1242G>T c.(1240-1242)ttG>ttT p.L414F SPIRE2_ENST00000393062.2_Missense_Mutation_p.L414F NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 414 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CGCCTACCTTGGCTGAAATGG 0.592000 57 10 6.4308e-24 1.05477e-23 1 1 0 RHOXF2B 727940 broad.mit.edu 37 X 119211065 119211065 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:119211065A>T ENST00000371402.2 - 2 457 c.268T>A c.(268-270)Tgg>Agg p.W90R RP4-755D9.1_ENST00000553843.1_RNA NM_001099685.1 NP_001093155.1 P0C7M4 RHF2B_HUMAN Rhox homeobox family, member 2B 90 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1) 7 TTTCCTTCCCATAGGTGGCCA 0.602000 50 5 0 0 1 0 0 PFKFB1 5207 broad.mit.edu 37 X 54982641 54982641 + Nonsense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:54982641T>A ENST00000375006.3 - 7 653 c.583A>T c.(583-585)Aag>Tag p.K195* PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.K130*|PFKFB1_ENST00000374992.2_Intron NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 195 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 TCAATTCTCTTTAGAAAGTCT 0.483000 9 5 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21531691 21531691 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:21531691C>T ENST00000313654.9 + 73 9927 c.9686C>T c.(9685-9687)tCg>tTg p.S3229L LAMA3_ENST00000399516.3_Missense_Mutation_p.S3173L|LAMA3_ENST00000269217.6_Missense_Mutation_p.S1620L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.S1564L NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 3229 Laminin G-like 5. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCAACGTCGGTCACACCA 0.542000 46 11 0 0 1 0 0 ZC3H6 376940 broad.mit.edu 37 2 113067564 113067564 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:113067564A>T ENST00000409871.1 + 4 840 c.439A>T c.(439-441)Aac>Tac p.N147Y ZC3H6_ENST00000343936.4_Missense_Mutation_p.N147Y NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 147 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 CAGTGATGACAACTTCGGTAA 0.368000 11 25 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111681117 111681117 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:111681117T>A ENST00000374647.5 - 8 1021 c.714A>T c.(712-714)gcA>gcT p.A238A IKBKAP_ENST00000537196.1_Intron NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 238 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GTCCCAGTCCTGCCACAGGCT 0.522000 26 35 0 0 1 0 0 VAPB 9217 broad.mit.edu 37 20 56993338 56993338 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:56993338G>T ENST00000475243.1 + 2 468 c.130G>T c.(130-132)Gtg>Ttg p.V44L VAPB_ENST00000395802.3_Missense_Mutation_p.V44L|VAPB_ENST00000265619.2_3'UTR NM_004738.4 NP_004729.1 O95292 VAPB_HUMAN VAMP (vesicle-associated membrane protein)-associated protein B and C 44 MSP. cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(2)|lung(3)|prostate(1) 6 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) GTGTTTTAAGGTGAAGACTAC 0.502000 29 64 5.60225e-13 7.73694e-13 1 1 0 TTC39C 125488 broad.mit.edu 37 18 21711845 21711845 + Splice_Site SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:21711845G>C ENST00000540918.2 + 8 952 c.e8-1 TTC39C_ENST00000317571.3_Splice_Site|TTC39C_ENST00000304621.6_Splice_Site Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 TTTTCTTATAGACTGTAGGAA 0.368000 33 138 0 0 1 0 0 RXRG 6258 broad.mit.edu 37 1 165380290 165380290 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:165380290C>A ENST00000359842.5 - 5 981 c.679G>T c.(679-681)Gct>Tct p.A227S RXRG_ENST00000470566.1_5'UTR NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 227 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) CCACTGGTAGCACATTCTGCC 0.488000 23 54 1.28384e-07 1.55865e-07 1 1 0 FBXO17 115290 broad.mit.edu 37 19 39440854 39440854 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:39440854G>T ENST00000292852.4 - 2 447 c.106C>A c.(106-108)Cgc>Agc p.R36S FBXO17_ENST00000595329.1_Missense_Mutation_p.R36S NM_024907.5 NP_079183.4 F-box protein 17 breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 7 all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) ACCAAGGAGCGTGGCGGCACG 0.751000 3 2 0.004672 0.00490296 1 1 0 PPP2R4 5524 broad.mit.edu 37 9 131904749 131904749 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:131904749A>T ENST00000337738.1 + 10 1184 c.917A>T c.(916-918)cAc>cTc p.H306L PPP2R4_ENST00000435132.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000348141.5_Missense_Mutation_p.H277L|PPP2R4_ENST00000524946.2_Missense_Mutation_p.H9L|PPP2R4_ENST00000358994.4_Missense_Mutation_p.H271L|PPP2R4_ENST00000347048.4_Missense_Mutation_p.H52L|PPP2R4_ENST00000357197.4_Missense_Mutation_p.H242L|PPP2R4_ENST00000393370.2_Missense_Mutation_p.H271L|PPP2R4_ENST00000432124.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000435305.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000452489.2_Missense_Mutation_p.H306L|PPP2R4_ENST00000432651.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000434095.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000423100.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000355007.3_Missense_Mutation_p.H229L|PPP2R4_ENST00000419582.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000414510.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000436883.1_Missense_Mutation_p.H9L NM_178001.2 NP_821068.1 Q15257 PTPA_HUMAN protein phosphatase 2A activator, regulatory subunit 4 306 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) TTTGCAGAGCACTCCAACCAG 0.567000 OREG0003933 type=REGULATORY REGION|Gene=PPP2R4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 21 24 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140245519 140245519 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:140245519C>A ENST00000340951.4 - 14 1660 c.1465G>T c.(1465-1467)Ggc>Tgc p.G489C EXD3_ENST00000342129.4_Missense_Mutation_p.G169C NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 489 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 AGGTCCATGCCGCCCAGAATC 0.667000 3 2 0.00909568 0.00946511 1 1 0 NISCH 11188 broad.mit.edu 37 3 52523629 52523629 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:52523629C>T ENST00000345716.4 + 17 3525 c.3391C>T c.(3391-3393)Ctc>Ttc p.L1131F NISCH_ENST00000479054.1_Missense_Mutation_p.L1131F NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 1131 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CTGCCCGTCGCTCCGGCACGT 0.682000 38 18 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65413416 65413416 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:65413416C>A ENST00000519389.1 + 8 1646 c.1467C>A c.(1465-1467)gcC>gcA p.A489A HEPH_ENST00000441993.2_Silent_p.A438A|HEPH_ENST00000336279.5_Silent_p.A168A|HEPH_ENST00000343002.2_Silent_p.A435A|HEPH_ENST00000419594.1_Silent_p.A438A|HEPH_ENST00000374727.3_Silent_p.A438A Q9BQS7 HEPH_HUMAN hephaestin 435 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GATATGAAGCCTTTCAAGATG 0.373000 11 2 0.00829132 0.0086828 1 1 0 CUX1 1523 broad.mit.edu 37 7 101843431 101843431 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:101843431G>T ENST00000360264.3 + 17 2094 c.2074G>T c.(2074-2076)Gag>Tag p.E692* CUX1_ENST00000292535.7_Nonsense_Mutation_p.E681*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E659*|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E579*|CUX1_ENST00000560541.1_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 681 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AGCCAAGAGGGAGCTCCAAGT 0.493000 15 51 1.15088e-07 1.39837e-07 1 1 0 USP38 84640 broad.mit.edu 37 4 144135557 144135557 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:144135557G>T ENST00000307017.4 + 9 2934 c.2428G>T c.(2428-2430)Gat>Tat p.D810Y USP38_ENST00000510377.1_Missense_Mutation_p.D810Y NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 810 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) TTGGTCTGTAGATGTTGACTT 0.378000 43 70 1.15183e-24 1.91243e-24 1 1 0 TG 7038 broad.mit.edu 37 8 133899670 133899670 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:133899670C>T ENST00000220616.4 + 9 2093 c.2053C>T c.(2053-2055)Cct>Tct p.P685S TG_ENST00000377869.1_Missense_Mutation_p.P685S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 685 Thyroglobulin type-1 6. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTTGTTTGTCCCTGCTTGTAC 0.557000 64 32 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155148465 155148465 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:155148465G>T ENST00000392451.2 + 3 510 c.427G>T c.(427-429)Ggt>Tgt p.G143C TRIM46_ENST00000334634.4_Missense_Mutation_p.G143C|TRIM46_ENST00000543729.1_Missense_Mutation_p.G150C|TRIM46_ENST00000368383.3_Missense_Mutation_p.G143C|TRIM46_ENST00000368382.1_Missense_Mutation_p.G120C|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.G17C|TRIM46_ENST00000368385.4_Missense_Mutation_p.G143C Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 143 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGGGGAGCGGGGTCTGGCAGG 0.617000 106 253 1.32035e-51 2.4742e-51 1 1 0 LAMA5 3911 broad.mit.edu 37 20 60900455 60900455 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:60900455C>A ENST00000252999.3 - 41 5512 c.5446G>T c.(5446-5448)Gcc>Tcc p.A1816S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1816 Laminin IV type A. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTGGGCTGGCCACCTCCAGT 0.662000 9 13 0.000274275 0.000301459 1 1 0 GRM6 2916 broad.mit.edu 37 5 178413298 178413298 + Missense_Mutation SNP G G A rs140491408 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:178413298G>A ENST00000231188.5 - 8 2135 c.1957C>T c.(1957-1959)Cgc>Tgc p.R653C GRM6_ENST00000517717.1_Missense_Mutation_p.R653C|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 653 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|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;0.245) AAGAGCCTGCGGGCGGCACAG 0.642000 3 18 0 0 1 0 0 RFTN2 130132 broad.mit.edu 37 2 198436807 198436807 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:198436807A>G ENST00000295049.3 - 9 1967 c.1431T>C c.(1429-1431)agT>agC p.S477S NM_144629.2 NP_653230.2 Q52LD8 RFTN2_HUMAN raftlin family member 2 477 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 GGACGTTGTCACTGCTGCTGA 0.557000 31 49 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202807 140202807 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140202807G>T ENST00000529859.1 + 1 1447 c.1447G>T c.(1447-1449)Gcg>Tcg p.A483S PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A483S|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A483S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACGCGGACGCGCAGGAGAA 0.667000 74 17 5.32961e-40 9.69376e-40 1 1 0 RTN4RL1 146760 broad.mit.edu 37 17 1840378 1840378 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:1840378G>A ENST00000331238.5 - 2 756 c.738C>T c.(736-738)gcC>gcT p.A246A NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 246 axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 GGAACTCCAGGGCCCCCAGCG 0.672000 6 3 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109680336 109680336 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:109680336G>T ENST00000338432.7 + 37 5236 c.5117G>T c.(5116-5118)cGa>cTa p.R1706L ACACB_ENST00000377854.5_Missense_Mutation_p.R1636L|ACACB_ENST00000543201.1_Missense_Mutation_p.R372L|ACACB_ENST00000377848.3_Missense_Mutation_p.R1706L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1706 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CAGGCCAAGCGATTCCAGGCC 0.587000 26 48 2.44723e-14 3.46342e-14 1 1 0 MRGPRE 116534 broad.mit.edu 37 11 3249999 3249999 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:3249999C>A ENST00000389832.5 - 2 337 c.31G>T c.(31-33)Gtg>Ttg p.V11L AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.V10L Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 10 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) GCGGCCCCCACGTGCTGTCCA 0.667000 9 18 3.86212e-05 4.35441e-05 1 1 0 COBL 23242 broad.mit.edu 37 7 51287547 51287547 + Missense_Mutation SNP C C A rs149804009 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:51287547C>A ENST00000395542.2 - 2 320 c.136G>T c.(136-138)Ggg>Tgg p.G46W COBL_ENST00000441453.1_Missense_Mutation_p.G46W|COBL_ENST00000395540.2_Missense_Mutation_p.G46W|COBL_ENST00000265136.7_Missense_Mutation_p.G46W O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 46 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TGCTGCGACCCGAGGGCCCCA 0.622000 13 75 5.50884e-06 6.34584e-06 1 1 0 MAP3K14 9020 broad.mit.edu 37 17 43351872 43351872 + RNA SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:43351872C>G ENST00000344686.2 - 0 1484 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AGGCCCTTCTCTCACAGCTCC 0.557000 30 19 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100518297 100518297 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:100518297A>T ENST00000457717.1 + 9 1239 c.983A>T c.(982-984)aAc>aTc p.N328I MTTP_ENST00000511045.1_Missense_Mutation_p.N355I|MTTP_ENST00000265517.5_Missense_Mutation_p.N328I|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 328 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GCTGTCAGAAACTTCCTGGCC 0.478000 34 44 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70070470 70070470 + Translation_Start_Site SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:70070470A>T ENST00000325845.7 - 0 425 PDXDC2P_ENST00000531894.1_RNA breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 TTGTTCTCCAATATTTTGGAT 0.363000 15 92 0 0 1 0 0 MSRA 4482 broad.mit.edu 37 8 10102718 10102718 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:10102718A>G ENST00000528246.1 + 4 741 c.118A>G c.(118-120)Aaa>Gaa p.K40E MSRA_ENST00000518255.1_Missense_Mutation_p.K106E|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000317173.4_Missense_Mutation_p.K106E|MSRA_ENST00000521209.2_Missense_Mutation_p.K40E|MSRA_ENST00000382490.5_Missense_Mutation_p.K63E NM_001199729.1 NP_001186658.1 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A 106 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) TCCTACTTATAAAGAAGTCTG 0.418000 24 49 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19389226 19389226 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:19389226G>C ENST00000328405.2 + 5 846 c.580G>C c.(580-582)Gta>Cta p.V194L KCNH8_ENST00000475063.1_3'UTR NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 194 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GAATGTTTTTGTAGATAAACC 0.368000 47 18 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820265 35820265 + Silent SNP C C T rs5928990 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:35820265C>T ENST00000399992.1 + 3 147 c.48C>T c.(46-48)tgC>tgT p.C16C MAGEB16_ENST00000399985.1_5'UTR|MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR A2A368 MAGBG_HUMAN melanoma antigen family B, 16 0 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TTCTTCATTGCCTGCCCTCCT 0.522000 3 13 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1523390 1523390 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:1523390C>A ENST00000389470.4 - 27 4014 c.4015G>T c.(4015-4017)Ggc>Tgc p.G1339C INTS1_ENST00000404767.3_Missense_Mutation_p.G1177C Q8N201 INT1_HUMAN integrator complex subunit 1 1177 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CGAGGCGGGCCCAGCGTCAGC 0.677000 16 39 1.37285e-15 1.98257e-15 1 1 0 ECEL1 9427 broad.mit.edu 37 2 233350867 233350867 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:233350867G>T ENST00000304546.1 - 2 707 c.497C>A c.(496-498)gCg>gAg p.A166E ECEL1_ENST00000409941.1_Missense_Mutation_p.A166E NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 166 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) cccgggccgcgccAGCAGGCG 0.731000 4 4 0.00024832 0.000274352 1 1 0 CACNA1I 8911 broad.mit.edu 37 22 40055065 40055065 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:40055065C>A ENST00000336649.4 + 15 2292 c.2292C>A c.(2290-2292)acC>acA p.T764T CACNA1I_ENST00000404898.1_Silent_p.T723T|CACNA1I_ENST00000407673.1_Silent_p.T723T|CACNA1I_ENST00000400164.3_Silent_p.T723T|CACNA1I_ENST00000402142.3_Silent_p.T758T|CACNA1I_ENST00000401624.1_Silent_p.T758T Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 758 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCATGAAGACCATGGACAACG 0.632000 23 4 7.92952e-12 1.06636e-11 1 1 0 HK1 3098 broad.mit.edu 37 10 71158457 71158457 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:71158457A>T ENST00000448642.2 + 22 2976 c.2587A>T c.(2587-2589)Agg>Tgg p.R863W HK1_ENST00000360289.2_Missense_Mutation_p.R816W|HK1_ENST00000359426.6_Missense_Mutation_p.R828W|HK1_ENST00000404387.2_Missense_Mutation_p.R832W|HK1_ENST00000298649.3_Missense_Mutation_p.R827W P19367 HXK1_HUMAN hexokinase 1 828 Catalytic.|Glucose-6-phosphate 2 binding. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 GGTGGTGTCCAGGAGGGCCGC 0.587000 23 19 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161519452 161519452 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:161519452G>C ENST00000392142.4 + 17 3815 c.3667G>C c.(3667-3669)Gat>Cat p.D1223H MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D1219H|MAP3K4_ENST00000348824.7_Intron NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1223 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CAGTGCCCATGATACCAGGTA 0.597000 46 54 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101520708 101520708 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:101520708C>A ENST00000392979.3 + 26 2984 c.2623C>A c.(2623-2625)Cca>Aca p.P875T ANO4_ENST00000392977.3_Missense_Mutation_p.P910T|ANO4_ENST00000550015.1_Missense_Mutation_p.P430T|ANO4_ENST00000299222.9_Missense_Mutation_p.P430T NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 910 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CCCAGACCTCCCAAAAGACCT 0.443000 HNSCC(74;0.22) 21 28 1.96292e-10 2.56544e-10 1 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90500214 90500214 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:90500214C>A ENST00000325643.5 + 4 878 c.812C>A c.(811-813)aCa>aAa p.T271K NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 TGTGGCTCCACAACATGCCCC 0.632000 12 20 1.00905e-13 1.40661e-13 1 1 0 ANKRD36 375248 broad.mit.edu 37 2 97875437 97875437 + Silent SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:97875437A>T ENST00000420699.2 + 55 3529 c.3285A>T c.(3283-3285)ccA>ccT p.P1095P ANKRD36_ENST00000461153.2_Silent_p.P1095P NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 1095 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 GGAAAAAACCAGCCTTGAAGG 0.333000 9 65 0 0 1 0 0 RNF144A 9781 broad.mit.edu 37 2 7164644 7164644 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:7164644G>T ENST00000320892.6 + 7 1096 c.654G>T c.(652-654)ctG>ctT p.L218L RNF144A_ENST00000467276.1_3'UTR NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 218 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) TGGAGTCTCTGGACGTGAGTA 0.512000 14 50 2.32078e-09 2.96279e-09 1 1 0 SLC35F1 222553 broad.mit.edu 37 6 118556735 118556735 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:118556735T>C ENST00000360388.4 + 3 614 c.413T>C c.(412-414)aTa>aCa p.I138T NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 138 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TTGGGACTCATAGACCTGGAA 0.433000 10 43 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38189015 38189015 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:38189015A>G ENST00000317025.8 - 5 1516 c.999T>C c.(997-999)caT>caC p.H333H WHSC1L1_ENST00000527502.1_Silent_p.H333H|WHSC1L1_ENST00000433384.2_Silent_p.H333H|WHSC1L1_ENST00000316985.3_Silent_p.H333H NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 333 PWWP 1. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CATACTGTTTATGACCTTTAT 0.398000 T NUP98 AML 27 22 0 0 1 0 0 LCE1D 353134 broad.mit.edu 37 1 152770507 152770507 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:152770507C>A ENST00000326233.6 + 2 280 c.237C>A c.(235-237)caC>caA p.H79Q NM_178352.2 NP_848129.1 Q5T752 LCE1D_HUMAN late cornified envelope 1D 79 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm large_intestine(1) 1 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACAGGCGCCACAGGTCCCACC 0.711000 26 47 3.6726e-16 5.36626e-16 1 1 0 RSPH3 83861 broad.mit.edu 37 6 159403692 159403692 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:159403692G>A ENST00000367069.2 - 5 1157 c.521C>T c.(520-522)cCa>cTa p.P174L RSPH3_ENST00000297262.3_Missense_Mutation_p.P220L|RSPH3_ENST00000252655.1_Missense_Mutation_p.P316L|RSPH3_ENST00000449822.1_Missense_Mutation_p.P78L Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 316 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) TTCTAACACTGGTTTAACTTC 0.358000 17 19 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319642 21319642 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:21319642G>T ENST00000583088.1 + 3 1883 c.988G>T c.(988-990)Gtg>Ttg p.V330L KCNJ12_ENST00000331718.5_Missense_Mutation_p.V330L NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CTTTGAGCCCGTGCTCTTCGA 0.592000 Prostate(3;0.18) 16 144 4.7546e-09 6.01818e-09 1 1 0 NEFL 4747 broad.mit.edu 37 8 24813270 24813270 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:24813270G>T ENST00000221169.5 - 0 1354 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GCGGCGGAAAGGTCGGGCTTG 0.587000 17 12 8.60227e-14 1.20254e-13 1 1 0 MED14 9282 broad.mit.edu 37 X 40531144 40531144 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:40531144C>A ENST00000324817.1 - 23 3220 c.3102G>T c.(3100-3102)caG>caT p.Q1034H NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 1034 Pro-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTGAGGGAGACTGATTGACTG 0.398000 5 44 0.000602214 0.000653205 1 1 0 NOTCH4 4855 broad.mit.edu 37 6 32187964 32187964 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:32187964C>A ENST00000375023.3 - 7 1395 c.1257G>T c.(1255-1257)ctG>ctT p.L419L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 419 EGF-like 10. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CAGGCTGACACAGGCAGAGTG 0.617000 69 12 2.42712e-22 3.90336e-22 1 1 0 MYH7 4625 broad.mit.edu 37 14 23902777 23902777 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:23902777C>A ENST00000355349.3 - 3 327 c.165G>T c.(163-165)gaG>gaT p.E55D NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 55 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTTTGCCACCCTCTCGAGACA 0.567000 40 72 1.15505e-17 1.72676e-17 1 1 0 MYBPC2 4606 broad.mit.edu 37 19 50939300 50939300 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:50939300C>A ENST00000357701.5 + 4 279 c.228C>A c.(226-228)aaC>aaA p.N76K NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 76 Ig-like C2-type 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CCAAGGTGAACGGGAAGGAGC 0.602000 4 0 0.150653 0.152397 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168104334 168104334 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:168104334T>A ENST00000409195.1 + 9 6521 c.6432T>A c.(6430-6432)ccT>ccA p.P2144P XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P1922P|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.P2144P|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1969 Pro-rich. actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAAAGAGTCCTAAAAAGACCA 0.408000 19 72 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280110 39280110 + Nonsense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:39280110G>A ENST00000394014.1 - 1 309 c.265C>T c.(265-267)Cag>Tag p.Q89* NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 89 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACTGGGGTCTGCAG 0.677000 43 58 0 0 1 0 0 PLD4 122618 broad.mit.edu 37 14 105397112 105397112 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:105397112A>T ENST00000540372.1 + 7 964 c.772A>T c.(772-774)Agc>Tgc p.S258C PLD4_ENST00000392593.4_Missense_Mutation_p.S251C Q96BZ4 PLD4_HUMAN phospholipase D family, member 4 251 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) CTATAACTGCAGCCACCTGGC 0.597000 36 153 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215848574 215848574 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:215848574C>A ENST00000272895.7 - 29 4398 c.4179G>T c.(4177-4179)ggG>ggT p.G1393G ABCA12_ENST00000389661.4_Silent_p.G1075G NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1393 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CCCCAAACAGCCCAGTTAACA 0.403000 28 38 2.44723e-14 3.46342e-14 1 1 0 ANKRD33 341405 broad.mit.edu 37 12 52282556 52282556 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:52282556G>T ENST00000301190.6 + 2 577 c.350G>T c.(349-351)gGt>gTt p.G117V ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_5'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 177 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) ATACTGGATGGTGGGGTCTCC 0.642000 22 36 6.44725e-10 8.36005e-10 1 1 0 PCDHB1 29930 broad.mit.edu 37 5 140433353 140433353 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140433353T>C ENST00000306549.3 + 1 2375 c.2298T>C c.(2296-2298)agT>agC p.S766S NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 766 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGTAATAGTGAGTTTCGCT 0.463000 72 24 0 0 1 0 0 PANK1 53354 broad.mit.edu 37 10 91359245 91359245 + Silent SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:91359245C>G ENST00000307534.4 - 3 1229 c.1074G>C c.(1072-1074)ctG>ctC p.L358L PANK1_ENST00000342512.3_Silent_p.L133L|PANK1_ENST00000322191.6_Silent_p.L133L|PANK1_ENST00000371774.2_Silent_p.L160L NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 358 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity p.L358L(1) cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) CCAGTTTATGCAGCTGCAGGT 0.428000 44 23 0 0 1 0 0 UBE2Q1 55585 broad.mit.edu 37 1 154525295 154525295 + Splice_Site SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:154525295C>T ENST00000292211.4 - 6 810 c.729_splice c.e6-1 p.G244_splice UBE2Q1_ENST00000497453.1_5'UTR NM_017582.6 NP_060052.3 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q family member 1 244 ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AGACACTGCACCCTGTGAGGG 0.532000 28 83 0 0 1 0 0 GOT1L1 137362 broad.mit.edu 37 8 37795163 37795163 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:37795163A>G ENST00000307599.4 - 3 501 c.402T>C c.(400-402)tcT>tcC p.S134S NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 134 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) AACCTTTTTGAGAAGAGATGA 0.483000 7 6 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41160309 41160309 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:41160309A>C ENST00000263413.3 - 11 1883 c.1619T>G c.(1618-1620)cTg>cGg p.L540R C6_ENST00000337836.5_Missense_Mutation_p.L540R NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 540 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACACACACACAGACATTCAGT 0.468000 52 72 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76755282 76755282 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:76755282C>A ENST00000536229.3 + 2 3385 c.2676C>A c.(2674-2676)ggC>ggA p.G892G SALL3_ENST00000575389.2_Silent_p.G1025G|SALL3_ENST00000537592.2_Silent_p.G1097G Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1097 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TGGGCCCGGGCCTGGCGCCCA 0.736000 5 4 0.014758 0.0152718 1 1 0 OR7G2 390882 broad.mit.edu 37 19 9213344 9213344 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:9213344G>T ENST00000305456.2 - 1 638 c.639C>A c.(637-639)acC>acA p.T213T NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 TATTGATGAGGGTGTCTGAAC 0.463000 64 16 5.82218e-30 1.01072e-29 1 1 0 KLK3 354 broad.mit.edu 37 19 51361739 51361739 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:51361739G>T ENST00000360617.3 + 4 518 c.518G>T c.(517-519)tGt>tTt p.C173F KLK3_ENST00000326003.2_Missense_Mutation_p.C173F|KLK3_ENST00000595952.1_Missense_Mutation_p.C130F|KLK3_ENST00000593997.1_Missense_Mutation_p.C173F|KLK3_ENST00000597483.1_Missense_Mutation_p.C130F P07288 KLK3_HUMAN kallikrein-related peptidase 3 173 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) AAACTTCAGTGTGTGGACCTC 0.552000 117 13 7.82945e-61 1.484e-60 1 1 0 CDH7 1005 broad.mit.edu 37 18 63547683 63547683 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:63547683C>A ENST00000397968.2 + 12 2337 c.1911C>A c.(1909-1911)ccC>ccA p.P637P CDH7_ENST00000323011.3_Silent_p.P637P NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 637 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AAAAAGAGCCCCTTATTTTTG 0.458000 5 28 1 1 1 1 0 MALT1 10892 broad.mit.edu 37 18 56377243 56377243 + Nonsense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:56377243C>G ENST00000348428.3 + 6 1122 c.864C>G c.(862-864)taC>taG p.Y288* RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Nonsense_Mutation_p.Y288* NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 288 Ig-like C2-type 2. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 AAGGAACCTACTGGTGTCATG 0.363000 T BIRC3 MALT 42 39 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66467704 66467704 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:66467704C>A ENST00000273854.3 - 3 1165 c.565G>T c.(565-567)Ggt>Tgt p.G189C EPHA5_ENST00000432638.2_Missense_Mutation_p.G189C|EPHA5_ENST00000354839.4_Missense_Mutation_p.G189C|EPHA5_ENST00000511294.1_Missense_Mutation_p.G189C NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 189 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.G189S(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ACACGGTCACCAAGATCAAGT 0.393000 TSP Lung(17;0.13) 32 55 6.00712e-18 9.04416e-18 1 1 0 GAD2 2572 broad.mit.edu 37 10 26534849 26534849 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:26534849G>T ENST00000376261.3 + 8 1343 c.e8-1 GAD2_ENST00000259271.3_Splice_Site NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TTTTTTTACAGAGTCATTTTT 0.378000 5 18 0.00116845 0.00125275 1 1 0 GPR112 139378 broad.mit.edu 37 X 135430972 135430972 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:135430972A>C ENST00000394143.1 + 6 5398 c.5107A>C c.(5107-5109)Act>Cct p.T1703P GPR112_ENST00000370652.1_Missense_Mutation_p.T1703P|GPR112_ENST00000412101.1_Missense_Mutation_p.T1498P|GPR112_ENST00000394141.1_Missense_Mutation_p.T1498P|GPR112_ENST00000287534.4_Missense_Mutation_p.T1640P NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1703 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCTATCAGCAACTCAACAGTC 0.453000 45 89 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75658918 75658918 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:75658918C>A ENST00000565683.1 - 4 378 c.367G>T c.(367-369)Ggt>Tgt p.G123C MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000563622.1_Missense_Mutation_p.G123C|MAN2C1_ENST00000267978.5_Missense_Mutation_p.G123C|MAN2C1_ENST00000569482.1_Missense_Mutation_p.G123C NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 123 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 GTCTTCTCACCCTCTTTGGTT 0.562000 3 6 0.004672 0.00490296 1 1 0 TTN 7273 broad.mit.edu 37 2 179612967 179612967 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:179612967A>G ENST00000360870.5 - 46 14382 c.14160T>C c.(14158-14160)tcT>tcC p.S4720S TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 829 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGATTTAAGAGAAAGATCAG 0.333000 45 60 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11418941 11418941 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:11418941G>T ENST00000259089.4 + 11 1752 c.1160G>T c.(1159-1161)aGt>aTt p.S387I BLK_ENST00000529894.1_Missense_Mutation_p.S316I NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 387 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) ATCATCGACAGTGAATACACG 0.537000 4 17 1.23904e-05 1.41306e-05 1 1 0 SLC16A6 9120 broad.mit.edu 37 17 66267740 66267740 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:66267740G>T ENST00000327268.4 - 6 725 c.561C>A c.(559-561)ggC>ggA p.G187G ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.G187G NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 187 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) ACTGTAGTAGGCCCACGAAGA 0.453000 63 40 1.1362e-29 1.96782e-29 1 1 0 PCDHB8 56128 broad.mit.edu 37 5 140558223 140558223 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140558223G>T ENST00000239444.2 + 1 853 c.608G>T c.(607-609)cGa>cTa p.R203L NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 203 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGCTGGACCGAGAGGAAGAA 0.532000 61 166 2.73361e-28 4.67451e-28 1 1 0 CYP11B1 1584 broad.mit.edu 37 8 143956677 143956677 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:143956677C>A ENST00000292427.4 - 7 1205 c.1173G>T c.(1171-1173)gtG>gtT p.V391V CYP11B1_ENST00000517471.1_Silent_p.V391V|CYP11B1_ENST00000377675.3_Silent_p.V462V NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 391 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AGTTCTGAAGCACCAAGTCTG 0.612000 Familial Hyperaldosteronism type I 6 37 0.0215528 0.022195 1 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125686260 125686260 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:125686260A>G ENST00000371126.1 - 1 574 c.332T>C c.(331-333)gTg>gCg p.V111A NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 111 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GCCGCACACCACCTGCCTGGA 0.637000 44 10 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30936627 30936627 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:30936627C>A ENST00000355537.3 + 2 2305 c.2158C>A c.(2158-2160)Cca>Aca p.P720T NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 720 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCCCTCCTCGCCATCCTCCTC 0.667000 7 20 2.7689e-08 3.45183e-08 1 1 0 ADAD1 132612 broad.mit.edu 37 4 123329111 123329111 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:123329111G>T ENST00000296513.2 + 8 958 c.773G>T c.(772-774)aGc>aTc p.S258I ADAD1_ENST00000388725.2_Missense_Mutation_p.S240I|ADAD1_ENST00000388724.2_Missense_Mutation_p.S258I NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 258 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TACAATTACAGCCAGGACATT 0.393000 7 54 0.000157383 0.000174923 1 1 0 UBBP4 23666 broad.mit.edu 37 17 21731020 21731020 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:21731020G>T ENST00000584755.1 + 2 719 c.322G>T c.(322-324)Gat>Tat p.D108Y UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.D108Y endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 CAAGATCCAAGATAAAGAAGG 0.532000 34 33 5.8336e-16 8.47384e-16 1 1 0 CCDC132 55610 broad.mit.edu 37 7 92938212 92938212 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:92938212G>T ENST00000544910.1 + 20 1836 c.1616G>T c.(1615-1617)cGa>cTa p.R539L CCDC132_ENST00000535481.1_Missense_Mutation_p.R289L|CCDC132_ENST00000305866.5_Missense_Mutation_p.R569L|CCDC132_ENST00000317751.6_Missense_Mutation_p.R300L|CCDC132_ENST00000541136.1_Missense_Mutation_p.R380L NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 569 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GAACTCAAACGAGACTATGTG 0.373000 23 19 4.16121e-05 4.68807e-05 1 1 0 UBAP2L 9898 broad.mit.edu 37 1 154218751 154218751 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:154218751C>T ENST00000428931.1 + 11 1081 c.914C>T c.(913-915)tCt>tTt p.S305F UBAP2L_ENST00000361546.2_Missense_Mutation_p.S305F|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S305F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S316F NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 305 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTGGATCCGTCTCAGGCTCCT 0.478000 43 121 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73681072 73681072 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:73681072G>T ENST00000264448.6 + 8 7526 c.7415G>T c.(7414-7416)gGt>gTt p.G2472V ALMS1_ENST00000409009.1_Missense_Mutation_p.G2430V|ALMS1_ENST00000377715.1_Missense_Mutation_p.G2472V NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2472 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GATGGTGGTGGTAGCAGTGTA 0.428000 31 30 6.04164e-23 9.77983e-23 1 1 0 MDN1 23195 broad.mit.edu 37 6 90463860 90463860 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:90463860C>A ENST00000369393.3 - 21 3021 c.2906G>T c.(2905-2907)cGg>cTg p.R969L MDN1_ENST00000428876.1_Missense_Mutation_p.R969L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 969 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCGCAGGGCCCGGCACAGAGT 0.502000 26 30 1.5548e-18 2.35999e-18 1 1 0 RTBDN 83546 broad.mit.edu 37 19 12936646 12936646 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:12936646C>A ENST00000322912.5 - 7 977 c.660G>T c.(658-660)gcG>gcT p.A220A RTBDN_ENST00000592204.1_Silent_p.A198A|RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000458671.2_Silent_p.A188A|RTBDN_ENST00000393233.2_3'UTR|CTD-2265O21.3_ENST00000588469.1_RNA NM_031429.2 NP_113617.1 Q9BSG5 RTBDN_HUMAN retbindin 188 extracellular region kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 GACGAGGTACCGCGGAGATGG 0.697000 OREG0025275 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 6 0.00400662 0.00423159 1 1 0 AGPS 8540 broad.mit.edu 37 2 178257522 178257522 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:178257522C>A ENST00000264167.4 + 1 151 c.5C>A c.(4-6)gCg>gAg p.A2E AGPS_ENST00000409888.1_Missense_Mutation_p.A2E NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 2 Poly-Ala. ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) GTAGCCATGGCGGAGGCGGCG 0.771000 3 2 1 1 1 1 0 SHANK3 85358 broad.mit.edu 37 22 51143400 51143400 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:51143400G>C ENST00000414786.2 + 16 2090 c.1863G>C c.(1861-1863)ggG>ggC p.G621G SHANK3_ENST00000445220.2_Silent_p.G636G|SHANK3_ENST00000262795.3_Silent_p.G651G F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 651 p.G651G(2) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) AGGTGAACGGGGTGAACGTGG 0.632000 22 41 0 0 1 0 0 SRP72 6731 broad.mit.edu 37 4 57335835 57335835 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:57335835A>G ENST00000342756.5 + 2 847 c.126A>G c.(124-126)aaA>aaG p.K42K SRP72_ENST00000510663.1_Silent_p.K42K|SRP72_ENST00000504757.1_Silent_p.K42K NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 42 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) AGATCAACAAAGATGACGTAA 0.363000 6 79 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49933244 49933244 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:49933244G>A ENST00000257981.6 + 1 305 c.45G>A c.(43-45)ctG>ctA p.L15L NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 15 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 ACACCTTCCTGGACACCATCG 0.751000 7 9 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121461868 121461868 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:121461868C>G ENST00000257570.5 - 5 1242 c.972G>C c.(970-972)caG>caC p.Q324H OASL_ENST00000339275.5_Missense_Mutation_p.E244Q NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 324 Q -> L (in Ref. 2; AAD28541). interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGGAGGCCCTCTGAGCAACGA 0.582000 22 37 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9928001 9928001 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:9928001T>A ENST00000396573.2 - 9 2047 c.1738A>T c.(1738-1740)Agc>Tgc p.S580C GRIN2A_ENST00000535259.1_Missense_Mutation_p.S423C|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S580C|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S580C|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S580C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S580C NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 580 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCAACAGGGCTGAAGTATTCA 0.398000 55 69 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825641 4825641 + Silent SNP G G A rs75367908 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:4825641G>A ENST00000380382.1 - 1 206 c.207C>T c.(205-207)tgC>tgT p.C69C MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTGGGAACGCAATCTACTC 0.453000 20 45 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6684077 6684077 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:6684077G>C ENST00000321535.4 + 2 1020 c.890G>C c.(889-891)cGc>cCc p.R297P NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 297 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 AAGTACGAACGCTTGGCCCGA 0.527000 27 11 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23174526 23174526 + Missense_Mutation SNP G G T rs142665521 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:23174526G>T ENST00000389131.3 - 9 1941 c.1572C>A c.(1570-1572)gaC>gaA p.D524E NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 524 SRCR 4. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CGTCCTCCCCGTCGTGGCGGC 0.652000 24 38 1.96895e-08 2.46077e-08 1 1 0 VAV2 7410 broad.mit.edu 37 9 136650949 136650949 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:136650949C>A ENST00000371851.1 - 15 1776 c.1451G>T c.(1450-1452)tGc>tTc p.C484F VAV2_ENST00000371850.3_Missense_Mutation_p.C494F|VAV2_ENST00000406606.3_Missense_Mutation_p.C484F P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 494 PH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) TTCTGTTTTGCAGAAAAACTG 0.532000 5 17 0.217242 0.218566 1 1 0 HTR1E 3354 broad.mit.edu 37 6 87725863 87725863 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:87725863G>T ENST00000305344.4 + 2 1514 c.811G>T c.(811-813)Gat>Tat p.D271Y HTR1E_ENST00000369584.1_Missense_Mutation_p.D271Y NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 271 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CTTCGACAATGATCTAGATCA 0.512000 40 107 2.87052e-16 4.2067e-16 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129581891 129581891 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:129581891A>G ENST00000421865.2 + 15 2181 c.2132A>G c.(2131-2133)tAt>tGt p.Y711C NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 711 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCTGTCTCCTATCCTACTGAT 0.438000 37 81 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92592414 92592414 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:92592414G>C ENST00000298047.6 + 20 11601 c.11584G>C c.(11584-11586)Gct>Cct p.A3862P FAT3_ENST00000525166.1_Missense_Mutation_p.A3712P|FAT3_ENST00000409404.2_Missense_Mutation_p.A3862P|FAT3_ENST00000533797.1_Missense_Mutation_p.A197P Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3862 Laminin G-like. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTCAAACTAGCTCTGCGTCT 0.388000 TCGA Ovarian(4;0.039) 23 18 0 0 1 0 0 SAMD4A 23034 broad.mit.edu 37 14 55203962 55203962 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:55203962C>A ENST00000392067.3 + 3 936 c.936C>A c.(934-936)acC>acA p.T312T SAMD4A_ENST00000357634.3_Silent_p.T311T|SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000554335.1_Silent_p.T312T NM_015589.5 NP_056404.4 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 312 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 AAGATCAGACCACTGCTCGTA 0.517000 56 72 2.17126e-26 3.6623e-26 1 1 0 ZNF607 84775 broad.mit.edu 37 19 38200657 38200657 + Missense_Mutation SNP C C A rs142136563 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:38200657C>A ENST00000355202.4 - 3 671 c.76G>T c.(76-78)Gtt>Ttt p.V26F CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.V26F|ZNF607_ENST00000395835.3_Missense_Mutation_p.V26F NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GTCTTCTGAACCAGGCTGAGA 0.413000 32 70 5.45727e-16 7.93493e-16 1 1 0 PRTG 283659 broad.mit.edu 37 15 55931849 55931849 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:55931849T>A ENST00000389286.4 - 13 2362 c.2315A>T c.(2314-2316)tAc>tTc p.Y772F NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 772 Fibronectin type-III 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) CGTTTGAAGGTACAGAACCAA 0.488000 64 11 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24911637 24911637 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:24911637C>G ENST00000313367.2 - 3 599 c.148G>C c.(148-150)Gag>Cag p.E50Q OSBPL3_ENST00000396431.1_Missense_Mutation_p.E50Q|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E50Q|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E50Q|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E50Q|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E50Q|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E50Q NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 50 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 ACTGGTGGCTCCTGGGTGTAA 0.443000 25 62 0 0 1 0 0 SOST 50964 broad.mit.edu 37 17 41835995 41835995 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:41835995C>A ENST00000301691.2 - 1 161 c.115G>T c.(115-117)Gag>Tag p.E39* NM_025237.2 NP_079513.1 Q9BQB4 SOST_HUMAN sclerostin 39 negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway heparin binding|protein binding large_intestine(2)|lung(3)|prostate(1) 6 Breast(137;0.00725) UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741) TCTCCGAGCTCGGGGATGATT 0.632000 34 40 4.3181e-19 6.60834e-19 1 1 0 AXDND1 126859 broad.mit.edu 37 1 179460790 179460790 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:179460790C>A ENST00000367618.3 + 19 2596 c.2209C>A c.(2209-2211)Cat>Aat p.H737N NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 737 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TGCTGAGAAACATGATATAGG 0.413000 69 114 7.59065e-32 1.33804e-31 1 1 0 DPP6 1804 broad.mit.edu 37 7 154595626 154595626 + Missense_Mutation SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:154595626T>G ENST00000404039.1 + 14 1855 c.1268T>G c.(1267-1269)gTg>gGg p.V423G DPP6_ENST00000332007.3_Missense_Mutation_p.V425G|DPP6_ENST00000427557.1_Missense_Mutation_p.V380G|DPP6_ENST00000377770.3_Missense_Mutation_p.V487G NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 487 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GACTGGGACGTGACCAAGATC 0.547000 10 8 0 0 1 0 0 HENMT1 113802 broad.mit.edu 37 1 109191484 109191484 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:109191484C>A ENST00000370032.5 - 8 1306 c.886G>T c.(886-888)Gaa>Taa p.E296* HENMT1_ENST00000370031.1_Nonsense_Mutation_p.E327*|HENMT1_ENST00000402983.1_Nonsense_Mutation_p.E296* NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) 296 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 TCACCCCGTTCCCCAGCCTGT 0.507000 15 23 1.02788e-11 1.37731e-11 1 1 0 LAMTOR2 28956 broad.mit.edu 37 1 156027835 156027835 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:156027835G>T ENST00000368305.4 + 3 436 c.298G>T c.(298-300)Ggc>Tgc p.G100C LAMTOR2_ENST00000368302.3_Missense_Mutation_p.G100C|LAMTOR2_ENST00000368304.5_Intron NM_014017.3 NP_054736.1 Q9Y2Q5 LTOR2_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 100 cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosomal membrane|Ragulator complex breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 GGAGACCGTGGGCTTTGGAAT 0.572000 15 74 2.23348e-06 2.60515e-06 1 1 0 PAPPA 5069 broad.mit.edu 37 9 118989789 118989789 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:118989789C>T ENST00000328252.3 + 6 2560 c.2191C>T c.(2191-2193)Ccc>Tcc p.P731S PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 731 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTCCCCAATGCCCTGCAGCCC 0.537000 11 38 0 0 1 0 0 APOL1 8542 broad.mit.edu 37 22 36661455 36661455 + Silent SNP C C T rs150846072 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:36661455C>T ENST00000319136.4 + 7 888 c.621C>T c.(619-621)ctC>ctT p.L207L APOL1_ENST00000397279.4_Silent_p.L191L|APOL1_ENST00000397278.3_Silent_p.L191L|APOL1_ENST00000426053.1_Silent_p.L173L|APOL1_ENST00000347595.7_Silent_p.L70L|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000422706.1_Silent_p.L191L NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 191 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding p.I204fs*52(1)|p.L207L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 TCCTGACCCTCGTCGGCATGG 0.577000 8 114 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64597714 64597714 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:64597714C>A ENST00000342711.5 - 29 3318 c.3319G>T c.(3319-3321)Gcg>Tcg p.A1107S NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1107 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 GTGCCAAGCGCAAGTCGATCc 0.632000 5 6 0.184627 0.18613 1 1 0 AJUBA 84962 broad.mit.edu 37 14 23450492 23450492 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:23450492T>A ENST00000262713.2 - 1 1359 c.984A>T c.(982-984)ccA>ccT p.P328P RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Silent_p.P328P NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 328 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CCCTGGCCTCTGGCTCCCGCA 0.672000 44 51 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161494984 161494984 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:161494984C>A ENST00000309758.4 + 1 949 c.536C>A c.(535-537)aCg>aAg p.T179K NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 179 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) AATGAGCCCACGGCAGCTGCC 0.647000 25 33 2.44723e-14 3.46342e-14 1 1 0 C19orf57 79173 broad.mit.edu 37 19 14006295 14006295 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:14006295G>C ENST00000454313.1 - 3 154 c.96C>G c.(94-96)ccC>ccG p.P32P C19orf57_ENST00000346736.2_Silent_p.P32P|C19orf57_ENST00000591586.1_Silent_p.P32P|C19orf57_ENST00000586783.1_Silent_p.P32P Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 32 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) TGGAACTCTGGGGGTCCCCAT 0.552000 140 42 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 105970514 105970514 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:105970514G>T ENST00000255499.2 + 1 621 c.371G>T c.(370-372)gGg>gTg p.G124V RNF128_ENST00000324342.3_Intron NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 124 PA. endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 CAACGCGGCGGGGGCTGCACC 0.607000 23 13 2.52088e-20 3.9349e-20 1 1 0 FBXW7 55294 broad.mit.edu 37 4 153245480 153245480 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:153245480C>A ENST00000281708.4 - 11 2940 c.1711G>T c.(1711-1713)Ggg>Tgg p.G571W FBXW7_ENST00000603548.1_Missense_Mutation_p.G571W|FBXW7_ENST00000603841.1_Missense_Mutation_p.G571W|FBXW7_ENST00000393956.3_Missense_Mutation_p.G395W|FBXW7_ENST00000296555.5_Missense_Mutation_p.G453W|FBXW7_ENST00000263981.5_Missense_Mutation_p.G491W NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 571 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|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATGCAATTCCCTGTCTCCACA 0.398000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 22 26 7.45023e-12 1.00372e-11 1 1 0 AHDC1 27245 broad.mit.edu 37 1 27877071 27877071 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:27877071G>A ENST00000374011.2 - 6 2524 c.1556C>T c.(1555-1557)cCg>cTg p.P519L AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.P519L NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 519 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CTTCAGCAGCGGGGTGGGCTC 0.607000 23 21 0 0 1 0 0 PSAPL1 768239 broad.mit.edu 37 4 7436163 7436163 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:7436163G>T ENST00000319098.4 - 1 537 c.444C>A c.(442-444)gcC>gcA p.A148A SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 148 sphingolipid metabolic process extracellular region|lysosome lung(4) 4 GCCTCAGGGTGGCCAGGTGCC 0.667000 4 7 0.150653 0.152397 1 1 0 B3GAT1 27087 broad.mit.edu 37 11 134252717 134252717 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:134252717T>A ENST00000524765.1 - 4 5349 c.805A>T c.(805-807)Agc>Tgc p.S269C B3GAT1_ENST00000312527.4_Missense_Mutation_p.S269C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.S282C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.S269C Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 269 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) TAGGCCTGGCTTCGCTGCAGA 0.587000 14 18 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94159551 94159551 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:94159551A>G ENST00000282020.4 + 8 1413 c.1155A>G c.(1153-1155)ctA>ctG p.L385L GRID2_ENST00000510992.1_Silent_p.L290L NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 385 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CTGGAGAGCTAGAATTTGGAG 0.378000 39 33 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179632615 179632615 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:179632615A>G ENST00000444136.1 + 16 2888 c.2638A>G c.(2638-2640)Agg>Ggg p.R880G TDRD5_ENST00000367614.1_Missense_Mutation_p.R826G|TDRD5_ENST00000294848.8_Missense_Mutation_p.R826G NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 852 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TGGCACAAACAGGACTCAAAA 0.383000 31 33 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 61734634 61734634 + Silent SNP C C T rs150368253 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:61734634C>T ENST00000474889.1 + 2 545 c.168C>T c.(166-168)ggC>ggT p.G56G PTPRG_ENST00000295874.10_Silent_p.G56G|PTPRG_ENST00000495879.1_3'UTR NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 56 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) AGGCTTCAGGCGACCCGTACT 0.532000 15 7 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52336197 52336197 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:52336197T>A ENST00000356297.4 - 14 1833 c.1733A>T c.(1732-1734)tAt>tTt p.Y578F PXDNL_ENST00000543296.1_Missense_Mutation_p.Y578F NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 578 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.Y578C(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CACACATTCATATCTTCCCTG 0.468000 20 9 0 0 1 0 0 CACTIN 58509 broad.mit.edu 37 19 3626627 3626627 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:3626627C>A ENST00000429344.2 - 1 186 c.134G>T c.(133-135)cGg>cTg p.R45L CACTIN_ENST00000221899.3_5'UTR|CACTIN_ENST00000248420.5_Missense_Mutation_p.R45L NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit CCGTCTGCGCCGTCCCTCGTC 0.756000 2 0 1 1 1 1 0 ZSCAN10 84891 broad.mit.edu 37 16 3139854 3139854 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:3139854G>T ENST00000252463.2 - 5 1503 c.1416C>A c.(1414-1416)tgC>tgA p.C472* ZSCAN10_ENST00000538082.2_Nonsense_Mutation_p.C390*|ZSCAN10_ENST00000575108.1_Nonsense_Mutation_p.C133* NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 472 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 AGGCCTTGCCGCAGTCGCTGC 0.736000 4 2 0.00909568 0.00946511 1 1 0 C20orf194 25943 broad.mit.edu 37 20 3251131 3251131 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:3251131T>C ENST00000252032.9 - 30 2795 c.2728A>G c.(2728-2730)Atc>Gtc p.I910V C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 910 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 GCAGCCCTGATGAGGCTCTGC 0.512000 14 37 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107080753 107080753 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:107080753G>C ENST00000392842.1 + 6 883 c.469G>C c.(469-471)Ggc>Cgc p.G157R RFX4_ENST00000229387.5_Missense_Mutation_p.G63R|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.G166R NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 157 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GAGTGAGACGGGCAAGAAAGA 0.473000 56 74 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70751764 70751764 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:70751764G>T ENST00000358731.4 + 1 323 c.60G>T c.(58-60)agG>agT p.R20S BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 20 Interaction with ZBTB43. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TAGGCGCCAGGGGCTCCACAG 0.697000 10 16 4.68919e-08 5.78268e-08 1 1 0 FBXW7 55294 broad.mit.edu 37 4 153303400 153303400 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:153303400C>G ENST00000296555.5 - 1 267 c.88G>C c.(88-90)Gtg>Ctg p.V30L FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000603841.1_Intron NM_001013415.1 NP_001013433.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 0 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|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATCTTCATCACAGTTTGATGT 0.383000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 19 50 0 0 1 0 0 TRPV1 7442 broad.mit.edu 37 17 3493205 3493205 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:3493205G>A ENST00000174621.6 - 5 1223 c.934C>T c.(934-936)Ctg>Ttg p.L312L SHPK_ENST00000572705.1_Silent_p.L314L|TRPV1_ENST00000399759.3_Silent_p.L314L|TRPV1_ENST00000576351.1_Silent_p.L314L|TRPV1_ENST00000310522.5_Silent_p.L314L|TRPV1_ENST00000399756.4_Silent_p.L314L|TRPV1_ENST00000571088.1_Silent_p.L314L|TRPV1_ENST00000425167.2_Silent_p.L314L Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 314 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CCCAGCATCAGAATCTCATTG 0.607000 5 2 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100453822 100453822 + Splice_Site SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:100453822C>T ENST00000279907.7 - 13 1762 c.e13-1 UHRF1BP1L_ENST00000545232.2_Splice_Site NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GGAGATGGAACTGTGGAGACA 0.323000 26 28 0 0 1 0 0 LOC100505782 100505782 broad.mit.edu 37 17 39567645 39567645 + RNA SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:39567645C>T ENST00000432258.1 + 0 2103 AC003958.2_ENST00000430006.1_RNA CTGGTAGTTTCGGCACACGCT 0.572000 14 13 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73915849 73915849 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:73915849C>G ENST00000586717.1 - 19 2269 c.1996G>C c.(1996-1998)Gaa>Caa p.E666Q FBF1_ENST00000389570.4_Missense_Mutation_p.E666Q|FBF1_ENST00000319129.5_Missense_Mutation_p.E665Q A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 665 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 CGGGCCTGTTCGGCCTCCTGG 0.637000 15 60 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31142903 31142903 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:31142903A>T ENST00000304166.4 + 14 1388 c.1099A>T c.(1099-1101)Aca>Tca p.T367S ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.T395S|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.T423S|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.T346S NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 367 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 AATCCACTACACAGTATTTGC 0.572000 13 164 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44280783 44280783 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:44280783C>T ENST00000262888.3 - 2 560 c.165G>A c.(163-165)gcG>gcA p.A55A NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 55 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) ACAGGTAGAGCGCCCACTGTC 0.532000 6 30 0 0 1 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131559 142131559 + RNA SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:142131559A>C ENST00000390375.2 - 0 236 TAATACTGAAAGATAAACTGG 0.512000 67 63 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71009791 71009791 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:71009791A>T ENST00000357250.6 - 4 412 c.254T>A c.(253-255)gTg>gAg p.V85E COL9A1_ENST00000370496.3_Missense_Mutation_p.V85E NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 85 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CTTGTAAGCCACCTGCAATGT 0.368000 13 30 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57193805 57193805 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:57193805T>A ENST00000331162.4 - 4 452 c.182A>T c.(181-183)aAg>aTg p.K61M NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CAAGTCTGGCTTAGAGACAGC 0.353000 44 129 0 0 1 0 0 FDFT1 2222 broad.mit.edu 37 8 11667314 11667314 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:11667314G>A ENST00000220584.4 + 3 558 c.336G>A c.(334-336)atG>atA p.M112I FDFT1_ENST00000530664.1_Missense_Mutation_p.M48I|FDFT1_ENST00000528643.1_Missense_Mutation_p.M27I|FDFT1_ENST00000525900.1_Missense_Mutation_p.M105I|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000538689.1_Start_Codon_SNP_p.M1I|FDFT1_ENST00000525777.1_Missense_Mutation_p.M27I|FDFT1_ENST00000528812.1_Missense_Mutation_p.M48I|FDFT1_ENST00000443614.2_Missense_Mutation_p.M112I NM_004462.3 NP_004453.3 P37268 FDFT_HUMAN farnesyl-diphosphate farnesyltransferase 1 112 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2) 12 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) GGCGGTTCATGGAGAGCAAGG 0.498000 14 33 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142569573 142569573 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:142569573A>T ENST00000359396.3 - 15 2310 c.2065T>A c.(2065-2067)Tcc>Acc p.S689T NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 689 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CTGCTGCGGGAGGTACTTCGA 0.577000 33 52 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92671693 92671693 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:92671693G>A ENST00000318445.6 + 7 1700 c.1486G>A c.(1486-1488)Gcc>Acc p.A496T SLCO3A1_ENST00000424469.2_Missense_Mutation_p.A496T|SLCO3A1_ENST00000555549.1_3'UTR NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 496 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CTACCTGTCTGCCTGCTTTGC 0.552000 30 36 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34806022 34806022 + Silent SNP C C A rs141701592 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:34806022C>A ENST00000374789.3 - 3 613 c.288G>T c.(286-288)acG>acT p.T96T PARD3_ENST00000374788.3_Silent_p.T96T|PARD3_ENST00000350537.4_Silent_p.T96T|PARD3_ENST00000374794.3_Silent_p.T96T|PARD3_ENST00000340077.5_Silent_p.T96T|PARD3_ENST00000374773.1_Silent_p.T96T|PARD3_ENST00000545693.1_Silent_p.T96T|PARD3_ENST00000374790.3_Silent_p.T96T|PARD3_ENST00000545260.1_Silent_p.T96T|PARD3_ENST00000374776.1_Silent_p.T96T|PARD3_ENST00000346874.4_Silent_p.T96T NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 96 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TCTGGGTACCCGTGGAACTGG 0.468000 13 55 1.05317e-09 1.35382e-09 1 1 0 SBSN 374897 broad.mit.edu 37 19 36018920 36018920 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:36018920C>G ENST00000452271.2 - 1 292 c.264G>C c.(262-264)caG>caC p.Q88H SBSN_ENST00000518157.1_Missense_Mutation_p.Q88H NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 88 Ala/Gly/His-rich. extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GGTTGAGCCCCTGGACGCCTT 0.547000 181 201 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716728 13716728 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:13716728G>T ENST00000279593.3 - 13 3653 c.3444C>A c.(3442-3444)caC>caA p.H1148Q NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1148 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCAGGTCTACGTGCTCCCAGT 0.577000 22 6 5.26018e-13 7.27128e-13 1 1 0 OR4A5 81318 broad.mit.edu 37 11 51412048 51412048 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:51412048C>T ENST00000319760.6 - 1 400 c.348G>A c.(346-348)atG>atA p.M116I NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) GATCACAGGCCATCACCACCA 0.468000 21 19 0 0 1 0 0 USP48 84196 broad.mit.edu 37 1 22028008 22028008 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:22028008C>A ENST00000308271.9 - 22 3358 c.2710G>T c.(2710-2712)Gat>Tat p.D904Y USP48_ENST00000400301.1_Missense_Mutation_p.D904Y|USP48_ENST00000529637.1_Missense_Mutation_p.D916Y|USP48_ENST00000374732.3_Missense_Mutation_p.D442Y NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 904 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) AAATCTGGATCTTTTTCTCCA 0.443000 12 35 0.00136819 0.00146269 1 1 0 CLTCL1 8218 broad.mit.edu 37 22 19183811 19183811 + Nonsense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:19183811C>T ENST00000263200.10 - 26 4229 c.4157G>A c.(4156-4158)tGg>tAg p.W1386* CLTCL1_ENST00000353891.5_Nonsense_Mutation_p.W1386*|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Nonsense_Mutation_p.W1386* NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1386 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) ACCCTCCTTCCAGGCCTCAGT 0.572000 T ? ALCL 28 26 0 0 1 0 0 NELFCD 51497 broad.mit.edu 37 20 57567018 57567018 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:57567018A>G ENST00000602795.1 + 10 1274 c.1226A>G c.(1225-1227)gAg>gGg p.E409G NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000344018.3_Missense_Mutation_p.E400G negative elongation factor complex member C/D TGTTGCAACGAGAACAAAGGG 0.418000 37 28 0 0 1 0 0 CLCA2 9635 broad.mit.edu 37 1 86919206 86919206 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:86919206T>A ENST00000370565.4 + 13 2472 c.2310T>A c.(2308-2310)atT>atA p.I770I CLCA2_ENST00000498802.1_3'UTR NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 770 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) GCAAAATTATTGACCTGGAAG 0.498000 32 43 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612319 53612319 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:53612319G>T ENST00000455735.2 - 7 1443 c.1123C>A c.(1123-1125)Cct>Act p.P375T ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.P375T|ZNF415_ENST00000421033.1_Missense_Mutation_p.P339T|ZNF415_ENST00000243643.4_Missense_Mutation_p.P327T|ZNF415_ENST00000500065.4_Missense_Mutation_p.P327T|ZNF415_ENST00000601493.1_Missense_Mutation_p.P97T|ZNF415_ENST00000440291.1_Missense_Mutation_p.P314T|ZNF415_ENST00000595193.1_3'UTR Q09FC8 ZN415_HUMAN zinc finger protein 415 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) CATGTGTAAGGTTTCTCTCCA 0.398000 38 26 1.90571e-15 2.74673e-15 1 1 0 DLL3 10683 broad.mit.edu 37 19 39989984 39989984 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:39989984G>A ENST00000205143.4 + 2 229 c.222G>A c.(220-222)gaG>gaA p.E74E DLL3_ENST00000356433.5_Silent_p.E74E|DLL3_ENST00000600579.1_3'UTR NM_016941.3 NP_058637.1 Q9NYJ7 DLL3_HUMAN delta-like 3 (Drosophila) 74 Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGGCCGCCGAGTCCCCGTGCG 0.756000 9 7 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142566043 142566043 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:142566043T>C ENST00000392957.2 + 14 2750 c.1963T>C c.(1963-1965)Tgt>Cgt p.C655R EPHB6_ENST00000411471.2_Missense_Mutation_p.C378R|EPHB6_ENST00000442129.1_Missense_Mutation_p.C655R NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 655 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CGAGGACCCCTGTCAGGCCAT 0.562000 31 47 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14106295 14106295 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:14106295C>G ENST00000235372.7 + 8 2861 c.2005C>G c.(2005-2007)Ctt>Gtt p.L669V PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.L468V|PRDM2_ENST00000311066.5_Missense_Mutation_p.L669V|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L468V NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 669 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AAGTCTTCCTCTTAGCATATC 0.453000 16 44 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160604684 160604684 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:160604684T>A ENST00000302035.6 - 3 768 c.419A>T c.(418-420)cAg>cTg p.Q140L SLAMF1_ENST00000355199.3_Missense_Mutation_p.Q140L|SLAMF1_ENST00000235739.5_Missense_Mutation_p.Q140L|SLAMF1_ENST00000538290.1_Missense_Mutation_p.Q140L NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 140 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AGTGGAGACCTGCTCTGTCAG 0.498000 32 32 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1090898 1090898 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:1090898C>T ENST00000441003.2 + 28 3820 c.3793C>T c.(3793-3795)Ctg>Ttg p.L1265L MUC2_ENST00000359061.5_Silent_p.L1266L NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1265 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCCGTCCACCCTGaccacctt 0.627000 7 13 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38122186 38122186 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:38122186G>T ENST00000406386.3 + 7 3878 c.3623G>T c.(3622-3624)gGc>gTc p.G1208V RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1208 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TCTCTGCATGGCTCCCCAGTG 0.652000 34 14 6.70999e-13 9.21538e-13 1 1 0 SEMA3D 223117 broad.mit.edu 37 7 84727204 84727204 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:84727204C>G ENST00000284136.6 - 2 272 c.229G>C c.(229-231)Gag>Cag p.E77Q SEMA3D_ENST00000444867.1_Missense_Mutation_p.E77Q NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 77 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CCTCTTTCCTCATCTAAGAGA 0.368000 84 43 0 0 1 0 0 RAB9BP1 9366 broad.mit.edu 37 5 104435558 104435558 + RNA SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:104435558G>C ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA GACTGACAGTGAACAGCAGGT 0.428000 24 26 0 0 1 0 0 FBXL4 26235 broad.mit.edu 37 6 99323339 99323339 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:99323339C>G ENST00000369244.2 - 9 2082 c.1654G>C c.(1654-1656)Gat>Cat p.D552H FBXL4_ENST00000229971.1_Missense_Mutation_p.D552H Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 552 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) GCCAATTCATCAATGTCTGTG 0.408000 21 31 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26856037 26856037 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:26856037A>T ENST00000376236.4 + 15 2076 c.1621A>T c.(1621-1623)Aca>Tca p.T541S APBB1IP_ENST00000493857.1_3'UTR NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 541 Pro-rich. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 GGCCAAGGGCACAGGCGGCGG 0.796000 5 1 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15871632 15871632 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:15871632C>A ENST00000595525.1 + 0 448 CYP4F24P_ENST00000587443.2_RNA TACCTGGGTCCCGCAGAGAAG 0.557000 57 18 1.13205e-32 2.00503e-32 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113650967 113650967 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:113650967C>T ENST00000297405.5 - 21 3728 c.3484G>A c.(3484-3486)Gat>Aat p.D1162N CSMD3_ENST00000455883.2_Missense_Mutation_p.D1058N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1162N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1122N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1162 CUB 6. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATTGAAAAATCTGAAATGAAA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 49 0 0 1 0 0 CNKSR3 154043 broad.mit.edu 37 6 154763227 154763227 + Silent SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:154763227C>G ENST00000607772.1 - 3 958 c.414G>C c.(412-414)ctG>ctC p.L138L CNKSR3_ENST00000479339.1_Silent_p.L58L NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 138 CRIC. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CTTACCGGTCCAGCCACGCCA 0.567000 22 24 0 0 1 0 0 SF3B2 10992 broad.mit.edu 37 11 65826401 65826401 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:65826401G>T ENST00000528302.1 + 9 1070 c.1016G>T c.(1015-1017)cGg>cTg p.R339L SF3B2_ENST00000322535.6_Missense_Mutation_p.R356L Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 356 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 GACTCAACCCGGTCCCGTGGC 0.512000 26 43 4.72057e-08 5.81656e-08 1 1 0 PSG5 5673 broad.mit.edu 37 19 43689065 43689065 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:43689065G>T ENST00000404580.1 - 2 387 c.299C>A c.(298-300)aCa>aAa p.T100K PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Missense_Mutation_p.T100K|PSG5_ENST00000342951.6_Missense_Mutation_p.T100K|PSG5_ENST00000599812.1_Missense_Mutation_p.T100K|PSG5_ENST00000407568.1_Missense_Mutation_p.T100K|PSG5_ENST00000407356.1_Missense_Mutation_p.T100K Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 100 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GGAATATACTGTTTCTCGTCC 0.438000 379 77 6.28522e-213 1.20049e-212 1 1 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657087 72657087 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:72657087G>T ENST00000425256.1 - 0 2824 NR_002164.1 tgtagtcccagctgctcggga 0.572000 4 1 0.000602214 0.000653205 1 1 0 AKR1B1 231 broad.mit.edu 37 7 134136347 134136347 + Silent SNP G G A rs115549384 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:134136347G>A ENST00000285930.4 - 2 304 c.225C>T c.(223-225)atC>atT p.I75I AKR1B1_ENST00000489022.1_5'UTR NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 75 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) CCTTGCTGACGATGAAGAGCT 0.562000 10 78 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131704165 131704165 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:131704165G>A ENST00000409359.1 + 4 4150 c.2952G>A c.(2950-2952)acG>acA p.T984T ARHGEF4_ENST00000525839.1_Silent_p.T128T|ARHGEF4_ENST00000392953.3_Silent_p.T128T|ARHGEF4_ENST00000409303.1_Silent_p.T128T|ARHGEF4_ENST00000428230.2_Silent_p.T128T|ARHGEF4_ENST00000326016.5_Silent_p.T128T Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 128 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) GTGCTCCAACGGGACTGAACC 0.527000 63 20 0 0 1 0 0 VAX1 11023 broad.mit.edu 37 10 118897451 118897451 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:118897451G>T ENST00000277905.2 - 1 361 c.117C>A c.(115-117)ctC>ctA p.L39L VAX1_ENST00000369206.5_Silent_p.L39L NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 39 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) AGGCGGCTGGGAGGTTCCCCT 0.622000 30 10 1.13719e-10 1.49018e-10 1 1 0 CXorf66 347487 broad.mit.edu 37 X 139038282 139038282 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:139038282A>T ENST00000370540.1 - 3 882 c.859T>A c.(859-861)Tct>Act p.S287T NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 287 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 TTTGCCTCAGAAATATCATTG 0.388000 86 15 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70333280 70333280 + Silent SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:70333280A>T ENST00000373644.4 + 2 1394 c.1185A>T c.(1183-1185)ctA>ctT p.L395L NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 395 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CCCCAGATCTACCAGAGATTC 0.507000 80 125 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153245479 153245479 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:153245479C>A ENST00000281708.4 - 11 2941 c.1712G>T c.(1711-1713)gGg>gTg p.G571V FBXW7_ENST00000603548.1_Missense_Mutation_p.G571V|FBXW7_ENST00000603841.1_Missense_Mutation_p.G571V|FBXW7_ENST00000393956.3_Missense_Mutation_p.G395V|FBXW7_ENST00000296555.5_Missense_Mutation_p.G453V|FBXW7_ENST00000263981.5_Missense_Mutation_p.G491V NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 571 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|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AATGCAATTCCCTGTCTCCAC 0.398000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 21 26 3.51602e-12 4.76715e-12 1 1 0 LILRB5 10990 broad.mit.edu 37 19 54758764 54758764 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:54758764G>T ENST00000450632.1 - 6 1139 c.1062C>A c.(1060-1062)ccC>ccA p.P354P LILRB5_ENST00000316219.5_Silent_p.P363P|LILRB5_ENST00000449561.2_Silent_p.P363P|LILRB5_ENST00000345866.6_Silent_p.P263P O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 363 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GACACAGCGGGGGATGGGCTG 0.547000 65 10 4.73848e-44 8.71458e-44 1 1 0 ZNF34 80778 broad.mit.edu 37 8 145999668 145999668 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:145999668T>C ENST00000429371.2 - 6 756 c.603A>G c.(601-603)acA>acG p.T201T ZNF34_ENST00000343459.4_Silent_p.T222T NM_030580.3 NP_085057.3 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) GAACTGTATTTGTTTTTTTTG 0.353000 42 13 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115423621 115423621 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:115423621A>G ENST00000369358.4 - 1 265 c.21T>C c.(19-21)tcT>tcC p.S7S NRAP_ENST00000360478.3_Silent_p.S7S|NRAP_ENST00000369360.3_Silent_p.S7S|NRAP_ENST00000359988.3_Silent_p.S7S Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 7 LIM zinc-binding. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ACCCACACCTAGAACAGGGCT 0.453000 27 10 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100190915 100190915 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:100190915G>A ENST00000355295.4 + 2 463 c.168G>A c.(166-168)gtG>gtA p.V56V TDRD7_ENST00000422139.2_Intron NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 56 Lotus/OST-HTH 1. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TGAGAAGTGTGCCAGCAGTGG 0.478000 15 39 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237868566 237868566 + Missense_Mutation SNP T T C rs144672421 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:237868566T>C ENST00000366574.2 + 67 9820 c.9503T>C c.(9502-9504)gTa>gCa p.V3168A RYR2_ENST00000542537.1_Missense_Mutation_p.V3152A|RYR2_ENST00000360064.6_Missense_Mutation_p.V3166A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3168 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCTTTTCCTGTAGCATTTTTG 0.398000 3 15 0 0 1 0 0 TRBV19 28568 broad.mit.edu 37 7 142326756 142326756 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:142326756C>A ENST00000390393.3 + 0 262 TTCCAGACACCGTGGATGGTG 0.522000 50 57 1.86633e-21 2.963e-21 1 1 0 KRT3 3850 broad.mit.edu 37 12 53188083 53188083 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:53188083C>T ENST00000417996.2 - 2 752 c.678G>A c.(676-678)ctG>ctA p.L226L KRT3_ENST00000309505.3_Silent_p.L226L NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 226 Coil 1A.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 ACTTGGTCTCCAGGACTTTGT 0.527000 38 59 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1247900 1247900 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:1247900C>A ENST00000447027.1 + 4 313 c.255C>A c.(253-255)taC>taA p.Y85* MUC5B_ENST00000529681.1_Nonsense_Mutation_p.Y85* Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 85 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTTCCACTACAAGACCTTCG 0.647000 9 7 1.58986e-06 1.8632e-06 1 1 0 CD96 10225 broad.mit.edu 37 3 111317006 111317006 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:111317006G>A ENST00000352690.4 + 6 1087 c.847G>A c.(847-849)Gca>Aca p.A283T CD96_ENST00000283285.5_Missense_Mutation_p.A299T|CD96_ENST00000438817.2_Missense_Mutation_p.A283T NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 299 Ig-like C2-type. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 ATTTCCCAAAGCAAATATCAC 0.318000 Opitz Trigonocephaly syndrome 49 93 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120306919 120306919 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:120306919G>T ENST00000369406.3 - 2 484 c.435C>A c.(433-435)ctC>ctA p.L145L HMGCS2_ENST00000544913.2_Silent_p.L145L|HMGCS2_ENST00000476640.1_5'UTR NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 145 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) AGAGTTCCATGAGCACTGTTT 0.517000 14 49 3.27435e-08 4.05474e-08 1 1 0 MUC16 94025 broad.mit.edu 37 19 9047942 9047942 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:9047942C>A ENST00000397910.4 - 5 33892 c.33689G>T c.(33688-33690)aGt>aTt p.S11230I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11232 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCTGGTTGACTTGAGGCAAC 0.483000 20 7 5.03518e-11 6.65683e-11 1 1 0 IPPK 64768 broad.mit.edu 37 9 95411781 95411781 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:95411781G>A ENST00000287996.3 - 5 644 c.368C>T c.(367-369)aCc>aTc p.T123I NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 123 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 AAAGCGGTAGGTTTGGAGTCT 0.517000 11 36 0 0 1 0 0 QRSL1 55278 broad.mit.edu 37 6 107100441 107100441 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:107100441G>T ENST00000369046.4 + 7 937 c.833G>T c.(832-834)tGt>tTt p.C278F QRSL1_ENST00000369044.1_Missense_Mutation_p.C278F NM_018292.4 NP_060762.3 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 278 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) AGCAAACTATGTATAGGAATT 0.448000 10 43 7.48243e-07 8.93083e-07 1 1 0 HIVEP3 59269 broad.mit.edu 37 1 41976631 41976631 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:41976631C>A ENST00000372584.1 - 8 7723 c.6709G>T c.(6709-6711)Gcc>Tcc p.A2237S HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2238S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2237S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2238S|HIVEP3_ENST00000460604.1_5'UTR NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2238 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CGCTCCTGGGCCTCCCGGGCC 0.701000 46 30 4.44401e-20 6.90052e-20 1 1 0 SP140L 93349 broad.mit.edu 37 2 231264874 231264874 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:231264874G>T ENST00000243810.6 + 15 1230 c.1230G>T c.(1228-1230)cgG>cgT p.R410R SP140L_ENST00000415673.2_Silent_p.R410R|SP140L_ENST00000396563.4_Silent_p.R375R|SP140L_ENST00000444636.1_Silent_p.R410R Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 410 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 AGGTGTGCCGGGACGGAGGGG 0.522000 27 56 7.26314e-15 1.03381e-14 1 1 0 RYR1 6261 broad.mit.edu 37 19 38976770 38976770 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:38976770C>A ENST00000355481.4 + 34 5606 c.5475C>A c.(5473-5475)caC>caA p.H1825Q RYR1_ENST00000360985.3_Missense_Mutation_p.H1825Q|RYR1_ENST00000359596.3_Missense_Mutation_p.H1825Q NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1825 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTGGGCAGCACGCTCGCGACC 0.687000 88 96 7.63117e-38 1.37454e-37 1 1 0 SEMA5B 54437 broad.mit.edu 37 3 122630826 122630826 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:122630826G>C ENST00000195173.4 - 20 3284 c.2981C>G c.(2980-2982)tCc>tGc p.S994C SEMA5B_ENST00000451055.2_Missense_Mutation_p.S1050C|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S996C Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 996 TSP type-1 5. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) ACAGGCGCTGGACCCTGGGAG 0.657000 11 15 0 0 1 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789582 6789582 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:6789582C>A ENST00000338569.2 - 1 704 c.607G>T c.(607-609)Ggt>Tgt p.G203C NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AAAGTCACACCTGTCACGTAT 0.493000 19 25 6.94344e-10 8.97214e-10 1 1 0 MATN3 4148 broad.mit.edu 37 2 20202957 20202957 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:20202957C>T ENST00000407540.3 - 3 943 c.881G>A c.(880-882)gGa>gAa p.G294E AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Intron NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 294 EGF-like 1. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAAGGTGTATCCTTGGCTACA 0.542000 33 29 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100374055 100374055 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:100374055A>G ENST00000262233.6 + 10 1228 c.1089A>G c.(1087-1089)aaA>aaG p.K363K EML1_ENST00000327921.9_Silent_p.K351K|EML1_ENST00000334192.4_Silent_p.K382K NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 363 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) AAGAAGAAAAACTAGCAGATG 0.483000 9 55 0 0 1 0 0 ACSL6 23305 broad.mit.edu 37 5 131329896 131329896 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:131329896C>A ENST00000379264.2 - 2 206 c.98G>T c.(97-99)aGg>aTg p.R33M ACSL6_ENST00000379246.1_Missense_Mutation_p.R19M|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000544770.1_De_novo_Start_InFrame|ACSL6_ENST00000379255.1_Missense_Mutation_p.R8M|ACSL6_ENST00000296869.4_Missense_Mutation_p.R33M|ACSL6_ENST00000431707.1_Missense_Mutation_p.R8M|ACSL6_ENST00000379272.2_Missense_Mutation_p.R8M|ACSL6_ENST00000379244.1_Missense_Mutation_p.R8M|ACSL6_ENST00000379240.1_Missense_Mutation_p.R8M|ACSL6_ENST00000357096.1_Missense_Mutation_p.R8M|ACSL6_ENST00000379249.3_Missense_Mutation_p.R8M|ACSL6_ENST00000543479.1_Missense_Mutation_p.R8M NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 8 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCGCAGTATCCTCAGGATCTC 0.552000 10 8 0.000442599 0.00048325 1 1 0 ITGA7 3679 broad.mit.edu 37 12 56094902 56094902 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:56094902C>A ENST00000257880.7 - 4 670 c.451G>T c.(451-453)Gac>Tac p.D151Y ITGA7_ENST00000394230.2_Missense_Mutation_p.D151Y|ITGA7_ENST00000347027.6_Missense_Mutation_p.D151Y|ITGA7_ENST00000555728.1_Missense_Mutation_p.D151Y|ITGA7_ENST00000553804.1_Missense_Mutation_p.D151Y|ITGA7_ENST00000452168.2_Missense_Mutation_p.D54Y|ITGA7_ENST00000257879.6_Missense_Mutation_p.D151Y|ITGA7_ENST00000394229.2_Missense_Mutation_p.D151Y Q13683 ITA7_HUMAN integrin, alpha 7 151 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 AGGATCTGGTCCACTCGCTGC 0.587000 24 34 2.39556e-15 3.43943e-15 1 1 0 NOVA1 4857 broad.mit.edu 37 14 26917816 26917816 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:26917816A>T ENST00000539517.2 - 5 1190 c.873T>A c.(871-873)caT>caA p.H291Q NOVA1_ENST00000465357.2_Missense_Mutation_p.H267Q|NOVA1_ENST00000267422.7_Missense_Mutation_p.H169Q NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 294 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CAAGGTTAGCATGTCCTAATA 0.502000 38 56 0 0 1 0 0 PHF20L1 51105 broad.mit.edu 37 8 133806683 133806683 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:133806683C>A ENST00000395386.2 + 3 410 c.111C>A c.(109-111)gaC>gaA p.D37E PHF20L1_ENST00000395383.1_Missense_Mutation_p.D37E|PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.D37E|PHF20L1_ENST00000395376.1_Missense_Mutation_p.D37E|PHF20L1_ENST00000337920.4_Missense_Mutation_p.D37E|PHF20L1_ENST00000395390.2_Missense_Mutation_p.D37E|PHF20L1_ENST00000315808.10_Missense_Mutation_p.D37E|PHF20L1_ENST00000220847.7_5'UTR NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 37 Tudor 1. nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AAAAAATTGACTATGAGGAGG 0.358000 68 34 1.84395e-34 3.2855e-34 1 1 0 OR10W1 81341 broad.mit.edu 37 11 58035060 58035060 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:58035060G>T ENST00000395079.2 - 1 672 c.271C>A c.(271-273)Cag>Aag p.Q91K NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) AAAGCCATCTGGGTGGCACAG 0.547000 16 24 1.3612e-06 1.60536e-06 1 1 0 C1orf168 199920 broad.mit.edu 37 1 57185863 57185863 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:57185863C>T ENST00000343433.6 - 18 2194 c.2114G>A c.(2113-2115)cGt>cAt p.R705H NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 705 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTTAGAATTACGACATATCAC 0.264000 26 27 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12956886 12956886 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:12956886C>A ENST00000276297.4 - 9 3369 c.2960G>T c.(2959-2961)gGg>gTg p.G987V DLC1_ENST00000512044.2_Missense_Mutation_p.G584V|DLC1_ENST00000520226.1_Missense_Mutation_p.G476V|DLC1_ENST00000358919.2_Missense_Mutation_p.G550V NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 987 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AGCCCCAACCCCAGAATCCCT 0.577000 31 19 5.77227e-19 8.80657e-19 1 1 0 ZNF98 148198 broad.mit.edu 37 19 22586284 22586284 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:22586284C>G ENST00000357774.5 - 2 182 c.61G>C c.(61-63)Gaa>Caa p.E21Q ZNF98_ENST00000601553.1_Missense_Mutation_p.E21Q NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) AGAGAGAATTCTAAGGCCACA 0.403000 80 25 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148037735 148037735 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:148037735C>T ENST00000370460.2 + 11 2639 c.2160C>T c.(2158-2160)tcC>tcT p.S720S AFF2_ENST00000286437.5_Silent_p.S361S|AFF2_ENST00000370457.5_Silent_p.S687S|AFF2_ENST00000342251.3_Silent_p.S687S NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 720 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CATCTGACTCCAACACAGATC 0.478000 13 95 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140174688 140174688 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140174688C>G ENST00000526136.1 + 1 139 c.139C>G c.(139-141)Cgc>Ggc p.R47G PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R47G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R47G NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCGTGGGCCGCATCGCGCA 0.677000 54 22 0 0 1 0 0 C16orf86 388284 broad.mit.edu 37 16 67702446 67702446 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:67702446G>C ENST00000403458.4 + 4 1052 c.897G>C c.(895-897)aaG>aaC p.K299N NM_001012984.2 NP_001013002.2 Q6ZW13 CP086_HUMAN chromosome 16 open reading frame 86 299 endometrium(2)|lung(4) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) ACATCGACAAGATGCTGAGTG 0.617000 OREG0023886 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 7 0 0 1 0 0 CEP112 201134 broad.mit.edu 37 17 64025368 64025368 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:64025368C>T ENST00000392769.2 - 14 1594 c.1376G>A c.(1375-1377)cGt>cAt p.R459H CEP112_ENST00000537949.1_Missense_Mutation_p.R417H|CEP112_ENST00000541355.1_Missense_Mutation_p.R94H|CEP112_ENST00000535342.2_Missense_Mutation_p.R459H NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 459 centrosome p.R459H(2) NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 CAGTGTGTTACGCCTAAAAAC 0.279000 14 84 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821254 5821254 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:5821254G>T ENST00000381095.3 - 5 2092 c.1465C>A c.(1465-1467)Cat>Aat p.H489N NLGN4X_ENST00000275857.6_Missense_Mutation_p.H489N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.H489N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.H509N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.H489N NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 489 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TCATCACCATGGGCCGAATCT 0.572000 16 17 2.31682e-05 2.62408e-05 1 1 0 KRT20 54474 broad.mit.edu 37 17 39038822 39038822 + Splice_Site SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:39038822A>T ENST00000167588.3 - 2 515 c.e2+1 NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TAGGGAACCTACTTCAGTCTG 0.408000 35 45 0 0 1 0 0 PLD4 122618 broad.mit.edu 37 14 105396326 105396326 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:105396326C>A ENST00000540372.1 + 6 814 c.622C>A c.(622-624)Cga>Aga p.R208R PLD4_ENST00000392593.4_Silent_p.R201R Q96BZ4 PLD4_HUMAN phospholipase D family, member 4 201 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) TGCCCATGTACGACAGGTGCC 0.557000 49 52 3.21987e-24 5.31046e-24 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139180138 139180138 + Splice_Site SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:139180138C>T ENST00000395297.1 - 12 1428 c.1258_splice c.e12+1 p.G420_splice NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 420 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACAGACAAACCTGTCGCAGGG 0.502000 HNSCC(54;0.14) 26 104 0 0 1 0 0 KDM4D 55693 broad.mit.edu 37 11 94731955 94731955 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:94731955G>T ENST00000335080.5 + 3 2251 c.1419G>T c.(1417-1419)agG>agT p.R473S KDM4D_ENST00000536741.1_Missense_Mutation_p.R473S NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 473 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CAGCCAAGAGGCCCCTCTTGG 0.602000 13 52 1.05317e-09 1.35382e-09 1 1 0 TFPI 7035 broad.mit.edu 37 2 188361770 188361770 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:188361770A>G ENST00000233156.3 - 3 451 c.157T>C c.(157-159)Ttt>Ctt p.F53L AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.F53L|TFPI_ENST00000392365.1_Missense_Mutation_p.F53L|TFPI_ENST00000409676.1_Missense_Mutation_p.F53L NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 53 blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) AATGCACAAAATGAATGCATA 0.333000 23 37 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158622410 158622410 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:158622410G>T ENST00000368148.3 - 23 3402 c.3222C>A c.(3220-3222)cgC>cgA p.R1074R SPTA1_ENST00000368147.3_Silent_p.R1074R NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1074 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GACGACGTCTGCGTTCTTCTG 0.438000 26 58 1.85244e-09 2.36896e-09 1 1 0 CACNG5 27091 broad.mit.edu 37 17 64881147 64881147 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:64881147G>T ENST00000533854.1 + 6 855 c.618G>T c.(616-618)gcG>gcT p.A206A CACNG5_ENST00000307139.3_Silent_p.A206A Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 206 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GGTACACCGCGGAGGACATGT 0.612000 21 72 8.34094e-07 9.88408e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179571218 179571218 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:179571218C>T ENST00000589042.1 - 102 29607 c.29383G>A c.(29383-29385)Gag>Aag p.E9795K TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8551K|TTN_ENST00000591111.1_Missense_Mutation_p.E9478K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9478 Ig-like 79. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAATTTTCTCTTGTTTCTTC 0.388000 38 31 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167719496 167719496 + Nonsense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:167719496A>T ENST00000230256.3 + 6 1109 c.934A>T c.(934-936)Aag>Tag p.K312* UNC93A_ENST00000366829.2_Nonsense_Mutation_p.K270* NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 312 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GTTGTATGGAAAGGTCTCGCA 0.577000 48 52 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134583196 134583196 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:134583196G>T ENST00000367858.5 - 2 757 c.160C>A c.(160-162)Cct>Act p.P54T SGK1_ENST00000524929.1_Missense_Mutation_p.P54T NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 0 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) TCCCCTGGAGGGATGTGCACC 0.542000 50 65 2.55665e-31 4.47489e-31 1 1 0 COL14A1 7373 broad.mit.edu 37 8 121243835 121243835 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:121243835C>A ENST00000297848.3 + 19 2597 c.2327C>A c.(2326-2328)cCt>cAt p.P776H COL14A1_ENST00000247781.3_Missense_Mutation_p.P681H|COL14A1_ENST00000309791.4_Missense_Mutation_p.P776H|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 776 Fibronectin type-III 6. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CAAGGGGACCCTGAGGAAGAA 0.448000 12 40 0.0809354 0.0828305 1 1 0 GTF2H2C 728340 broad.mit.edu 37 5 68868340 68868340 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:68868340C>G ENST00000510979.1 + 8 628 c.433C>G c.(433-435)Ctt>Gtt p.L145V GTF2H2C_ENST00000514162.1_Intron|GTF2H2C_ENST00000380729.3_Missense_Mutation_p.L145V|GTF2H2C_ENST00000508344.2_Missense_Mutation_p.L88V|GTF2H2C_ENST00000512736.1_Missense_Mutation_p.L145V NM_001098728.1 NP_001092198.1 Q6P1K8 T2H2L_HUMAN general transcription factor IIH, polypeptide 2C 145 VWFA. DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding large_intestine(1)|lung(1) 2 AGAGCCATCTCTTTATAATTC 0.313000 30 85 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37492000 37492000 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:37492000C>A ENST00000381792.2 - 5 675 c.535G>T c.(535-537)Gcc>Tcc p.A179S TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A179S|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A188S|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A188S|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A179S Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 188 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 TAGGGGACGGCAGCCGAGCTG 0.637000 17 10 1.02788e-11 1.37731e-11 1 1 0 PSG11 5680 broad.mit.edu 37 19 43519507 43519507 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:43519507G>A ENST00000401740.1 - 4 828 c.725C>T c.(724-726)cCc>cTc p.P242L PSG11_ENST00000320078.7_Missense_Mutation_p.P242L|PSG11_ENST00000403486.1_Missense_Mutation_p.P120L|PSG11_ENST00000306322.7_Missense_Mutation_p.P120L Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 242 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GAAAATTCTGGGGAGGTCTGG 0.483000 133 47 0 0 1 0 0 ZBTB14 7541 broad.mit.edu 37 18 5291435 5291435 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:5291435T>C ENST00000357006.4 - 4 1110 c.772A>G c.(772-774)Aca>Gca p.T258A ZBTB14_ENST00000400143.3_Missense_Mutation_p.T258A NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 zinc finger and BTB domain containing 14 CTGGCGGCTGTTGTCCAGCCT 0.498000 16 66 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935460 30935460 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:30935460G>T ENST00000355537.3 + 2 1138 c.991G>T c.(991-993)Ggc>Tgc p.G331C NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GTCGGCCCAGGGCCAGGGCCC 0.652000 75 95 3.83446e-41 7.00861e-41 1 1 0 CHD7 55636 broad.mit.edu 37 8 61654206 61654206 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:61654206A>G ENST00000423902.2 + 2 694 c.215A>G c.(214-216)tAt>tGt p.Y72C CHD7_ENST00000525508.1_Missense_Mutation_p.Y72C|CHD7_ENST00000524602.1_Missense_Mutation_p.Y72C NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 72 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TTTGATCACTATAATCAGTAT 0.443000 4 16 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31587069 31587069 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:31587069C>A ENST00000379416.3 - 24 2634 c.2586G>T c.(2584-2586)gtG>gtT p.V862V NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 862 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGAAGTGGTCCACCTCAAGAG 0.542000 24 31 8.24728e-16 1.19566e-15 1 1 0 ZNF33A 7581 broad.mit.edu 37 10 38343714 38343714 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:38343714A>T ENST00000374618.3 + 5 840 c.662A>T c.(661-663)tAc>tTc p.Y221F ZNF33A_ENST00000307441.9_Missense_Mutation_p.Y220F|ZNF33A_ENST00000432900.2_Missense_Mutation_p.Y227F|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Missense_Mutation_p.Y220F NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 220 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 AATTTTGAATACAGTATATGT 0.358000 26 50 0 0 1 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68934444 68934444 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:68934444C>G ENST00000356291.2 - 7 706 c.647G>C c.(646-648)gGg>gCg p.G216A RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 216 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 TGGCCATTCCCCTTCCATAGC 0.527000 15 42 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26856033 26856033 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:26856033G>T ENST00000376236.4 + 15 2072 c.1617G>T c.(1615-1617)aaG>aaT p.K539N APBB1IP_ENST00000493857.1_3'UTR NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 539 Pro-rich. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 TCAAGGCCAAGGGCACAGGCG 0.801000 5 1 0.000602214 0.000653205 1 1 0 ZFP82 284406 broad.mit.edu 37 19 36884661 36884661 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:36884661C>G ENST00000392161.3 - 5 823 c.581G>C c.(580-582)gGt>gCt p.G194A ZFP82_ENST00000392171.1_Missense_Mutation_p.G194A NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CGGTTTTTCACCAGTATGAAT 0.418000 19 131 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343362 248343362 + Silent SNP G G T rs145713159 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:248343362G>T ENST00000359682.2 + 1 75 c.75G>T c.(73-75)acG>acT p.T25T NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CACCACACACGTTCCTCTTCT 0.498000 92 109 1.06222e-33 1.88812e-33 1 1 0 RUNX2 860 broad.mit.edu 37 6 45514747 45514747 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:45514747C>A ENST00000371438.1 + 8 1629 c.1271C>A c.(1270-1272)cCa>cAa p.P424Q RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000541979.1_Missense_Mutation_p.P470Q|RUNX2_ENST00000465038.2_Missense_Mutation_p.P424Q|RUNX2_ENST00000352853.5_Missense_Mutation_p.P492Q|RUNX2_ENST00000371432.3_Missense_Mutation_p.P388Q|RUNX2_ENST00000371436.6_Missense_Mutation_p.P402Q|RUNX2_ENST00000359524.5_Missense_Mutation_p.P410Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 424 Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TACCTGCCACCACCCTACCCC 0.567000 25 34 3.93418e-24 6.45988e-24 1 1 0 RSPH3 83861 broad.mit.edu 37 6 159420560 159420560 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:159420560C>A ENST00000367069.2 - 1 659 c.23G>T c.(22-24)cGc>cTc p.R8L RSPH3_ENST00000297262.3_Missense_Mutation_p.R150L|RSPH3_ENST00000252655.1_Missense_Mutation_p.R150L|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_Missense_Mutation_p.R8L Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 150 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) CCGAGAGGTGCGATCAGTCAG 0.672000 14 47 7.93312e-07 9.41583e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179424241 179424241 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:179424241C>A ENST00000589042.1 - 326 86842 c.86618G>T c.(86617-86619)gGt>gTt p.G28873V TTN_ENST00000359218.5_Missense_Mutation_p.G19933V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20000V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26305V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27232V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19808V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27232 Fibronectin type-III 110. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGTGCTCCACCATCGTTTTC 0.458000 50 75 3.21987e-24 5.31046e-24 1 1 0 PROS1 5627 broad.mit.edu 37 3 93595823 93595823 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:93595823C>A ENST00000394236.3 - 14 2173 c.1857G>T c.(1855-1857)ctG>ctT p.L619L PROS1_ENST00000407433.1_Silent_p.L488L NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 619 Laminin G-like 2. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.L619L(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) GAAGGCCACCCAGGTATGTGG 0.343000 35 57 6.84511e-11 9.02559e-11 1 1 0 OAS2 4939 broad.mit.edu 37 12 113433240 113433240 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:113433240A>G ENST00000392583.2 + 3 795 c.588A>G c.(586-588)ctA>ctG p.L196L RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.L196L NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 196 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CTGGAAAACTAAAGGATTTGA 0.383000 30 58 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1416277 1416277 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:1416277C>A ENST00000270349.9 - 7 1094 c.967G>T c.(967-969)Ggc>Tgc p.G323C SLC6A3_ENST00000453492.2_Missense_Mutation_p.G323C NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 323 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AACCCCACGCCCAGGGAGAAG 0.627000 19 29 7.41877e-09 9.33471e-09 1 1 0 ADAMTS19 171019 broad.mit.edu 37 5 128862057 128862057 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:128862057A>T ENST00000274487.4 + 4 1121 c.976A>T c.(976-978)Aac>Tac p.N326Y CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 326 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TCAAGAATACAACATAGAGAC 0.393000 39 79 0 0 1 0 0 MIR1185-2 100302209 broad.mit.edu 37 14 101510584 101510584 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:101510584C>A ENST00000408687.1 + 0 50 NR_031571.1 TGATTAATGGCGAATATACAG 0.502000 16 8 9.16793e-09 1.15064e-08 1 1 0 SLC5A12 159963 broad.mit.edu 37 11 26743178 26743178 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:26743178A>G ENST00000396005.3 - 1 393 c.84T>C c.(82-84)ttT>ttC p.F28F SLC5A12_ENST00000280467.6_Silent_p.F28F NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 28 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 CCTTAATGGCAAAGAACACCC 0.463000 43 46 0 0 1 0 0 SHANK3 85358 broad.mit.edu 37 22 51160759 51160759 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:51160759C>T ENST00000414786.2 + 21 4683 c.4456C>T c.(4456-4458)Cgc>Tgc p.R1486C SHANK3_ENST00000445220.2_Missense_Mutation_p.R1502C|SHANK3_ENST00000262795.3_Missense_Mutation_p.R1516C F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1516 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GCTCAGCTCCCGCCTGCAGCA 0.642000 7 18 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45387646 45387646 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:45387646G>T ENST00000389039.6 - 31 4613 c.4228C>A c.(4228-4230)Ctg>Atg p.L1410M DUOX2_ENST00000603300.1_Missense_Mutation_p.L1410M Q9NRD8 DUOX2_HUMAN dual oxidase 2 1410 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TTCTTACACAGCATTTGGCTG 0.537000 60 16 2.73361e-28 4.67451e-28 1 1 0 NBL1 4681 broad.mit.edu 37 1 19969872 19969872 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:19969872G>A ENST00000289749.2 + 1 147 c.67G>A c.(67-69)Ggt>Agt p.G23S MINOS1-NBL1_ENST00000602662.1_Intron NM_182744.3 NP_877421.2 P41271 NBL1_HUMAN neuroblastoma 1, DAN family BMP antagonist 0 extracellular region lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGCCAAGCTAGGTAAAACACA 0.537000 7 23 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123811042 123811042 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:123811042G>T ENST00000307033.2 + 1 793 c.719G>T c.(718-720)tGt>tTt p.C240F NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C240S(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTGTCTACCTGTGCCTCTCAC 0.542000 94 88 2.42943e-58 4.58139e-58 1 1 0 HS3ST5 222537 broad.mit.edu 37 6 114378539 114378539 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:114378539C>A ENST00000312719.5 - 5 2111 c.923G>T c.(922-924)aGc>aTc p.S308I RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.S308I|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 308 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GCGCCCCTTGCTGCCCGCCAG 0.418000 25 33 1.55469e-16 2.2874e-16 1 1 0 COL28A1 340267 broad.mit.edu 37 7 7545644 7545644 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:7545644C>A ENST00000399429.3 - 11 1167 c.e11+1 NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GGTAAGATTACCTTATTGCCT 0.433000 30 89 2.81731e-10 3.67885e-10 1 1 0 XIRP1 165904 broad.mit.edu 37 3 39227604 39227604 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:39227604G>T ENST00000340369.3 - 2 3561 c.3333C>A c.(3331-3333)ccC>ccA p.P1111P XIRP1_ENST00000396251.1_Silent_p.P1111P|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1111 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CTGGGATCCGGGGATCACTTC 0.612000 44 18 2.84425e-11 3.78046e-11 1 1 0 DEFB134 613211 broad.mit.edu 37 8 11851592 11851592 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:11851592T>C ENST00000526438.1 - 2 158 c.98A>G c.(97-99)tAt>tGt p.Y33C DEFB134_ENST00000382205.4_Missense_Mutation_p.Y33C NM_001033019.1 NP_001028191.1 Q4QY38 DB134_HUMAN defensin, beta 134 33 defense response to bacterium extracellular region kidney(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.159) GCCATTTTTATAGCATTTCTT 0.373000 15 58 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36841786 36841786 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:36841786C>A ENST00000279024.4 - 14 3532 c.3261G>T c.(3259-3261)aaG>aaT p.K1087N NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 1087 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CCCACCTCCCCTTGGAAGTGA 0.602000 11 7 0.0692343 0.0709532 1 1 0 KIAA0907 22889 broad.mit.edu 37 1 155884040 155884040 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:155884040C>T ENST00000368321.3 - 14 1740 c.1717G>A c.(1717-1719)Gat>Aat p.D573N KIAA0907_ENST00000368320.3_3'UTR NM_014949.2 NP_055764.2 Q7Z7F0 K0907_HUMAN KIAA0907 573 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TCCTCTTCATCAGATGAATCT 0.428000 37 90 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157488304 157488304 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:157488304G>T ENST00000346085.5 + 10 3011 c.3010G>T c.(3010-3012)Gtg>Ttg p.V1004L ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.V991L|ARID1B_ENST00000275248.4_Missense_Mutation_p.V933L|ARID1B_ENST00000367148.1_Missense_Mutation_p.V991L NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 991 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GCCCGCCATGGTGAACAGCTC 0.607000 21 60 6.44725e-10 8.36005e-10 1 1 0 SAMD9L 219285 broad.mit.edu 37 7 92760661 92760661 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:92760661C>A ENST00000318238.4 - 5 5840 c.4624G>T c.(4624-4626)Gaa>Taa p.E1542* SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E1542*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E1542* NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1542 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTTATTTTTTCCTCTGTTCCA 0.403000 44 15 2.26627e-22 3.64863e-22 1 1 0 PCDH8 5100 broad.mit.edu 37 13 53420605 53420605 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:53420605T>A ENST00000377942.3 - 1 2170 c.1967A>T c.(1966-1968)cAg>cTg p.Q656L PCDH8_ENST00000338862.4_Missense_Mutation_p.Q656L NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 656 Cadherin 6. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GCGCGGCTCCTGCTGCTGCAG 0.711000 10 7 0 0 1 0 0 INTS4P1 285905 broad.mit.edu 37 7 64601717 64601717 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:64601717C>A ENST00000587624.1 + 0 115 CCATTGGCAGCCTGCGCGGGC 0.692000 3 0 0.115264 0.117317 1 1 0 SLC16A3 9123 broad.mit.edu 37 17 80195044 80195044 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:80195044C>T ENST00000581287.1 + 3 2720 c.398C>T c.(397-399)tCg>tTg p.S133L SLC16A3_ENST00000582743.1_Missense_Mutation_p.S133L|SLC16A3_ENST00000392341.1_Missense_Mutation_p.S133L|SLC16A3_ENST00000392339.1_Missense_Mutation_p.S133L|SLC16A3_ENST00000584781.1_3'UTR NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 133 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TTCCAGCCCTCGCTCATCATG 0.642000 4 6 0 0 1 0 0 CFLAR 8837 broad.mit.edu 37 2 202025397 202025397 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:202025397C>G ENST00000309955.2 + 9 1551 c.1036C>G c.(1036-1038)Cct>Gct p.P346A CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000443227.1_Missense_Mutation_p.P250A|CFLAR_ENST00000340870.5_Missense_Mutation_p.P346A|CFLAR_ENST00000479953.2_Missense_Mutation_p.P250A|CFLAR_ENST00000341582.6_Missense_Mutation_p.P311A|CFLAR_ENST00000423241.2_Missense_Mutation_p.P346A|CFLAR_ENST00000457277.1_Missense_Mutation_p.P346A NM_003879.5 NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 346 Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 AGATTCATGCCCTTATCTAGC 0.547000 23 52 0 0 1 0 0 LMAN1 3998 broad.mit.edu 37 18 56998708 56998708 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:56998708G>A ENST00000251047.5 - 12 2155 c.1438C>T c.(1438-1440)Cac>Tac p.H480Y NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 480 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) ATAATGAAGTGGACCGTAGAC 0.353000 33 20 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86581052 86581052 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:86581052C>A ENST00000370571.2 - 4 1867 c.1501G>T c.(1501-1503)Ggt>Tgt p.G501C COL24A1_ENST00000436319.1_Missense_Mutation_p.G501C NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 501 Collagen-like 1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CCTGCTGGACCAGGTGGACCC 0.443000 6 26 5.18039e-06 5.98605e-06 1 1 0 RIMS3 9783 broad.mit.edu 37 1 41092230 41092230 + Nonsense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:41092230G>A ENST00000372684.3 - 8 1355 c.886C>T c.(886-888)Cag>Tag p.Q296* RIMS3_ENST00000372683.1_Nonsense_Mutation_p.Q296* NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 296 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) AGGGAAGACTGGGACAGGCGC 0.642000 12 21 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80663933 80663933 + Splice_Site SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:80663933T>A ENST00000458043.2 + 22 2496 c.2491_splice c.e22+1 p.A830_splice OTOGL_ENST00000547103.1_Splice_Site_p.A830_splice NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CGCCCTCTGCTGGTAAGATCT 0.398000 OREG0011204|OREG0022007 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model 6 15 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17644423 17644423 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:17644423G>T ENST00000335393.4 + 5 571 c.433G>T c.(433-435)Ggc>Tgc p.G145C FAM129C_ENST00000300971.2_Missense_Mutation_p.G145C|FAM129C_ENST00000599124.1_Missense_Mutation_p.G114C|FAM129C_ENST00000599164.1_Missense_Mutation_p.G114C|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000600871.1_Missense_Mutation_p.G91C|FAM129C_ENST00000601861.1_Missense_Mutation_p.G114C|FAM129C_ENST00000595684.1_Missense_Mutation_p.G145C|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000352727.3_Missense_Mutation_p.G145C|FAM129C_ENST00000332386.5_Missense_Mutation_p.G145C NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 145 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 CCACTGCCTTGGCTCAACAGC 0.537000 34 14 8.73648e-17 1.28794e-16 1 1 0 CREBBP 1387 broad.mit.edu 37 16 3900443 3900443 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:3900443C>A ENST00000262367.5 - 2 1462 c.653G>T c.(652-654)aGa>aTa p.R218I CREBBP_ENST00000382070.3_Missense_Mutation_p.R218I NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 218 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCCCCTTCCTCTGCCAGCAGC 0.572000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 21 48 1.15919e-05 1.32504e-05 1 1 0 TBR1 10716 broad.mit.edu 37 2 162273126 162273126 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:162273126C>A ENST00000389554.3 + 1 522 c.205C>A c.(205-207)Cct>Act p.P69T NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 69 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 AGACAATTTTCCTGACTCCAA 0.493000 41 61 1.96642e-18 2.97869e-18 1 1 0 NLGN4X 57502 broad.mit.edu 37 X 6069136 6069136 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:6069136C>T ENST00000381095.3 - 2 999 c.372G>A c.(370-372)ctG>ctA p.L124L NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Silent_p.L124L|NLGN4X_ENST00000381092.1_Silent_p.L124L|NLGN4X_ENST00000381093.2_Silent_p.L124L|NLGN4X_ENST00000538097.1_Silent_p.L124L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 124 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 ACCAGATGGGCAGCATGTCAT 0.488000 35 15 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55976589 55976589 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:55976589C>A ENST00000263923.4 - 9 1531 c.1236G>T c.(1234-1236)gtG>gtT p.V412V NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 412 Ig-like C2-type 4. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CCAGAGAGACCACATGGCTCT 0.438000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 31 49 3.99451e-17 5.91219e-17 1 1 0 KCNT1 57582 broad.mit.edu 37 9 138669316 138669316 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:138669316C>T ENST00000298480.5 + 21 2556 c.2482C>T c.(2482-2484)Cgc>Tgc p.R828C KCNT1_ENST00000263604.3_Missense_Mutation_p.R809C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R828C|KCNT1_ENST00000491806.2_Missense_Mutation_p.R795C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R807C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R809C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R783C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R787C B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 828 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CTACAGATCCCGCAAGGAGCT 0.632000 14 13 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49660542 49660542 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:49660542C>A ENST00000339139.4 - 10 912 c.676G>T c.(676-678)Gag>Tag p.E226* NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 226 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TTGAGTAACTCATGTTCACAG 0.398000 26 58 9.57634e-11 1.25933e-10 1 1 0 MNX1 3110 broad.mit.edu 37 7 156798543 156798543 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:156798543G>A ENST00000252971.6 - 3 1177 c.877C>T c.(877-879)Cgg>Tgg p.R293W MNX1_ENST00000469500.1_Intron|MNX1_ENST00000543409.1_Missense_Mutation_p.R81W NM_005515.3 NP_005506.3 P50219 MNX1_HUMAN motor neuron and pancreas homeobox 1 293 R -> Q (in CURRAS).|R -> W (in CURRAS). humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATTTCATCCGCCGGTTCTGG 0.687000 20 58 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113533149 113533149 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:113533149C>A ENST00000257600.3 + 8 2071 c.1568C>A c.(1567-1569)cCc>cAc p.P523H DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 523 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CACCCCAACCCCGGGAAGAAG 0.602000 19 48 0.00074312 0.000802527 1 1 0 PPP1R16B 26051 broad.mit.edu 37 20 37547006 37547006 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:37547006G>A ENST00000299824.1 + 11 1590 c.1401G>A c.(1399-1401)ccG>ccA p.P467P PPP1R16B_ENST00000373331.2_Silent_p.P425P NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 467 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) ACGCCACCCCGCCCTGGAGCA 0.637000 13 64 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46318943 46318943 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:46318943C>A ENST00000245934.7 - 27 3944 c.3700G>T c.(3700-3702)Ggc>Tgc p.G1234C SYMPK_ENST00000598155.1_5'UTR NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 1234 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GTCAGCCCGCCCGCTGCCGTC 0.697000 15 1 0.000422831 0.000463027 1 1 0 CLTCL1 8218 broad.mit.edu 37 22 19195815 19195815 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:19195815C>A ENST00000263200.10 - 22 3521 c.3449G>T c.(3448-3450)tGg>tTg p.W1150L CLTCL1_ENST00000353891.5_Missense_Mutation_p.W1150L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.W1150L NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1150 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) TAGATCCTCCCAGTTGTCTAA 0.413000 T ? ALCL 45 61 4.18559e-23 6.81994e-23 1 1 0 CABS1 85438 broad.mit.edu 37 4 71201323 71201323 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:71201323C>A ENST00000273936.4 + 1 626 c.567C>A c.(565-567)agC>agA p.S189R NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 189 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CTGATATGAGCAATTATAATT 0.478000 19 36 2.94398e-08 3.65172e-08 1 1 0 LSG1 55341 broad.mit.edu 37 3 194387271 194387271 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:194387271T>A ENST00000265245.5 - 3 571 c.257A>T c.(256-258)gAg>gTg p.E86V NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 86 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) AGTTCTAGCCTCAGCAGGCAC 0.383000 28 51 0 0 1 0 0 ATOH1 474 broad.mit.edu 37 4 94750294 94750294 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:94750294T>A ENST00000306011.3 + 1 253 c.217T>A c.(217-219)Tgc>Agc p.C73S NM_005172.1 NP_005163.1 Q92858 ATOH1_HUMAN atonal homolog 1 (Drosophila) 73 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) GCAGGGCATCTGCACGGCACG 0.687000 10 11 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39119034 39119034 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:39119034T>C ENST00000351578.6 - 15 2395 c.2205A>G c.(2203-2205)ctA>ctG p.L735L FYB_ENST00000512982.1_Silent_p.L781L|FYB_ENST00000540520.1_Silent_p.L791L|FYB_ENST00000505428.1_Silent_p.L781L|FYB_ENST00000515010.1_Silent_p.L735L NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 735 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) GTATAACTTCTAGAGATTCAC 0.343000 18 35 0 0 1 0 0 OR2AG1 144125 broad.mit.edu 37 11 6807026 6807026 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:6807026G>T ENST00000307401.4 + 1 779 c.758G>T c.(757-759)gGa>gTa p.G253V NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATGTTCTATGGAGCTGCCACA 0.478000 46 48 1.00776e-21 1.60679e-21 1 1 0 SHANK2 22941 broad.mit.edu 37 11 70336381 70336381 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:70336381C>A ENST00000409530.1 - 8 783 c.784G>T c.(784-786)Ggt>Tgt p.G262C SHANK2_ENST00000409161.1_Splice_Site_p.D255_splice|SHANK2_ENST00000357171.3_Missense_Mutation_p.G263C|SHANK2_ENST00000338508.4_Splice_Site_p.D852_splice|SHANK2_ENST00000423696.2_Splice_Site_p.D472_splice|SHANK2_ENST00000449833.2_Splice_Site_p.D256_splice|SHANK2_ENST00000449116.2_Missense_Mutation_p.G253C Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 472 PDZ. intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CACTTCTTACCTATTGATTTC 0.577000 35 30 1.99505e-19 3.06265e-19 1 1 0 ADAMTSL4 54507 broad.mit.edu 37 1 150525637 150525637 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:150525637C>T ENST00000271643.4 + 5 578 c.342C>T c.(340-342)taC>taT p.Y114Y RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.Y114Y|ADAMTSL4_ENST00000369041.5_Silent_p.Y114Y|ADAMTSL4_ENST00000369039.5_Silent_p.Y114Y NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 114 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TCCCCTTGTACAGGACACAGT 0.667000 18 82 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6942512 6942512 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:6942512G>C ENST00000317834.3 + 1 308 c.280G>C c.(280-282)Gtc>Ctc p.V94L NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TACTAGCATTGTCCCTCAAGT 0.393000 9 136 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464825 2464825 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:2464825C>A ENST00000278772.4 - 6 1269 c.782G>T c.(781-783)aGg>aTg p.R261M RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 TAAGAGGGTCCTCGGGTTTGT 0.433000 34 37 1.99505e-19 3.06265e-19 1 1 0 C17orf47 284083 broad.mit.edu 37 17 56621440 56621440 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:56621440G>A ENST00000321691.3 - 1 289 c.108C>T c.(106-108)gcC>gcT p.A36A RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 36 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) GATGGCTTGAGGCAAGAACGT 0.537000 68 80 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18151882 18151882 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:18151882C>T ENST00000327031.4 - 18 2397 c.2172G>A c.(2170-2172)ccG>ccA p.P724P FLII_ENST00000579294.1_Silent_p.P713P|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Silent_p.P669P|FLII_ENST00000379450.4_Silent_p.P638P NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 724 Interaction with ACTL6A. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GCTTGGGCTGCGGCGGCCAGA 0.622000 OREG0024225 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 68 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830562 61830562 + Missense_Mutation SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:61830562T>G ENST00000280772.1 - 37 10268 c.10077A>C c.(10075-10077)gaA>gaC p.E3359D ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3359 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TACTTTCCAGTTCTTTCTGGT 0.398000 73 99 0 0 1 0 0 BEST2 54831 broad.mit.edu 37 19 12866460 12866460 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:12866460T>A ENST00000549706.1 + 7 1070 c.746T>A c.(745-747)cTg>cAg p.L249Q BEST2_ENST00000553030.1_Missense_Mutation_p.L249Q|BEST2_ENST00000042931.1_Missense_Mutation_p.L249Q Q8NFU1 BEST2_HUMAN bestrophin 2 249 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 AGCTACTTCCTGGCTTGCCTC 0.577000 52 12 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196791228 196791228 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:196791228C>G ENST00000312428.6 - 22 3634 c.3534G>C c.(3532-3534)tgG>tgC p.W1178C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1178 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCTGTCCAGGCCAATCCCTTA 0.368000 15 55 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26529696 26529696 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:26529696G>T ENST00000256737.3 + 5 1330 c.478G>T c.(478-480)Ggc>Tgc p.G160C ANO3_ENST00000525139.1_Missense_Mutation_p.G144C|ANO3_ENST00000531646.1_Missense_Mutation_p.G160C|ANO3_ENST00000537978.1_Missense_Mutation_p.G144C|ANO3_ENST00000531568.1_Missense_Mutation_p.G14C NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 160 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GTTCAAAGATGGCAAAAAGAG 0.333000 17 36 8.60227e-14 1.20254e-13 1 1 0 IGFBP5 3488 broad.mit.edu 37 2 217543652 217543652 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:217543652G>T ENST00000233813.4 - 2 1237 c.488C>A c.(487-489)tCc>tAc p.S163Y NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 163 negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACAAACTTGGACTGGGTCAG 0.587000 6 22 2.0095e-06 2.34573e-06 1 1 0 CNBD2 140894 broad.mit.edu 37 20 34572670 34572670 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:34572670A>T ENST00000373973.3 + 6 859 c.686A>T c.(685-687)aAg>aTg p.K229M CNBD2_ENST00000538900.1_Missense_Mutation_p.K229M|CNBD2_ENST00000349339.1_Missense_Mutation_p.K229M cyclic nucleotide binding domain containing 2 GAAGTTCAGAAGGATGCTCAG 0.443000 23 95 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26655804 26655804 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:26655804C>T ENST00000256737.3 + 19 2779 c.1927C>T c.(1927-1929)Ctc>Ttc p.L643F ANO3_ENST00000525139.1_Missense_Mutation_p.L627F|ANO3_ENST00000537978.1_Missense_Mutation_p.L627F|ANO3_ENST00000531568.1_Missense_Mutation_p.L497F NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 643 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GAAGATGTTCCTCTTCCAGTT 0.398000 5 32 0 0 1 0 0 ARF5 381 broad.mit.edu 37 7 127229589 127229589 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:127229589G>T ENST00000000233.5 + 3 353 c.199G>T c.(199-201)Gac>Tac p.D67Y ARF5_ENST00000467281.1_3'UTR|GCC1_ENST00000497650.1_Intron NM_001662.3 NP_001653.1 P84085 ARF5_HUMAN ADP-ribosylation factor 5 67 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding cervix(2)|kidney(1)|lung(10)|ovary(1) 14 CACAGTCTGGGACGTGGGAGG 0.473000 18 67 6.49762e-13 8.94024e-13 1 1 0 CECR5 27440 broad.mit.edu 37 22 17619579 17619579 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:17619579C>T ENST00000336737.4 - 7 821 c.796G>A c.(796-798)Gtg>Atg p.V266M CECR5_ENST00000155674.5_Missense_Mutation_p.V236M|CECR5_ENST00000399852.3_Intron NM_033070.2 NP_149061.1 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 266 hydrolase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1) 21 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) TTGCCCGTCACTTTCTGGTAA 0.562000 65 136 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49846437 49846437 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:49846437G>T ENST00000376088.3 + 9 1507 c.866G>T c.(865-867)tGc>tTc p.C289F CLCN5_ENST00000376091.3_Missense_Mutation_p.C289F|CLCN5_ENST00000307367.2_Missense_Mutation_p.C219F|CLCN5_ENST00000376108.3_Missense_Mutation_p.C219F NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 219 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) CACGTGGCTTGCTGCTGTGGG 0.498000 13 6 0.00010058 0.000112124 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169461402 169461402 + Splice_Site SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:169461402G>C ENST00000256935.8 + 35 3547 c.e35-1 DOCK2_ENST00000520908.1_Splice_Site|DOCK2_ENST00000523351.1_Splice_Site|DOCK2_ENST00000540750.1_Splice_Site NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCTGCCGCAGCCTGATGGAA 0.582000 4 26 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55971129 55971129 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:55971129T>A ENST00000263923.4 - 13 1963 c.1668A>T c.(1666-1668)caA>caT p.Q556H NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 556 Ig-like C2-type 6. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GCATGTCAGGTTGCAAAGTAA 0.468000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 22 34 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30407986 30407986 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:30407986G>T ENST00000375994.2 + 2 383 c.110G>T c.(109-111)gGc>gTc p.G37V MYLK2_ENST00000375985.4_Missense_Mutation_p.G37V Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 37 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AAAGACCCTGGCCCCCCAGAC 0.592000 75 20 3.4779e-39 6.31032e-39 1 1 0 GABRA1 2554 broad.mit.edu 37 5 161300254 161300254 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:161300254C>A ENST00000428797.2 + 6 742 c.387C>A c.(385-387)caC>caA p.H129Q GABRA1_ENST00000023897.6_Missense_Mutation_p.H129Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.H129Q|GABRA1_ENST00000393943.4_Missense_Mutation_p.H129Q|GABRA1_ENST00000444819.1_Missense_Mutation_p.H129Q|GABRA1_ENST00000437025.2_Missense_Mutation_p.H129Q NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 129 Missing (in Ref. 4; CAA31925). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CATTTTTCCACAATGGAAAGA 0.463000 41 18 9.85521e-28 1.67945e-27 1 1 0 LYRM4 57128 broad.mit.edu 37 6 5216971 5216971 + Splice_Site SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:5216971T>A ENST00000330636.4 - 2 292 c.86_splice c.e2-1 p.R29_splice LYRM4_ENST00000468929.1_Intron|LYRM4_ENST00000464010.1_Splice_Site_p.R29_splice|LYRM4_ENST00000480566.1_Splice_Site_p.R29_splice|LYRM4_ENST00000500576.2_Splice_Site_p.R29_splice NM_020408.4 NP_065141.3 Q9HD34 LYRM4_HUMAN LYR motif containing 4 29 mitochondrion|nucleus endometrium(1) 1 Ovarian(93;0.11) all_hematologic(90;0.0901) CAGCATATGTTCTAAATGAAT 0.338000 64 12 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109611946 109611946 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:109611946G>T ENST00000338432.7 + 7 1246 c.1127G>T c.(1126-1128)aGt>aTt p.S376I ACACB_ENST00000377854.5_Missense_Mutation_p.S376I|ACACB_ENST00000377848.3_Missense_Mutation_p.S376I O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 376 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGCCCTCCCAGTGAGGCCATG 0.632000 6 13 0.00116845 0.00125275 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186055509 186055509 + Nonsense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:186055509A>T ENST00000271588.4 + 58 9245 c.9016A>T c.(9016-9018)Aaa>Taa p.K3006* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.K3006* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3006 Ig-like C2-type 28. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACAGCCCATCAAACTGAACAC 0.388000 34 33 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79419842 79419842 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:79419842G>T ENST00000307745.7 + 18 4410 c.4410G>T c.(4408-4410)acG>acT p.T1470T CACGTCCCACGGGGCCGCTCC 0.711000 11 5 4.68919e-08 5.78268e-08 1 1 0 HS3ST1 9957 broad.mit.edu 37 4 11400839 11400839 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:11400839C>T ENST00000002596.5 - 2 1965 c.791G>A c.(790-792)cGc>cAc p.R264H NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 264 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 ATGTAAGCAGCGGTCCCGGCC 0.502000 22 44 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158281283 158281283 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:158281283G>C ENST00000296526.7 + 13 2604 c.2279G>C c.(2278-2280)gGa>gCa p.G760A GRIA2_ENST00000393815.2_Missense_Mutation_p.G713A|GRIA2_ENST00000449365.1_Missense_Mutation_p.G713A|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000507898.1_Missense_Mutation_p.G713A|GRIA2_ENST00000264426.9_Missense_Mutation_p.G760A NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 760 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 NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ACACCTAAAGGATCCTCATTA 0.423000 40 48 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7725036 7725036 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:7725036C>A ENST00000303635.7 + 9 2636 c.2429C>A c.(2428-2430)gCg>gAg p.A810E CAMTA1_ENST00000439411.2_Missense_Mutation_p.A810E NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 810 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.A810V(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 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) GAGGACGGGGCGCGGGCCCCC 0.677000 T WWTR1 epitheliod hemangioendothelioma 79 67 1.77355e-41 3.24569e-41 1 1 0 ZMAT4 79698 broad.mit.edu 37 8 40554902 40554902 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:40554902C>A ENST00000297737.6 - 4 357 c.211G>T c.(211-213)Gtg>Ttg p.V71L ZMAT4_ENST00000315769.7_Missense_Mutation_p.V71L NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 71 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) TTCTTATCCACCATGTCGGCA 0.478000 14 42 7.93312e-07 9.41583e-07 1 1 0 RPA2 6118 broad.mit.edu 37 1 28233752 28233752 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:28233752C>A ENST00000373912.3 - 3 458 c.159G>T c.(157-159)caG>caT p.Q53H RPA2_ENST00000373909.3_Missense_Mutation_p.Q61H|RPA2_ENST00000313433.7_Missense_Mutation_p.Q141H NM_002946.3 NP_002937.1 P15927 RFA2_HUMAN replication protein A2, 32kDa 53 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|PML body protein phosphatase binding|single-stranded DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1) 11 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649) CAGAAAGCAGCTGAGATATAG 0.368000 Direct reversal of damage;Nucleotide excision repair (NER) 23 105 6.44725e-10 8.36005e-10 1 1 0 HOXA10 3206 broad.mit.edu 37 7 27211532 27211532 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:27211532A>T ENST00000283921.4 - 2 1218 c.1219T>A c.(1219-1221)Ttt>Att p.F407I HOXA10_ENST00000396344.4_Missense_Mutation_p.F91I|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron|HOXA-AS4_ENST00000519935.1_RNA NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 407 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 GAAAAATTAAAGTTGGCTGTG 0.517000 18 119 0 0 1 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140616383 140616383 + RNA SNP G G A rs1985582 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140616383G>A ENST00000526308.1 + 0 2446 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CCAGTACGAGGTGTGTCTGAC 0.612000 102 14 0 0 1 0 0 FAM76B 143684 broad.mit.edu 37 11 95504787 95504787 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:95504787C>A ENST00000358780.5 - 10 1270 c.958G>T c.(958-960)Gtc>Ttc p.V320F FAM76B_ENST00000536839.1_Missense_Mutation_p.V319F NM_144664.4 NP_653265.3 Q5HYJ3 FA76B_HUMAN family with sequence similarity 76, member B 320 breast(1)|kidney(1)|lung(1) 3 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AATGCTGCGACCTGTTTGAGT 0.318000 9 59 3.09899e-07 3.74398e-07 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186008061 186008061 + Silent SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:186008061A>T ENST00000271588.4 + 38 6181 c.5952A>T c.(5950-5952)tcA>tcT p.S1984S HMCN1_ENST00000367492.2_Silent_p.S1984S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1984 Ig-like C2-type 17. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CCCAGATCTCAGATGCTGGCA 0.418000 18 79 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190250821 190250821 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:190250821G>A ENST00000367462.3 - 3 527 c.296C>T c.(295-297)tCt>tTt p.S99F FAM5C_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 99 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGGCAGAGGAGAGCCAAGGAA 0.403000 11 42 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123594234 123594234 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:123594234A>G ENST00000340011.5 + 3 967 c.610A>G c.(610-612)Ata>Gta p.I204V SPAM1_ENST00000439500.1_Missense_Mutation_p.I204V|SPAM1_ENST00000223028.7_Missense_Mutation_p.I204V|SPAM1_ENST00000402183.2_Missense_Mutation_p.I204V|SPAM1_ENST00000460182.1_Missense_Mutation_p.I204V NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 204 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GGTAGAGACTATAAAATTGGG 0.388000 53 86 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434459 179434459 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:179434459T>A ENST00000589042.1 - 326 76624 c.76400A>T c.(76399-76401)gAa>gTa p.E25467V TTN_ENST00000359218.5_Missense_Mutation_p.E16527V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16594V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22899V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E23826V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E16402V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23826 Fibronectin type-III 85. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCTCTACTTCTATGTTTGT 0.388000 19 33 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209369 140209369 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140209369C>T ENST00000529310.1 + 1 1807 c.1693C>T c.(1693-1695)Ctg>Ttg p.L565L PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCCGGCGCTGCTGGCGCC 0.692000 13 62 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64167094 64167094 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:64167094G>T ENST00000395391.1 + 4 1787 c.412G>T c.(412-414)Gga>Tga p.G138* ZNF107_ENST00000344930.3_Nonsense_Mutation_p.G138*|ZNF107_ENST00000423627.1_Nonsense_Mutation_p.G138* Q9UII5 ZN107_HUMAN zinc finger protein 107 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) TGAAGAATGTGGAAAAGCCTT 0.353000 20 9 8.00594e-06 9.2152e-06 1 1 0 TNFRSF8 943 broad.mit.edu 37 1 12144548 12144548 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:12144548G>A ENST00000263932.2 + 2 313 c.91G>A c.(91-93)Gga>Aga p.G31R TNFRSF8_ENST00000417814.2_Intron NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 31 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CACCTGTCATGGAAACCCCAG 0.597000 26 31 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56204702 56204702 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:56204702G>A ENST00000361673.3 - 5 2930 c.2717C>T c.(2716-2718)gCc>gTc p.A906V RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 906 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTCTCCTGTGGCACCTTCACT 0.527000 25 17 0 0 1 0 0 ALG9 79796 broad.mit.edu 37 11 111747647 111747647 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:111747647C>A ENST00000524880.1 - 3 710 c.418G>T c.(418-420)Gaa>Taa p.E140* FDXACB1_ENST00000542429.1_5'UTR|FDXACB1_ENST00000260257.4_Nonsense_Mutation_p.E140* Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase 0 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) TTGTGCCATTCTCTCTGGGGC 0.532000 7 9 8.12818e-05 9.07474e-05 1 1 0 GUCY1A3 2982 broad.mit.edu 37 4 156634249 156634249 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:156634249G>T ENST00000296518.7 + 7 1295 c.e7-1 GUCY1A3_ENST00000393832.3_Splice_Site|GUCY1A3_ENST00000511507.1_Splice_Site|GUCY1A3_ENST00000455639.2_Splice_Site|GUCY1A3_ENST00000513574.1_Splice_Site|GUCY1A3_ENST00000506455.1_Splice_Site|GUCY1A3_ENST00000511108.1_Splice_Site Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TTCCTTCATAGGTTATGGACC 0.388000 39 44 1.07637e-12 1.47554e-12 1 1 0 SEMA3G 56920 broad.mit.edu 37 3 52476874 52476874 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:52476874G>A ENST00000231721.2 - 2 164 c.165C>T c.(163-165)tcC>tcT p.S55S NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 55 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GGAGGTTCAGGGAGCCCTGGG 0.622000 6 3 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17955043 17955043 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:17955043C>A ENST00000458235.1 - 2 283 c.184_splice c.e2+1 p.G62_splice JAK3_ENST00000534444.1_Splice_Site_p.G62_splice|JAK3_ENST00000527670.1_Splice_Site_p.G62_splice|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 62 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.G62S(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 ATGCACTCACCGCTGGCCTTG 0.647000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 5 2 0.000602214 0.000653205 1 1 0 OR2A2 442361 broad.mit.edu 37 7 143807534 143807534 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:143807534C>A ENST00000408979.2 + 1 928 c.859C>A c.(859-861)Ctg>Atg p.L287M NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L287M(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GCTGAACCCCCTGATCTACAG 0.502000 75 117 2.34191e-24 3.87536e-24 1 1 0 RNF216 54476 broad.mit.edu 37 7 5680882 5680882 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:5680882A>C ENST00000425013.2 - 15 2338 c.2114T>G c.(2113-2115)gTt>gGt p.V705G RNF216_ENST00000389902.3_Missense_Mutation_p.V762G|RNF216_ENST00000469375.1_5'UTR NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 705 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) ATTAATAGAAACTCGACAGAG 0.517000 33 109 0 0 1 0 0 CAPN11 11131 broad.mit.edu 37 6 44144651 44144651 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:44144651G>T ENST00000398776.1 + 11 1191 c.1153G>T c.(1153-1155)Gac>Tac p.D385Y CAPN11_ENST00000542245.1_Missense_Mutation_p.D385Y NM_007058.3 NP_008989.2 Q9UMQ6 CAN11_HUMAN calpain 11 385 Domain III. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACTCTCTGGGGACTACAAGAG 0.612000 103 191 9.6635e-32 1.70142e-31 1 1 0 TACSTD2 4070 broad.mit.edu 37 1 59042733 59042733 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:59042733G>T ENST00000371225.2 - 1 433 c.96C>A c.(94-96)gaC>gaA p.D32E NM_002353.2 NP_002344.2 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 32 cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity all_cancers(7;6.54e-05) ACGTGCAGTTGTCCTGCGCGG 0.761000 3 3 0.004672 0.00490296 1 1 0 SERPINA1 5265 broad.mit.edu 37 14 94848951 94848951 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:94848951C>A ENST00000448921.1 - 4 1196 c.624G>T c.(622-624)ctG>ctT p.L208L SERPINA1_ENST00000402629.1_Silent_p.L208L|SERPINA1_ENST00000355814.4_Silent_p.L208L|SERPINA1_ENST00000393088.4_Silent_p.L208L|SERPINA1_ENST00000393087.4_Silent_p.L208L|SERPINA1_ENST00000449399.3_Silent_p.L208L|SERPINA1_ENST00000440909.1_Silent_p.L208L|SERPINA1_ENST00000404814.4_Silent_p.L208L|SERPINA1_ENST00000437397.1_Silent_p.L208L NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 208 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) TGTAATTCACCAGAGCAAAAA 0.413000 69 83 1.17253e-29 2.02838e-29 1 1 0 C15orf53 400359 broad.mit.edu 37 15 38990597 38990597 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:38990597C>T ENST00000318792.1 + 2 401 c.391C>T c.(391-393)Cgc>Tgc p.R131C NM_207444.2 NP_997327.1 Q8NAA6 CO053_HUMAN chromosome 15 open reading frame 53 131 p.R131G(1) endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 6 all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321) AACTGTGCCCCGCCGTTCACC 0.547000 34 13 0 0 1 0 0 CRYBG3 131544 broad.mit.edu 37 3 97605506 97605506 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:97605506C>T ENST00000182096.4 + 5 1404 c.1340C>T c.(1339-1341)cCa>cTa p.P447L NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 GAGCTTTTCCCACAATCTGAC 0.418000 40 80 0 0 1 0 0 TRIM60 166655 broad.mit.edu 37 4 165961674 165961674 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:165961674C>T ENST00000512596.1 + 3 666 c.450C>T c.(448-450)ccC>ccT p.P150P TRIM60_ENST00000508504.1_Silent_p.P150P|TRIM60_ENST00000341062.5_Silent_p.P150P NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 150 intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) GCCTTGAGCCCTTGAGGAATA 0.393000 25 45 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166416783 166416783 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:166416783T>A ENST00000402744.4 + 8 1566 c.1286T>A c.(1285-1287)cTg>cAg p.L429Q NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 429 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCAGGCTATCTGGCAATAACA 0.388000 38 64 0 0 1 0 0 FKBP10 60681 broad.mit.edu 37 17 39975632 39975632 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:39975632G>A ENST00000321562.4 + 5 1002 c.898G>A c.(898-900)Ggc>Agc p.G300S FKBP10_ENST00000544340.1_Missense_Mutation_p.G12S NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 300 PPIase FKBP-type 3. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) CTTGATGGACGGCACCCTCTT 0.652000 31 41 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407969 105407969 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:105407969C>A ENST00000333244.5 - 7 13938 c.13819G>T c.(13819-13821)Ggt>Tgt p.G4607C AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4607 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGCCGCGCACCATCCAGCATG 0.592000 155 116 8.37322e-65 1.59316e-64 1 1 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342480 60342480 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:60342480G>T ENST00000581291.1 - 0 1673 breast(2)|kidney(1)|lung(2) 5 TGAAGGGGGTGCCCTGGTCGG 0.622000 31 170 5.77227e-19 8.80657e-19 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158631160 158631160 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:158631160T>A ENST00000368148.3 - 18 2684 c.2504A>T c.(2503-2505)cAt>cTt p.H835L SPTA1_ENST00000368147.3_Missense_Mutation_p.H835L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 835 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GATGACTCTATGCCTATTCAG 0.423000 75 68 0 0 1 0 0 TCP11 6954 broad.mit.edu 37 6 35090087 35090087 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:35090087G>C ENST00000311875.5 - 5 841 c.424C>G c.(424-426)Cag>Gag p.Q142E TCP11_ENST00000244645.3_Missense_Mutation_p.Q67E|TCP11_ENST00000418521.2_Missense_Mutation_p.Q66E|TCP11_ENST00000412155.2_Missense_Mutation_p.Q91E|TCP11_ENST00000444780.2_Missense_Mutation_p.Q137E|TCP11_ENST00000512012.1_Missense_Mutation_p.Q129E|TCP11_ENST00000373974.4_Missense_Mutation_p.Q96E|TCP11_ENST00000373979.2_Missense_Mutation_p.Q67E Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 129 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 AGGCGGTTCTGGCGTGGTAAT 0.463000 94 13 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115336937 115336937 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:115336937G>T ENST00000357872.4 + 10 1944 c.e10+1 AQPEP_ENST00000395528.2_Splice_Site NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN proteolysis integral to membrane metallopeptidase activity|zinc ion binding TAACCAGCAAGTAGGTAGCTT 0.468000 38 84 1.08052e-11 1.44523e-11 1 1 0 PTBP2 58155 broad.mit.edu 37 1 97272445 97272445 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:97272445G>T ENST00000236228.6 + 11 1184 c.1102G>T c.(1102-1104)Gtg>Ttg p.V368L PTBP2_ENST00000426398.2_Missense_Mutation_p.V368L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.V373L|PTBP2_ENST00000541987.1_Silent_p.V325V|PTBP2_ENST00000370198.1_Missense_Mutation_p.V373L|PTBP2_ENST00000394184.3_Missense_Mutation_p.V384L NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 368 RRM 3. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) TGTGCAGCGTGTGAAGATTTT 0.348000 9 46 0.000442599 0.00048325 1 1 0 MGAT4B 11282 broad.mit.edu 37 5 179227064 179227064 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:179227064T>C ENST00000337755.5 - 7 1731 c.845A>G c.(844-846)gAg>gGg p.E282G MGAT4B_ENST00000292591.7_Missense_Mutation_p.E267G NM_054013.3 NP_463459.1 Q9UQ53 MGT4B_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B 267 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 13 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATGTCATCCTCCAGCTGCGA 0.627000 45 10 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247597426 247597426 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:247597426G>C ENST00000366497.2 + 6 3129 c.2349G>C c.(2347-2349)tcG>tcC p.S783S NLRP3_ENST00000366496.2_Silent_p.S783S|NLRP3_ENST00000336119.3_Silent_p.S783S|NLRP3_ENST00000391828.3_Silent_p.S783S|NLRP3_ENST00000348069.2_Silent_p.S726S|NLRP3_ENST00000391827.2_Silent_p.S726S NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 840 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GTGGCCTCTCGCATGAGTGCT 0.562000 26 74 0 0 1 0 0 IGHV3-9 28451 broad.mit.edu 37 14 106552576 106552576 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:106552576C>A ENST00000390600.2 - 0 142 CCACCAGCTGCACTTCACACT 0.517000 47 50 1.57945e-13 2.19763e-13 1 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118351339 118351339 + Missense_Mutation SNP G G T rs116575931 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:118351339G>T ENST00000528052.1 + 3 177 c.106G>T c.(106-108)Ggg>Tgg p.G36W PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.G36W|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.G36W|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.G36W P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 36 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GCCCTGGGGCGGGACAGCAAT 0.507000 91 25 1.42074e-37 2.55595e-37 1 1 0 OR2T4 127074 broad.mit.edu 37 1 248525578 248525578 + Nonsense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:248525578C>G ENST00000366475.1 + 1 696 c.696C>G c.(694-696)taC>taG p.Y232* NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTTCATGTACTTGTGCTGTG 0.488000 88 67 0 0 1 0 0 MRPS17 51373 broad.mit.edu 37 7 56020943 56020943 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:56020943G>T ENST00000285298.4 + 2 184 c.55G>T c.(55-57)Ggg>Tgg p.G19W MRPS17_ENST00000426595.1_Missense_Mutation_p.G114W NM_015969.2 NP_057053.1 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 19 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAAGGTGATTGGGACAAAAAT 0.443000 51 15 3.94638e-17 5.85846e-17 1 1 0 C7 730 broad.mit.edu 37 5 40936442 40936442 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:40936442C>A ENST00000313164.9 + 5 642 c.283C>A c.(283-285)Cag>Aag p.Q95K NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 95 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GTGTTCAGGTCAGTGCATCAG 0.463000 12 22 0.00185496 0.0019788 1 1 0 DSG4 147409 broad.mit.edu 37 18 28986191 28986191 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:28986191G>A ENST00000359747.4 + 12 1817 c.1788G>A c.(1786-1788)ctG>ctA p.L596L RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.L596L|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 596 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACATGTGCCTGGACTCTGGTG 0.493000 28 42 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6942412 6942412 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:6942412C>A ENST00000317834.3 + 1 208 c.180C>A c.(178-180)ctC>ctA p.L60L NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAAACCAGCTCATCATCATTC 0.423000 45 69 2.35958e-20 3.68701e-20 1 1 0 BNC1 646 broad.mit.edu 37 15 83932756 83932756 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:83932756G>T ENST00000345382.2 - 4 1332 c.1247C>A c.(1246-1248)cCa>cAa p.P416Q RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.P409Q NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 416 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TCTGTTCATTGGCATGTGCAG 0.542000 68 16 1.33661e-31 2.34776e-31 1 1 0 DMGDH 29958 broad.mit.edu 37 5 78338268 78338268 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:78338268C>T ENST00000255189.3 - 7 1059 c.1031G>A c.(1030-1032)cGa>cAa p.R344Q DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.R143Q NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 344 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTCCATGATTCGATCTAGATC 0.428000 6 88 0 0 1 0 0 ACSF3 197322 broad.mit.edu 37 16 89169122 89169122 + Nonsense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:89169122G>A ENST00000317447.4 + 4 1154 c.777G>A c.(775-777)tgG>tgA p.W259* ACSF3_ENST00000406948.3_Nonsense_Mutation_p.W259*|ACSF3_ENST00000378345.4_De_novo_Start_InFrame NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 259 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) GTCCTCTCTGGGTGGGAGCCA 0.617000 9 47 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142000795 142000795 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:142000795G>T ENST00000455382.2 + 0 49 AGCTAGGAAAGGCCTCATTCC 0.522000 25 40 7.87624e-14 1.10312e-13 1 1 0 H1FOO 132243 broad.mit.edu 37 3 129270135 129270135 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:129270135C>A ENST00000324382.2 + 5 998 c.993C>A c.(991-993)ccC>ccA p.P331P H1FOO_ENST00000503977.1_Silent_p.P192P NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 331 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CTGGGCTGCCCATCAAGGCCT 0.592000 16 29 0.00074312 0.000802527 1 1 0 OLFML2B 25903 broad.mit.edu 37 1 161967784 161967784 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:161967784C>T ENST00000294794.3 - 6 1728 c.1305G>A c.(1303-1305)ccG>ccA p.P435P OLFML2B_ENST00000367940.2_Silent_p.P436P NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 435 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GAGACACTGCCGGAGGAGCTG 0.612000 37 53 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135893221 135893221 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:135893221G>A ENST00000264158.8 + 17 1685 c.1642G>A c.(1642-1644)Gat>Aat p.D548N RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.D504N|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.D548N NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 548 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) ATATCCAGGGGATGCTGGAAA 0.403000 17 11 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124393414 124393414 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:124393414G>A ENST00000360013.3 + 49 7273 c.7146G>A c.(7144-7146)gcG>gcA p.A2382A KALRN_ENST00000428018.2_Silent_p.A653A|KALRN_ENST00000459915.1_Silent_p.A473A|KALRN_ENST00000291478.4_Silent_p.A685A|KALRN_ENST00000393496.1_Silent_p.A722A NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2381 SH3 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GCATCCTGGCGCCCCTCACCA 0.592000 3 17 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21474890 21474890 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:21474890G>T ENST00000313654.9 + 44 5722 c.5481G>T c.(5479-5481)atG>atT p.M1827I LAMA3_ENST00000399516.3_Missense_Mutation_p.M1827I|LAMA3_ENST00000269217.6_Missense_Mutation_p.M218I|LAMA3_ENST00000587184.1_Missense_Mutation_p.M218I NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1827 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTGTGTGATGACCCTCCTGA 0.607000 10 89 3.07112e-06 3.56816e-06 1 1 0 RYR2 6262 broad.mit.edu 37 1 237831200 237831200 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:237831200G>T ENST00000366574.2 + 58 8849 c.8532G>T c.(8530-8532)atG>atT p.M2844I RYR2_ENST00000542537.1_Missense_Mutation_p.M2828I|RYR2_ENST00000360064.6_Missense_Mutation_p.M2842I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2844 4 X approximate repeats.|Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGAAATGATGGCTGAAAACT 0.264000 6 4 0.00198382 0.0021102 1 1 0 ZNF516 9658 broad.mit.edu 37 18 74154840 74154840 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:74154840C>A ENST00000443185.2 - 3 488 c.171G>T c.(169-171)acG>acT p.T57T ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCTTCTCGCCCGTGTGCTTGC 0.612000 14 6 7.93312e-07 9.41583e-07 1 1 0 NPBWR2 2832 broad.mit.edu 37 20 62737890 62737890 + Missense_Mutation SNP G G C rs139545244 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:62737890G>C ENST00000369768.1 - 1 634 c.295C>G c.(295-297)Ccc>Gcc p.P99A NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 99 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) ATGTTGACGGGCAGTACCAGC 0.597000 14 10 0 0 1 0 0 EXOC8 149371 broad.mit.edu 37 1 231473257 231473257 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:231473257A>G ENST00000366645.1 - 1 341 c.223T>C c.(223-225)Tac>Cac p.Y75H SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_Missense_Mutation_p.Y79H Q8IYI6 EXOC8_HUMAN exocyst complex component 8 79 exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) CTCTCCAGGTAGGAGATCTCG 0.622000 22 21 0 0 1 0 0 TRMT11 60487 broad.mit.edu 37 6 126333971 126333971 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:126333971C>T ENST00000334379.5 + 10 1101 c.980C>T c.(979-981)cCa>cTa p.P327L TRMT11_ENST00000368332.3_Missense_Mutation_p.P327L NM_001031712.2 NP_001026882.2 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 homolog (S. cerevisiae) 327 tRNA processing methyltransferase activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(226;0.0356) AAGGAGATACCAAAGGGGATA 0.383000 14 28 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40316676 40316676 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:40316676G>T ENST00000593685.1 - 11 2037 c.1569C>A c.(1567-1569)caC>caA p.H523Q DYRK1B_ENST00000323039.5_Missense_Mutation_p.H523Q|DYRK1B_ENST00000430012.2_Missense_Mutation_p.H483Q|DYRK1B_ENST00000348817.3_Missense_Mutation_p.H495Q|DYRK1B_ENST00000597639.1_Missense_Mutation_p.H495Q Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 523 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GATGTGTCTTGTGGGGCACAT 0.647000 11 46 3.07112e-06 3.56816e-06 1 1 0 OVOL1 5017 broad.mit.edu 37 11 65561584 65561584 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:65561584G>C ENST00000335987.3 + 2 535 c.183G>C c.(181-183)ttG>ttC p.L61F OVOL1_ENST00000532448.1_5'UTR NM_004561.3 NP_004552.2 O14753 OVOL1_HUMAN ovo-like zinc finger 1 61 transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 READ - Rectum adenocarcinoma(159;0.17) CGCTGGCTTTGAACATGAGCC 0.642000 22 56 0 0 1 0 0 USP13 8975 broad.mit.edu 37 3 179501842 179501842 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:179501842G>T ENST00000263966.3 + 21 2976 c.2505G>T c.(2503-2505)gtG>gtT p.V835V USP13_ENST00000496897.1_Silent_p.V770V NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 835 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TCAGATGGGTGATTTACAATG 0.393000 44 84 3.76604e-16 5.49738e-16 1 1 0 PLEKHG2 64857 broad.mit.edu 37 19 39911931 39911931 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:39911931G>T ENST00000425673.1 + 14 1733 c.1408G>T c.(1408-1410)Gga>Tga p.G470* PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.G499*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.G499*|PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.G499*|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.G440* Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 499 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.G440R(1)|p.G457R(1)|p.G499R(1) breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGCTAAGCCTGGATTCAAGGT 0.468000 35 23 9.93527e-08 1.21713e-07 1 1 0 LRP2 4036 broad.mit.edu 37 2 170027171 170027171 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:170027171C>A ENST00000263816.3 - 59 11555 c.11270G>T c.(11269-11271)cGg>cTg p.R3757L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3757 LDL-receptor class A 32. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGTGCACTCCCGGGGAGCTGG 0.542000 60 58 1.4709e-25 2.4504e-25 1 1 0 LCK 3932 broad.mit.edu 37 1 32740506 32740506 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:32740506G>A ENST00000373564.3 + 2 274 c.274G>A c.(274-276)Ggt>Agt p.G92S LCK_ENST00000333070.4_Intron|LCK_ENST00000336890.5_Intron P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 201 SH3. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CTTTCTCCCCGGTCTTGCCTT 0.597000 T TRB@ T-ALL 25 18 0 0 1 0 0 DNAJB5 25822 broad.mit.edu 37 9 34997027 34997027 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:34997027T>A ENST00000541010.1 + 3 3830 c.818T>A c.(817-819)cTg>cAg p.L273Q DNAJB5_ENST00000454002.2_Missense_Mutation_p.L345Q|DNAJB5_ENST00000312316.5_Missense_Mutation_p.L273Q|DNAJB5_ENST00000453597.3_Missense_Mutation_p.L387Q|DNAJB5_ENST00000545841.1_Missense_Mutation_p.L273Q|DNAJB5_ENST00000335998.3_Missense_Mutation_p.L307Q O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 273 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) TCCCAGGCGCTGTGTGGCTGC 0.552000 62 33 0 0 1 0 0 TNFRSF1B 7133 broad.mit.edu 37 1 12262119 12262119 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:12262119G>C ENST00000376259.3 + 9 1085 c.996G>C c.(994-996)gaG>gaC p.E332D TNFRSF1B_ENST00000492361.1_3'UTR NM_001066.2 NP_001057.1 P20333 TNR1B_HUMAN tumor necrosis factor receptor superfamily, member 1B 332 apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GCTCCCTGGAGAGCTCGGCCA 0.706000 5 1 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136699744 136699744 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:136699744C>A ENST00000445907.2 + 3 660 c.132C>A c.(130-132)gtC>gtA p.V44V AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Silent_p.V44V|CHRM2_ENST00000402486.3_Silent_p.V44V|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.V44V|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Silent_p.V44V|CHRM2_ENST00000401861.1_Silent_p.V44V|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 44 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ACATCCTAGTCATGGTTTCCA 0.448000 53 96 6.27289e-28 1.07021e-27 1 1 0 SULT1E1 6783 broad.mit.edu 37 4 70723321 70723321 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:70723321G>C ENST00000226444.3 - 2 154 c.42C>G c.(40-42)gtC>gtG p.V14V NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 14 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 GAATCCCATGGACTTCTTCAA 0.338000 24 44 0 0 1 0 0 ZIC3 7547 broad.mit.edu 37 X 136649891 136649891 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:136649891C>T ENST00000287538.5 + 1 1591 c.1041C>T c.(1039-1041)atC>atT p.I347I ZIC3_ENST00000370606.3_Silent_p.I347I NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 347 Nuclear localization signal. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) ACCTCAAGATCCACAAGAGGA 0.607000 13 68 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577375 9577375 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:9577375G>T ENST00000301480.4 - 10 2461 c.2248C>A c.(2248-2250)Cgt>Agt p.R750S NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GAGGATGTACGGAAGGCCTTC 0.443000 97 29 9.47799e-51 1.76938e-50 1 1 0 LINC00639 283547 broad.mit.edu 37 14 39305001 39305001 + RNA SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:39305001G>C ENST00000553932.1 - 0 3561 GAGGACTGACGCTGTTGGCCT 0.597000 12 4 0 0 1 0 0 UBR7 55148 broad.mit.edu 37 14 93688707 93688707 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:93688707C>T ENST00000013070.6 + 10 1408 c.1172C>T c.(1171-1173)gCt>gTt p.A391V UBR7_ENST00000416753.1_Missense_Mutation_p.A315V NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) 391 ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 AAGAGATTTGCTGATGAAGGC 0.318000 12 37 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147114090 147114090 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:147114090C>A ENST00000383075.3 - 3 749 c.237G>T c.(235-237)ccG>ccT p.P79P ZIC4_ENST00000473123.1_Silent_p.P79P|ZIC4_ENST00000484399.1_Silent_p.P79P|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Silent_p.P117P|ZIC4_ENST00000525172.2_Silent_p.P129P NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 79 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 CAGGCCCTGGCGGGAAGGGCT 0.716000 14 14 4.36969e-10 5.69094e-10 1 1 0 RPAP2 79871 broad.mit.edu 37 1 92789788 92789788 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:92789788G>T ENST00000370343.3 + 8 1420 c.1311G>T c.(1309-1311)agG>agT p.R437S NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 437 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) TACCTTTTAGGGGCTCAGGTA 0.413000 48 51 1.86633e-21 2.963e-21 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885612 88885612 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:88885612C>T ENST00000319675.3 - 1 684 c.588G>A c.(586-588)gcG>gcA p.A196A NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 196 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AAGAGTGATACGCGTGGATGC 0.557000 21 139 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236145043 236145043 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:236145043C>T ENST00000264187.6 - 16 3177 c.3095G>A c.(3094-3096)gGc>gAc p.G1032D NID1_ENST00000366595.3_Missense_Mutation_p.G899D NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 1032 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GATGTTGCGGCCAAGGTGATC 0.478000 14 46 0 0 1 0 0 EIF3B 8662 broad.mit.edu 37 7 2418817 2418817 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:2418817C>T ENST00000360876.4 + 17 2337 c.2281C>T c.(2281-2283)Cgg>Tgg p.R761W EIF3B_ENST00000397011.2_Missense_Mutation_p.R761W NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 761 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CCGGAAGTACCGGAAAATGGC 0.532000 17 59 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071545 240071545 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:240071545T>A ENST00000255380.4 + 5 1573 c.794T>A c.(793-795)cTt>cAt p.L265H NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 265 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ACCAAAGAGCTTGCTGGCCTG 0.473000 48 26 0 0 1 0 0 MBNL1 4154 broad.mit.edu 37 3 152150694 152150694 + Silent SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:152150694A>T ENST00000282486.6 + 4 2376 c.534A>T c.(532-534)cgA>cgT p.R178R MBNL1_ENST00000498502.1_Silent_p.R178R|MBNL1_ENST00000324210.5_Silent_p.R178R|MBNL1_ENST00000485509.1_Silent_p.R178R|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000492948.1_Silent_p.R178R|MBNL1_ENST00000324196.5_Silent_p.R178R|MBNL1_ENST00000355460.2_Silent_p.R178R|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000463374.1_Silent_p.R178R|MBNL1_ENST00000357472.3_Silent_p.R178R|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000493459.1_Silent_p.R121R Q9NR56 MBNL1_HUMAN muscleblind-like splicing regulator 1 178 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AATTAATGCGAACAGACAGAC 0.463000 40 56 0 0 1 0 0 MSN 4478 broad.mit.edu 37 X 64955188 64955188 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:64955188G>T ENST00000360270.5 + 8 1027 c.855G>T c.(853-855)atG>atT p.M285I NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 285 FERM. leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 CCTTGTGCATGGGGAACCATG 0.542000 T ALK ALCL 6 3 0.00116845 0.00125275 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23526427 23526427 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:23526427T>C ENST00000296682.3 + 11 1412 c.1230T>C c.(1228-1230)aaT>aaC p.N410N NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 410 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TAGAACGCAATCACTCCTCTC 0.478000 HNSCC(3;0.000094) 17 129 0 0 1 0 0 TBC1D17 79735 broad.mit.edu 37 19 50384543 50384543 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:50384543C>T ENST00000221543.5 + 5 637 c.338C>T c.(337-339)cCc>cTc p.P113L TBC1D17_ENST00000598789.1_3'UTR|TBC1D17_ENST00000535102.2_Missense_Mutation_p.P80L NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 113 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CCCAGCTGCCCCCAGGGCTCC 0.632000 26 9 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191771 66191771 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:66191771G>T ENST00000311034.2 + 7 1586 c.1410G>T c.(1408-1410)ttG>ttT p.L470F NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 470 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTGATCAGTTGACGCCCAGCA 0.542000 12 209 4.3838e-07 5.27476e-07 1 1 0 TNXB 7148 broad.mit.edu 37 6 32053749 32053749 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:32053749G>A ENST00000375244.3 - 7 3127 c.2926C>T c.(2926-2928)Cgc>Tgc p.R976C TNXB_ENST00000375247.2_Missense_Mutation_p.R976C P22105 TENX_HUMAN tenascin XB 1063 Fibronectin type-III 2. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACACGGAGGCGCCCTGTCTCA 0.687000 54 11 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130189806 130189806 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:130189806T>A ENST00000265379.6 + 39 8063 c.7569T>A c.(7567-7569)acT>acA p.T2523T COL6A5_ENST00000432398.2_Silent_p.T2523T A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2523 Nonhelical region. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CAGAAAACACTGTATTGTGAG 0.403000 5 12 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161012027 161012027 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:161012027G>T ENST00000447678.1 - 24 3856 c.3736C>A c.(3736-3738)Cca>Aca p.P1246T LPA_ENST00000316300.5_Missense_Mutation_p.P1246T NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3754 Kringle 11. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TCTGTCACTGGACATTGTGTC 0.488000 10 19 2.17888e-05 2.4735e-05 1 1 0 TNRC6A 27327 broad.mit.edu 37 16 24788543 24788543 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:24788543G>C ENST00000395799.3 + 5 582 c.453G>C c.(451-453)agG>agC p.R151S TNRC6A_ENST00000315183.7_Missense_Mutation_p.R151S NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 151 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TTCTAAAGAGGGGTCAGCATT 0.493000 81 77 0 0 1 0 0 METTL21C 196541 broad.mit.edu 37 13 103343188 103343188 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:103343188C>A ENST00000267273.6 - 2 262 c.257G>T c.(256-258)aGt>aTt p.S86I NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 86 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 CGCTCCGTAACTCTCTATGGA 0.468000 19 31 1.33834e-09 1.71593e-09 1 1 0 ZEB1 6935 broad.mit.edu 37 10 31809607 31809607 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:31809607C>A ENST00000446923.2 + 7 1687 c.1296C>A c.(1294-1296)ccC>ccA p.P432P ZEB1_ENST00000361642.5_Silent_p.P449P|ZEB1_ENST00000560721.2_Silent_p.P428P|ZEB1_ENST00000542815.3_Silent_p.P381P|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Silent_p.P448P NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 448 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ATGCTTCACCCATACAACAAG 0.393000 22 40 1.96292e-10 2.56544e-10 1 1 0 COL4A4 1286 broad.mit.edu 37 2 227968758 227968758 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:227968758C>A ENST00000396625.3 - 13 953 c.746G>T c.(745-747)gGt>gTt p.G249V COL4A4_ENST00000329662.7_Missense_Mutation_p.G249V NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 249 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ACCTTGCTGACCAACCTCACC 0.378000 10 24 2.17888e-05 2.4735e-05 1 1 0 PLA2G2E 30814 broad.mit.edu 37 1 20249179 20249179 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:20249179A>T ENST00000375116.3 - 2 167 c.110T>A c.(109-111)cTg>cAg p.L37Q NM_014589.1 NP_055404.1 Q9NZK7 PA2GE_HUMAN phospholipase A2, group IIE 37 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTTGTACTGCAGGGCGGACTT 0.607000 12 39 0 0 1 0 0 WSB1 26118 broad.mit.edu 37 17 25630661 25630661 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:25630661G>T ENST00000262394.2 + 3 794 c.478_splice c.e3+1 p.G160_splice WSB1_ENST00000348811.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000581185.1_Splice_Site_p.G160_splice|WSB1_ENST00000427287.2_Splice_Site_p.G129_splice NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 160 intracellular signal transduction intracellular protein binding lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGTATATACAGGTATGGATTC 0.368000 62 113 1.39562e-46 2.5859e-46 1 1 0 C1orf173 127254 broad.mit.edu 37 1 75038040 75038040 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:75038040G>T ENST00000326665.5 - 14 3572 c.3354C>A c.(3352-3354)ccC>ccA p.P1118P C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1118 Glu-rich. p.P1118P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTTCATTTGGGGGAGCTTTTG 0.443000 23 64 7.41877e-09 9.33471e-09 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48356864 48356864 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:48356864A>T ENST00000435803.1 + 27 9994 c.9970A>T c.(9970-9972)Act>Tct p.T3324S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3324 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CACACCAAACACTCCAGAAAT 0.333000 17 33 0 0 1 0 0 CD44 960 broad.mit.edu 37 11 35231568 35231568 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:35231568G>T ENST00000428726.2 + 13 1696 c.1573G>T c.(1573-1575)Gac>Tac p.D525Y CD44_ENST00000263398.6_Intron|CD44_ENST00000433892.2_Missense_Mutation_p.D276Y|CD44_ENST00000278386.6_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000433354.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.D482Y|CD44_ENST00000437706.2_Missense_Mutation_p.D525Y|CD44_ENST00000449691.2_Missense_Mutation_p.D482Y|CD44_ENST00000434472.2_Intron|CD44_ENST00000526669.2_Intron NM_000610.3 NP_000601.3 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 525 Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) AGAAGATAAAGACCATCCAAC 0.378000 33 61 3.93418e-24 6.45988e-24 1 1 0 AGBL1 123624 broad.mit.edu 37 15 86814851 86814851 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:86814851G>T ENST00000441037.2 + 14 1946 c.1849_splice c.e14-1 p.G617_splice AGBL1_ENST00000421325.2_Splice_Site_p.G617_splice|AGBL1_ENST00000389298.3_Splice_Site_p.G348_splice NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 617 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TTTGTGTAGGGATGCAGCCCA 0.443000 42 19 2.77807e-22 4.46293e-22 1 1 0 STAC3 246329 broad.mit.edu 37 12 57643084 57643084 + Missense_Mutation SNP C C T rs146128235 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:57643084C>T ENST00000332782.2 - 3 275 c.74G>A c.(73-75)cGg>cAg p.R25Q STAC3_ENST00000554578.1_5'UTR|STAC3_ENST00000546246.2_Intron NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 25 intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 CTGCTTTAGCCGCTGTAGCTG 0.547000 32 49 0 0 1 0 0 DNAJB5 25822 broad.mit.edu 37 9 34993419 34993419 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:34993419G>T ENST00000541010.1 + 1 3201 c.189G>T c.(187-189)ctG>ctT p.L63L DNAJB5_ENST00000454002.2_Silent_p.L135L|DNAJB5_ENST00000312316.5_Silent_p.L63L|DNAJB5_ENST00000453597.3_Silent_p.L177L|DNAJB5_ENST00000545841.1_Silent_p.L63L|DNAJB5_ENST00000335998.3_Silent_p.L97L O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 63 J. protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) AACGGGGCCTGTATGACCAGT 0.552000 42 18 8.69298e-16 1.25904e-15 1 1 0 LILRP2 79166 broad.mit.edu 37 19 55222040 55222040 + RNA SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:55222040A>T ENST00000413439.1 + 0 1567 TGCGTCTGAGATCAGAGCACC 0.592000 122 15 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96079818 96079818 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:96079818C>T ENST00000297954.4 + 29 6644 c.6644C>T c.(6643-6645)gCa>gTa p.A2215V WNK2_ENST00000395477.2_Missense_Mutation_p.A2178V|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1790V|WNK2_ENST00000349097.3_Missense_Mutation_p.A1827V Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 2215 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GCACCTCGAGCAGGAGTGGGG 0.647000 9 12 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42357021 42357021 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:42357021C>A ENST00000554171.1 + 5 3625 c.1193C>A c.(1192-1194)tCa>tAa p.S398* LRFN5_ENST00000554120.1_Nonsense_Mutation_p.S398*|LRFN5_ENST00000298119.4_Nonsense_Mutation_p.S398* Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 398 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TCAGATATCTCAACTTCTACC 0.378000 HNSCC(30;0.082) 24 49 6.44725e-10 8.36005e-10 1 1 0 PTCHD2 57540 broad.mit.edu 37 1 11561834 11561834 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:11561834A>T ENST00000294484.6 + 2 923 c.785A>T c.(784-786)tAt>tTt p.Y262F PTCHD2_ENST00000389575.3_Missense_Mutation_p.Y262F NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 262 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TCGCGCGCCTATGTGAGTGCC 0.687000 4 10 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196386988 196386988 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:196386988G>T ENST00000328557.4 + 3 677 c.474G>T c.(472-474)tcG>tcT p.S158S NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species ACCTCTCCTCGCTGCGGTCCG 0.672000 11 26 1.08611e-07 1.324e-07 1 1 0 UNC5C 8633 broad.mit.edu 37 4 96091389 96091389 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:96091389C>T ENST00000453304.1 - 15 2894 c.2546G>A c.(2545-2547)cGg>cAg p.R849Q NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 849 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAGCTTCTGCCGGATAGGGAG 0.602000 22 108 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158590079 158590079 + Missense_Mutation SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:158590079T>G ENST00000368148.3 - 44 6478 c.6298A>C c.(6298-6300)Aaa>Caa p.K2100Q SPTA1_ENST00000368147.3_Missense_Mutation_p.K2097Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2100 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGCAAACATTTAAAGTCTGCT 0.522000 40 47 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140846823 140846823 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:140846823T>A ENST00000371372.1 + 7 1209 c.1064T>A c.(1063-1065)cTc>cAc p.L355H CACNA1B_ENST00000371363.1_Missense_Mutation_p.L355H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L355H|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L355H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L355H NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 355 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTGGGCGTGCTCTCGGGGTGA 0.607000 11 25 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58209235 58209235 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:58209235C>G ENST00000377918.3 + 1 2581 c.2555C>G c.(2554-2556)tCc>tGc p.S852C NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 852 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ACTCGGATGTCCATAATTCAG 0.547000 22 5 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140080784 140080784 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:140080784C>A ENST00000323927.2 - 3 769 c.765G>T c.(763-765)cgG>cgT p.R255R NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 255 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) CGGCACTGACCCGCTCCAGCA 0.667000 4 7 0.00024832 0.000274352 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168101943 168101943 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:168101943G>A ENST00000409195.1 + 9 4130 c.4041G>A c.(4039-4041)gtG>gtA p.V1347V XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V1125V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.V1347V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1172 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATGGAGATGTGCGAGGAACAA 0.383000 46 71 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767509 31767509 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:31767509G>T ENST00000240587.4 - 2 3517 c.3190C>A c.(3190-3192)Cac>Aac p.H1064N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 1064 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GATTTCCCGTGTGTTTTGCTA 0.478000 44 49 2.35958e-20 3.68701e-20 1 1 0 PNPLA7 375775 broad.mit.edu 37 9 140356425 140356425 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:140356425C>A ENST00000406427.1 - 32 4050 c.3714G>T c.(3712-3714)atG>atT p.M1238I PNPLA7_ENST00000277531.4_Missense_Mutation_p.M1213I|PNPLA7_ENST00000371457.1_Missense_Mutation_p.M819I|PNPLA7_ENST00000492278.1_5'UTR NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1213 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GGTCGCGGAGCATCTTCTCCA 0.706000 6 1 8.12818e-05 9.07474e-05 1 1 0 CTR9 9646 broad.mit.edu 37 11 10778370 10778370 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:10778370A>G ENST00000361367.2 + 5 1003 c.577A>G c.(577-579)Aac>Gac p.N193D NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 193 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) ATTGCGTACTAACCCAGGATG 0.338000 26 72 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969538 47969538 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:47969538C>A ENST00000236877.6 - 2 518 c.123G>T c.(121-123)ggG>ggT p.G41G SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 41 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCTGGCAGCCCCCTGTGCTGG 0.736000 15 4 0.000308642 0.000338731 1 1 0 LIME1 54923 broad.mit.edu 37 20 62369202 62369202 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:62369202A>T ENST00000309546.3 + 3 214 c.127A>T c.(127-129)Agg>Tgg p.R43W LIME1_ENST00000490824.1_3'UTR|ZGPAT_ENST00000490623.1_3'UTR NM_017806.2 NP_060276.2 Lck interacting transmembrane adaptor 1 kidney(1)|large_intestine(1)|liver(1) 3 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CCCCAGGAAGAGGGCGCGGAG 0.766000 4 2 0 0 1 0 0 RASA4CP 401331 broad.mit.edu 37 7 44073841 44073841 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:44073841C>A ENST00000446874.1 - 0 271 TGGTAGGAGCCCAGCAGTCCG 0.597000 12 14 0.00136819 0.00146269 1 1 0 CCSAP 126731 broad.mit.edu 37 1 229478113 229478113 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:229478113G>A ENST00000284617.2 - 2 224 c.100C>T c.(100-102)Cgc>Tgc p.R34C CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000452552.1_Missense_Mutation_p.R34C|CCSAP_ENST00000366687.1_Missense_Mutation_p.R34C NM_145257.3 NP_660300.3 centriole, cilia and spindle-associated protein CGGCCTAGGCGGTAGTGCAGC 0.716000 3 3 0 0 1 0 0 CYP3A5 1577 broad.mit.edu 37 7 99258147 99258147 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:99258147T>C ENST00000343703.5 - 11 1357 c.971A>G c.(970-972)gAg>gGg p.E324G CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.E334G cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) TGCATCAATCTCCTTTTGCAG 0.478000 10 63 0 0 1 0 0 ZNF202 7753 broad.mit.edu 37 11 123600464 123600464 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:123600464A>C ENST00000336139.4 - 4 834 c.472T>G c.(472-474)Tca>Gca p.S158A ZNF202_ENST00000529691.1_Missense_Mutation_p.S158A|ZNF202_ENST00000530393.1_Missense_Mutation_p.S158A O95125 ZN202_HUMAN zinc finger protein 202 158 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) TCATTAGGTGACTCAGGCTCC 0.572000 8 25 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3738615 3738615 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:3738615G>A ENST00000541714.2 + 12 1809 c.1347G>A c.(1345-1347)ctG>ctA p.L449L TJP3_ENST00000589378.1_Silent_p.L458L|TJP3_ENST00000539908.2_Silent_p.L413L|TJP3_ENST00000587686.1_Silent_p.L468L|TJP3_ENST00000262968.9_Silent_p.L482L|TJP3_ENST00000382008.3_Silent_p.L463L NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 463 PDZ 3. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) TGCTGGGGCTGCCACCAGGCG 0.597000 51 16 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188228128 188228128 + Missense_Mutation SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:188228128T>G ENST00000409998.1 - 10 1383 c.602A>C c.(601-603)aAc>aCc p.N201T AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.N201T|CALCRL_ENST00000392370.3_Missense_Mutation_p.N201T Q16602 CALRL_HUMAN calcitonin receptor-like 201 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TAAGGCCTGGTTGTTGGCCAC 0.423000 16 67 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29972708 29972708 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:29972708G>T ENST00000378993.1 + 10 1944 c.1271G>T c.(1270-1272)gGg>gTg p.G424V IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G424V NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 424 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 CAAGAGACTGGGGAAGAAGAA 0.363000 18 4 1.00905e-13 1.40661e-13 1 1 0 PEAR1 375033 broad.mit.edu 37 1 156880456 156880456 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:156880456C>A ENST00000338302.3 + 16 2097 c.1872C>A c.(1870-1872)tgC>tgA p.C624* PEAR1_ENST00000292357.7_Nonsense_Mutation_p.C624* Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 624 EGF-like 8. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTGCAAGTGCGCTAACCACT 0.622000 27 27 1.1804e-14 1.67693e-14 1 1 0 CHST8 64377 broad.mit.edu 37 19 34263062 34263062 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:34263062G>T ENST00000262622.3 + 4 1127 c.369G>T c.(367-369)gcG>gcT p.A123A CHST8_ENST00000438847.2_Silent_p.A123A|CHST8_ENST00000434302.1_Silent_p.A123A NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 123 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) CAGCTGCGGCGACCATCCCGG 0.711000 17 22 1.02788e-11 1.37731e-11 1 1 0 ACTN2 88 broad.mit.edu 37 1 236924324 236924324 + Nonsense_Mutation SNP G G T rs145450474 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:236924324G>T ENST00000366578.4 + 20 2543 c.2377G>T c.(2377-2379)Gaa>Taa p.E793* ACTN2_ENST00000546208.1_Nonsense_Mutation_p.E287*|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.E793* NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 793 EF-hand 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GGGTGAAGCCGAATTTGCCCG 0.512000 20 48 4.96729e-08 6.11042e-08 1 1 0 ACSF3 197322 broad.mit.edu 37 16 89169021 89169021 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:89169021C>T ENST00000317447.4 + 4 1053 c.676C>T c.(676-678)Ctg>Ttg p.L226L ACSF3_ENST00000406948.3_Silent_p.L226L|ACSF3_ENST00000378345.4_5'UTR NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 226 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) GGTGACCGGGCTGGTCCACAA 0.622000 46 12 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162279914 162279914 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:162279914C>T ENST00000389554.3 + 6 1542 c.1225C>T c.(1225-1227)Ccc>Tcc p.P409S TBR1_ENST00000489530.1_3'UTR|AC009487.4_ENST00000437683.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.P122S NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CCGCCTGACCCCCTCGCCCAA 0.682000 16 30 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8807962 8807962 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:8807962C>A ENST00000324436.3 - 1 1210 c.1090G>T c.(1090-1092)Gcc>Tcc p.A364S NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 364 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 TGGGTCTCGGCTGGCAGAGCG 0.677000 38 6 3.21399e-22 5.15766e-22 1 1 0 XIRP1 165904 broad.mit.edu 37 3 39227605 39227605 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:39227605G>T ENST00000340369.3 - 2 3560 c.3332C>A c.(3331-3333)cCc>cAc p.P1111H XIRP1_ENST00000396251.1_Missense_Mutation_p.P1111H|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1111 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGGGATCCGGGGATCACTTCC 0.612000 44 18 2.84425e-11 3.78046e-11 1 1 0 ZNF12 7559 broad.mit.edu 37 7 6731966 6731966 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:6731966C>T ENST00000405858.1 - 5 1148 c.607G>A c.(607-609)Gaa>Aaa p.E203K AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.E129K|ZNF12_ENST00000342651.5_Missense_Mutation_p.E165K NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 203 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) AGACTTTCTTCATTTAGAGTA 0.338000 47 32 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554760 140554760 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140554760G>T ENST00000231137.3 + 1 2518 c.2344G>T c.(2344-2346)Gaa>Taa p.E782* NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 782 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGGGAAGTGGAAGAAAATCG 0.448000 31 120 6.04164e-23 9.77983e-23 1 1 0 U2AF1L4 199746 broad.mit.edu 37 19 36234925 36234925 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:36234925T>C ENST00000412391.2 - 6 483 c.470A>G c.(469-471)cAg>cGg p.Q157R AD000671.6_ENST00000589807.1_Intron|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.Q118R|U2AF1L4_ENST00000292879.5_Intron Q8WU68 U2AF4_HUMAN U2 small nuclear RNA auxiliary factor 1-like 4 157 mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CATCTCATACTGGCGACAGCA 0.572000 58 53 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39551619 39551619 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:39551619C>T ENST00000251645.2 - 5 806 c.754G>A c.(754-756)Gag>Aag p.E252K NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 252 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) TTCAGCTCCTCGGTCTGAAAC 0.622000 48 66 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165547659 165547659 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:165547659C>T ENST00000264381.3 - 2 1329 c.1163G>A c.(1162-1164)gGa>gAa p.G388E BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 388 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CTCACTCACTCCTGGAAAAAA 0.383000 23 40 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112968605 112968605 + Translation_Start_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:112968605C>A ENST00000495514.1 + 0 660 BOC_ENST00000355385.3_De_novo_Start_OutOfFrame|BOC_ENST00000484034.1_De_novo_Start_OutOfFrame|BOC_ENST00000273395.4_De_novo_Start_OutOfFrame|BOC_ENST00000485230.1_De_novo_Start_OutOfFrame Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) TTTGTGTGACCCTGGCGGCTT 0.567000 9 23 1.12685e-05 1.29006e-05 1 1 0 TMEM260 54916 broad.mit.edu 37 14 57070541 57070541 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:57070541G>C ENST00000261556.6 + 4 475 c.353G>C c.(352-354)gGc>gCc p.G118A TMEM260_ENST00000536419.1_Intron|TMEM260_ENST00000538838.1_Missense_Mutation_p.G118A NM_017799.3 NP_060269.3 transmembrane protein 260 AGGCTTTCTGGCTCATCTGCT 0.398000 45 48 0 0 1 0 0 NOTUM 147111 broad.mit.edu 37 17 79916234 79916234 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:79916234C>T ENST00000409678.3 - 5 952 c.569G>A c.(568-570)gGg>gAg p.G190E NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 190 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGATGAAGCCCCGCTCCAAAC 0.642000 7 28 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72297276 72297276 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:72297276G>T ENST00000579490.1 + 7 1262 c.1127G>T c.(1126-1128)gGg>gTg p.G376V DNAI2_ENST00000311014.6_Missense_Mutation_p.G319V|DNAI2_ENST00000307504.5_Missense_Mutation_p.G176V|DNAI2_ENST00000446837.2_Missense_Mutation_p.G319V|DNAI2_ENST00000582036.1_Missense_Mutation_p.G319V Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 319 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AATGCCTTGGGGGCCATCTCC 0.537000 Kartagener syndrome 123 105 8.39346e-61 1.58685e-60 1 1 0 ADH7 131 broad.mit.edu 37 4 100349273 100349273 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:100349273G>T ENST00000437033.2 - 4 821 c.318C>A c.(316-318)aaC>aaA p.N106K ADH7_ENST00000209665.4_Missense_Mutation_p.N118K|ADH7_ENST00000476959.1_Missense_Mutation_p.N126K|ADH7_ENST00000482593.1_Missense_Mutation_p.N49K P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 118 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TGCCATCTGGGTTGCGACAAG 0.343000 34 36 1.22384e-17 1.82409e-17 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129634131 129634131 + Nonsense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:129634131C>G ENST00000421865.2 + 23 3349 c.3300C>G c.(3298-3300)taC>taG p.Y1100* NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1100 Laminin EGF-like 12. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACTGGAACTACCCTCGCTGCA 0.468000 18 42 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204957970 204957970 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:204957970C>A ENST00000367171.4 + 24 3407 c.3079C>A c.(3079-3081)Ccc>Acc p.P1027T NFASC_ENST00000367172.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000495396.1_Intron O94856 NFASC_HUMAN neurofascin 1042 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGTAAAAGGTCCCAGCTAATT 0.592000 8 22 0.000274275 0.000301459 1 1 0 FKBP15 23307 broad.mit.edu 37 9 115946630 115946630 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:115946630C>A ENST00000238256.3 - 17 1775 c.1658G>T c.(1657-1659)aGc>aTc p.S553I NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 553 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 AACTGACATGCTAGGAATAAG 0.388000 3 12 1 1 1 1 0 COL9A1 1297 broad.mit.edu 37 6 70948955 70948955 + Splice_Site SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:70948955A>T ENST00000357250.6 - 33 2271 c.e33+1 COL9A1_ENST00000370499.4_Splice_Site|COL9A1_ENST00000320755.7_Splice_Site|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_Splice_Site NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CACCATACTTACAGATCCCTT 0.259000 18 37 0 0 1 0 0 FECH 2235 broad.mit.edu 37 18 55240533 55240533 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:55240533C>G ENST00000262093.5 - 3 410 c.259G>C c.(259-261)Gac>Cac p.D87H FECH_ENST00000382873.3_Missense_Mutation_p.D93H|FECH_ENST00000585699.1_5'UTR NM_000140.3|NM_001012515.2 NP_000131.2|NP_001012533.1 P22830 HEMH_HUMAN ferrochelatase 87 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 15 Colorectal(73;0.227) AGAAGGAAGTCGTGAACATCT 0.383000 11 37 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081140 152081140 + Missense_Mutation SNP A A C rs71585886 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:152081140A>C ENST00000368804.1 - 2 4552 c.4553T>G c.(4552-4554)cTc>cGc p.L1518R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1518 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTCCTCGAGGAATTTTCT 0.587000 27 171 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39775464 39775464 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr21:39775464C>T ENST00000442448.1 - 6 848 c.577G>A c.(577-579)Gac>Aac p.D193N ERG_ENST00000398910.1_Missense_Mutation_p.D193N|ERG_ENST00000417133.2_Missense_Mutation_p.D193N|ERG_ENST00000398897.1_Missense_Mutation_p.D94N|ERG_ENST00000453032.2_Missense_Mutation_p.D94N|ERG_ENST00000398907.1_Missense_Mutation_p.D186N|ERG_ENST00000398919.2_Missense_Mutation_p.D193N|ERG_ENST00000429727.2_Intron|ERG_ENST00000288319.7_Missense_Mutation_p.D186N|ERG_ENST00000398911.1_Missense_Mutation_p.D193N|ERG_ENST00000398905.1_Missense_Mutation_p.D186N NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 193 PNT. cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) AGAAGGATGTCGGCGTTGTAG 0.512000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 15 82 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43619125 43619125 + Silent SNP C C G rs146662047 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:43619125C>G ENST00000360835.3 - 11 1431 c.1305G>C c.(1303-1305)ccG>ccC p.P435P NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 435 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GTGTGTGAGCCGGGCAGGAAA 0.647000 5 60 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72960041 72960041 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:72960041G>T ENST00000264839.7 + 13 2250 c.2250G>T c.(2248-2250)ttG>ttT p.L750F RIMS1_ENST00000522291.1_Missense_Mutation_p.L750F|RIMS1_ENST00000521978.1_Missense_Mutation_p.L750F|RIMS1_ENST00000348717.5_Missense_Mutation_p.L750F|RIMS1_ENST00000517827.1_Missense_Mutation_p.L209F|RIMS1_ENST00000518273.1_Missense_Mutation_p.L750F|RIMS1_ENST00000523963.1_Missense_Mutation_p.L224F|RIMS1_ENST00000491071.2_Missense_Mutation_p.L750F|RIMS1_ENST00000520567.1_Missense_Mutation_p.L750F|RIMS1_ENST00000401910.3_Missense_Mutation_p.L224F|RIMS1_ENST00000517960.1_Missense_Mutation_p.L750F|RIMS1_ENST00000425662.2_Missense_Mutation_p.L143F Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 750 C2 1. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGGTGAAGTTGTGGTATGATA 0.348000 11 16 3.86212e-05 4.35441e-05 1 1 0 PKD1L1 168507 broad.mit.edu 37 7 47917145 47917145 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:47917145G>C ENST00000289672.2 - 22 3655 c.3605C>G c.(3604-3606)cCc>cGc p.P1202R NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1202 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ACCATGGTGGGGCTGCACCTG 0.547000 40 67 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99642361 99642361 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:99642361G>T ENST00000345514.2 - 3 865 c.599C>A c.(598-600)cCg>cAg p.P200Q BCL11B_ENST00000443726.2_Missense_Mutation_p.P77Q|BCL11B_ENST00000357195.3_Missense_Mutation_p.P271Q NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 271 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CACGGCCTCCGGCCCGAGCGG 0.721000 T TLX3 T-ALL 5 10 0.014758 0.0152718 1 1 0 ZNF536 9745 broad.mit.edu 37 19 31039535 31039535 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:31039535C>T ENST00000355537.3 + 4 3156 c.3009C>T c.(3007-3009)tgC>tgT p.C1003C NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1003 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGCACGGCTGCTTGTTTTGTG 0.572000 59 66 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126746583 126746583 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:126746583C>A ENST00000339582.2 - 3 1502 c.694G>T c.(694-696)Gtg>Ttg p.V232L GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.V232L|GRM8_ENST00000358373.3_Missense_Mutation_p.V232L|GRM8_ENST00000444921.2_Missense_Mutation_p.V232L O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 232 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AAGGCCTCCACACCGCTCTCA 0.493000 HNSCC(24;0.065) 26 30 8.24728e-16 1.19566e-15 1 1 0 RAB11FIP2 22841 broad.mit.edu 37 10 119799784 119799784 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:119799784G>A ENST00000355624.3 - 2 1085 c.646C>T c.(646-648)Ctc>Ttc p.L216F RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.L216F|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 216 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) GGACCCAAGAGAAAAGGCTTT 0.438000 118 36 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299885 125299885 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:125299885C>T ENST00000538699.1 - 2 103 c.23G>A c.(22-24)aGc>aAc p.S8N DCAF12L2_ENST00000360028.2_Missense_Mutation_p.S8N NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 8 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CCGTTTCCTGCTACCTGTTTG 0.761000 7 5 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47253067 47253067 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:47253067C>A ENST00000396220.1 - 32 4123 c.4101G>T c.(4099-4101)tgG>tgT p.W1367C PREX1_ENST00000371941.3_Missense_Mutation_p.W1367C Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1367 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 breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCTGCTCCAGCCACTTGCGGC 0.697000 17 4 1.15088e-07 1.39837e-07 1 1 0 SH3GL3 6457 broad.mit.edu 37 15 84237417 84237417 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:84237417C>A ENST00000324537.5 + 7 840 c.348C>A c.(346-348)tcC>tcA p.S116S SH3GL3_ENST00000434347.1_Silent_p.S116S|SH3GL3_ENST00000427482.2_Silent_p.S108S|SH3GL3_ENST00000535412.1_Silent_p.S108S Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 108 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 GGGAAGACTCCACCTTTGGTG 0.512000 35 19 2.68265e-12 3.64521e-12 1 1 0 TECPR1 25851 broad.mit.edu 37 7 97854379 97854379 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:97854379G>T ENST00000447648.2 - 18 2848 c.2549C>A c.(2548-2550)gCc>gAc p.A850D TECPR1_ENST00000379795.3_Missense_Mutation_p.A852D|TECPR1_ENST00000479975.1_5'UTR Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 850 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGCCCCGAGGCATCGCTCCA 0.682000 3 3 1.23904e-05 1.41306e-05 1 1 0 TTN 7273 broad.mit.edu 37 2 179454313 179454313 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:179454313A>T ENST00000589042.1 - 304 62363 c.62139T>A c.(62137-62139)gaT>gaA p.D20713E TTN_ENST00000359218.5_Missense_Mutation_p.D11773E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D11840E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D18145E|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D19072E|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D11648E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19072 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCCCAGTCATCGGAGCCCT 0.418000 16 152 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43890087 43890087 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:43890087C>T ENST00000562955.1 + 16 2455 c.2455C>T c.(2455-2457)Ctc>Ttc p.L819F SZT2_ENST00000372442.1_5'UTR NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 819 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TGCCCAGCTCCTCTCCATCCT 0.587000 21 49 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123785833 123785833 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:123785833G>T ENST00000422452.2 - 8 1573 c.1510C>A c.(1510-1512)Cct>Act p.P504T TENM1_ENST00000371130.3_Missense_Mutation_p.P504T NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AGATACCAAGGTCCTTGATCC 0.433000 37 70 3.76114e-14 5.28765e-14 1 1 0 CNTFR 1271 broad.mit.edu 37 9 34557932 34557932 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:34557932C>A ENST00000378980.3 - 5 663 c.370G>T c.(370-372)Ggc>Tgc p.G124C CNTFR_ENST00000351266.4_Missense_Mutation_p.G124C NM_001207011.1|NM_147164.2 NP_001193940.1|NP_671693.1 P26992 CNTFR_HUMAN ciliary neurotrophic factor receptor 124 Fibronectin type-III 1. nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1) 15 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) CAGTAGAAGCCCTTGGGGTAA 0.627000 28 16 7.38237e-10 9.52274e-10 1 1 0 SLCO2A1 6578 broad.mit.edu 37 3 133654686 133654686 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:133654686C>A ENST00000310926.4 - 13 2019 c.1746G>T c.(1744-1746)cgG>cgT p.R582R SLCO2A1_ENST00000493729.1_Silent_p.R506R NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 582 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 GCGAGTTCCACCGGATGCAGG 0.602000 6 11 3.59834e-05 4.06317e-05 1 1 0 NID1 4811 broad.mit.edu 37 1 236145047 236145047 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:236145047G>T ENST00000264187.6 - 16 3173 c.3091C>A c.(3091-3093)Ctt>Att p.L1031I NID1_ENST00000366595.3_Missense_Mutation_p.L898I NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 1031 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TTGCGGCCAAGGTGATCAACA 0.478000 15 47 0.000422831 0.000463027 1 1 0 CCDC87 55231 broad.mit.edu 37 11 66359147 66359147 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:66359147C>A ENST00000333861.3 - 1 1407 c.1340G>T c.(1339-1341)cGg>cTg p.R447L NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 447 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 ATCAGAGACCCGTACGGCAGC 0.527000 32 64 3.99451e-17 5.91219e-17 1 1 0 SYP 6855 broad.mit.edu 37 X 49050734 49050734 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:49050734G>T ENST00000263233.4 - 4 384 c.312C>A c.(310-312)gcC>gcA p.A104A SYP_ENST00000538567.1_5'UTR|SYP_ENST00000479808.1_Silent_p.A104A NM_003179.2 NP_003170.1 P08247 SYPH_HUMAN synaptophysin 104 MARVEL. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1) 15 all_lung(315;0.00016) CAAAGAATTCGGCTGACGAGG 0.547000 25 5 1.85244e-09 2.36896e-09 1 1 0 TMEM26 219623 broad.mit.edu 37 10 63170201 63170201 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:63170201C>A ENST00000399298.3 - 6 1354 c.986G>T c.(985-987)cGg>cTg p.R329L TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 329 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) GGTCTGTGCCCGGCAACCATG 0.597000 19 47 7.07596e-05 7.92977e-05 1 1 0 NID2 22795 broad.mit.edu 37 14 52478301 52478301 + Missense_Mutation SNP C C T rs142002042 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:52478301C>T ENST00000216286.5 - 17 3520 c.3521G>A c.(3520-3522)gGa>gAa p.G1174E NID2_ENST00000541773.1_Missense_Mutation_p.G1073E NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1174 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) AGGCTCTGCTCCCAGTTCCAG 0.507000 49 88 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54914579 54914579 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:54914579C>A ENST00000545554.1 + 30 6161 c.6161C>A c.(6160-6162)gCc>gAc p.A2054D UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.A2054D|UNC13C_ENST00000537900.1_Missense_Mutation_p.A2052D Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2054 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GACATCACTGCCACCCCAGGA 0.443000 54 10 1.17673e-23 1.92367e-23 1 1 0 ACOX1 51 broad.mit.edu 37 17 73945404 73945404 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:73945404T>C ENST00000537812.1 - 12 2156 c.1508A>G c.(1507-1509)gAa>gGa p.E503G ACOX1_ENST00000293217.5_Missense_Mutation_p.E541G|ACOX1_ENST00000301608.4_Missense_Mutation_p.E541G NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 541 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 GAGGAGTTTTTCTGAAAAGAG 0.378000 23 154 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153069054 153069054 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:153069054G>C ENST00000164640.4 - 8 2255 c.2064C>G c.(2062-2064)gcC>gcG p.A688A PDZD4_ENST00000393758.2_Silent_p.A613A|PDZD4_ENST00000544474.1_Silent_p.A579A NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 688 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTGCTCACGGGCCCGGATCA 0.642000 49 9 0 0 1 0 0 LRRC28 123355 broad.mit.edu 37 15 99901705 99901705 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:99901705G>T ENST00000301981.3 + 8 1100 c.860G>T c.(859-861)aGc>aTc p.S287I LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.S218I|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.S287I|LRRC28_ENST00000442993.2_3'UTR NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 287 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) ACCTACCACAGCTTGCTGAAA 0.468000 OREG0023509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 50 3.39706e-21 5.37596e-21 1 1 0 PHIP 55023 broad.mit.edu 37 6 79726270 79726270 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:79726270C>A ENST00000275034.4 - 13 1393 c.1226G>T c.(1225-1227)cGt>cTt p.R409L NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 409 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CCCTGCTGGACGAGTAGCCAT 0.358000 27 77 1.77063e-15 2.55452e-15 1 1 0 SLC26A10 65012 broad.mit.edu 37 12 58014207 58014207 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:58014207G>T ENST00000379218.2 + 1 515 c.204G>T c.(202-204)ttG>ttT p.L68F SLC26A10_ENST00000320442.4_Missense_Mutation_p.L68F Q8NG04 S2610_HUMAN solute carrier family 26, member 10 68 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) TCTACAGCTTGCTAGGTACTG 0.532000 66 278 9.61844e-40 1.74731e-39 1 1 0 HRNR 388697 broad.mit.edu 37 1 152190877 152190877 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:152190877A>T ENST00000368801.2 - 3 3303 c.3228T>A c.(3226-3228)caT>caA p.H1076Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1076 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGTTGCCCATGGGTAGAGG 0.562000 249 390 0 0 1 0 0 HOXA4 3201 broad.mit.edu 37 7 27168919 27168919 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:27168919T>C ENST00000360046.5 - 2 953 c.888A>G c.(886-888)aaA>aaG p.K296K HOXA4_ENST00000428284.2_Silent_p.K296K|HOXA3_ENST00000467897.2_5'UTR|HOXA-AS2_ENST00000521159.1_RNA NM_002141.4 NP_002132.3 Q00056 HXA4_HUMAN homeobox A4 296 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6) 12 GAGTTTGTGCTTTCCCTGGTG 0.557000 51 57 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150698450 150698450 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:150698450C>A ENST00000297494.3 + 11 1722 c.1365C>A c.(1363-1365)agC>agA p.S455R NOS3_ENST00000467517.1_Missense_Mutation_p.S455R|NOS3_ENST00000461406.1_Missense_Mutation_p.S249R|NOS3_ENST00000484524.1_Missense_Mutation_p.S455R NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 455 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TCTCGGGCAGCCTCACTCCTG 0.637000 45 69 4.67007e-22 7.48621e-22 1 1 0 SERPINA5 5104 broad.mit.edu 37 14 95058418 95058418 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:95058418G>A ENST00000329597.7 + 6 1273 c.1063G>A c.(1063-1065)Gtg>Atg p.V355M SERPINA5_ENST00000554866.1_Missense_Mutation_p.V355M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.V355M|SERPINA3_ENST00000553947.1_5'UTR|SERPINA5_ENST00000553780.1_Missense_Mutation_p.V355M NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 355 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TGTGGTGGAGGTGGACGAGTC 0.577000 95 305 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227968759 227968759 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:227968759C>A ENST00000396625.3 - 13 952 c.745G>T c.(745-747)Ggt>Tgt p.G249C COL4A4_ENST00000329662.7_Missense_Mutation_p.G249C NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 249 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTTGCTGACCAACCTCACCC 0.383000 10 24 2.17888e-05 2.4735e-05 1 1 0 MTFMT 123263 broad.mit.edu 37 15 65316079 65316079 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:65316079G>A ENST00000220058.4 - 3 486 c.473C>T c.(472-474)cCt>cTt p.P158L MTFMT_ENST00000561025.1_Intron NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 158 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) ATGGATTACAGGGGCTGGGCC 0.418000 22 11 0 0 1 0 0 NTSR2 23620 broad.mit.edu 37 2 11798750 11798750 + Missense_Mutation SNP G G A rs145400490 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:11798750G>A ENST00000306928.5 - 4 1122 c.1088C>T c.(1087-1089)tCc>tTc p.S363F NM_012344.3 NP_036476.1 O95665 NTR2_HUMAN neurotensin receptor 2 363 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) TCTGAAGGAGGAGGACACGGC 0.537000 16 47 0 0 1 0 0 TEX26 122046 broad.mit.edu 37 13 31531029 31531029 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:31531029T>C ENST00000380473.3 + 4 345 c.332T>C c.(331-333)cTa>cCa p.L111P NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 111 CTGTGGACACTACCTCACTGT 0.398000 21 33 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156346551 156346551 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:156346551G>T ENST00000274532.2 - 9 1110 c.1052_splice c.e9-1 p.L352_splice TIMD4_ENST00000406964.1_Splice_Site_p.L54_splice|TIMD4_ENST00000407087.3_Splice_Site_p.L324_splice NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 352 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGTAGTCTAGCCTGTAAACA 0.413000 21 12 8.10497e-08 9.94549e-08 1 1 0 ANKS6 203286 broad.mit.edu 37 9 101536273 101536273 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:101536273C>A ENST00000353234.4 - 9 1754 c.1707G>T c.(1705-1707)ctG>ctT p.L569L ANKS6_ENST00000375018.1_Silent_p.L569L|ANKS6_ENST00000540940.1_Silent_p.L374L|ANKS6_ENST00000375019.2_Silent_p.L268L Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 569 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) CAGAGCTCCACAGCTCAAAAC 0.622000 8 26 0.00448238 0.00471729 1 1 0 SRCIN1 80725 broad.mit.edu 37 17 36709070 36709070 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:36709070C>A ENST00000264659.7 - 12 2447 c.2223G>T c.(2221-2223)gaG>gaT p.E741D SRCIN1_ENST00000578925.1_Missense_Mutation_p.E775D|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 613 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 TCTGGATCTTCTCCACCGATT 0.607000 21 42 7.45023e-12 1.00372e-11 1 1 0 MROH2B 133558 broad.mit.edu 37 5 41048527 41048527 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:41048527G>T ENST00000399564.4 - 16 2033 c.1583C>A c.(1582-1584)gCt>gAt p.A528D MROH2B_ENST00000506092.2_Missense_Mutation_p.A83D NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TATTGCACCAGCCCCACGTAA 0.453000 11 33 5.16669e-11 6.82462e-11 1 1 0 COL12A1 1303 broad.mit.edu 37 6 75884986 75884986 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:75884986C>A ENST00000322507.8 - 13 2787 c.2478G>T c.(2476-2478)acG>acT p.T826T COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T826T|COL12A1_ENST00000416123.2_Silent_p.T826T NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 826 Fibronectin type-III 5. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TAGTAGACGTCGTAGGGTCAG 0.393000 25 46 2.21704e-12 3.02249e-12 1 1 0 RGL1 23179 broad.mit.edu 37 1 183711407 183711407 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:183711407G>C ENST00000304685.3 + 2 576 c.115G>C c.(115-117)Gtt>Ctt p.V39L RGL1_ENST00000367531.1_Missense_Mutation_p.V39L|RGL1_ENST00000536277.1_Missense_Mutation_p.V39L NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 0 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 AATATGGGAAGTTTTAAAGAC 0.428000 39 71 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60777080 60777080 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:60777080G>T ENST00000313421.7 + 5 1004 c.818G>T c.(817-819)cGc>cTc p.R273L CD6_ENST00000344028.5_Missense_Mutation_p.R273L|CD6_ENST00000352009.5_Missense_Mutation_p.R273L|CD6_ENST00000452451.2_Missense_Mutation_p.R273L|CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Missense_Mutation_p.R273L NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 273 SRCR 3. cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 GGCGCTGACCGCTGCGAGGGG 0.632000 11 23 0.000673444 0.000728339 1 1 0 FZD9 8326 broad.mit.edu 37 7 72849512 72849512 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:72849512G>T ENST00000344575.3 + 1 1404 c.1175G>T c.(1174-1176)aGc>aTc p.S392I NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 392 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) TACGTGGCCAGCACGGATGCA 0.652000 23 8 6.32553e-13 8.71153e-13 1 1 0 OR2T12 127064 broad.mit.edu 37 1 248458410 248458410 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:248458410C>A ENST00000317996.1 - 1 470 c.471G>T c.(469-471)caG>caT p.Q157H NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TAGCAACAGCCTGCAGGAGGC 0.592000 15 69 0.000422831 0.000463027 1 1 0 UNC5B 219699 broad.mit.edu 37 10 73058922 73058922 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:73058922T>A ENST00000335350.6 + 17 3142 c.2726T>A c.(2725-2727)cTc>cAc p.L909H UNC5B_ENST00000373192.4_Missense_Mutation_p.L898H NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 909 Death. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 ATCCTGGACCTCTGGGAAGCT 0.607000 83 94 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079088 57079088 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:57079088G>A ENST00000316981.3 - 5 1696 c.1217C>T c.(1216-1218)tCc>tTc p.S406F PLAG1_ENST00000429357.2_Missense_Mutation_p.S406F|PLAG1_ENST00000423799.2_Missense_Mutation_p.S324F NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 406 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GTCACTGATGGAGATAGAGCT 0.453000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 46 58 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60786757 60786757 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:60786757C>G ENST00000313421.7 + 13 2160 c.1974C>G c.(1972-1974)gaC>gaG p.D658E CD6_ENST00000344028.5_Missense_Mutation_p.D626E|CD6_ENST00000352009.5_Missense_Mutation_p.D591E|CD6_ENST00000452451.2_Missense_Mutation_p.D582E|CD6_ENST00000346437.4_Missense_Mutation_p.D585E NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 658 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 ACTCCACCGACAACGATGACT 0.647000 4 19 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108536371 108536371 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:108536371C>T ENST00000263054.6 - 4 813 c.806G>A c.(805-807)cGg>cAg p.R269Q SORCS1_ENST00000344440.6_Missense_Mutation_p.R269Q NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 269 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GAAGTTCAGCCGGTACTTTTG 0.418000 39 29 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160969553 160969553 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:160969553C>A ENST00000447678.1 - 32 5232 c.5112G>T c.(5110-5112)ccG>ccT p.P1704P LPA_ENST00000316300.5_Silent_p.P1704P NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4212 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GGATGACAGTCGGAGGAGCGA 0.527000 16 36 0.000308642 0.000338731 1 1 0 MORC1 27136 broad.mit.edu 37 3 108836850 108836850 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:108836850G>C ENST00000232603.5 - 1 139 c.57C>G c.(55-57)caC>caG p.H19Q MORC1_ENST00000483760.1_Missense_Mutation_p.H19Q NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 19 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ACGAGTTGGCGTGGATGAAAT 0.627000 2 2 0 0 1 0 0 SVOP 55530 broad.mit.edu 37 12 109306399 109306399 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:109306399G>T ENST00000299134.5 - 14 1362 c.1363C>A c.(1363-1365)Cca>Aca p.P455T NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 CCGGTGGCTGGACTCCTGCAG 0.612000 42 88 1.62263e-30 2.83007e-30 1 1 0 INF2 64423 broad.mit.edu 37 14 105176007 105176007 + Silent SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:105176007C>G ENST00000392634.4 + 12 2215 c.2103C>G c.(2101-2103)gcC>gcG p.A701A INF2_ENST00000330634.7_Silent_p.A701A NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 701 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) TGGCCAGCGCCGACCACTTCT 0.652000 18 153 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55566772 55566772 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:55566772C>T ENST00000373965.2 - 36 5016 c.4622G>A c.(4621-4623)aGt>aAt p.S1541N PCDH15_ENST00000414778.1_Missense_Mutation_p.S1538N NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.S1538N(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTTGATATTACTGTGGATACT 0.453000 HNSCC(58;0.16) 29 44 0 0 1 0 0 ZRSR1 7310 broad.mit.edu 37 5 112227939 112227939 + Silent SNP T T C rs712666 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:112227939T>C ENST00000391338.1 + 1 627 c.603T>C c.(601-603)tcT>tcC p.S201S REEP5_ENST00000379638.4_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000474542.2_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000513339.1_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 p.S201S(1) breast(1)|skin(1)|stomach(2) 4 TCCCAACATCTAGTCCTACCC 0.453000 8 146 0 0 1 0 0 PTPN12 5782 broad.mit.edu 37 7 77256328 77256328 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:77256328A>G ENST00000248594.6 + 13 1604 c.1332A>G c.(1330-1332)caA>caG p.Q444Q PTPN12_ENST00000415482.2_Silent_p.Q325Q|PTPN12_ENST00000435495.2_Silent_p.Q314Q NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 444 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 TCCCTCTCCAAGAGGGACCAA 0.338000 46 7 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67860646 67860646 + Silent SNP T T A rs148445363 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:67860646T>A ENST00000255674.6 - 8 1171 c.885A>T c.(883-885)gcA>gcT p.A295A RTTN_ENST00000454359.1_Silent_p.A295A|RTTN_ENST00000437017.1_Silent_p.A295A NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 295 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GAGTACCTCTTGCTTCATGAC 0.463000 25 14 0 0 1 0 0 CSTF1 1477 broad.mit.edu 37 20 54972379 54972379 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:54972379G>T ENST00000217109.4 + 3 638 c.286G>T c.(286-288)Gct>Tct p.A96S CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 96 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) GTCCCCAGAGGCTTCTGAGTA 0.473000 70 70 1.26778e-28 2.17794e-28 1 1 0 IMPDH1 3614 broad.mit.edu 37 7 128035026 128035026 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:128035026G>C ENST00000338791.6 - 14 1817 c.1467C>G c.(1465-1467)gaC>gaG p.D489E IMPDH1_ENST00000470772.1_Missense_Mutation_p.D403E|IMPDH1_ENST00000354269.5_Missense_Mutation_p.D479E|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D453E|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D456E|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D379E|IMPDH1_ENST00000480861.1_Missense_Mutation_p.D399E|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D420E|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D379E NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 404 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) GCCGCACCCCGTCTGAGAAGA 0.607000 41 53 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751129 19751129 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:19751129T>C ENST00000400113.3 - 4 1098 c.994A>G c.(994-996)Atc>Gtc p.I332V NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 332 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) ATGGTGGCGATGGCCGCGTTG 0.532000 50 11 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19209525 19209525 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:19209525C>T ENST00000263200.10 - 16 2582 c.2510G>A c.(2509-2511)aGa>aAa p.R837K CLTCL1_ENST00000353891.5_Missense_Mutation_p.R837K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R837K NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 837 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GAACTGTCCTCTCACTGCCAT 0.463000 T ? ALCL 12 110 0 0 1 0 0 RBM45 129831 broad.mit.edu 37 2 178988949 178988949 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:178988949G>T ENST00000286070.5 + 8 1256 c.1164G>T c.(1162-1164)gtG>gtT p.V388V NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 390 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) AAACTCCTGTGAAAGAAAGAC 0.338000 34 68 1.22384e-17 1.82409e-17 1 1 0 SLC39A12 221074 broad.mit.edu 37 10 18280159 18280159 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:18280159G>A ENST00000377369.2 + 8 1622 c.1349G>A c.(1348-1350)gGa>gAa p.G450E SLC39A12_ENST00000377374.4_Missense_Mutation_p.G450E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G450E|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G316E NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 450 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AAACTGATGGGATTAATTGGA 0.333000 40 41 0 0 1 0 0 FAM71F1 84691 broad.mit.edu 37 7 128370108 128370108 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:128370108C>A ENST00000315184.5 + 6 1059 c.1006C>A c.(1006-1008)Ctg>Atg p.L336M FAM71F1_ENST00000485070.1_Missense_Mutation_p.L235M NM_032599.2 NP_115988.1 Q96KD3 F71F1_HUMAN family with sequence similarity 71, member F1 336 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 CGGGCCACAGCTGGCCCCACC 0.632000 59 76 7.10676e-39 1.28788e-38 1 1 0 GOLGA3 2802 broad.mit.edu 37 12 133384676 133384676 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:133384676C>T ENST00000204726.3 - 5 1537 c.979G>A c.(979-981)Ggg>Agg p.G327R GOLGA3_ENST00000450791.2_Missense_Mutation_p.G327R|GOLGA3_ENST00000545875.1_Missense_Mutation_p.G327R|GOLGA3_ENST00000456883.2_Missense_Mutation_p.G327R|GOLGA3_ENST00000537452.1_Missense_Mutation_p.G327R NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 327 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CCATAGGTCCCTCGGGTGGAG 0.602000 39 43 0 0 1 0 0 PPTC7 160760 broad.mit.edu 37 12 110989774 110989774 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:110989774C>A ENST00000354300.3 - 2 512 c.e2-1 NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 TCTGCAACCCCTGAAGAAAAA 0.393000 32 38 1.74807e-11 2.3339e-11 1 1 0 RREB1 6239 broad.mit.edu 37 6 7229492 7229492 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:7229492A>G ENST00000379938.2 + 10 1697 c.1160A>G c.(1159-1161)gAc>gGc p.D387G RREB1_ENST00000349384.6_Missense_Mutation_p.D387G|RREB1_ENST00000379933.3_Missense_Mutation_p.D387G|RREB1_ENST00000334984.6_Missense_Mutation_p.D387G NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 387 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CTGCCGGATGACAACCAGGCA 0.627000 57 6 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250527 140250527 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140250527G>T ENST00000398640.2 + 1 1839 c.1839G>T c.(1837-1839)gcG>gcT p.A613A PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGCCGGCGGCGGGCGGCT 0.682000 73 12 2.49587e-40 4.54517e-40 1 1 0 ROCK1 6093 broad.mit.edu 37 18 18547804 18547804 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:18547804T>A ENST00000399799.1 - 26 4041 c.3101A>T c.(3100-3102)aAt>aTt p.N1034I NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 1034 actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CAGCTTTCGATTTTCCTTTTC 0.343000 13 180 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7283315 7283315 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:7283315C>A ENST00000436587.2 + 4 1272 c.1049C>A c.(1048-1050)gCa>gAa p.A350E C1GALT1_ENST00000223122.2_Missense_Mutation_p.A350E NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 350 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) ATTAGTCAAGCAAACAAAAAT 0.323000 55 196 1.17673e-23 1.92367e-23 1 1 0 CHRND 1144 broad.mit.edu 37 2 233398943 233398943 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:233398943C>A ENST00000258385.3 + 11 1294 c.1262C>A c.(1261-1263)cCa>cAa p.P421Q CHRND_ENST00000543200.1_Missense_Mutation_p.P406Q|CHRND_ENST00000457943.2_Missense_Mutation_p.P227Q NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 421 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.P421Q(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GGCCGGCCCCCAGCAAGCTCT 0.597000 14 24 7.93312e-07 9.41583e-07 1 1 0 BACH2 60468 broad.mit.edu 37 6 90660405 90660405 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:90660405G>A ENST00000257749.4 - 7 2127 c.1420C>T c.(1420-1422)Ctc>Ttc p.L474F BACH2_ENST00000537989.1_Missense_Mutation_p.L474F|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.L474F NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 474 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GAGCTGGGGAGGGACTGGCCG 0.617000 12 27 0 0 1 0 0 GAS2L1 10634 broad.mit.edu 37 22 29708168 29708168 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:29708168A>T ENST00000406549.3 + 6 1197 c.1047A>T c.(1045-1047)aaA>aaT p.K349N GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 366 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 TGGGTGGCAAATGTGGCCAAC 0.667000 31 40 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17202621 17202621 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:17202621G>A ENST00000261381.6 - 12 2895 c.2811C>T c.(2809-2811)gcC>gcT p.A937A NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 937 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGGAGCTCCAGGCCGTCTGGC 0.662000 6 19 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65340055 65340055 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:65340055G>C ENST00000284037.5 + 17 1908 c.1519G>C c.(1519-1521)Gat>Cat p.D507H ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D507H|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D507H|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.D507H|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D507H|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D507H|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D507H|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D507H|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D507H NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 507 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TAGATTAAAAGATGAAGAGAC 0.333000 27 45 0 0 1 0 0 ANAPC5 51433 broad.mit.edu 37 12 121766213 121766213 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:121766213C>G ENST00000261819.3 - 10 1331 c.1210G>C c.(1210-1212)Gac>Cac p.D404H ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D391H|ANAPC5_ENST00000535482.1_Missense_Mutation_p.D70H|ANAPC5_ENST00000441917.2_Missense_Mutation_p.D292H|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D292H NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 404 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGGTCGGAGTCCTTTAGGGCA 0.542000 27 26 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121219331 121219331 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:121219331G>C ENST00000297848.3 + 10 1459 c.1189G>C c.(1189-1191)Gag>Cag p.E397Q COL14A1_ENST00000247781.3_Missense_Mutation_p.E302Q|COL14A1_ENST00000309791.4_Missense_Mutation_p.E397Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.E397Q NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 397 Fibronectin type-III 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AAAACCAGACGAGGTAATAAG 0.378000 8 27 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27493467 27493467 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:27493467C>A ENST00000396271.3 - 12 1593 c.1467G>T c.(1465-1467)tgG>tgT p.W489C ACBD5_ENST00000375901.1_Missense_Mutation_p.W380C|ACBD5_ENST00000375905.4_Missense_Mutation_p.W454C|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.W498C|ACBD5_ENST00000375897.3_Missense_Mutation_p.W312C NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 498 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CGAAGGGCCACCAAGATGGTC 0.368000 10 30 1.58986e-06 1.8632e-06 1 1 0 FLAD1 80308 broad.mit.edu 37 1 154962937 154962937 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:154962937G>A ENST00000292180.3 + 5 1809 c.1487G>A c.(1486-1488)tGt>tAt p.C496Y FLAD1_ENST00000368432.1_Missense_Mutation_p.C399Y|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000315144.10_Missense_Mutation_p.C399Y|FLAD1_ENST00000368428.1_Missense_Mutation_p.C37Y|FLAD1_ENST00000405236.2_Intron NM_025207.4 NP_079483.3 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 496 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCCTACTCCTGTAGCCTCTGC 0.622000 11 65 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45825049 45825049 + Missense_Mutation SNP G G T rs144022462 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr21:45825049G>T ENST00000397928.1 + 17 3008 c.2563G>T c.(2563-2565)Ggg>Tgg p.G855W TRPM2_ENST00000397932.2_Missense_Mutation_p.G855W|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.G835W|TRPM2_ENST00000300482.5_Missense_Mutation_p.G855W NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 855 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TGACGAGTGCGGGCTGATGAA 0.537000 109 18 1.00528e-58 1.89816e-58 1 1 0 ARHGAP28 79822 broad.mit.edu 37 18 6851037 6851037 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:6851037G>T ENST00000419673.2 + 3 288 c.71G>T c.(70-72)cGt>cTt p.R24L ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R24L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R24L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R6L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R24L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R183L|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R183L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R131L NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 0 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) CGTTAGCCTCGTGATACCTGT 0.403000 26 16 3.01185e-09 3.82204e-09 1 1 0 RHAG 6005 broad.mit.edu 37 6 49582519 49582519 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:49582519C>A ENST00000371175.4 - 5 714 c.688G>T c.(688-690)Gct>Tct p.A230S RHAG_ENST00000229810.7_Missense_Mutation_p.A230S NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 230 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) CCAGGTTCAGCAATGGCCGAG 0.498000 44 42 3.54909e-21 5.61058e-21 1 1 0 SLN 6588 broad.mit.edu 37 11 107578643 107578643 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:107578643G>T ENST00000531293.1 - 3 366 c.14C>A c.(13-15)aCc>aAc p.T5N SLN_ENST00000305991.2_Missense_Mutation_p.T5N|SLN_ENST00000525934.1_Missense_Mutation_p.T5N O00631 SARCO_HUMAN sarcolipin 5 calcium ion transport|regulation of calcium ion transport integral to membrane|sarcoplasmic reticulum membrane enzyme regulator activity large_intestine(1)|lung(1) 2 Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219) CAGCTCCCGGGTGTTTATCCC 0.493000 42 29 2.58029e-29 4.44815e-29 1 1 0 ITGA9 3680 broad.mit.edu 37 3 37544799 37544799 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:37544799G>T ENST00000264741.5 + 6 998 c.e6+1 ITGA9_ENST00000422441.1_Splice_Site NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) ACCTACCTGGGTGAGTACTCA 0.443000 15 14 1.49906e-05 1.70828e-05 1 1 0 FAT4 79633 broad.mit.edu 37 4 126371800 126371800 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:126371800G>T ENST00000394329.3 + 9 9642 c.9629G>T c.(9628-9630)gGa>gTa p.G3210V FAT4_ENST00000335110.5_Missense_Mutation_p.G1508V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3210 Cadherin 31. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCCCCAAGTGGAACAACAGTT 0.408000 45 46 1.36018e-38 2.4619e-38 1 1 0 DNAH17 8632 broad.mit.edu 37 17 76501442 76501442 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:76501442C>T ENST00000389840.5 - 31 5001 c.4877G>A c.(4876-4878)gGc>gAc p.G1626D DNAH17_ENST00000585328.1_Missense_Mutation_p.G1627D dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CATTCCCAGGCCCACCTTGAG 0.562000 16 43 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80046105 80046105 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:80046105T>A ENST00000306749.2 - 17 2890 c.2672A>T c.(2671-2673)tAc>tTc p.Y891F NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 891 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TATGCTCAGGTAGCCAGTGGC 0.662000 19 57 0 0 1 0 0 PLTP 5360 broad.mit.edu 37 20 44536370 44536370 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:44536370C>A ENST00000542937.1 - 6 1168 c.634G>T c.(634-636)Ggg>Tgg p.G212W PLTP_ENST00000354050.4_Missense_Mutation_p.G140W|PLTP_ENST00000477313.1_Missense_Mutation_p.G192W|PLTP_ENST00000420868.2_Missense_Mutation_p.G97W|PLTP_ENST00000372420.1_Missense_Mutation_p.G104W|PLTP_ENST00000372431.3_Missense_Mutation_p.G192W P55058 PLTP_HUMAN phospholipid transfer protein 192 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) AGGACCGTCCCTGCGTGGTAG 0.642000 9 10 1.08611e-07 1.324e-07 1 1 0 CACNA1A 773 broad.mit.edu 37 19 13445269 13445269 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:13445269C>A ENST00000360228.5 - 8 1120 c.1121G>T c.(1120-1122)cGg>cTg p.R374L CACNA1A_ENST00000573710.2_Missense_Mutation_p.R374L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 374 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CAGAAAAGCCCGCCGGTTCTC 0.502000 52 9 6.81593e-30 1.18185e-29 1 1 0 CYP4F8 11283 broad.mit.edu 37 19 15739116 15739116 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:15739116G>T ENST00000441682.2 + 0 1181 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CCTTAGGGACGACCTGGCCCA 0.607000 50 46 3.37225e-12 4.5764e-12 1 1 0 PHKA1 5255 broad.mit.edu 37 X 71864287 71864287 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:71864287C>T ENST00000373545.3 - 14 1822 c.1384G>A c.(1384-1386)Gtg>Atg p.V462M PHKA1_ENST00000541944.1_Missense_Mutation_p.V462M|PHKA1_ENST00000373539.3_Missense_Mutation_p.V462M|PHKA1_ENST00000373542.4_Missense_Mutation_p.V462M|PHKA1_ENST00000339490.3_Missense_Mutation_p.V462M P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 462 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) ATGGTCTCCACGTAAATTCCC 0.428000 8 3 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67675815 67675815 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:67675815A>C ENST00000545606.1 + 2 631 c.194A>C c.(193-195)cAg>cCg p.Q65P NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 65 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GGAGAGGTACAGAATTTAGCT 0.343000 55 53 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64367342 64367342 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:64367342C>A ENST00000377574.1 + 7 2012 c.1265C>A c.(1264-1266)gCc>gAc p.A422D SLC22A12_ENST00000377572.1_Missense_Mutation_p.A314D|SLC22A12_ENST00000336464.7_Missense_Mutation_p.A388D|SLC22A12_ENST00000377567.2_Missense_Mutation_p.A314D|SLC22A12_ENST00000473690.1_Missense_Mutation_p.A201D NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 422 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 TGCATTCTGGCCAACACGCTG 0.677000 11 14 1.58986e-06 1.8632e-06 1 1 0 KIAA0947 23379 broad.mit.edu 37 5 5464213 5464213 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:5464213G>T ENST00000296564.7 + 13 4988 c.4766G>T c.(4765-4767)gGg>gTg p.G1589V NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1589 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 TCATTTTCAGGGGAAAAAGCT 0.388000 25 38 9.57634e-11 1.25933e-10 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76523735 76523735 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:76523735G>T ENST00000307431.8 + 14 2417 c.2032G>T c.(2032-2034)Gag>Tag p.E678* CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.E682*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.E606*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.E630* NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 679 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CTGTGAACAGGAGTTTACTTA 0.443000 10 4 7.48243e-07 8.93083e-07 1 1 0 CCDC80 151887 broad.mit.edu 37 3 112324500 112324500 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:112324500C>T ENST00000206423.3 - 8 3570 c.2617G>A c.(2617-2619)Gga>Aga p.G873R CCDC80_ENST00000439685.2_Missense_Mutation_p.G873R NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 873 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 TTGACATTTCCGTCTTTTCCG 0.448000 23 31 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28725699 28725699 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:28725699G>T ENST00000257197.3 - 7 1075 c.814C>A c.(814-816)Cct>Act p.P272T RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P272T NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 272 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AGAGTGTCAGGTTCGTCAAGG 0.383000 5 63 0.184627 0.18613 1 1 0 GJA4 2701 broad.mit.edu 37 1 35260505 35260505 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:35260505C>A ENST00000342280.4 + 2 779 c.691C>A c.(691-693)Ctg>Atg p.L231M NM_002060.2 NP_002051.2 P35212 CXA4_HUMAN gap junction protein, alpha 4, 37kDa 231 cell-cell junction assembly integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GTTGGTGCACCTGCTGTGTCG 0.602000 22 30 3.8784e-16 5.65585e-16 1 1 0 IQCB1 9657 broad.mit.edu 37 3 121544910 121544910 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:121544910G>T ENST00000310864.6 - 5 595 c.381C>A c.(379-381)atC>atA p.I127I IQCB1_ENST00000349820.6_Silent_p.I127I NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 127 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) TAGCTGCATTGATAAAACATG 0.328000 6 22 0.00116845 0.00125275 1 1 0 USP34 9736 broad.mit.edu 37 2 61542063 61542063 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:61542063G>A ENST00000398571.2 - 24 3405 c.3329C>T c.(3328-3330)tCt>tTt p.S1110F NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1110 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GACATCACCAGATTGTGCTCT 0.348000 42 65 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154889952 154889952 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:154889952C>A ENST00000460393.1 + 21 2147 c.2027C>A c.(2026-2028)cCt>cAt p.P676H MME_ENST00000360490.2_Missense_Mutation_p.P676H|MME_ENST00000462745.1_Missense_Mutation_p.P676H|MME_ENST00000492661.1_Missense_Mutation_p.P676H|MME_ENST00000493237.1_Missense_Mutation_p.P676H|MME-AS1_ENST00000484721.1_RNA NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 676 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AAATTACTTCCTGGACTTGAC 0.279000 40 54 2.45108e-15 3.51235e-15 1 1 0 LSG1 55341 broad.mit.edu 37 3 194386359 194386359 + Nonsense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:194386359G>A ENST00000265245.5 - 5 762 c.448C>T c.(448-450)Cag>Tag p.Q150* NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 150 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) ATCAGCTTCTGTTCCTCTTCT 0.323000 6 38 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17436879 17436879 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:17436879G>C ENST00000302539.4 - 18 2391 c.2266C>G c.(2266-2268)Cgg>Ggg p.R756G ABCC8_ENST00000389817.3_Missense_Mutation_p.R755G NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 755 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GCTGTCTCCCGCTCTGGGCTG 0.597000 4 3 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59224554 59224554 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:59224554G>T ENST00000300127.2 + 1 144 c.121G>T c.(121-123)Gga>Tga p.G41* NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 AACAGTCCTGGGAAATGCACT 0.448000 33 52 4.15321e-07 5.00947e-07 1 1 0 USP6NL 9712 broad.mit.edu 37 10 11505065 11505065 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:11505065C>A ENST00000379237.1 - 15 2256 c.1862G>T c.(1861-1863)gGg>gTg p.G621V USP6NL_ENST00000277575.5_Missense_Mutation_p.G638V NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 621 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TCGGGCTTCCCCATCTAGCTG 0.512000 21 28 2.37509e-13 3.30158e-13 1 1 0 KCNG4 93107 broad.mit.edu 37 16 84270968 84270968 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:84270968G>A ENST00000568181.1 - 2 244 c.124C>T c.(124-126)Cgg>Tgg p.R42W KCNG4_ENST00000308251.4_Missense_Mutation_p.R42W Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 42 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 CGCACCCTCCGGTAGTAAAGG 0.632000 41 10 0 0 1 0 0 TTYH3 80727 broad.mit.edu 37 7 2698074 2698074 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:2698074G>T ENST00000258796.7 + 12 1610 c.1405G>T c.(1405-1407)Gcc>Tcc p.A469S TTYH3_ENST00000403167.1_Missense_Mutation_p.A298S|TTYH3_ENST00000407643.1_Missense_Mutation_p.A437S NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 469 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CGTCAGCAACGCCCCGGTCAC 0.667000 12 34 9.31168e-06 1.06851e-05 1 1 0 RNASE9 390443 broad.mit.edu 37 14 21025165 21025165 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:21025165G>C ENST00000557068.1 - 4 1789 c.64C>G c.(64-66)Cag>Gag p.Q22E RNASE9_ENST00000556208.1_Missense_Mutation_p.Q27E|RNASE9_ENST00000555230.1_Missense_Mutation_p.Q22E|RNASE9_ENST00000557209.1_Missense_Mutation_p.Q27E|RNASE9_ENST00000553706.1_Missense_Mutation_p.Q27E|RNASE9_ENST00000553541.1_Missense_Mutation_p.Q22E|RNASE9_ENST00000338904.3_Missense_Mutation_p.Q22E|RNASE9_ENST00000429244.2_Missense_Mutation_p.Q22E|RNASE9_ENST00000404716.3_Missense_Mutation_p.Q27E|RNASE9_ENST00000554964.1_Missense_Mutation_p.Q22E P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 22 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) TGCACCAGCTGCAGCAGCTGC 0.418000 39 22 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20807011 20807011 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:20807011C>A ENST00000359062.3 + 15 3096 c.3056C>A c.(3055-3057)gCa>gAa p.A1019E PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1019 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TATGATTCAGCAGGACTAATG 0.502000 36 12 1.36161e-19 2.1011e-19 1 1 0 PODN 127435 broad.mit.edu 37 1 53535629 53535629 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:53535629C>A ENST00000371500.3 + 4 530 c.189C>A c.(187-189)ggC>ggA p.G63G PODN_ENST00000312553.5_Silent_p.G82G|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.G82G NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 34 LRRNT. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GCCGAAGTGGCGGCCACAGCC 0.692000 5 3 0.00116845 0.00125275 1 1 0 ZNF521 25925 broad.mit.edu 37 18 22806812 22806812 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:22806812G>A ENST00000361524.3 - 4 1218 c.1070C>T c.(1069-1071)aCg>aTg p.T357M ZNF521_ENST00000538137.2_Missense_Mutation_p.T357M|ZNF521_ENST00000584787.1_Missense_Mutation_p.T137M NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 357 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) ATCTGGAGTCGTACTGGACAC 0.572000 T PAX5 ALL 86 28 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107012560 107012560 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:107012560C>G ENST00000369701.3 + 23 3360 c.3133C>G c.(3133-3135)Ctc>Gtc p.L1045V NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1045 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGACCAGATCCTCATTGCCGT 0.527000 45 23 0 0 1 0 0 HP 3240 broad.mit.edu 37 16 72094555 72094555 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:72094555G>A ENST00000355906.5 + 7 1045 c.987G>A c.(985-987)ggG>ggA p.G329G HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Silent_p.G270G|HP_ENST00000570083.1_Silent_p.G270G|HP_ENST00000565574.1_Silent_p.G270G NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 329 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GCCCTGTAGGGGTGCAGCCCA 0.527000 70 10 0 0 1 0 0 GUK1 2987 broad.mit.edu 37 1 228335979 228335979 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:228335979G>T ENST00000366723.1 + 7 584 c.583G>T c.(583-585)Gcc>Tcc p.A195S GUK1_ENST00000366728.2_Intron|GUK1_ENST00000366726.1_Intron|GUK1_ENST00000366721.1_Intron|GUK1_ENST00000366730.1_Intron|GUK1_ENST00000366718.1_Intron|GUK1_ENST00000312726.4_Intron|GUK1_ENST00000391865.3_Intron|GUK1_ENST00000366716.1_Intron|GUK1_ENST00000470040.1_Intron|GUK1_ENST00000366722.1_Intron Q16774 KGUA_HUMAN guanylate kinase 1 0 nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity endometrium(2)|lung(5)|prostate(1)|soft_tissue(1) 9 Prostate(94;0.0405) AGTGAGGACAGCCGCAGGCCA 0.706000 3 8 0.115264 0.117317 1 1 0 PCDH10 57575 broad.mit.edu 37 4 134072611 134072611 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:134072611G>T ENST00000264360.4 + 1 2142 c.1316G>T c.(1315-1317)gGc>gTc p.G439V NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 439 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CGGGACCGGGGCGAGCCTGCG 0.587000 61 92 2.31391e-43 4.25027e-43 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1265811 1265811 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:1265811C>A ENST00000447027.1 + 31 7768 c.7710C>A c.(7708-7710)ccC>ccA p.P2570P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P2567P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2567 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CAGCCACACCCTCCTCCACTC 0.657000 31 69 1.47857e-17 2.20156e-17 1 1 0 PLAGL2 5326 broad.mit.edu 37 20 30785260 30785260 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:30785260C>A ENST00000246229.4 - 3 750 c.486G>T c.(484-486)ctG>ctT p.L162L NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 162 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CAAAGGTCTGCAGGCACACCT 0.612000 7 28 0.00198382 0.0021102 1 1 0 DNPH1 10591 broad.mit.edu 37 6 43197174 43197174 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:43197174C>A ENST00000393987.2 - 1 42 c.21G>T c.(19-21)ccG>ccT p.P7P DNPH1_ENST00000230431.6_Silent_p.P7P NM_199184.1 NP_954653.1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 CGCTGCGCCCCGGCACCATGG 0.776000 4 2 0.150653 0.152397 1 1 0 DHCR7 1717 broad.mit.edu 37 11 71146436 71146436 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:71146436C>A ENST00000355527.3 - 9 1689 c.1413G>T c.(1411-1413)ctG>ctT p.L471L DHCR7_ENST00000407721.2_Silent_p.L471L NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 471 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) AGATTCCAGGCAGCAGGCGGT 0.667000 Smith-Lemli-Opitz syndrome 13 69 7.93312e-07 9.41583e-07 1 1 0 KCNA10 3744 broad.mit.edu 37 1 111061111 111061111 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:111061111T>A ENST00000369771.2 - 1 686 c.299A>T c.(298-300)cAg>cTg p.Q100L NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 100 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GGTTCTGAGCTGGGTCTCAAA 0.517000 14 31 0 0 1 0 0 ETV3 2117 broad.mit.edu 37 1 157106102 157106102 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:157106102C>G ENST00000368192.4 - 2 107 c.43G>C c.(43-45)Gga>Cga p.G15R ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Missense_Mutation_p.G15R NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 15 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) TGCTCACCTCCACCTCCTTCT 0.468000 116 137 0 0 1 0 0 ZNF474 133923 broad.mit.edu 37 5 121488259 121488259 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:121488259G>A ENST00000296600.4 + 2 957 c.574G>A c.(574-576)Gag>Aag p.E192K CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 192 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) GCCAAAGGGTGAGGGTCCCAG 0.527000 33 51 0 0 1 0 0 C6orf58 352999 broad.mit.edu 37 6 127911457 127911457 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:127911457G>T ENST00000329722.7 + 5 912 c.900G>T c.(898-900)gtG>gtT p.V300V NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 300 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) TTGACAATGTGGATAAATCTA 0.308000 45 64 4.44401e-20 6.90052e-20 1 1 0 CNR1 1268 broad.mit.edu 37 6 88853845 88853845 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:88853845A>G ENST00000537554.1 - 2 4711 c.1149T>C c.(1147-1149)agT>agC p.S383S CNR1_ENST00000369501.2_Silent_p.S383S|CNR1_ENST00000535130.1_Silent_p.S383S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.S383S|CNR1_ENST00000468898.1_Silent_p.S350S|CNR1_ENST00000369499.2_Silent_p.S383S|CNR1_ENST00000549890.1_Silent_p.S383S|CNR1_ENST00000549716.1_Silent_p.S322S NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 383 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GGCAGAGCATACTGCAGAATG 0.502000 24 57 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24342862 24342862 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:24342862C>A ENST00000175238.6 + 10 1031 c.948C>A c.(946-948)acC>acA p.T316T RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Silent_p.T88T|ADAM7_ENST00000380789.1_Silent_p.T316T|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 316 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ATTATTCCACCAGTATCATTA 0.373000 30 37 2.65835e-16 3.89961e-16 1 1 0 KCND1 3750 broad.mit.edu 37 X 48825920 48825920 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:48825920G>T ENST00000218176.3 - 1 2056 c.759C>A c.(757-759)gcC>gcA p.A253A NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 253 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 AACGGCTGGGGGCGGCAAACA 0.582000 14 4 2.61681e-11 3.4844e-11 1 1 0 IL18R1 8809 broad.mit.edu 37 2 103010974 103010974 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:103010974G>T ENST00000409599.1 + 11 1513 c.1157G>T c.(1156-1158)cGa>cTa p.R386L IL18R1_ENST00000233957.1_Missense_Mutation_p.R386L Q13478 IL18R_HUMAN interleukin 18 receptor 1 386 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 AAAGAATGCCGACCTGAAAAT 0.358000 19 51 2.94398e-08 3.65172e-08 1 1 0 CPAMD8 27151 broad.mit.edu 37 19 17104275 17104275 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:17104275C>A ENST00000443236.1 - 12 1389 c.1358G>T c.(1357-1359)gGg>gTg p.G453V CPAMD8_ENST00000388925.4_Missense_Mutation_p.G406V NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 406 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GATTTCAAACCCCACTAGTCC 0.577000 22 4 8.04996e-18 1.20587e-17 1 1 0 SYT15 83849 broad.mit.edu 37 10 46967678 46967678 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:46967678C>T ENST00000374323.3 - 3 1145 c.558G>A c.(556-558)aaG>aaA p.K186K SYT15_ENST00000374325.3_Silent_p.K133K|SYT15_ENST00000503753.1_Silent_p.K133K|SYT15_ENST00000374321.4_Silent_p.K133K Q9BQS2 SYT15_HUMAN synaptotagmin XV 133 C2 1. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCTCCGGGAACTTGTACAGCT 0.622000 11 148 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149522430 149522430 + RNA SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:149522430G>C ENST00000378016.2 + 0 14060 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCACACAGCTGTGCCGACCTC 0.622000 32 64 0 0 1 0 0 ATHL1 80162 broad.mit.edu 37 11 293727 293727 + Splice_Site SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:293727G>C ENST00000409548.2 + 10 1729 c.1614_splice c.e10+1 p.W538_splice ATHL1_ENST00000409655.1_Splice_Site_p.W290_splice|ATHL1_ENST00000409479.1_Splice_Site_p.W565_splice NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 538 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CCATGACCTGGGTGAGCACCC 0.612000 16 66 0 0 1 0 0 HDAC1 3065 broad.mit.edu 37 1 32782332 32782332 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:32782332C>T ENST00000373548.3 + 3 313 c.229C>T c.(229-231)Cgc>Tgc p.R77C HDAC1_ENST00000373541.2_5'UTR NM_004964.2 NP_004955.2 Q13547 HDAC1_HUMAN histone deacetylase 1 77 Histone deacetylase. anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytosol|NuRD complex|Sin3 complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) TAAATTCTTGCGCTCCATCCG 0.498000 62 62 0 0 1 0 0 FBXO30 84085 broad.mit.edu 37 6 146125936 146125936 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:146125936A>G ENST00000237281.4 - 2 1772 c.1606T>C c.(1606-1608)Ttt>Ctt p.F536L NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 536 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) ACATTCTTAAAGTGGGAAGAA 0.418000 31 67 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872493 51872493 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:51872493C>T ENST00000371497.5 + 2 3383 c.2496C>T c.(2494-2496)tcC>tcT p.S832S TSHZ2_ENST00000603338.2_Silent_p.S829S|TSHZ2_ENST00000329613.6_Silent_p.S829S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 832 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGGATGTCTCCAGTGAAGTCT 0.537000 36 32 0 0 1 0 0 IFNA14 3448 broad.mit.edu 37 9 21239720 21239720 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:21239720T>A ENST00000380222.2 - 1 258 c.215A>T c.(214-216)cAg>cTg p.Q72L NM_002172.2 NP_002163.2 P01570 IFN14_HUMAN interferon, alpha 14 72 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7) 11 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TTGAGCTTTCTGGAACTGGTT 0.478000 75 55 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29933477 29933477 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:29933477G>T ENST00000431530.3 + 6 3072 c.3014G>T c.(3013-3015)cGg>cTg p.R1005L NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 995 Localization to the growing distal tip of microtubules. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GAGGCTGAGCGGCAGCTGGTG 0.627000 14 3 9.31168e-06 1.06851e-05 1 1 0 USP6NL 9712 broad.mit.edu 37 10 11567387 11567387 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:11567387T>A ENST00000379237.1 - 4 547 c.153A>T c.(151-153)ttA>ttT p.L51F USP6NL_ENST00000277575.5_Missense_Mutation_p.L68F NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 51 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TGACTTACTGTAAAAAGCCAA 0.323000 32 51 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1321356 1321356 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:1321356T>A ENST00000381567.3 - 4 398 c.399A>T c.(397-399)gcA>gcT p.A133A CRLF2_ENST00000381566.1_Silent_p.A133A|CRLF2_ENST00000467626.1_5'UTR NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 133 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TCACCGTCACTGCATCCTGAT 0.572000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 23 18 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166223866 166223866 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:166223866G>T ENST00000357398.3 + 19 3950 c.3660G>T c.(3658-3660)ctG>ctT p.L1220L SCN2A_ENST00000283256.6_Silent_p.L1220L|SCN2A_ENST00000375427.2_Silent_p.L1220L|SCN2A_ENST00000375437.2_Silent_p.L1220L Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1220 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TGATTCTGCTGAGCAGTGGGG 0.418000 39 41 1.57019e-19 2.41794e-19 1 1 0 TTI1 9675 broad.mit.edu 37 20 36640474 36640474 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:36640474C>A ENST00000373448.2 - 3 1983 c.1745G>T c.(1744-1746)gGa>gTa p.G582V TTI1_ENST00000449821.1_Missense_Mutation_p.G582V|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.G582V NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 582 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 CAGCTCCTCTCCCATTTCCTC 0.453000 87 73 7.7321e-48 1.43803e-47 1 1 0 LTB 4050 broad.mit.edu 37 6 31548608 31548608 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:31548608C>A ENST00000429299.2 - 4 620 c.613G>T c.(613-615)Gtg>Ttg p.V205L LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR NM_002341.1 NP_002332.1 Q06643 TNFC_HUMAN lymphotoxin beta (TNF superfamily, member 3) 205 cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 Infliximab(DB00065)|Simvastatin(DB00641) CCGAACCCCACGCTCGTGTAC 0.662000 35 4 3.03874e-20 4.73827e-20 1 1 0 BNIP1 662 broad.mit.edu 37 5 172581411 172581411 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:172581411G>T ENST00000231668.9 + 4 497 c.393G>T c.(391-393)atG>atT p.M131I BNIP1_ENST00000351486.5_Missense_Mutation_p.M88I|BNIP1_ENST00000352523.6_Missense_Mutation_p.M131I|BNIP1_ENST00000393770.4_Missense_Mutation_p.M88I NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 88 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AAAAGCAGATGCTCAGGTAGG 0.502000 11 4 0.000978159 0.00105559 1 1 0 KLK6 5653 broad.mit.edu 37 19 51470521 51470521 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:51470521G>T ENST00000376851.3 - 3 540 c.101C>A c.(100-102)cCc>cAc p.P34H KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000376853.4_Missense_Mutation_p.P34H|KLK6_ENST00000310157.2_Missense_Mutation_p.P34H|KLK6_ENST00000594641.1_Missense_Mutation_p.P34H|KLK6_ENST00000424910.2_Intron NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 34 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) AGCTTGGTAGGGGTGAGATGT 0.572000 53 15 8.72198e-27 1.47283e-26 1 1 0 IGFBP5 3488 broad.mit.edu 37 2 217543651 217543651 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:217543651G>T ENST00000233813.4 - 2 1238 c.489C>A c.(487-489)tcC>tcA p.S163S NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 163 negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGACAAACTTGGACTGGGTCA 0.582000 6 22 2.0095e-06 2.34573e-06 1 1 0 CLINT1 9685 broad.mit.edu 37 5 157216423 157216423 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:157216423C>A ENST00000523094.1 - 11 1684 c.1479G>T c.(1477-1479)atG>atT p.M493I CLINT1_ENST00000530742.1_Missense_Mutation_p.M493I|CLINT1_ENST00000523908.1_Missense_Mutation_p.M511I|CLINT1_ENST00000296951.5_Missense_Mutation_p.M493I|CLINT1_ENST00000411809.2_Missense_Mutation_p.M493I NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 493 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGAAGGCTGCATACCAGGTA 0.443000 91 24 2.01383e-38 3.64057e-38 1 1 0 ALOX12 239 broad.mit.edu 37 17 6902062 6902062 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:6902062C>A ENST00000251535.6 + 4 501 c.448C>A c.(448-450)Ctg>Atg p.L150M RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 150 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 AGGGTTACCCCTGACCATCGC 0.557000 13 3 0.0135373 0.0140674 1 1 0 AMMECR1L 83607 broad.mit.edu 37 2 128628475 128628475 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:128628475G>A ENST00000272647.5 - 5 806 c.546C>T c.(544-546)ccC>ccT p.P182P AMMECR1L_ENST00000393001.1_Silent_p.P182P NM_001199140.1 NP_001186069.1 Q6DCA0 AMERL_HUMAN AMMECR1-like 182 AMMECR1. central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 9 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) CTCGGGTCAGGGGGGGAAATC 0.542000 12 7 0 0 1 0 0 FAM73A 374986 broad.mit.edu 37 1 78325063 78325063 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:78325063G>C ENST00000370791.3 + 10 1212 c.1180G>C c.(1180-1182)Gct>Cct p.A394P FAM73A_ENST00000443751.2_Missense_Mutation_p.A356P NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 394 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) TATTCGACAGGCTTTTCAGGT 0.423000 8 57 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238275448 238275448 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:238275448G>C ENST00000295550.4 - 11 5834 c.5382C>G c.(5380-5382)gcC>gcG p.A1794A COL6A3_ENST00000472056.1_Silent_p.A1187A|COL6A3_ENST00000347401.3_Silent_p.A1593A|COL6A3_ENST00000353578.4_Silent_p.A1588A|COL6A3_ENST00000346358.4_Silent_p.A1594A|COL6A3_ENST00000409809.1_Silent_p.A1588A NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1794 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGAACGCTGTGGCGCTGTTGG 0.557000 23 63 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70751763 70751763 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:70751763G>T ENST00000358731.4 + 1 322 c.59G>T c.(58-60)aGg>aTg p.R20M BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 20 Interaction with ZBTB43. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GTAGGCGCCAGGGGCTCCACA 0.697000 10 16 4.68919e-08 5.78268e-08 1 1 0 PLEC 5339 broad.mit.edu 37 8 144993577 144993577 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:144993577G>C ENST00000322810.4 - 32 10992 c.10823C>G c.(10822-10824)aCg>aGg p.T3608R PLEC_ENST00000357649.2_Missense_Mutation_p.T3475R|PLEC_ENST00000356346.3_Missense_Mutation_p.T3457R|PLEC_ENST00000345136.3_Missense_Mutation_p.T3471R|PLEC_ENST00000354589.3_Missense_Mutation_p.T3471R|PLEC_ENST00000436759.2_Missense_Mutation_p.T3498R|PLEC_ENST00000398774.2_Missense_Mutation_p.T3439R|PLEC_ENST00000527096.1_Missense_Mutation_p.T3494R|PLEC_ENST00000354958.2_Missense_Mutation_p.T3449R NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3608 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GATGCCGCCCGTGGCGATCTG 0.677000 57 46 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424135 125424135 + Silent SNP G G A rs145519727 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:125424135G>A ENST00000373686.1 + 1 291 c.291G>A c.(289-291)ctG>ctA p.L97L Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 TTATCATCCTGGCCATCCGCT 0.483000 6 91 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32893954 32893954 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:32893954C>A ENST00000330048.5 - 0 1303 NR_003083.2 GATCTCCACACAGTCGGGAGT 0.587000 17 93 3.32936e-07 4.01903e-07 1 1 0 ITGB8 3696 broad.mit.edu 37 7 20438509 20438509 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:20438509G>T ENST00000222573.3 + 9 1857 c.1173G>T c.(1171-1173)caG>caT p.Q391H ITGB8_ENST00000537992.1_Missense_Mutation_p.Q256H NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 391 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 TGAAAGTTCAGGTGGAAAACC 0.418000 73 50 1.48481e-22 2.39309e-22 1 1 0 PNN 5411 broad.mit.edu 37 14 39650316 39650316 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:39650316C>T ENST00000216832.4 + 9 1470 c.1403C>T c.(1402-1404)cCc>cTc p.P468L PNN_ENST00000557680.1_Intron NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 468 Glu-rich. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) GAATCTGAGCCCCAACCTGAG 0.498000 88 46 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179590171 179590171 + Splice_Site SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:179590171T>C ENST00000444136.1 + 6 1167 c.915_splice c.e6-1 p.V306_splice TDRD5_ENST00000367614.1_Splice_Site_p.V306_splice|TDRD5_ENST00000294848.8_Splice_Site_p.V306_splice NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 306 Lotus/OST-HTH 3. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 ATTTGTTAGGTTGTATCTAAG 0.313000 33 59 0 0 1 0 0 ANKRD36B 57730 broad.mit.edu 37 2 98165888 98165888 + RNA SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:98165888T>A ENST00000443455.1 - 0 1581 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B TTACCTGTCCTAGATTTTTCT 0.358000 3 3 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49005780 49005780 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:49005780C>T ENST00000226432.4 + 7 1014 c.831C>T c.(829-831)taC>taT p.Y277Y CWH43_ENST00000513409.1_Silent_p.Y250Y NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 277 GPI anchor biosynthetic process integral to membrane p.Y277*(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GGCTCCTTTACCTGCACACAT 0.488000 16 62 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069689 9069689 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:9069689G>T ENST00000397910.4 - 3 17960 c.17757C>A c.(17755-17757)ccC>ccA p.P5919P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5921 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTCCACAGAGGGAGGGCTTT 0.498000 56 24 1.63038e-21 2.59394e-21 1 1 0 MYBPHL 343263 broad.mit.edu 37 1 109849517 109849517 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:109849517C>G ENST00000357155.1 - 1 146 c.97G>C c.(97-99)Gga>Cga p.G33R MYBPHL_ENST00000477962.1_5'UTR NM_001010985.2|NM_001265613.1 NP_001010985.2|NP_001252542.1 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 33 central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) GCCCCCTGTCCAGGTGAAGCC 0.672000 8 19 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676040 11676040 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:11676040C>A ENST00000423059.3 - 2 990 c.739G>T c.(739-741)Gag>Tag p.E247* NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 247 TSP type-1 2. integral to membrane p.E247K(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCCTCGGCCTCGCATGGACTG 0.632000 HNSCC(18;0.044) 67 37 5.08636e-23 8.25146e-23 1 1 0 SSFA2 6744 broad.mit.edu 37 2 182787005 182787005 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:182787005G>C ENST00000431877.2 + 16 3720 c.3541G>C c.(3541-3543)Gct>Cct p.A1181P SSFA2_ENST00000428267.2_Missense_Mutation_p.A1006P|SSFA2_ENST00000409001.1_Missense_Mutation_p.A1159P|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409136.1_Missense_Mutation_p.A690P|SSFA2_ENST00000320370.7_Missense_Mutation_p.A1181P NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 1181 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) AGTTGATGCAGCTGAAGGAGC 0.488000 22 76 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39472801 39472801 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:39472801C>G ENST00000518318.2 + 7 1194 c.1152C>G c.(1150-1152)atC>atG p.I384M POU6F2_ENST00000403058.1_Missense_Mutation_p.I384M|POU6F2_ENST00000559001.1_Missense_Mutation_p.I329M P78424 PO6F2_HUMAN POU class 6 homeobox 2 384 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GCCAGATCATCGCCACAGTCA 0.602000 27 41 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29627268 29627268 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:29627268T>C ENST00000376894.4 + 2 379 c.261T>C c.(259-261)gaT>gaC p.D87D MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Silent_p.D87D|MOG_ENST00000483013.1_Intron|MOG_ENST00000396701.2_Silent_p.D87D|MOG_ENST00000396704.3_Silent_p.D87D|MOG_ENST00000494692.1_Silent_p.D87D|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Silent_p.D87D|MOG_ENST00000376898.3_Silent_p.D87D|MOG_ENST00000376902.3_Silent_p.D87D|MOG_ENST00000533330.2_Silent_p.D87D|MOG_ENST00000376917.3_Silent_p.D87D|MOG_ENST00000416766.2_Silent_p.D87D Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 87 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane p.D87D(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 AGGACCAAGATGGAGACCAGG 0.547000 137 26 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768134 140768134 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140768134T>C ENST00000519479.1 + 1 683 c.683T>C c.(682-684)aTa>aCa p.I228T PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGCACAGATACACGTTCTA 0.488000 104 31 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84520162 84520162 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:84520162G>T ENST00000360700.4 + 6 1703 c.817G>T c.(817-819)Gga>Tga p.G273* ZNF711_ENST00000395402.1_Nonsense_Mutation_p.G251*|ZNF711_ENST00000373165.3_Nonsense_Mutation_p.G273*|ZNF711_ENST00000542798.1_Nonsense_Mutation_p.G69*|ZNF711_ENST00000276123.3_Nonsense_Mutation_p.G273* Q9Y462 ZN711_HUMAN zinc finger protein 711 273 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 GTACACCAGTGGACATTCAGT 0.388000 22 43 2.89027e-11 3.83819e-11 1 1 0 SAE1 10055 broad.mit.edu 37 19 47656282 47656282 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:47656282A>G ENST00000413379.3 + 4 614 c.512A>G c.(511-513)gAg>gGg p.E171G SAE1_ENST00000392776.3_Missense_Mutation_p.E171G|SAE1_ENST00000270225.7_Missense_Mutation_p.E171G|SAE1_ENST00000598840.1_Intron|SAE1_ENST00000540850.1_Intron NM_001145713.1 NP_001139185.1 Q9UBE0 SAE1_HUMAN SUMO1 activating enzyme subunit 1 171 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity endometrium(3)|large_intestine(5)|lung(4)|ovary(1) 13 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) AATCTAGGAGAGCATGAGTTT 0.333000 50 167 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50850583 50850583 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:50850583G>T ENST00000404971.1 - 7 2441 c.1102C>A c.(1102-1104)Ctg>Atg p.L368M NRXN1_ENST00000402717.3_Missense_Mutation_p.L335M|NRXN1_ENST00000401669.2_Missense_Mutation_p.L335M|NRXN1_ENST00000405472.3_Missense_Mutation_p.L335M|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.L335M|NRXN1_ENST00000406316.2_Missense_Mutation_p.L335M NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 335 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCATTTTTCAGGGCAAGATTG 0.433000 47 78 3.86236e-30 6.71283e-30 1 1 0 PDE2A 5138 broad.mit.edu 37 11 72290584 72290584 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:72290584G>A ENST00000334456.5 - 26 2495 c.2250C>T c.(2248-2250)tcC>tcT p.S750S PDE2A_ENST00000444035.2_Silent_p.S741S|PDE2A_ENST00000418754.2_Silent_p.S635S|PDE2A_ENST00000376450.3_Silent_p.S494S|PDE2A_ENST00000544570.1_Silent_p.S743S|PDE2A_ENST00000540345.1_Silent_p.S741S NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 750 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) tcaccTTCCGGGAGAAATGAT 0.622000 6 12 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150529143 150529143 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:150529143T>A ENST00000271643.4 + 10 1859 c.1623T>A c.(1621-1623)gcT>gcA p.A541A RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.A541A|ADAMTSL4_ENST00000369041.5_Silent_p.A541A|ADAMTSL4_ENST00000369039.5_Silent_p.A564A NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 541 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GGAACTGGGCTGTGGATCCCC 0.617000 72 131 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3242243 3242243 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:3242243C>T ENST00000217939.6 - 5 1637 c.1483G>A c.(1483-1485)Ggt>Agt p.G495S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 495 Ig-like C2-type 1. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGGCATGGACCCCCTTCCAGG 0.527000 40 16 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65928032 65928032 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:65928032C>T ENST00000321892.4 + 20 6595 c.6534C>T c.(6532-6534)atC>atT p.I2178I BPTF_ENST00000306378.6_Silent_p.I2052I|BPTF_ENST00000335221.5_Silent_p.I2178I|BPTF_ENST00000424123.3_Silent_p.I2039I Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2178 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TATAGGTAATCACAGGGCCTC 0.358000 12 74 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52002434 52002434 + Silent SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:52002434T>G ENST00000291707.3 - 4 1180 c.1125A>C c.(1123-1125)ggA>ggC p.G375G SIGLEC12_ENST00000598614.1_Silent_p.G257G NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 375 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CTGTGCCATCTCCTTGGAAGA 0.562000 42 11 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187629379 187629379 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:187629379T>A ENST00000441802.2 - 2 1812 c.1603A>T c.(1603-1605)Act>Tct p.T535S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 535 Cadherin 4. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATCCTCAGAGTATAAACCCGA 0.468000 HNSCC(5;0.00058) 34 63 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148932911 148932911 + RNA SNP G G A rs2531445 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:148932911G>A ENST00000539543.1 + 0 167 NR_027355.1 CCAAGACTCCGTCCTGCAAGG 0.612000 11 169 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140564195 140564195 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140564195T>C ENST00000361016.2 + 1 3216 c.2061T>C c.(2059-2061)acT>acC p.T687T NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 687 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.T687T(1) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCTCACTGTCTACCTGG 0.692000 82 28 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18691801 18691801 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:18691801A>C ENST00000251296.1 + 6 1008 c.625A>C c.(625-627)Agc>Cgc p.S209R NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 209 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCTACAGGACAGCAGGCCCTT 0.602000 31 30 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111785273 111785273 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:111785273C>T ENST00000452346.2 + 13 1593 c.1590C>T c.(1588-1590)ttC>ttT p.F530F TMPRSS7_ENST00000419127.1_Silent_p.F404F Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 530 LDL-receptor class A 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CCAGCTCCTTCAGGCAGCATG 0.507000 27 48 0 0 1 0 0 PAPL 390928 broad.mit.edu 37 19 39590885 39590885 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:39590885T>C ENST00000331256.5 + 5 798 c.524T>C c.(523-525)cTg>cCg p.L175P PAPL_ENST00000594229.1_Intron NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 175 extracellular region acid phosphatase activity|metal ion binding GCCTACAACCTGGATCAGGAC 0.582000 67 92 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88766516 88766516 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:88766516G>T ENST00000497649.2 + 6 802 c.424G>T c.(424-426)Gaa>Taa p.E142* MEPE_ENST00000540395.1_Nonsense_Mutation_p.E53*|MEPE_ENST00000424957.3_Nonsense_Mutation_p.E166*|MEPE_ENST00000395102.4_Nonsense_Mutation_p.E197*|MEPE_ENST00000560249.1_Nonsense_Mutation_p.E53*|MEPE_ENST00000361056.3_Nonsense_Mutation_p.E166*|MEPE_ENST00000508016.1_3'UTR Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 166 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) ACTCCTGGGGGAAGAAAACAA 0.403000 37 30 3.76114e-14 5.28765e-14 1 1 0 SIKE1 80143 broad.mit.edu 37 1 115319023 115319023 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:115319023C>A ENST00000369528.5 - 4 555 c.478G>T c.(478-480)Gtt>Ttt p.V160F SIKE1_ENST00000060969.5_Missense_Mutation_p.V156F|SIKE1_ENST00000506320.1_5'UTR NM_001102396.1|NM_025073.2 NP_001095866.1|NP_079349.2 Q9BRV8 SIKE1_HUMAN suppressor of IKBKE 1 156 cytosol protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 TCCACCTGAACTGCTTTCCTC 0.363000 21 49 3.7963e-18 5.72722e-18 1 1 0 PLXNA2 5362 broad.mit.edu 37 1 208270130 208270130 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:208270130C>A ENST00000367033.3 - 7 2587 c.1830G>T c.(1828-1830)caG>caT p.Q610H NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 610 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TGCAGATGACCTGGCTCCCGG 0.557000 14 40 1.52009e-12 2.07425e-12 1 1 0 PC 5091 broad.mit.edu 37 11 66638805 66638805 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:66638805C>A ENST00000393960.1 - 6 749 c.468G>T c.(466-468)cgG>cgT p.R156R PC_ENST00000393958.2_Silent_p.R156R|PC_ENST00000393955.2_Silent_p.R156R|PC_ENST00000355677.3_Silent_p.R156R|PC_ENST00000524491.1_Silent_p.R116R NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 156 ATP-grasp.|Biotin carboxylation. R -> Q (in PC deficiency). gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) TGGCGATGGCCCGGGCCTCCA 0.662000 36 61 9.17885e-22 1.46507e-21 1 1 0 TP53AIP1 63970 broad.mit.edu 37 11 128807680 128807680 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:128807680C>A ENST00000602346.1 - 2 243 c.34G>T c.(34-36)Gct>Tct p.A12S TP53AIP1_ENST00000531399.1_Missense_Mutation_p.A12S|TP53AIP1_ENST00000530777.1_Missense_Mutation_p.A12S|TP53AIP1_ENST00000458238.2_Missense_Mutation_p.A12S NM_001251964.1 NP_001238893.1 Q9HCN2 TPIP1_HUMAN tumor protein p53 regulated apoptosis inducing protein 1 12 apoptosis mitochondrion large_intestine(1)|lung(1)|skin(1) 3 GAAGCTTGAGCAGATCTGAAG 0.597000 6 51 0.0215528 0.022195 1 1 0 FCRL4 83417 broad.mit.edu 37 1 157556223 157556223 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:157556223G>T ENST00000271532.1 - 6 1005 c.870C>A c.(868-870)ctC>ctA p.L290L FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 290 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GGGTCTCCAGGAGCACCCCAG 0.622000 37 38 3.76114e-14 5.28765e-14 1 1 0 MED12 9968 broad.mit.edu 37 X 70356320 70356320 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:70356320C>T ENST00000333646.6 + 37 5414 c.5215C>T c.(5215-5217)Ctg>Ttg p.L1739L MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Silent_p.L1739L|MED12_ENST00000374102.1_Silent_p.L1739L NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1739 Interaction with CTNNB1 and GLI3.|Pro-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CGCCTATTACCTGGAGCCACT 0.632000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 14 3 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24593575 24593575 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:24593575G>A ENST00000264463.4 - 2 532 c.25C>T c.(25-27)Ctg>Ttg p.L9L RP11-116O11.1_ENST00000510391.1_RNA NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 9 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AATAGAAACAGTAGCAAAAAT 0.403000 HNSCC(23;0.051) 72 61 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283878 152283878 + Nonsense_Mutation SNP G G A rs76017272 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:152283878G>A ENST00000368799.1 - 3 3519 c.3484C>T c.(3484-3486)Cag>Tag p.Q1162* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1162 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGTGTCCTGACCCTCTTGG 0.607000 Ichthyosis 133 683 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885068 88885068 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:88885068C>A ENST00000319675.3 - 1 1228 c.1132G>T c.(1132-1134)Gca>Tca p.A378S NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 378 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AGCCCTGGTGCTCCTCGGAAG 0.567000 16 48 7.07596e-05 7.92977e-05 1 1 0 PIGQ 9091 broad.mit.edu 37 16 633311 633311 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:633311A>T ENST00000026218.5 + 10 2048 c.1960A>T c.(1960-1962)Agc>Tgc p.S654C PIGQ_ENST00000321878.5_3'UTR NM_148920.2 NP_683721.1 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 654 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) TGGCGAGCACAGCAACCCCAG 0.682000 21 55 0 0 1 0 0 WASL 8976 broad.mit.edu 37 7 123336783 123336783 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:123336783G>A ENST00000223023.4 - 6 811 c.479C>T c.(478-480)gCt>gTt p.A160V NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 160 actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATCAACTGTAGCCATGGGTAG 0.289000 26 25 0 0 1 0 0 TXNDC9 10190 broad.mit.edu 37 2 99936171 99936171 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:99936171A>G ENST00000264255.3 - 5 910 c.655T>C c.(655-657)Tat>Cat p.Y219H C2orf15_ENST00000465095.1_Intron NM_005783.3 NP_005774.2 O14530 TXND9_HUMAN thioredoxin domain containing 9 219 cell redox homeostasis protein binding lung(1) 1 TCTGAATCATATTTCTTTCCT 0.284000 22 33 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94776256 94776256 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:94776256A>G ENST00000341584.3 - 3 847 c.701T>C c.(700-702)aTg>aCg p.M234T NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 234 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CGACTGCAACATCATGGGCAC 0.542000 54 50 0 0 1 0 0 CNGA1 1259 broad.mit.edu 37 4 47938466 47938466 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:47938466G>T ENST00000402813.3 - 10 2394 c.2252C>A c.(2251-2253)gCg>gAg p.A751E CNGA1_ENST00000514170.1_Missense_Mutation_p.A682E|CNGA1_ENST00000544810.1_Missense_Mutation_p.A682E|CNGA1_ENST00000358519.4_Missense_Mutation_p.A682E|CNGA1_ENST00000420489.2_Missense_Mutation_p.A682E P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 682 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 CCCACTTTCCGCTCCAGGTCC 0.423000 22 40 1.10923e-09 1.42465e-09 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77776198 77776198 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:77776198C>A ENST00000521891.2 + 11 10696 c.10248C>A c.(10246-10248)gaC>gaA p.D3416E ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3390E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3367E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3371E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3367 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTGATGAAGACGCCGCAGTAA 0.418000 HNSCC(33;0.089) 9 14 0.00448238 0.00471729 1 1 0 SLAMF9 89886 broad.mit.edu 37 1 159921458 159921458 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:159921458G>A ENST00000368093.3 - 4 979 c.863C>T c.(862-864)cCt>cTt p.P288L SLAMF9_ENST00000368092.3_Missense_Mutation_p.P197L|SLAMF9_ENST00000466773.1_5'UTR NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 288 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGTCAGGCAGGGCTGGAGCC 0.522000 34 52 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35039561 35039561 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:35039561A>G ENST00000231420.6 - 3 430 c.230T>C c.(229-231)gTg>gCg p.V77A NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 77 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) TGCCGTCACCACAGGAGAAAG 0.473000 29 66 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775632 77775632 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:77775632G>T ENST00000521891.2 + 11 10130 c.9682G>T c.(9682-9684)Gtg>Ttg p.V3228L ZFHX4_ENST00000518282.1_Missense_Mutation_p.V3202L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V3179L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V3183L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3179 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCTCTTTCAGTGTTGGGCAA 0.428000 HNSCC(33;0.089) 57 79 6.60958e-23 1.06875e-22 1 1 0 MACF1 23499 broad.mit.edu 37 1 39788298 39788298 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:39788298A>G ENST00000564288.1 + 32 4825 c.4048A>G c.(4048-4050)Atg>Gtg p.M1350V MACF1_ENST00000317713.7_Missense_Mutation_p.M1355V|MACF1_ENST00000372915.3_Missense_Mutation_p.M1355V|MACF1_ENST00000539005.1_Missense_Mutation_p.M1355V|MACF1_ENST00000361689.2_Missense_Mutation_p.M1355V|MACF1_ENST00000567887.1_Missense_Mutation_p.M1387V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.M1355V Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1355 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATTGCAACTGATGACATACAA 0.428000 9 122 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577765 9577765 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:9577765G>T ENST00000301480.4 - 10 2071 c.1858C>A c.(1858-1860)Cga>Aga p.R620R NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 620 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GTGTGTCTTCGTAAATGTTTA 0.398000 130 25 3.78353e-64 7.18968e-64 1 1 0 LRIG3 121227 broad.mit.edu 37 12 59270256 59270256 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:59270256C>A ENST00000320743.3 - 16 2952 c.2666G>T c.(2665-2667)gGa>gTa p.G889V LRIG3_ENST00000379141.4_Missense_Mutation_p.G829V NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 889 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TAAGAAAAATCCAGCACCTGA 0.418000 T ROS1 NSCLC 11 30 1.58986e-06 1.8632e-06 1 1 0 LMBR1 64327 broad.mit.edu 37 7 156554848 156554848 + Nonsense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:156554848G>A ENST00000353442.4 - 8 900 c.664C>T c.(664-666)Cag>Tag p.Q222* LMBR1_ENST00000540390.1_Nonsense_Mutation_p.Q201*|LMBR1_ENST00000354505.4_Nonsense_Mutation_p.Q222*|LMBR1_ENST00000359422.4_Nonsense_Mutation_p.Q70* NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 222 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) ACTAGCAACTGACCCATCACT 0.348000 25 43 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 108023427 108023427 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:108023427A>T ENST00000370067.1 + 7 1975 c.1348A>T c.(1348-1350)Acg>Tcg p.T450S NTNG1_ENST00000370073.2_Missense_Mutation_p.T529S|NTNG1_ENST00000370074.4_Missense_Mutation_p.T428S|NTNG1_ENST00000370072.3_Missense_Mutation_p.T484S|NTNG1_ENST00000370065.1_Missense_Mutation_p.T484S|NTNG1_ENST00000370070.2_Missense_Mutation_p.T450S|NTNG1_ENST00000370066.1_Missense_Mutation_p.T470S|NTNG1_ENST00000370068.1_Missense_Mutation_p.T529S|NTNG1_ENST00000370061.3_Missense_Mutation_p.T495S|NTNG1_ENST00000542803.1_Missense_Mutation_p.T529S|NTNG1_ENST00000370071.2_Missense_Mutation_p.T470S Q9Y2I2 NTNG1_HUMAN netrin G1 529 Laminin EGF-like 3. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GCTGCTGACCACGCTGCTGGG 0.692000 2 2 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37014784 37014784 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:37014784G>T ENST00000282516.8 + 22 5059 c.e22-1 NIPBL_ENST00000448238.2_Splice_Site NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTTCATTCTAGATTGACCAGG 0.308000 32 64 4.3181e-19 6.60834e-19 1 1 0 MIR31HG 554202 broad.mit.edu 37 9 21455785 21455785 + RNA SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:21455785T>A ENST00000304425.3 - 0 600 NR_027054.1 GCATGGAACATGACCTTCCTG 0.532000 7 3 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43788391 43788391 + Nonstop_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:43788391T>A ENST00000372476.3 + 23 3494 c.3415T>A c.(3415-3417)Tga>Aga p.*1139R TIE1_ENST00000433781.2_Nonstop_Mutation_p.*784R NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 0 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGAGGAGGCCTGAGCTGCCAT 0.572000 12 21 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 132997196 132997196 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:132997196G>A ENST00000254624.5 + 16 1983 c.1758G>A c.(1756-1758)gaG>gaA p.E586E EFR3A_ENST00000334503.4_Silent_p.E586E|EFR3A_ENST00000519656.1_Silent_p.E550E NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 586 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTATCAATGAGGATAATTTGC 0.398000 68 39 0 0 1 0 0 MSH6 2956 broad.mit.edu 37 2 48026796 48026796 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:48026796G>T ENST00000234420.4 + 4 1826 c.1674G>T c.(1672-1674)gtG>gtT p.V558V MSH6_ENST00000538136.1_Silent_p.V256V|MSH6_ENST00000540021.1_Silent_p.V428V|FBXO11_ENST00000405808.1_Intron NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 558 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CATATGGTGTGTGCTTTGTTG 0.438000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 85 81 3.1371e-51 5.8712e-51 1 1 0 DNAJC1 64215 broad.mit.edu 37 10 22208761 22208761 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:22208761C>A ENST00000376980.3 - 5 925 c.635_splice c.e5+1 p.R212_splice NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 212 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) ATGCTCTCACCTTTCATTTTT 0.299000 50 63 1.19451e-25 1.99668e-25 1 1 0 SLC22A25 387601 broad.mit.edu 37 11 62996884 62996884 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:62996884A>T ENST00000306494.6 - 1 240 c.241T>A c.(241-243)Tca>Aca p.S81T SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 81 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CTCAGATTTGAGTCGAATGGG 0.527000 32 45 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152553948 152553948 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:152553948T>C ENST00000397345.3 - 15 1483 c.1281A>G c.(1279-1281)ttA>ttG p.L427L NEB_ENST00000409198.1_Silent_p.L427L|NEB_ENST00000172853.10_Silent_p.L427L|NEB_ENST00000427231.2_Silent_p.L427L|NEB_ENST00000604864.1_Silent_p.L427L|NEB_ENST00000603639.1_Silent_p.L427L NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 427 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AAATATCTTTTAAGTAGGAAT 0.333000 38 18 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42748971 42748971 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr21:42748971T>C ENST00000330714.3 + 2 322 c.138T>C c.(136-138)ccT>ccC p.P46P MX2_ENST00000543692.1_Silent_p.P46P NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 46 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TGATGTTTCCTCCAAACTGGC 0.483000 180 14 0 0 1 0 0 FAM26E 254228 broad.mit.edu 37 6 116832866 116832866 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:116832866G>C ENST00000368599.3 + 1 58 c.7G>C c.(7-9)Gct>Cct p.A3P TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron NM_153711.2 NP_714922.1 Q8N5C1 FA26E_HUMAN family with sequence similarity 26, member E 3 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) CAACATGGATGCTTTTCAGGG 0.468000 11 55 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102486090 102486090 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:102486090A>T ENST00000413150.2 + 19 2027 c.1972A>T c.(1972-1974)Acc>Tcc p.T658S MAP4K4_ENST00000456652.1_Missense_Mutation_p.T542S|MAP4K4_ENST00000347699.4_Missense_Mutation_p.T743S|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T719S|MAP4K4_ENST00000350198.4_Missense_Mutation_p.T662S|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T712S|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T546S|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000324219.4_Missense_Mutation_p.T824S NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 743 S -> SS (in Ref. 3 and 4). intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TTAGGATCTGACCGCACTGGC 0.498000 6 9 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175334406 175334406 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:175334406G>A ENST00000367674.1 - 12 3035 c.2327C>T c.(2326-2328)cCc>cTc p.P776L TNR_ENST00000263525.2_Missense_Mutation_p.P776L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 776 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ATGAGAGATGGGACGGAAGCC 0.507000 20 15 0 0 1 0 0 LGALS9B 284194 broad.mit.edu 37 17 20358694 20358694 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:20358694G>C ENST00000423676.3 - 5 525 c.462C>G c.(460-462)ccC>ccG p.P154P LGALS9B_ENST00000324290.5_Silent_p.P154P Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B 154 sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 CAGGCTGAACGGGGACTGTGC 0.582000 9 27 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766386 57766386 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:57766386G>A ENST00000371030.2 + 1 312 c.312G>A c.(310-312)caG>caA p.Q104Q NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 104 Pro-rich. intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCCCCACCCAGGTGGGGAAGC 0.711000 7 15 0 0 1 0 0 UCP2 7351 broad.mit.edu 37 11 73689368 73689368 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:73689368C>G ENST00000310473.3 - 3 898 c.56G>C c.(55-57)gGg>gCg p.G19A UCP2_ENST00000536983.1_Missense_Mutation_p.G19A NM_003355.2 NP_003346.2 P55851 UCP2_HUMAN uncoupling protein 2 (mitochondrial, proton carrier) 19 proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|prostate(1) 5 Breast(11;0.000112) TGTGCCAGCCCCAAGAAACTT 0.532000 40 27 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65174828 65174828 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:65174828C>T ENST00000358691.5 - 13 1543 c.1377G>A c.(1375-1377)cgG>cgA p.R459R HELZ_ENST00000580168.1_Silent_p.R459R NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GGTCATGTAACCGTGACTGAT 0.378000 39 102 0 0 1 0 0 OR10V1 390201 broad.mit.edu 37 11 59480985 59480985 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:59480985C>A ENST00000307552.2 - 1 352 c.334G>T c.(334-336)Gat>Tat p.D112Y STX3_ENST00000300150.7_5'UTR NM_001005324.1 NP_001005324.1 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 AGGACACAATCAGCCCCACCC 0.507000 14 16 6.72482e-11 8.87486e-11 1 1 0 FCN1 2219 broad.mit.edu 37 9 137804379 137804379 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:137804379C>T ENST00000371806.3 - 7 642 c.551G>A c.(550-552)gGg>gAg p.G184E NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 184 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) CCAGAACTCCCCCAGCTGACT 0.632000 14 14 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117398005 117398005 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:117398005C>A ENST00000160373.3 - 11 3283 c.3192G>T c.(3190-3192)gtG>gtT p.V1064V NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1064 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AGCTCTGACCCACTGACCACG 0.443000 7 16 0.00307968 0.00325723 1 1 0 GRIA2 2891 broad.mit.edu 37 4 158256958 158256958 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:158256958G>C ENST00000296526.7 + 10 1727 c.1402G>C c.(1402-1404)Gat>Cat p.D468H GRIA2_ENST00000393815.2_Missense_Mutation_p.D421H|GRIA2_ENST00000449365.1_Missense_Mutation_p.D421H|GRIA2_ENST00000507898.1_Missense_Mutation_p.D421H|GRIA2_ENST00000264426.9_Missense_Mutation_p.D468H NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 468 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 NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AATTGTTGGTGATGGCAAGTA 0.448000 24 21 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53419726 53419726 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:53419726G>A ENST00000377942.3 - 2 2876 c.2673C>T c.(2671-2673)ccC>ccT p.P891P PCDH8_ENST00000338862.4_Silent_p.P794P NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 891 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CCGCCACAGGGGGCGCCGGCT 0.557000 15 23 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38621396 38621396 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:38621396G>T ENST00000222345.6 + 10 3636 c.3127G>T c.(3127-3129)Gac>Tac p.D1043Y NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1043 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCCTTTTGAGGACGGCACTCC 0.617000 27 51 1.13719e-10 1.49018e-10 1 1 0 RNF213 57674 broad.mit.edu 37 17 78265623 78265623 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:78265623G>T ENST00000582970.1 + 8 1611 c.1468G>T c.(1468-1470)Gga>Tga p.G490* RNF213_ENST00000319921.4_Nonsense_Mutation_p.G490*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.G539*|RNF213_ENST00000456466.1_Nonsense_Mutation_p.G490* NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 490 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TCTGGGCTCAGGAGGTAAGTC 0.542000 42 32 4.16155e-14 5.83952e-14 1 1 0 SLC22A12 116085 broad.mit.edu 37 11 64366348 64366348 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:64366348C>A ENST00000377574.1 + 6 1770 c.1023C>A c.(1021-1023)ctC>ctA p.L341L SLC22A12_ENST00000377572.1_Silent_p.L233L|SLC22A12_ENST00000336464.7_Silent_p.L307L|SLC22A12_ENST00000377567.2_Silent_p.L233L|SLC22A12_ENST00000473690.1_Silent_p.L120L NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 341 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GCACCCTGCTCCGCATGCCCG 0.657000 12 19 5.50884e-06 6.34584e-06 1 1 0 THSD7A 221981 broad.mit.edu 37 7 11630187 11630187 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:11630187C>G ENST00000423059.3 - 4 1604 c.1353G>C c.(1351-1353)caG>caC p.Q451H NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 451 TSP type-1 4. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AGAGGGCCGTCTGGTTGCCGC 0.542000 HNSCC(18;0.044) 19 60 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30936548 30936548 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:30936548C>T ENST00000355537.3 + 2 2226 c.2079C>T c.(2077-2079)aaC>aaT p.N693N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 693 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCTCCTCTAACGTCACCGAGG 0.697000 21 20 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47253707 47253707 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:47253707C>A ENST00000296861.2 - 2 1114 c.721G>T c.(721-723)Gtc>Ttc p.V241F NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 241 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) GAGGAAGGGACTTCATGGGTT 0.507000 28 50 9.80776e-20 1.51816e-19 1 1 0 ARAP1 116985 broad.mit.edu 37 11 72406093 72406093 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:72406093C>A ENST00000359373.5 - 27 4477 c.3626G>T c.(3625-3627)cGc>cTc p.R1209L ARAP1_ENST00000334211.8_Missense_Mutation_p.R964L|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1209L|ARAP1_ENST00000426523.1_Missense_Mutation_p.R964L|ARAP1_ENST00000429686.1_Missense_Mutation_p.R903L|ARAP1_ENST00000393605.3_Missense_Mutation_p.R969L|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1209L Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1209 Ras-associating. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CACGTTCCGGCGATCCAGGAT 0.607000 14 22 2.62699e-14 3.71075e-14 1 1 0 RNF125 54941 broad.mit.edu 37 18 29648277 29648277 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:29648277A>C ENST00000217740.3 + 6 1121 c.629A>C c.(628-630)gAg>gCg p.E210A RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR NM_017831.3 NP_060301.2 Q96EQ8 RN125_HUMAN ring finger protein 125, E3 ubiquitin protein ligase 210 negative regulation of type I interferon production intracellular ligase activity|zinc ion binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 AATATAATTGAGGAAGCTCTT 0.348000 20 105 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182590198 182590198 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:182590198G>T ENST00000323116.5 + 18 2181 c.1921G>T c.(1921-1923)Gag>Tag p.E641* NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 641 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) AAAAGAGTATGAGGAAATAGA 0.343000 45 64 5.48756e-27 9.30881e-27 1 1 0 PLCG2 5336 broad.mit.edu 37 16 81819701 81819701 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:81819701C>T ENST00000359376.3 + 2 321 c.107C>T c.(106-108)tCc>tTc p.S36F NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 36 PH. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TTCCGCAAGTCCACCCCCGAG 0.582000 23 6 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183700298 183700298 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:183700298T>A ENST00000334444.6 - 7 1180 c.940A>T c.(940-942)Att>Ttt p.I314F ABCC5_ENST00000265586.6_Missense_Mutation_p.I314F|ABCC5_ENST00000492216.1_5'UTR NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 314 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity p.I314F(1)|p.I314Y(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGTCCCAGAATAATTACATTA 0.502000 19 32 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63530136 63530136 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:63530136G>T ENST00000536984.2 + 11 2541 c.1847G>T c.(1846-1848)tGt>tTt p.C616F CDH7_ENST00000397968.2_Missense_Mutation_p.C616F|CDH7_ENST00000323011.3_Missense_Mutation_p.C616F Q9ULB5 CADH7_HUMAN cadherin 7, type 2 616 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) ATACTCGCCTGTGTCTTGACA 0.507000 16 8 1.99824e-07 2.42398e-07 1 1 0 COL25A1 84570 broad.mit.edu 37 4 109839346 109839346 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:109839346T>C ENST00000399132.1 - 13 1292 c.762A>G c.(760-762)ccA>ccG p.P254P COL25A1_ENST00000399127.1_Silent_p.P250P|COL25A1_ENST00000399126.1_Silent_p.P254P NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 254 Collagen-like 3. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CATTCATCCCTGGAATTCCAG 0.289000 21 29 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2048819 2048819 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:2048819C>A ENST00000262113.4 + 20 2735 c.2594C>A c.(2593-2595)aCg>aAg p.T865K MYOM2_ENST00000523438.1_Missense_Mutation_p.T290K NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 865 Fibronectin type-III 5. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GTAAATCAGACGACAACAGCC 0.532000 5 13 0.000673444 0.000728339 1 1 0 DPP6 1804 broad.mit.edu 37 7 154595624 154595624 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:154595624C>G ENST00000404039.1 + 14 1853 c.1266C>G c.(1264-1266)gaC>gaG p.D422E DPP6_ENST00000332007.3_Missense_Mutation_p.D424E|DPP6_ENST00000427557.1_Missense_Mutation_p.D379E|DPP6_ENST00000377770.3_Missense_Mutation_p.D486E NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 486 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GGGACTGGGACGTGACCAAGA 0.557000 10 7 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149148096 149148096 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:149148096T>A ENST00000247930.4 - 4 1404 c.1081A>T c.(1081-1083)Agt>Tgt p.S361C NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 361 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCACCAGCACTGGGATCTGTC 0.567000 13 51 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6374563 6374563 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:6374563T>C ENST00000262483.8 - 12 1629 c.1542A>G c.(1540-1542)ccA>ccG p.P514P ACKR6_ENST00000421306.3_Silent_p.P478P|ACKR6_ENST00000576664.1_5'UTR NM_031220.3 NP_112497.2 TCCTCCGTCCTGGGCGCTGGA 0.687000 7 6 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3135565 3135565 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:3135565G>T ENST00000400569.3 - 15 2522 c.2189C>A c.(2188-2190)aCt>aAt p.T730N MYOM1_ENST00000356443.4_Missense_Mutation_p.T730N|MYOM1_ENST00000261606.7_Missense_Mutation_p.T730N P52179 MYOM1_HUMAN myomesin 1 730 Fibronectin type-III 2. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CCCTACCACAGTCACCTCCGT 0.448000 5 43 5.9392e-07 7.11173e-07 1 1 0 SPTBN4 57731 broad.mit.edu 37 19 41060081 41060081 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:41060081G>T ENST00000352632.3 + 23 4789 c.4703G>T c.(4702-4704)gGg>gTg p.G1568V SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1568V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1568V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1568V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.G244V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G311V Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1568 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGGCGCATGGGCCGCGCCTG 0.746000 3 2 0.150653 0.152397 1 1 0 EMX2 2018 broad.mit.edu 37 10 119305185 119305185 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:119305185T>A ENST00000553456.3 + 2 1273 c.449T>A c.(448-450)cTg>cAg p.L150Q EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron NM_004098.3 NP_004089.1 Q04743 EMX2_HUMAN empty spiracles homeobox 2 150 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2) 12 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) CACAACGCGCTGGCCCGAAAG 0.617000 32 9 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336469 30336469 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:30336469C>T ENST00000375377.1 - 2 374 c.273G>A c.(271-273)tcG>tcA p.S91S NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 91 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACCCCGCCTCCGAGGTTCTGG 0.552000 18 29 0 0 1 0 0 C15orf52 388115 broad.mit.edu 37 15 40630016 40630016 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:40630016G>T ENST00000397536.2 - 2 129 c.94C>A c.(94-96)Cgg>Agg p.R32R C15orf52_ENST00000559313.1_Silent_p.R242R Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 242 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) ATCTGCTCCCGCTCCTGCTTC 0.697000 12 4 1.08611e-07 1.324e-07 1 1 0 IFNA10 3446 broad.mit.edu 37 9 21206547 21206547 + Nonsense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:21206547T>A ENST00000357374.2 - 1 595 c.550A>T c.(550-552)Aga>Tga p.R184* NM_002171.1 NP_002162.1 P01566 IFN10_HUMAN interferon, alpha 10 184 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) CTCCTTAATCTTTTTTGCAAG 0.388000 15 174 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17817340 17817340 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:17817340G>C ENST00000378814.5 - 17 1910 c.1911C>G c.(1909-1911)ccC>ccG p.P637P KIF13A_ENST00000378816.5_Silent_p.P637P|KIF13A_ENST00000378826.2_Silent_p.P637P|KIF13A_ENST00000378843.2_Silent_p.P637P|KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000259711.6_Silent_p.P637P NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 637 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding p.P637P(2) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GCTGCCTGTCGGGGGAGAGCT 0.592000 10 51 0 0 1 0 0 SERPINC1 462 broad.mit.edu 37 1 173881080 173881080 + Nonsense_Mutation SNP G G A rs121909562 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:173881080G>A ENST00000367698.3 - 3 599 c.481C>T c.(481-483)Cga>Tga p.R161* NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 161 R -> Q (in AT3D; type-II; Geneva). blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) CGATAGAGTCGGCAGTTCAGT 0.403000 63 99 0 0 1 0 0 ALDH1A1 216 broad.mit.edu 37 9 75533738 75533738 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:75533738C>A ENST00000297785.3 - 8 802 c.747_splice c.e8-1 p.V250_splice ALDH1A1_ENST00000376939.1_Intron NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 250 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) AACTTGCCAACCTGAAAGGGA 0.463000 11 39 0.00829132 0.0086828 1 1 0 MUC4 4585 broad.mit.edu 37 3 195515800 195515800 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:195515800C>A ENST00000463781.3 - 2 3110 c.2651G>T c.(2650-2652)aGa>aTa p.R884I MUC4_ENST00000475231.1_Missense_Mutation_p.R884I|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 889 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCCTGTCGGTCTCCCTGCAGT 0.597000 8 14 1.06961e-07 1.30819e-07 1 1 0 SATB2 23314 broad.mit.edu 37 2 200173646 200173646 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:200173646T>A ENST00000443023.1 - 9 2865 c.1400A>T c.(1399-1401)aAc>aTc p.N467I SATB2_ENST00000417098.1_Missense_Mutation_p.N526I|SATB2_ENST00000260926.5_Missense_Mutation_p.N526I|SATB2_ENST00000457245.1_Missense_Mutation_p.N526I|SATB2_ENST00000428695.1_Missense_Mutation_p.N408I Q9UPW6 SATB2_HUMAN SATB homeobox 2 526 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGGGCTTGGGTTCTCCTTCCA 0.567000 11 37 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103467481 103467481 + Splice_Site SNP T T G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:103467481T>G ENST00000358392.2 - 24 2495 c.2178_splice c.e24+1 p.K726_splice COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Splice_Site_p.K675_splice|COL11A1_ENST00000370096.3_Splice_Site_p.K714_splice|COL11A1_ENST00000512756.1_Splice_Site_p.K598_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 714 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGTAACTTACTTTTTCACCAG 0.353000 10 48 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67305517 67305517 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:67305517T>A ENST00000392676.3 - 4 419 c.355A>T c.(355-357)Agt>Tgt p.S119C ABCA5_ENST00000392677.2_Missense_Mutation_p.S119C|ABCA5_ENST00000588877.1_Missense_Mutation_p.S119C Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 119 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) TTAGAGAGACTGGATGTTAAC 0.313000 70 62 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237831201 237831201 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:237831201G>C ENST00000366574.2 + 58 8850 c.8533G>C c.(8533-8535)Gct>Cct p.A2845P RYR2_ENST00000542537.1_Missense_Mutation_p.A2829P|RYR2_ENST00000360064.6_Missense_Mutation_p.A2843P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2845 4 X approximate repeats.|Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGAAATGATGGCTGAAAACTA 0.269000 6 4 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982883 57982883 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:57982883C>A ENST00000309433.6 + 1 667 c.667C>A c.(667-669)Ccc>Acc p.P223T NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TATCATCTTCCCCTTTACACT 0.448000 33 45 1.30897e-18 1.99296e-18 1 1 0 CACNA1H 8912 broad.mit.edu 37 16 1255247 1255247 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:1255247G>T ENST00000348261.5 + 11 2833 c.2585G>T c.(2584-2586)gGc>gTc p.G862V CACNA1H_ENST00000565831.1_Missense_Mutation_p.G862V|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G862V NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 862 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) ATCTTCGACGGCATCATCGTG 0.602000 16 18 1.15919e-05 1.32504e-05 1 1 0 HNRNPA0 10949 broad.mit.edu 37 5 137089563 137089563 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:137089563T>A ENST00000314940.4 - 1 476 c.193A>T c.(193-195)Atg>Ttg p.M65L NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 65 RRM 1. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAGGCGGCCATGGCGGCGTCC 0.667000 54 12 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247592948 247592948 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:247592948A>T ENST00000366497.2 + 5 2998 c.2218A>T c.(2218-2220)Agc>Tgc p.S740C NLRP3_ENST00000366496.2_Missense_Mutation_p.S740C|NLRP3_ENST00000336119.3_Missense_Mutation_p.S740C|NLRP3_ENST00000391828.3_Missense_Mutation_p.S740C|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Intron NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 797 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCTGAGCACCAGCCAGAGTCT 0.493000 59 39 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186944247 186944247 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:186944247C>A ENST00000337774.5 - 12 1892 c.1503G>T c.(1501-1503)ccG>ccT p.P501P NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 501 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CACGTAGGGTCGGATCTTCCG 0.567000 5 5 0.217242 0.218566 1 1 0 PORCN 64840 broad.mit.edu 37 X 48372702 48372702 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:48372702C>T ENST00000367574.4 + 7 1053 c.548C>T c.(547-549)aCg>aTg p.T183M PORCN_ENST00000326194.6_Missense_Mutation_p.T265M|PORCN_ENST00000361988.3_Missense_Mutation_p.T254M|PORCN_ENST00000355961.4_Missense_Mutation_p.T260M|PORCN_ENST00000537758.1_Missense_Mutation_p.T265M|PORCN_ENST00000359882.4_Missense_Mutation_p.T259M|PORCN_ENST00000355092.3_Missense_Mutation_p.T259M Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) 265 Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCCGAGGCCACGGCCACGTTG 0.622000 15 4 0 0 1 0 0 REL 5966 broad.mit.edu 37 2 61149604 61149604 + Silent SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:61149604A>T ENST00000295025.7 + 11 2114 c.1794A>T c.(1792-1794)tcA>tcT p.S598S REL_ENST00000394479.3_Silent_p.S566S NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog 598 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) GTCAGTATTCAGGTATTGGCA 0.348000 A Hodgkin Lymphoma 11 60 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140392679 140392679 + Silent SNP C C A rs147570932 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:140392679C>A ENST00000406427.1 - 17 2112 c.1776G>T c.(1774-1776)ccG>ccT p.P592P PNPLA7_ENST00000277531.4_Silent_p.P567P|PNPLA7_ENST00000371457.1_Silent_p.P173P NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 567 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GGACGACGGTCGGCTGCTTCC 0.647000 14 18 3.27435e-08 4.05474e-08 1 1 0 CHD4 1108 broad.mit.edu 37 12 6707248 6707248 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:6707248C>G ENST00000309577.6 - 12 1867 c.1704G>C c.(1702-1704)caG>caC p.Q568H CHD4_ENST00000544484.1_Missense_Mutation_p.Q565H|CHD4_ENST00000357008.2_Missense_Mutation_p.Q568H|CHD4_ENST00000544040.1_Missense_Mutation_p.Q561H Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 568 Chromo 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GGAACATCACCTGACAGTGCA 0.468000 70 34 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127728888 127728888 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:127728888G>T ENST00000508053.1 - 16 2379 c.1405C>A c.(1405-1407)Cct>Act p.P469T FBN2_ENST00000508989.1_Missense_Mutation_p.P436T|FBN2_ENST00000262464.4_Missense_Mutation_p.P469T P35556 FBN2_HUMAN fibrillin 2 469 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCAACGCCAGGAGAAAAGCCA 0.582000 50 81 1.21353e-23 1.98166e-23 1 1 0 USP13 8975 broad.mit.edu 37 3 179460065 179460065 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:179460065G>T ENST00000263966.3 + 12 1932 c.1461G>T c.(1459-1461)cgG>cgT p.R487R USP13_ENST00000496897.1_Silent_p.R422R|USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 487 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GTCAGACCCGGAAAGTCCGCT 0.502000 18 34 0.000566183 0.000617277 1 1 0 CREB3L1 90993 broad.mit.edu 37 11 46321504 46321504 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:46321504G>T ENST00000529193.1 + 2 572 c.121G>T c.(121-123)Gac>Tac p.D41Y CREB3L1_ENST00000288400.3_Missense_Mutation_p.D41Y Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 41 Required for transcriptional activation. response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) TGAGCACCTGGACCACTTTAC 0.532000 T FUS myxofibrosarcoma 7 21 0.0293803 0.030214 1 1 0 PSG7 5676 broad.mit.edu 37 19 43439647 43439647 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:43439647G>T ENST00000446844.3 - 0 428 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TGTCTTCCTGGGTGACATTCT 0.433000 361 84 5.58027e-160 1.06448e-159 1 1 0 KCNJ3 3760 broad.mit.edu 37 2 155711652 155711652 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:155711652G>T ENST00000295101.2 + 3 1810 c.1333G>T c.(1333-1335)Ggc>Tgc p.G445C NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 445 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) TTCAGTTCCGGGCAACTCAGA 0.433000 52 25 1.4374e-25 2.39997e-25 1 1 0 DOCK10 55619 broad.mit.edu 37 2 225635345 225635345 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:225635345C>A ENST00000409592.3 - 54 6317 c.6204G>T c.(6202-6204)atG>atT p.M2068I DOCK10_ENST00000258390.7_Missense_Mutation_p.M2074I Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 2074 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GTGCATAGGCCATTGGCCCAG 0.458000 21 16 6.44725e-10 8.36005e-10 1 1 0 CAMTA1 23261 broad.mit.edu 37 1 7724158 7724158 + Silent SNP C C A rs144983513 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:7724158C>A ENST00000303635.7 + 9 1758 c.1551C>A c.(1549-1551)ccC>ccA p.P517P CAMTA1_ENST00000439411.2_Silent_p.P517P NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 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) ACTCGCCACCCGGGGAGCGGA 0.592000 T WWTR1 epitheliod hemangioendothelioma 19 56 2.94398e-08 3.65172e-08 1 1 0 LGALS17A 400696 broad.mit.edu 37 19 40172730 40172730 + RNA SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:40172730T>C ENST00000412609.1 + 0 231 GGTCATTGGGTGGTCATGAAC 0.512000 6 10 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26455089 26455089 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:26455089G>T ENST00000265944.5 + 27 3259 c.3093G>T c.(3091-3093)tgG>tgT p.W1031C MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1031 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TCGATAACTGGGCTCTTGGAA 0.403000 84 108 9.25274e-37 1.66058e-36 1 1 0 CLEC9A 283420 broad.mit.edu 37 12 10217424 10217424 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:10217424C>A ENST00000355819.1 + 8 1178 c.565C>A c.(565-567)Caa>Aaa p.Q189K NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 189 C-type lectin. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 CTGGCTTTGGCAAGATGGCTC 0.448000 31 23 2.65835e-16 3.89961e-16 1 1 0 SPTBN4 57731 broad.mit.edu 37 19 41060080 41060080 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:41060080G>T ENST00000352632.3 + 23 4788 c.4702G>T c.(4702-4704)Ggg>Tgg p.G1568W SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1568W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1568W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1568W|SPTBN4_ENST00000392023.1_Missense_Mutation_p.G244W|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G311W Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1568 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCAGGCGCATGGGCCGCGCCT 0.741000 3 2 0.150653 0.152397 1 1 0 CFB 629 broad.mit.edu 37 6 31901533 31901533 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:31901533T>C ENST00000556679.1 + 3 458 c.403T>C c.(403-405)Tgg>Cgg p.W135R C2_ENST00000299367.5_Missense_Mutation_p.W197R|C2_ENST00000442278.2_Missense_Mutation_p.W65R|C2_ENST00000418949.2_Missense_Mutation_p.W197R|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Silent_p.S28S|CFB_ENST00000456570.1_Missense_Mutation_p.W135R|C2_ENST00000452323.2_Missense_Mutation_p.W74R P00751 CFAB_HUMAN complement factor B 211 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CAACGGGGTCTGGAGTGGAAC 0.652000 85 8 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103317388 103317388 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:103317388C>G ENST00000520539.1 - 21 3358 c.2752G>C c.(2752-2754)Gga>Cga p.G918R UBR5_ENST00000220959.4_Missense_Mutation_p.G918R|UBR5_ENST00000521922.1_Missense_Mutation_p.G912R NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 918 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTTCGATTTCCATCACATCTG 0.393000 61 121 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6014980 6014980 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:6014980G>A ENST00000259569.5 - 1 638 c.628C>T c.(628-630)Ctt>Ttt p.L210F RANBP6_ENST00000485372.1_Intron NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 210 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TCATTAGCAAGTACAAATGCA 0.408000 8 86 0 0 1 0 0 BMP15 9210 broad.mit.edu 37 X 50659413 50659413 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:50659413C>T ENST00000252677.3 + 2 985 c.985C>T c.(985-987)Cgc>Tgc p.R329C NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 329 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) CCGAGTACTACGCGATGGTCT 0.507000 28 10 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39433587 39433587 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:39433587C>G ENST00000280481.7 + 14 7595 c.7379C>G c.(7378-7380)aCg>aGg p.T2460R NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2460 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ACCTTTTTTACGTCATCCAAG 0.552000 16 60 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719963 140719963 + Silent SNP G G C rs147569184 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140719963G>C ENST00000394576.2 + 1 1425 c.1425G>C c.(1423-1425)acG>acC p.T475T PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCAGTGACGGCCCATGACC 0.537000 15 87 0 0 1 0 0 TFAP2C 7022 broad.mit.edu 37 20 55209258 55209258 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:55209258G>C ENST00000201031.2 + 5 1099 c.856G>C c.(856-858)Ggg>Cgg p.G286R TFAP2C_ENST00000544508.1_Missense_Mutation_p.G117R NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 286 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) GGACAAGATTGGGTTGAATCT 0.463000 12 42 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59912039 59912039 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:59912039G>T ENST00000256858.6 + 11 1911 c.1663G>T c.(1663-1665)Gag>Tag p.E555* KIAA1468_ENST00000398130.2_Nonsense_Mutation_p.E555* Q9P260 K1468_HUMAN KIAA1468 555 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) TCTACATCCTGAGCCTAAAGA 0.373000 17 12 3.52763e-06 4.08897e-06 1 1 0 ZNF792 126375 broad.mit.edu 37 19 35449726 35449726 + Nonsense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:35449726T>A ENST00000404801.1 - 4 1419 c.1033A>T c.(1033-1035)Aaa>Taa p.K345* ZNF792_ENST00000605484.1_Nonsense_Mutation_p.K278* NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CTGAAGAATTTCCCACAGTCA 0.512000 29 24 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197297552 197297552 + Splice_Site SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:197297552A>G ENST00000367400.3 + 2 206 c.70_splice c.e2-1 p.N24_splice CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Splice_Site_p.N24_splice|CRB1_ENST00000538660.1_Splice_Site_p.N24_splice NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 24 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTCCTTGTAGATTCCTTTTGC 0.308000 21 13 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303777 151303777 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:151303777C>G ENST00000370323.4 - 4 632 c.316G>C c.(316-318)Gat>Cat p.D106H MAGEA10_ENST00000244096.3_Missense_Mutation_p.D106H|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 106 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GAGCCCTCATCAGATTGATCT 0.527000 133 23 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39408722 39408722 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:39408722T>A ENST00000257408.4 + 1 250 c.153T>A c.(151-153)acT>acA p.T51T NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 51 carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GAGCTGTTACTGGATTCTCTG 0.408000 22 59 0 0 1 0 0 SLC7A10 56301 broad.mit.edu 37 19 33703799 33703799 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:33703799G>T ENST00000253188.3 - 3 612 c.466C>A c.(466-468)Ccc>Acc p.P156T NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 156 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) GTGGTGGGGGGGATGCAGTTG 0.632000 42 38 9.9998e-32 1.75854e-31 1 1 0 HNRNPUL1 11100 broad.mit.edu 37 19 41778033 41778033 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:41778033G>T ENST00000392006.3 + 3 638 c.465G>T c.(463-465)ccG>ccT p.P155P HNRNPUL1_ENST00000352456.3_Silent_p.P55P|HNRNPUL1_ENST00000602130.1_Silent_p.P155P|HNRNPUL1_ENST00000263367.3_Silent_p.P66P|HNRNPUL1_ENST00000593587.1_Silent_p.P55P|HNRNPUL1_ENST00000378215.4_Silent_p.P112P|HNRNPUL1_ENST00000595018.1_Silent_p.P55P|HNRNPUL1_ENST00000594207.1_3'UTR NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 155 nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 GCTTCCTCCCGCCTGAAGCTT 0.517000 27 152 2.41591e-17 3.59004e-17 1 1 0 TRIM54 57159 broad.mit.edu 37 2 27528552 27528552 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:27528552G>T ENST00000296098.4 + 6 1106 c.836G>T c.(835-837)cGg>cTg p.R279L TRIM54_ENST00000380075.2_Missense_Mutation_p.R237L NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 237 COS. cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGCTGGCCCGGGAGCAAGAG 0.627000 9 11 0.000442599 0.00048325 1 1 0 C10orf120 399814 broad.mit.edu 37 10 124457544 124457544 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:124457544C>G ENST00000329446.4 - 3 744 c.713G>C c.(712-714)aGa>aCa p.R238T NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 238 p.R238T(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) TATTTCTCGTCTTTTTGTGTT 0.358000 38 11 0 0 1 0 0 HEPN1 641654 broad.mit.edu 37 11 124789807 124789807 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:124789807C>A ENST00000408930.5 + 1 662 c.161C>A c.(160-162)cCt>cAt p.P54H HEPACAM_ENST00000298251.4_3'UTR NM_001037558.2 NP_001032647.2 Q6WQI6 HEPN1_HUMAN hepatocellular carcinoma, down-regulated 1 54 cytoplasm large_intestine(1)|lung(1)|stomach(1) 3 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287) GCCCTCTCTCCTCACACAGTA 0.498000 50 24 6.61955e-31 1.15725e-30 1 1 0 GPR111 222611 broad.mit.edu 37 6 47646847 47646847 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:47646847C>A ENST00000398742.2 + 3 293 c.244C>A c.(244-246)Ctt>Att p.L82I GPR111_ENST00000296862.1_Missense_Mutation_p.L150I|GPR111_ENST00000507065.1_Missense_Mutation_p.L82I Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 150 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.L150I(2)|p.L82I(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CTGCCAGACTCTTAATGCCCT 0.458000 55 40 3.21867e-24 5.31046e-24 1 1 0 FAT3 120114 broad.mit.edu 37 11 92623878 92623878 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:92623878G>T ENST00000298047.6 + 27 13386 c.13369G>T c.(13369-13371)Gag>Tag p.E4457* FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Nonsense_Mutation_p.E4307*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.E4425*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.E760* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4457 Pro-rich. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCCTCTCCCGGAGGACTTCCC 0.582000 TCGA Ovarian(4;0.039) 14 23 0.000151284 0.000168396 1 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121650872 121650872 + Missense_Mutation SNP C C A rs140937221 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:121650872C>A ENST00000393386.2 + 12 2183 c.1772C>A c.(1771-1773)cCc>cAc p.P591H PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P591H NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 591 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GGCTCCAGTCCCGCAACTTCT 0.398000 32 41 2.70662e-09 3.44943e-09 1 1 0 ST8SIA3 51046 broad.mit.edu 37 18 55024371 55024371 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:55024371G>A ENST00000324000.3 + 3 2564 c.530G>A c.(529-531)gGa>gAa p.G177E NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 177 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) AGCCAGTGTGGACAAGAAATA 0.423000 8 72 0 0 1 0 0 GNG4 2786 broad.mit.edu 37 1 235715445 235715445 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:235715445G>C ENST00000391854.2 - 4 645 c.192C>G c.(190-192)ccC>ccG p.P64P GNG4_ENST00000450593.1_Silent_p.P64P|GNG4_ENST00000366598.4_Silent_p.P64P|GNG4_ENST00000366597.1_Silent_p.P64P|GNG4_ENST00000484517.1_5'UTR NM_001098722.1|NM_004485.3 NP_001092192.1|NP_004476.1 P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), gamma 4 64 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) TCTCGCGAAAGGGGTTTTCTG 0.522000 95 68 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38622674 38622674 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:38622674G>C ENST00000413689.1 - 17 3169 c.2976C>G c.(2974-2976)ccC>ccG p.P992P SCN5A_ENST00000449557.2_Silent_p.P992P|SCN5A_ENST00000450102.2_Silent_p.P992P|SCN5A_ENST00000443581.1_Silent_p.P992P|SCN5A_ENST00000451551.2_Silent_p.P992P|SCN5A_ENST00000414099.2_Silent_p.P992P|SCN5A_ENST00000333535.4_Silent_p.P992P|SCN5A_ENST00000423572.2_Silent_p.P992P|SCN5A_ENST00000425664.1_Silent_p.P992P|SCN5A_ENST00000455624.2_Silent_p.P992P NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 992 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CAAGGGCTGCGGGCTTCTGAG 0.687000 13 3 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844903 18844903 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:18844903G>T ENST00000412938.1 + 0 3153 GCTTCAGCGTGCCTGCGATGG 0.577000 13 78 0.0135373 0.0140674 1 1 0 PCDHA5 56143 broad.mit.edu 37 5 140202852 140202852 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140202852G>T ENST00000529859.1 + 1 1492 c.1492G>T c.(1492-1494)Gtg>Ttg p.V498L PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V498L|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V498L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCGGCGGGTGGGCGAGCG 0.677000 86 17 6.71967e-41 1.22671e-40 1 1 0 ABCA6 23460 broad.mit.edu 37 17 67132284 67132284 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:67132284A>T ENST00000284425.2 - 4 583 c.409T>A c.(409-411)Tta>Ata p.L137I ABCA6_ENST00000590645.1_Missense_Mutation_p.L137I NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 137 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) AAAAATATTAACTTATAAGAG 0.318000 28 13 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133943133 133943133 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:133943133A>T ENST00000285928.2 + 19 2392 c.2323A>T c.(2323-2325)Agt>Tgt p.S775C NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 775 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 AGCCAGTGACAGTGAGACCGA 0.537000 30 51 0 0 1 0 0 CARD17 440068 broad.mit.edu 37 11 104971435 104971435 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:104971435C>A ENST00000375707.1 - 2 95 c.79G>T c.(79-81)Ggt>Tgt p.G27C CASP1_ENST00000598974.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron NM_001007232.1 NP_001007233.1 caspase recruitment domain family, member 17 breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 6 AATAATTCACCCAGTAAGCCA 0.443000 53 154 8.72198e-27 1.47283e-26 1 1 0 FER 2241 broad.mit.edu 37 5 108207179 108207179 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:108207179A>G ENST00000281092.4 + 7 1163 c.779A>G c.(778-780)tAc>tGc p.Y260C FER_ENST00000536402.1_Missense_Mutation_p.Y260C|FER_ENST00000438717.2_Missense_Mutation_p.Y85C NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 260 Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) AGTACAGAATACAATAATTTC 0.323000 25 55 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36370111 36370111 + Missense_Mutation SNP G G T rs148071646 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:36370111G>T ENST00000221891.4 + 16 2041 c.1849G>T c.(1849-1851)Gtg>Ttg p.V617L APLP1_ENST00000537454.2_Missense_Mutation_p.V577L|APLP1_ENST00000586861.1_Missense_Mutation_p.V610L NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 616 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGCCATGGCGTGGTGGAGGT 0.667000 39 62 1.49673e-21 2.38386e-21 1 1 0 NOP16 51491 broad.mit.edu 37 5 175813905 175813905 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:175813905C>A ENST00000389158.5 - 3 657 c.222G>T c.(220-222)aaG>aaT p.K74N NOP16_ENST00000509257.1_Missense_Mutation_p.K74N|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Missense_Mutation_p.K74N Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein 74 nucleolus central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 8 CCTCCATGGCCTTCACCTGCA 0.478000 17 46 5.01169e-05 5.64195e-05 1 1 0 PALD1 27143 broad.mit.edu 37 10 72292441 72292441 + Missense_Mutation SNP G G T rs145337663 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:72292441G>T ENST00000263563.6 + 6 966 c.698G>T c.(697-699)tGg>tTg p.W233L NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 GAGGACCTGTGGGGGGAGCCC 0.602000 48 83 1.22102e-19 1.88807e-19 1 1 0 GIMAP8 155038 broad.mit.edu 37 7 150174422 150174422 + Silent SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:150174422T>C ENST00000307271.3 + 5 2126 c.1552T>C c.(1552-1554)Ttg>Ctg p.L518L NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 518 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAAGCGCTGTTTGTCCTGCTG 0.527000 50 52 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958585 143958585 + Missense_Mutation SNP G G C rs142484434 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:143958585G>C ENST00000292427.4 - 3 481 c.449C>G c.(448-450)tCg>tGg p.S150W CYP11B1_ENST00000517471.1_Missense_Mutation_p.S150W|CYP11B1_ENST00000377675.3_Missense_Mutation_p.S221W NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 150 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AGCGTTGGGCGACAGCACTTC 0.622000 Familial Hyperaldosteronism type I 6 32 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43519229 43519229 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:43519229C>T ENST00000395891.1 + 17 3725 c.3120C>T c.(3118-3120)aaC>aaT p.N1040N HECW1_ENST00000453890.1_Silent_p.N1006N NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1040 WW 2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TGGACCACAACAGTCGAGCTA 0.488000 83 101 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159687218 159687218 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:159687218T>C ENST00000297267.9 + 21 5587 c.5387T>C c.(5386-5388)gTg>gCg p.V1796A FNDC1_ENST00000340366.6_Missense_Mutation_p.V1733A NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1796 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGAAAGTTCGTGGGAGTTGTT 0.468000 37 38 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130221303 130221303 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:130221303C>G ENST00000323301.4 + 6 878 c.274C>G c.(274-276)Cag>Gag p.Q92E LRSAM1_ENST00000373324.4_Missense_Mutation_p.Q92E|LRSAM1_ENST00000373322.1_Missense_Mutation_p.Q92E|LRSAM1_ENST00000300417.6_Missense_Mutation_p.Q92E NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 92 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 CCACGATAATCAGCTGACAGC 0.572000 15 35 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103128688 103128688 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:103128688C>A ENST00000295269.4 + 7 1972 c.1515C>A c.(1513-1515)atC>atA p.I505I NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 505 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 AGGCTGGAATCGAAGATGTGT 0.463000 29 65 1.74807e-11 2.3339e-11 1 1 0 SAMD9 54809 broad.mit.edu 37 7 92733351 92733351 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:92733351C>A ENST00000379958.2 - 3 2329 c.2060G>T c.(2059-2061)gGc>gTc p.G687V NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 687 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGACACTTTGCCACCTCGATA 0.353000 64 100 4.09171e-25 6.80121e-25 1 1 0 NAV3 89795 broad.mit.edu 37 12 78579398 78579398 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:78579398G>T ENST00000397909.2 + 31 5883 c.5710G>T c.(5710-5712)Gct>Tct p.A1904S NAV3_ENST00000536525.2_Missense_Mutation_p.A1882S|NAV3_ENST00000266692.7_Missense_Mutation_p.A1705S|NAV3_ENST00000228327.6_Missense_Mutation_p.A1882S|NAV3_ENST00000552300.1_3'UTR Q8IVL0 NAV3_HUMAN neuron navigator 3 1904 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GCTAGATGATGCTGGTGATGC 0.358000 HNSCC(70;0.22) 8 31 0.00448238 0.00471729 1 1 0 ZSCAN4 201516 broad.mit.edu 37 19 58190173 58190173 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:58190173G>T ENST00000318203.5 + 5 1899 c.1202G>T c.(1201-1203)tGt>tTt p.C401F NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 401 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGTCCCTTTTGTAAGACAAGC 0.468000 130 25 8.39346e-61 1.58685e-60 1 1 0 ADCY9 115 broad.mit.edu 37 16 4016167 4016167 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:4016167T>C ENST00000294016.3 - 11 4209 c.3671A>G c.(3670-3672)gAc>gGc p.D1224G NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1224 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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCCTCTGTAGTCGAAGTCATA 0.577000 23 99 0 0 1 0 0 RING1 6015 broad.mit.edu 37 6 33177789 33177789 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:33177789A>G ENST00000374656.4 + 4 545 c.337A>G c.(337-339)Agc>Ggc p.S113G RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 113 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 GATCTATCCTAGCCGGGAGGA 0.572000 58 6 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065771 23065771 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:23065771G>T ENST00000246006.4 - 1 1206 c.1059C>A c.(1057-1059)ccC>ccA p.P353P NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 353 EGF-like 3; calcium-binding (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CCTGGGCACAGGGGGAGTCCT 0.637000 10 36 9.70103e-10 1.2492e-09 1 1 0 SLC9B1 150159 broad.mit.edu 37 4 103822417 103822417 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:103822417C>T ENST00000296422.7 - 12 1546 c.1405G>A c.(1405-1407)Gtg>Atg p.V469M SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 469 integral to membrane solute:hydrogen antiporter activity ACTGTCATCACATCCTTCGCA 0.473000 12 196 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160494825 160494825 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:160494825G>A ENST00000356956.1 + 35 5132 c.4984G>A c.(4984-4986)Gac>Aac p.D1662N NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1662 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CTCTATTGTTGACTTGTCTCC 0.418000 21 32 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225670000 225670000 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:225670000C>T ENST00000409592.3 - 36 4069 c.3956G>A c.(3955-3957)cGa>cAa p.R1319Q DOCK10_ENST00000258390.7_Missense_Mutation_p.R1325Q Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1325 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTTGTCAAATCGAAGAGTTGA 0.393000 26 71 0 0 1 0 0 COCH 1690 broad.mit.edu 37 14 31346777 31346777 + Splice_Site SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:31346777G>A ENST00000460581.2 + 2 292 c.e2-1 COCH_ENST00000216361.4_Splice_Site|COCH_ENST00000475087.1_Splice_Site|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Splice_Site O43405 COCH_HUMAN cochlin sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) TTTTTCTTCAGCTCCCATTGC 0.443000 15 80 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70929817 70929817 + Silent SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:70929817A>C ENST00000334414.6 - 29 6113 c.6069T>G c.(6067-6069)gtT>gtG p.V2023V PTPRB_ENST00000550857.1_Silent_p.V1715V|PTPRB_ENST00000538708.1_Silent_p.V1715V|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Silent_p.V1935V|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000451516.2_Silent_p.V1715V|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000261266.5_Silent_p.V1805V NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1805 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 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) GGCCCTTCTCAACACACTGGG 0.498000 19 28 0 0 1 0 0 KRT8P12 90133 broad.mit.edu 37 3 160285616 160285616 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:160285616G>T ENST00000468527.1 + 0 627 GGTTTAGCCTGCTGCCTCCAC 0.512000 3 6 1 1 1 1 0 GIMAP8 155038 broad.mit.edu 37 7 150171653 150171653 + Silent SNP G G A rs149276246 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:150171653G>A ENST00000307271.3 + 4 1810 c.1236G>A c.(1234-1236)gcG>gcA p.A412A NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 412 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding p.A412A(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AAAGGCAGGCGGACGAGCTCC 0.413000 17 128 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20921055 20921055 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:20921055C>T ENST00000263205.7 + 7 1061 c.992C>T c.(991-993)gCg>gTg p.A331V MED15_ENST00000542773.1_Missense_Mutation_p.A136V|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.A331V|MED15_ENST00000406969.1_Missense_Mutation_p.A305V|MED15_ENST00000541476.1_Missense_Mutation_p.A305V|MED15_ENST00000382974.2_Missense_Mutation_p.A260V|MED15_ENST00000425759.2_Missense_Mutation_p.A220V NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 331 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) GTGTCACAGGCGCAAGCTCTC 0.587000 15 104 0 0 1 0 0 MT1HL1 645745 broad.mit.edu 37 1 237167587 237167587 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:237167587C>A ENST00000464121.2 - 1 131 c.86G>T c.(85-87)tGc>tTc p.C29F NM_001276687.1 NP_001263616.1 metallothionein 1H-like 1 GCTCTTCTTGCAGGAGGTGCA 0.622000 5 32 0.014758 0.0152718 1 1 0 NOS3 4846 broad.mit.edu 37 7 150696404 150696404 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:150696404G>C ENST00000297494.3 + 9 1440 c.1083G>C c.(1081-1083)gaG>gaC p.E361D NOS3_ENST00000467517.1_Missense_Mutation_p.E361D|NOS3_ENST00000461406.1_Missense_Mutation_p.E155D|NOS3_ENST00000484524.1_Missense_Mutation_p.E361D NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 361 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TGAGCACTGAGATCGGCACGA 0.632000 72 93 0 0 1 0 0 OR9G1 390174 broad.mit.edu 37 11 56468138 56468138 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:56468138C>A ENST00000312153.1 + 1 275 c.275C>A c.(274-276)tCc>tAc p.S92Y NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 AAAAGCATCTCCTTTGCTGGC 0.498000 21 85 7.92952e-12 1.06636e-11 1 1 0 E2F7 144455 broad.mit.edu 37 12 77436980 77436980 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:77436980C>A ENST00000322886.7 - 7 1224 c.e7-1 E2F7_ENST00000416496.2_Splice_Site NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 CGTACCTTTGCTTGAAGATAT 0.443000 44 51 4.01765e-15 5.74061e-15 1 1 0 RNF180 285671 broad.mit.edu 37 5 63509792 63509792 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:63509792G>T ENST00000389100.4 + 4 711 c.639G>T c.(637-639)caG>caT p.Q213H RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.Q213H NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 213 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) TTGTTCCCCAGCTTGTGACTG 0.413000 37 61 1.04352e-10 1.37106e-10 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113299447 113299447 + Silent SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:113299447T>A ENST00000297405.5 - 58 9421 c.9177A>T c.(9175-9177)ccA>ccT p.P3059P CSMD3_ENST00000455883.2_Silent_p.P2890P|CSMD3_ENST00000352409.3_Silent_p.P2989P|CSMD3_ENST00000343508.3_Silent_p.P3019P NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3059 Sushi 22. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CGGGAGTACCTGGATCGCCAC 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 94 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129370402 129370402 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:129370402C>A ENST00000393238.3 - 6 2224 c.1884G>T c.(1882-1884)gtG>gtT p.V628V TMCC1_ENST00000426664.2_Silent_p.V514V|TMCC1_ENST00000432054.2_Silent_p.V304V|TMCC1_ENST00000329333.5_Silent_p.V449V NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 628 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 CAATAAAAACCACAAGGAATA 0.493000 56 67 3.07002e-29 5.28626e-29 1 1 0 GPHN 10243 broad.mit.edu 37 14 67431988 67431988 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:67431988G>T ENST00000478722.1 + 9 2030 c.909G>T c.(907-909)tcG>tcT p.S303S GPHN_ENST00000543237.1_Silent_p.S283S|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Silent_p.S270S|GPHN_ENST00000459628.1_Silent_p.S285S|GPHN_ENST00000305960.9_Silent_p.S239S NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 270 Interaction with GABARAP (By similarity). Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) CTTCAGAATCGCCTCGTGCTC 0.498000 T MLL AL 74 73 4.14589e-37 7.44958e-37 1 1 0 NFATC2 4773 broad.mit.edu 37 20 50048686 50048686 + Silent SNP C C A rs146886244 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:50048686C>A ENST00000371564.3 - 9 2859 c.2640G>T c.(2638-2640)ccG>ccT p.P880P NFATC2_ENST00000396009.3_Silent_p.P880P|NFATC2_ENST00000414705.1_Silent_p.P860P NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 880 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGTCACTGACCGGGGGTCCGT 0.547000 52 33 3.76525e-18 5.68614e-18 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32525453 32525453 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr21:32525453C>A ENST00000286827.3 - 19 3643 c.e19-1 TIAM1_ENST00000541036.1_Splice_Site NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 AGTTTAAATCCTAAGAATTGA 0.318000 86 16 7.31121e-38 1.3185e-37 1 1 0 TAS2R41 259287 broad.mit.edu 37 7 143175616 143175616 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:143175616C>G ENST00000408916.1 + 1 651 c.651C>G c.(649-651)aaC>aaG p.N217K EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 217 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TGCAGCACAACGGGCACAGCC 0.478000 28 56 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7618870 7618870 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:7618870G>C ENST00000221249.6 + 22 2687 c.2256G>C c.(2254-2256)acG>acC p.T752T PNPLA6_ENST00000450331.3_Silent_p.T752T|PNPLA6_ENST00000600737.1_Silent_p.T790T|PNPLA6_ENST00000414982.3_Silent_p.T800T|PNPLA6_ENST00000545201.2_Silent_p.T725T NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 791 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 TGGCCTTCACGCTGGAGCTGC 0.632000 41 7 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196967416 196967416 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:196967416C>A ENST00000367414.5 + 7 1257 c.1201C>A c.(1201-1203)Cct>Act p.P401T CFHR5_ENST00000256785.4_Missense_Mutation_p.P377T NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 377 Sushi 7. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GAAATGGAATCCTGAAGTAGA 0.308000 18 19 1.78486e-19 2.74566e-19 1 1 0 SERPINB11 89778 broad.mit.edu 37 18 61377441 61377441 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:61377441G>T ENST00000544088.1 + 0 76 SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GGTTCTCTCAGCACAGCTAAC 0.393000 OREG0003822 type=REGULATORY REGION|Gene=SERPINB11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 2 3.09899e-07 3.74398e-07 1 1 0 DHX58 79132 broad.mit.edu 37 17 40257126 40257126 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:40257126G>T ENST00000251642.3 - 10 1533 c.1311C>A c.(1309-1311)gcC>gcA p.A437A NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 437 Helicase C-terminal. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCACACTCGTGGCCACCAGAA 0.557000 15 29 0.000219431 0.000243703 1 1 0 CUBN 8029 broad.mit.edu 37 10 17110259 17110259 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:17110259C>A ENST00000377833.4 - 21 2877 c.2812G>T c.(2812-2814)Gaa>Taa p.E938* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 938 CUB 5. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCTGTTGATTCTGTAAGAATT 0.383000 35 67 1.836e-18 2.78398e-18 1 1 0 SLC2A5 6518 broad.mit.edu 37 1 9107749 9107749 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:9107749G>A ENST00000377424.4 - 4 517 c.338C>T c.(337-339)gCg>gTg p.A113V SLC2A5_ENST00000536305.1_Missense_Mutation_p.A54V|SLC2A5_ENST00000535586.1_5'UTR|SLC2A5_ENST00000377414.3_Missense_Mutation_p.A113V NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 113 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity p.A113E(2) endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CATTAAGATCGCAGGCACGAT 0.403000 22 74 0 0 1 0 0 HRH3 11255 broad.mit.edu 37 20 60793575 60793575 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:60793575T>C ENST00000340177.5 - 2 673 c.389A>G c.(388-390)tAc>tGc p.Y130C HRH3_ENST00000317393.6_Missense_Mutation_p.Y130C NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 130 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) GAAGCGGTCGTAGCTGATGAG 0.652000 3 14 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58482886 58482886 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:58482886G>T ENST00000344743.3 - 3 233 c.92C>A c.(91-93)aCt>aAt p.T31N GLYAT_ENST00000529732.1_Missense_Mutation_p.T31N|GLYAT_ENST00000278400.3_Missense_Mutation_p.T31N NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 31 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GTGAAAGACAGTTCCATAAAC 0.383000 15 36 0.00244969 0.0026039 1 1 0 FGB 2244 broad.mit.edu 37 4 155487111 155487111 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:155487111C>A ENST00000302068.4 + 2 329 c.266C>A c.(265-267)gCc>gAc p.A89D FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 89 Missing (in New York-1). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GAAAGAAAAGCCCCTGATGCT 0.577000 19 25 9.7654e-05 0.000108944 1 1 0 IGKV5-2 28907 broad.mit.edu 37 2 89196826 89196826 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:89196826C>A ENST00000390244.2 + 0 79 GTCCCAGGTTCACCTCCTCAG 0.463000 3 16 6.4e-05 7.18467e-05 1 1 0 DLX2 1746 broad.mit.edu 37 2 172965286 172965286 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:172965286C>T ENST00000234198.4 - 3 1333 c.972G>A c.(970-972)gcG>gcA p.A324A DLX2_ENST00000466293.2_3'UTR NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 324 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) AAATCGTCCCCGCGCTCACCG 0.682000 19 24 0 0 1 0 0 ECM1 1893 broad.mit.edu 37 1 150484274 150484274 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:150484274C>T ENST00000369047.4 + 7 1175 c.1050C>T c.(1048-1050)cgC>cgT p.R350R ECM1_ENST00000346569.6_Intron|ECM1_ENST00000369049.4_Silent_p.R377R|ECM1_ENST00000470432.1_3'UTR NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 350 2 X approximate repeats. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCTGCTGCCGCCAGGGGAACA 0.617000 15 62 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466862 56466862 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:56466862G>T ENST00000291971.3 + 3 1509 c.1438G>T c.(1438-1440)Gat>Tat p.D480Y NLRP8_ENST00000590542.1_Missense_Mutation_p.D480Y NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 480 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGCCAAGCTGGATCAGACGGG 0.502000 126 32 6.25824e-51 1.16978e-50 1 1 0 TUB 7275 broad.mit.edu 37 11 8117131 8117131 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:8117131G>T ENST00000305253.4 + 6 890 c.649G>T c.(649-651)Gcc>Tcc p.A217S TUB_ENST00000534099.1_Missense_Mutation_p.A168S|TUB_ENST00000299506.2_Missense_Mutation_p.A162S NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 162 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) GTCAGACCACGCCCAGGACGC 0.682000 4 11 0.00909568 0.00946511 1 1 0 DNAH3 55567 broad.mit.edu 37 16 20955856 20955856 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr16:20955856G>T ENST00000261383.3 - 58 11472 c.11473C>A c.(11473-11475)Ctc>Atc p.L3825I DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3825 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGTCTAGGGAGGGTCAGCAGG 0.562000 23 28 3.5997e-14 5.0751e-14 1 1 0 TRIML1 339976 broad.mit.edu 37 4 189063588 189063588 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:189063588C>G ENST00000332517.3 + 3 827 c.687C>G c.(685-687)atC>atG p.I229M RP11-366H4.3_ENST00000501322.2_RNA NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 229 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GCAAAATGATCGCACAGATTG 0.403000 39 42 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91843634 91843634 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:91843634G>C ENST00000370425.3 - 11 1441 c.1343C>G c.(1342-1344)gCt>gGt p.A448G HFM1_ENST00000370424.3_Missense_Mutation_p.A127G|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 448 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CATTGGAATAGCAGTGCTGGT 0.353000 16 56 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209368 140209368 + Silent SNP G G T rs143264790 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140209368G>T ENST00000529310.1 + 1 1806 c.1692G>T c.(1690-1692)gcG>gcT p.A564A PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCGCCGGCGCTGCTGGCGC 0.692000 13 63 2.31682e-05 2.62408e-05 1 1 0 IDO1 3620 broad.mit.edu 37 8 39785377 39785377 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:39785377G>T ENST00000518237.1 + 10 1524 c.885G>T c.(883-885)atG>atT p.M295I RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.M295I NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 295 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) TCCAGGACATGAGAAGATATA 0.483000 5 4 0.000602214 0.000653205 1 1 0 TCHHL1 126637 broad.mit.edu 37 1 152057969 152057969 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:152057969G>C ENST00000368806.1 - 3 2253 c.2189C>G c.(2188-2190)gCc>gGc p.A730G NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 730 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTTGAGGGAGGCTGAATTGTC 0.443000 60 159 0 0 1 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953623 8953623 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:8953623C>A ENST00000595891.1 + 3 500 c.269C>A c.(268-270)gCc>gAc p.A90D MBD3L1_ENST00000305625.2_Missense_Mutation_p.A90D Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 1 90 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 TTGGATCTTGCCAATACCTTG 0.552000 53 17 9.57592e-29 1.64697e-28 1 1 0 C8orf22 492307 broad.mit.edu 37 8 49986616 49986616 + Splice_Site SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:49986616A>T ENST00000303202.8 + 3 228 c.e3-1 C8orf22_ENST00000517663.1_Splice_Site|C8orf22_ENST00000399653.4_Splice_Site|C8orf22_ENST00000522267.1_Splice_Site NM_001256598.1 NP_001243527.1 Q8WWR9 PDPFL_HUMAN chromosome 8 open reading frame 22 large_intestine(1)|lung(7)|prostate(1) 9 all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TGTTTCCTACAGAGTCCAGTG 0.343000 27 19 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120181630 120181630 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:120181630G>T ENST00000328078.1 + 1 169 c.92G>T c.(91-93)gGc>gTc p.G31V NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 31 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) GCGTTGCTGGGCCGGGGCCGC 0.781000 8 0 0.000442599 0.00048325 1 1 0 USH2A 7399 broad.mit.edu 37 1 216498790 216498790 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:216498790G>T ENST00000366943.2 - 6 1386 c.1000C>A c.(1000-1002)Cgg>Agg p.R334R USH2A_ENST00000307340.3_Silent_p.R334R|USH2A_ENST00000366942.3_Silent_p.R334R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 334 Laminin N-terminal. R -> Q (in USH2A).|R -> W (in USH2A). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGATTCAACCGTGACACTCTA 0.468000 HNSCC(13;0.011) 44 38 6.68952e-21 1.05415e-20 1 1 0 APOB 338 broad.mit.edu 37 2 21232392 21232392 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:21232392G>C ENST00000233242.1 - 26 7475 c.7348C>G c.(7348-7350)Ctc>Gtc p.L2450V NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2450 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCACCATTGAGTCTCTGAGTC 0.378000 53 67 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120848001 120848001 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:120848001G>T ENST00000263713.5 + 12 1166 c.952G>T c.(952-954)Gag>Tag p.E318* EPB41L5_ENST00000331393.4_Nonsense_Mutation_p.E318*|EPB41L5_ENST00000443902.2_Nonsense_Mutation_p.E318*|EPB41L5_ENST00000443124.1_Nonsense_Mutation_p.E318*|EPB41L5_ENST00000452780.1_Nonsense_Mutation_p.E318* NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 318 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 ATGTGCTGTGGAGCATCATGC 0.383000 53 15 1.07234e-20 1.68625e-20 1 1 0 RASEF 158158 broad.mit.edu 37 9 85615105 85615105 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:85615105C>A ENST00000376447.3 - 12 1962 c.1702G>T c.(1702-1704)Gaa>Taa p.E568* NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 568 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CTTATATTTTCTCGAAATTCA 0.428000 29 57 7.63215e-27 1.29173e-26 1 1 0 PRKDC 5591 broad.mit.edu 37 8 48845668 48845668 + Nonsense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:48845668A>T ENST00000314191.2 - 16 1744 c.1688T>A c.(1687-1689)tTa>tAa p.L563* PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.L563* NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 563 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATCATAAAGTAAATGATTCAG 0.294000 Non-homologous end-joining 9 7 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57974760 57974760 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:57974760C>A ENST00000455537.2 + 24 2834 c.2560C>A c.(2560-2562)Ctg>Atg p.L854M KIF5A_ENST00000286452.5_Missense_Mutation_p.L765M NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 854 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CAATGCAGATCTGCGTTGTGA 0.552000 8 22 0.00307968 0.00325723 1 1 0 CCDC120 90060 broad.mit.edu 37 X 48921477 48921477 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:48921477G>T ENST00000376396.3 + 5 488 c.269G>T c.(268-270)cGc>cTc p.R90L CCDC120_ENST00000422185.2_Missense_Mutation_p.R90L|CCDC120_ENST00000496529.2_Missense_Mutation_p.R90L|CCDC120_ENST00000536628.2_Missense_Mutation_p.R78L|CCDC120_ENST00000603986.1_Missense_Mutation_p.R125L|CCDC120_ENST00000597275.1_Missense_Mutation_p.R90L NM_001271835.1|NM_001271836.1|NM_033626.2 NP_001258764.1|NP_001258765.1|NP_296375.1 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 90 protein binding breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 CCCACAGCCCGCGCCTACCCT 0.682000 7 3 0.00307968 0.00325723 1 1 0 DFNA5 1687 broad.mit.edu 37 7 24749964 24749964 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:24749964C>G ENST00000545231.1 - 8 1399 c.249G>C c.(247-249)aaG>aaC p.K83N DFNA5_ENST00000409775.3_Missense_Mutation_p.K247N|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Missense_Mutation_p.K83N|DFNA5_ENST00000419307.1_Missense_Mutation_p.K83N|DFNA5_ENST00000342947.3_Missense_Mutation_p.K247N O60443 DFNA5_HUMAN deafness, autosomal dominant 5 247 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 CAATTCTCTTCTTGTTCTCGA 0.493000 53 79 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25948960 25948960 + Nonstop_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:25948960A>T ENST00000398988.3 + 22 2733 c.2288A>T c.(2287-2289)tAg>tTg p.*763L KSR1_ENST00000319524.6_Intron|KSR1_ENST00000582410.1_Nonstop_Mutation_p.*114L|KSR1_ENST00000578981.1_Intron|KSR1_ENST00000268763.6_Intron NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 0 Protein kinase. Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TGTAGGTTGTAGGCCTGGCTG 0.517000 14 13 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3438938 3438938 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:3438938C>G ENST00000301365.4 - 7 844 c.713G>C c.(712-714)gGc>gCc p.G238A TRPV3_ENST00000572519.1_Missense_Mutation_p.G238A|TRPV3_ENST00000576742.1_Missense_Mutation_p.G238A Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 238 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) GACGTCGGCGCCGGCGGCGAT 0.716000 4 3 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64335178 64335178 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:64335178G>T ENST00000301891.4 + 7 1540 c.1166G>T c.(1165-1167)cGg>cTg p.R389L SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.R389L NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 389 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) TTCCTGGGCCGGGCCACCACT 0.642000 13 36 7.03913e-09 8.87958e-09 1 1 0 AAK1 22848 broad.mit.edu 37 2 69784100 69784100 + Silent SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:69784100A>T ENST00000409085.4 - 3 550 c.174T>A c.(172-174)gcT>gcA p.A58A AAK1_ENST00000406297.3_Silent_p.A58A|AAK1_ENST00000409068.1_Silent_p.A58A NM_014911.3 NP_055726.3 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 58 Protein kinase. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 GAAATACAATAGCAAATCCAC 0.448000 6 21 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57372298 57372298 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:57372298G>T ENST00000607273.1 + 8 791 c.704G>T c.(703-705)aGg>aTg p.R235M PRIM2_ENST00000389488.2_3'UTR NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) 235 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TTAACAGCCAGGTCCTTGCCT 0.418000 7 53 2.7689e-08 3.45183e-08 1 1 0 CD244 51744 broad.mit.edu 37 1 160808277 160808277 + Nonsense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:160808277G>C ENST00000368034.4 - 5 975 c.798C>G c.(796-798)taC>taG p.Y266* CD244_ENST00000368033.3_Nonsense_Mutation_p.Y271*|CD244_ENST00000322302.7_Nonsense_Mutation_p.Y174*|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368032.2_Nonsense_Mutation_p.Y266* NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 271 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGACATCTTCGTAAATTGTCA 0.468000 11 95 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39034459 39034459 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:39034459T>C ENST00000167588.3 - 6 1118 c.1077A>G c.(1075-1077)atA>atG p.I359M NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 359 Coil 2.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) GTCGAGTCTTTATGTCAAGAA 0.463000 82 109 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52163108 52163108 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:52163108G>A ENST00000354534.5 + 17 3539 c.3361G>A c.(3361-3363)Ggc>Agc p.G1121S SCN8A_ENST00000545061.1_Missense_Mutation_p.G1121S NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1121 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GGATCCTGAAGGCAGCAAAGA 0.527000 10 28 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27465740 27465740 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:27465740G>T ENST00000264705.4 + 42 6541 c.6378_splice c.e42-1 p.E2127_splice CAD_ENST00000403525.1_Splice_Site_p.E2064_splice NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 2127 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CACCCTCCAGGAGGAATTCGA 0.582000 13 18 0.00136819 0.00146269 1 1 0 SH3GL3 6457 broad.mit.edu 37 15 84237416 84237416 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:84237416C>A ENST00000324537.5 + 7 839 c.347C>A c.(346-348)tCc>tAc p.S116Y SH3GL3_ENST00000434347.1_Missense_Mutation_p.S116Y|SH3GL3_ENST00000427482.2_Missense_Mutation_p.S108Y|SH3GL3_ENST00000535412.1_Missense_Mutation_p.S108Y Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 108 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 GGGGAAGACTCCACCTTTGGT 0.512000 36 19 6.90743e-12 9.32283e-12 1 1 0 ATR 545 broad.mit.edu 37 3 142281470 142281470 + Silent SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:142281470A>C ENST00000350721.4 - 4 895 c.774T>G c.(772-774)ctT>ctG p.L258L ATR_ENST00000383101.3_Silent_p.L258L NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 258 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GTAGTCCTCCAAGCTGAAAAA 0.363000 Other conserved DNA damage response genes 10 70 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181221 140181221 + Nonsense_Mutation SNP C C T rs139627437 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140181221C>T ENST00000522353.2 + 1 439 c.439C>T c.(439-441)Cag>Tag p.Q147* PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.Q147*|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAATCCCGACAGCCTGGCTC 0.448000 16 78 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53010074 53010074 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:53010074C>T ENST00000305748.3 - 2 572 c.538G>A c.(538-540)Gag>Aag p.E180K NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 180 Linker 1.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) AGGATGGGCTCCAGGTTATTC 0.607000 46 80 0 0 1 0 0 CTPS1 1503 broad.mit.edu 37 1 41450645 41450645 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:41450645T>A ENST00000372621.4 + 3 827 c.319T>A c.(319-321)Ttg>Atg p.L107M CTPS1_ENST00000543104.1_Missense_Mutation_p.L114M|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000372616.1_Missense_Mutation_p.L107M NM_001905.2 NP_001896.2 P17812 PYRG1_HUMAN CTP synthase 1 107 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding endometrium(3)|lung(10) 13 L-Glutamine(DB00130) AGGAGATTACTTGGGGAAAAC 0.408000 37 54 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109692000 109692000 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:109692000A>T ENST00000277225.5 + 3 6096 c.5807A>T c.(5806-5808)aAa>aTa p.K1936I ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.K1936I|ZNF462_ENST00000441147.2_Missense_Mutation_p.K781I Q96JM2 ZN462_HUMAN zinc finger protein 462 1936 K -> E (in Ref. 4; AK027866). transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AGCAAGCAGAAATATGCAGAT 0.483000 33 26 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20156408 20156408 + Nonsense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:20156408C>T ENST00000263754.4 + 7 1533 c.1078C>T c.(1078-1080)Caa>Taa p.Q360* NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 360 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 AGTATATAGTCAAAACTCTCC 0.378000 31 10 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68720479 68720479 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:68720479C>A ENST00000303145.7 - 3 542 c.456G>T c.(454-456)ctG>ctT p.L152L MDM1_ENST00000430606.2_Silent_p.L152L|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000411698.2_Silent_p.L152L|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000545724.1_5'UTR NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 152 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) TAGAATGTTCCAGTTCCACAT 0.393000 40 35 1.04594e-18 1.59412e-18 1 1 0 PAX3 5077 broad.mit.edu 37 2 223066886 223066886 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:223066886G>T ENST00000350526.4 - 8 1333 c.1197C>A c.(1195-1197)caC>caA p.H399Q PAX3_ENST00000409551.3_Missense_Mutation_p.H398Q|PAX3_ENST00000392069.2_Missense_Mutation_p.H399Q|PAX3_ENST00000392070.2_Missense_Mutation_p.H399Q|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000344493.4_Intron NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 399 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTACCCCACCGTGGTTGGTCA 0.537000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 6 4 3.59834e-05 4.06317e-05 1 1 0 CD5L 922 broad.mit.edu 37 1 157803200 157803200 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:157803200C>T ENST00000368174.4 - 5 917 c.821G>A c.(820-822)gGa>gAa p.G274E NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 274 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTCCTTTTCTCCCCAGTTGTC 0.582000 18 119 0 0 1 0 0 LNX2 222484 broad.mit.edu 37 13 28155640 28155640 + Silent SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:28155640A>G ENST00000316334.3 - 2 330 c.201T>C c.(199-201)caT>caC p.H67H NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 67 zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) AGCAGAATGTATGTCCACAGG 0.413000 49 20 0 0 1 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840534 1840534 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:1840534C>A ENST00000331238.5 - 2 600 c.582G>T c.(580-582)cgG>cgT p.R194R NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 194 axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 TCACCAGGCCCCGGAAGGTGC 0.622000 20 7 2.39187e-15 3.43943e-15 1 1 0 PIDD 55367 broad.mit.edu 37 11 800236 800236 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:800236G>T ENST00000347755.5 - 14 2310 c.2169C>A c.(2167-2169)ttC>ttA p.F723L PIDD_ENST00000411829.2_Missense_Mutation_p.F706L NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 723 apoptosis|signal transduction cytoplasm|nucleus death receptor binding CGCCACGGTAGAAGGACACCT 0.697000 4 26 0.00909568 0.00946511 1 1 0 CACNA1C 775 broad.mit.edu 37 12 2224442 2224442 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:2224442G>T ENST00000399655.1 + 2 367 c.102G>T c.(100-102)gcG>gcT p.A34A CACNA1C_ENST00000399641.1_Silent_p.A34A|CACNA1C_ENST00000399621.1_Silent_p.A34A|CACNA1C_ENST00000399597.1_Silent_p.A34A|CACNA1C_ENST00000399591.1_Silent_p.A34A|CACNA1C_ENST00000402845.3_Silent_p.A34A|CACNA1C_ENST00000406454.3_Silent_p.A34A|CACNA1C_ENST00000399638.1_Silent_p.A34A|CACNA1C_ENST00000399637.1_Silent_p.A34A|CACNA1C_ENST00000335762.5_Silent_p.A34A|CACNA1C_ENST00000399617.1_Silent_p.A34A|CACNA1C_ENST00000347598.4_Silent_p.A34A|CACNA1C_ENST00000399649.1_Silent_p.A34A|CACNA1C_ENST00000480911.1_Silent_p.A34A|CACNA1C_ENST00000399603.1_Silent_p.A34A|CACNA1C_ENST00000399634.1_Silent_p.A34A|CACNA1C_ENST00000399644.1_Silent_p.A34A|CACNA1C_ENST00000399601.1_Silent_p.A34A|CACNA1C_ENST00000327702.7_Silent_p.A34A|CACNA1C_ENST00000399595.1_Silent_p.A34A|CACNA1C_ENST00000399629.1_Silent_p.A34A|CACNA1C_ENST00000399606.1_Silent_p.A34A|CACNA1C_ENST00000344100.3_Silent_p.A34A NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 34 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ATGCCAATGCGGCAGCGGGGC 0.622000 7 0 0.00198382 0.0021102 1 1 0 ABCC8 6833 broad.mit.edu 37 11 17483152 17483152 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:17483152C>T ENST00000302539.4 - 5 925 c.800G>A c.(799-801)tGc>tAc p.C267Y ABCC8_ENST00000389817.3_Missense_Mutation_p.C267Y NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 267 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AAAGGCCTCGCAGAGCCGTTG 0.582000 36 49 0 0 1 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106405825 106405825 + RNA SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:106405825G>T ENST00000390593.2 - 0 200 ACTGTTGCTAGAGACACTGTC 0.557000 29 96 7.38237e-10 9.52274e-10 1 1 0 DYSF 8291 broad.mit.edu 37 2 71886041 71886041 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:71886041C>A ENST00000258104.3 + 43 4949 c.4672C>A c.(4672-4674)Cca>Aca p.P1558T DYSF_ENST00000410041.1_Missense_Mutation_p.P1576T|DYSF_ENST00000394120.2_Missense_Mutation_p.P1559T|DYSF_ENST00000429174.2_Missense_Mutation_p.P1579T|DYSF_ENST00000410020.3_Missense_Mutation_p.P1597T|DYSF_ENST00000413539.2_Missense_Mutation_p.P1589T|DYSF_ENST00000409744.1_Missense_Mutation_p.P1566T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.P1590T|DYSF_ENST00000409366.1_Missense_Mutation_p.P1580T|DYSF_ENST00000409582.3_Missense_Mutation_p.P1596T|DYSF_ENST00000409762.1_Missense_Mutation_p.P1575T NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1558 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CCCAGAAGACCCAGCCATCCC 0.512000 42 65 3.66854e-30 6.38344e-30 1 1 0 GALR1 2587 broad.mit.edu 37 18 74962540 74962540 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:74962540C>T ENST00000299727.3 + 1 36 c.36C>T c.(34-36)aaC>aaT p.N12N NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 12 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GCGAGGGCAACGCGAGCTGGC 0.756000 3 1 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27291057 27291057 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:27291057C>T ENST00000397501.1 + 16 1901 c.1093C>T c.(1093-1095)Cat>Tat p.H365Y PTK2B_ENST00000420218.2_Missense_Mutation_p.H365Y|PTK2B_ENST00000346049.5_Missense_Mutation_p.H365Y|PTK2B_ENST00000338238.4_Missense_Mutation_p.H365Y|PTK2B_ENST00000544172.1_Missense_Mutation_p.H365Y|PTK2B_ENST00000397497.4_Missense_Mutation_p.H111Y|PTK2B_ENST00000517339.1_Missense_Mutation_p.H365Y NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 365 apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TCTCATCATCCATCCTAGGAA 0.567000 4 22 0 0 1 0 0 NFIB 4781 broad.mit.edu 37 9 14307214 14307214 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:14307214C>A ENST00000380959.3 - 2 809 c.336G>T c.(334-336)aaG>aaT p.K112N NFIB_ENST00000397575.3_Missense_Mutation_p.K112N|NFIB_ENST00000397581.2_Missense_Mutation_p.K112N|NFIB_ENST00000380934.4_Missense_Mutation_p.K138N|NFIB_ENST00000397579.2_Missense_Mutation_p.K112N|NFIB_ENST00000380921.3_Missense_Mutation_p.K112N|NFIB_ENST00000380953.1_Missense_Mutation_p.K112N NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 112 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) TAATCTTACCCTTCTGGTCGG 0.512000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 8 69 0.00307968 0.00325723 1 1 0 WBP11P1 441818 broad.mit.edu 37 18 30092564 30092564 + RNA SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr18:30092564C>T ENST00000567636.1 + 0 939 NR_003558.1 GTTTTTAGCACCAGTGAAGAT 0.488000 87 56 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73567652 73567652 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:73567652C>A ENST00000224721.6 + 59 8630 c.8625C>A c.(8623-8625)gcC>gcA p.A2875A CDH23_ENST00000398788.3_Silent_p.A630A|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2870 Cadherin 27. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 AGGTGCTGGCCCTGGATGCAG 0.612000 9 8 4.68919e-08 5.78268e-08 1 1 0 YARS 8565 broad.mit.edu 37 1 33276518 33276518 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:33276518C>T ENST00000373477.4 - 2 1106 c.198G>A c.(196-198)ggG>ggA p.G66G NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 66 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TTACCTCACACCCTGCCTTTA 0.502000 45 244 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55035827 55035827 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:55035827C>A ENST00000417545.2 + 4 643 c.555_splice c.e4-1 p.A186_splice NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 170 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TTTTTACAGGCTTTTGGAGAC 0.343000 15 51 7.93312e-07 9.41583e-07 1 1 0 PLA2R1 22925 broad.mit.edu 37 2 160901606 160901606 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:160901606C>A ENST00000283243.7 - 2 378 c.172G>T c.(172-174)Gtt>Ttt p.V58F PLA2R1_ENST00000392771.1_Missense_Mutation_p.V58F NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 58 Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 AGGGTCAGAACCGATTTACCT 0.413000 21 38 2.4624e-09 3.14088e-09 1 1 0 UGGT2 55757 broad.mit.edu 37 13 96592221 96592221 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:96592221T>A ENST00000376747.3 - 16 1872 c.1802A>T c.(1801-1803)gAa>gTa p.E601V NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 601 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 CTTTCTTTCTTCATCATATTT 0.343000 18 11 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94772555 94772555 + Splice_Site SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:94772555G>C ENST00000341584.3 - 4 1031 c.884_splice c.e4-1 p.S295_splice NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 295 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GGTCCACCTGGCTGCTCGGGG 0.552000 5 70 0 0 1 0 0 PLA2G1B 5319 broad.mit.edu 37 12 120760004 120760004 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:120760004G>T ENST00000308366.4 - 4 474 c.439C>A c.(439-441)Cag>Aag p.Q147K PLA2G1B_ENST00000423423.3_3'UTR|PLA2G1B_ENST00000549767.1_Missense_Mutation_p.Q118K NM_000928.2 NP_000919.1 P04054 PA21B_HUMAN phospholipase A2, group IB (pancreas) 147 actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter extracellular space bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding endometrium(1)|large_intestine(1)|lung(3)|skin(2) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATTCAACTCTGACAATACTTC 0.443000 123 148 1.14919e-56 2.16439e-56 1 1 0 SLAMF1 6504 broad.mit.edu 37 1 160604558 160604558 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:160604558G>T ENST00000302035.6 - 3 894 c.545C>A c.(544-546)aCc>aAc p.T182N SLAMF1_ENST00000355199.3_Missense_Mutation_p.T182N|SLAMF1_ENST00000235739.5_Missense_Mutation_p.T182N|SLAMF1_ENST00000538290.1_Missense_Mutation_p.T182N NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 182 Ig-like C2-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CAGTGGGTGGGTGCCCGCCTT 0.582000 32 65 4.4194e-11 5.85837e-11 1 1 0 GJA8 2703 broad.mit.edu 37 1 147380931 147380931 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:147380931G>T ENST00000240986.4 + 2 902 c.849G>T c.(847-849)gaG>gaT p.E283D GJA8_ENST00000369235.1_Missense_Mutation_p.E283D NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 283 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCTTGACCGAGGTTGGGATGG 0.552000 35 53 7.11191e-15 1.01326e-14 1 1 0 PGAM4 441531 broad.mit.edu 37 X 77224683 77224683 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:77224683G>T ENST00000458128.1 - 1 452 c.453C>A c.(451-453)ccC>ccA p.P151P ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 151 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 TCTCATAGGAGGGTAGCTGAT 0.507000 37 14 1.60099e-16 2.35318e-16 1 1 0 ZNF804A 91752 broad.mit.edu 37 2 185803418 185803418 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:185803418C>A ENST00000302277.6 + 4 3889 c.3295C>A c.(3295-3297)Cat>Aat p.H1099N NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1099 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AACCACTATCCATCACACTGT 0.532000 55 65 4.17463e-26 7.0096e-26 1 1 0 ZNF70 7621 broad.mit.edu 37 22 24086000 24086000 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:24086000C>A ENST00000341976.3 - 2 1788 c.1328G>T c.(1327-1329)gGg>gTg p.G443V NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 443 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TAGCTTCTCCCCAGAATGAAT 0.537000 19 172 3.99206e-14 5.60699e-14 1 1 0 NKX3-1 4824 broad.mit.edu 37 8 23538998 23538998 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:23538998C>A ENST00000380871.4 - 2 478 c.441G>T c.(439-441)aaG>aaT p.K147N NKX3-1_ENST00000523261.1_Missense_Mutation_p.K72N NM_006167.3 NP_006158.2 Q99801 NKX31_HUMAN NK3 homeobox 1 147 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding large_intestine(3)|lung(4)|prostate(5)|skin(2) 14 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) CCGACAGGTACTTCTGATGGC 0.567000 38 101 2.09667e-21 3.32513e-21 1 1 0 OR2F1 26211 broad.mit.edu 37 7 143657821 143657821 + Missense_Mutation SNP G G T rs143396389 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:143657821G>T ENST00000392899.1 + 1 795 c.758G>T c.(757-759)gGt>gTt p.G253V NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CTGTGCTATGGTGTGGCCATT 0.483000 54 59 6.3008e-33 1.1173e-32 1 1 0 PCDHA10 56139 broad.mit.edu 37 5 140237120 140237120 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140237120G>A ENST00000307360.5 + 1 1487 c.1487G>A c.(1486-1488)cGg>cAg p.R496Q PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R496Q|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGGAGCGGCGGTTGGGC 0.672000 13 92 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33649049 33649049 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:33649049C>A ENST00000504830.1 - 9 1692 c.1357G>T c.(1357-1359)Gat>Tat p.D453Y ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D453Y NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 453 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGTATGTCATCAAGACAGAAC 0.453000 HNSCC(64;0.19) 36 50 3.33393e-15 4.77286e-15 1 1 0 PEX5L 51555 broad.mit.edu 37 3 179592153 179592153 + Nonsense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:179592153C>A ENST00000467460.1 - 7 1018 c.688G>T c.(688-690)Gag>Tag p.E230* PEX5L_ENST00000485199.1_Nonsense_Mutation_p.E195*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.E187*|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.E171*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.E38*|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Nonsense_Mutation_p.E206*|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.E122*|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.E122*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.E228* NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 230 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GAAGCCGACTCAGAGTTGAGG 0.403000 29 29 1.08312e-15 1.56568e-15 1 1 0 C10orf2 56652 broad.mit.edu 37 10 102750198 102750198 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:102750198T>A ENST00000370228.1 + 3 1675 c.1490T>A c.(1489-1491)gTa>gAa p.V497E C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000311916.2_Missense_Mutation_p.V497E NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 497 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) CCCAGGACTGTAATAGATACA 0.478000 43 66 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183920140 183920140 + Splice_Site SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:183920140C>A ENST00000361927.4 - 8 1508 c.e8+1 COLGALT2_ENST00000546159.1_Splice_Site|COLGALT2_ENST00000367520.3_Splice_Site NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 ACCCAACTCACTTTCCATCCA 0.507000 72 110 9.12251e-31 1.59296e-30 1 1 0 DAAM1 23002 broad.mit.edu 37 14 59797978 59797978 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:59797978G>T ENST00000395125.1 + 13 1635 c.1612G>T c.(1612-1614)Ggg>Tgg p.G538W DAAM1_ENST00000360909.3_Missense_Mutation_p.G538W|DAAM1_ENST00000351081.1_Missense_Mutation_p.G538W NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 538 FH1.|Pro-rich. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) AGCACCAGGAGGGCCCTTTCC 0.567000 18 127 8.34094e-07 9.88408e-07 1 1 0 A2M 2 broad.mit.edu 37 12 9231860 9231860 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:9231860G>T ENST00000318602.7 - 25 3406 c.3099C>A c.(3097-3099)ggC>ggA p.G1033G A2M_ENST00000542567.1_5'UTR NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 1033 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) CCTGGTTCCTGCCATATCGCT 0.423000 25 10 9.86323e-18 1.47601e-17 1 1 0 ARHGEF37 389337 broad.mit.edu 37 5 148989227 148989227 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:148989227C>A ENST00000333677.6 + 4 590 c.427C>A c.(427-429)Cgg>Agg p.R143R NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 143 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 GGAGCTGCAGCGGCACATCCA 0.587000 45 12 1.30916e-28 2.24644e-28 1 1 0 MYO19 80179 broad.mit.edu 37 17 34862945 34862945 + Nonsense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:34862945G>A ENST00000431794.3 - 17 2023 c.1501C>T c.(1501-1503)Cag>Tag p.Q501* MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 501 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GTCTGGAGCTGGGCTGCGCTG 0.622000 16 29 0 0 1 0 0 MS4A3 932 broad.mit.edu 37 11 59834551 59834551 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:59834551C>A ENST00000278865.3 + 5 552 c.479C>A c.(478-480)cCg>cAg p.P160Q MS4A3_ENST00000534744.1_Missense_Mutation_p.P114Q|MS4A3_ENST00000358152.2_Missense_Mutation_p.P114Q|MS4A3_ENST00000395032.2_Missense_Mutation_p.P37Q NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 160 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity p.P160L(1) endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) TCAGAGTCACCGGACCTATGC 0.358000 6 14 0.0293803 0.030214 1 1 0 RTCB 51493 broad.mit.edu 37 22 32792121 32792121 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr22:32792121C>A ENST00000216038.5 - 8 1028 c.930G>T c.(928-930)atG>atT p.M310I RTCB_ENST00000451746.2_Intron NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase CAGCAGCTGCCATTCCCTTCA 0.498000 115 50 2.85792e-54 5.36898e-54 1 1 0 FLG 2312 broad.mit.edu 37 1 152278994 152278994 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:152278994G>T ENST00000368799.1 - 3 8403 c.8368C>A c.(8368-8370)Ccg>Acg p.P2790T FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2790 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTGACCCCGGGTGTCCACGA 0.602000 Ichthyosis 128 463 1.03292e-53 1.93803e-53 1 1 0 WBSCR17 64409 broad.mit.edu 37 7 71130416 71130416 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:71130416C>A ENST00000333538.5 + 7 1735 c.1101C>A c.(1099-1101)agC>agA p.S367R WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 367 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GTGGGGGCAGCATGGAGGTCC 0.517000 54 23 7.89702e-26 1.32151e-25 1 1 0 C3orf72 401089 broad.mit.edu 37 3 138669285 138669285 + Silent SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:138669285G>C ENST00000383165.3 + 3 530 c.399G>C c.(397-399)gcG>gcC p.A133A NM_001040061.2 NP_001035150.1 Q6ZUU3 CC072_HUMAN chromosome 3 open reading frame 72 133 large_intestine(1)|lung(3) 4 CTTTCCTAGCGGGACCCCGAA 0.667000 17 38 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36227600 36227600 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:36227600C>T ENST00000420124.1 + 31 7169 c.7169C>T c.(7168-7170)tCg>tTg p.S2390L KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.S2390L p.S2392L(1) GGTGAGGCTTCGAGCTCTGAG 0.587000 7 35 0 0 1 0 0 MFAP3L 9848 broad.mit.edu 37 4 170912915 170912915 + Missense_Mutation SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:170912915C>T ENST00000361618.3 - 3 1151 c.844G>A c.(844-846)Gac>Aac p.D282N MFAP3L_ENST00000393704.3_Missense_Mutation_p.D179N|RP11-6E9.4_ENST00000508955.1_RNA NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 282 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TCATCCCTGTCTGCGGCCTCC 0.582000 26 47 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37342741 37342741 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:37342741C>A ENST00000231498.3 - 10 1206 c.1003G>T c.(1003-1005)Gat>Tat p.D335Y NUP155_ENST00000513532.1_Missense_Mutation_p.D335Y|NUP155_ENST00000381843.2_Missense_Mutation_p.D276Y NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 335 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACAGAACGATCGATGGTCCTA 0.318000 23 31 1.10513e-12 1.51218e-12 1 1 0 TMPRSS11B 132724 broad.mit.edu 37 4 69093777 69093777 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr4:69093777C>A ENST00000332644.5 - 10 1264 c.1103G>T c.(1102-1104)gGa>gTa p.G368V NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 368 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 AGCTAGTGGTCCACCAGAATC 0.393000 6 13 0.0215528 0.022195 1 1 0 ZNF536 9745 broad.mit.edu 37 19 31038993 31038993 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:31038993G>A ENST00000355537.3 + 4 2614 c.2467G>A c.(2467-2469)Gat>Aat p.D823N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 823 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGACCACAAGGATGAGATGTC 0.567000 73 76 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086668 56086668 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:56086668G>T ENST00000312711.1 + 1 886 c.886G>T c.(886-888)Gta>Tta p.V296L NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) AAACAAAGATGTAAAATATGC 0.328000 15 19 6.31663e-08 7.76386e-08 1 1 0 WBP2 23558 broad.mit.edu 37 17 73851356 73851356 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:73851356G>A ENST00000591399.1 - 2 447 c.23C>T c.(22-24)tCg>tTg p.S8L WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000433525.2_Missense_Mutation_p.S8L|WBP2_ENST00000590221.1_Missense_Mutation_p.S8L|WBP2_ENST00000344296.4_5'UTR|WBP2_ENST00000585462.1_5'UTR|WBP2_ENST00000254806.3_Missense_Mutation_p.S8L Q969T9 WBP2_HUMAN WW domain binding protein 2 8 GRAM. protein binding p.S8*(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCGCCCTCCGAGTGATTCTT 0.592000 50 148 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38573529 38573529 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:38573529G>A ENST00000222345.6 + 3 1833 c.1324G>A c.(1324-1326)Gtg>Atg p.V442M NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 442 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGAGCGCAACGTGAGCTTCTC 0.672000 38 67 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2384237 2384237 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr20:2384237G>T ENST00000202625.2 + 9 1165 c.1104G>T c.(1102-1104)cgG>cgT p.R368R TGM6_ENST00000381423.1_Silent_p.R368R NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 368 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GTGTGTTCCGGTGCGGCCCAG 0.612000 39 41 1.22674e-20 1.927e-20 1 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121652131 121652131 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:121652131G>T ENST00000393386.2 + 12 3442 c.3031G>T c.(3031-3033)Gat>Tat p.D1011Y PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1011 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ACCTGACACAGATGGGCTGAC 0.433000 73 69 4.38816e-42 8.05039e-42 1 1 0 C12orf42 374470 broad.mit.edu 37 12 103699818 103699818 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr12:103699818C>A ENST00000548048.1 - 8 860 c.364G>T c.(364-366)Ggc>Tgc p.G122C C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Missense_Mutation_p.G189C|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.G189C Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 189 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 ATGTGTATGCCCTGAGCCTCC 0.468000 74 72 1.94393e-27 3.30136e-27 1 1 0 SCARF1 8578 broad.mit.edu 37 17 1548987 1548987 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:1548987C>A ENST00000263071.4 - 1 54 c.5G>T c.(4-6)gGg>gTg p.G2V SCARF1_ENST00000571272.1_Missense_Mutation_p.G2V|SCARF1_ENST00000348987.3_Missense_Mutation_p.G2V NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 2 cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CAGCCCCAGCCCCATGGCAGG 0.682000 5 1 0.014758 0.0152718 1 1 0 BCORL1 63035 broad.mit.edu 37 X 129149296 129149296 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:129149296G>C ENST00000540052.1 + 3 2592 c.2548G>C c.(2548-2550)Ggg>Cgg p.G850R BCORL1_ENST00000359304.2_Missense_Mutation_p.G850R|BCORL1_ENST00000303743.5_Missense_Mutation_p.G850R|BCORL1_ENST00000218147.7_Missense_Mutation_p.G850R NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 850 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TTCCAGTGCCGGGCAGCTGAC 0.617000 50 13 0 0 1 0 0 MS4A3 932 broad.mit.edu 37 11 59834552 59834552 + Silent SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:59834552G>A ENST00000278865.3 + 5 553 c.480G>A c.(478-480)ccG>ccA p.P160P MS4A3_ENST00000534744.1_Silent_p.P114P|MS4A3_ENST00000358152.2_Silent_p.P114P|MS4A3_ENST00000395032.2_Silent_p.P37P NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 160 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) CAGAGTCACCGGACCTATGCA 0.353000 6 14 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120021734 120021734 + Missense_Mutation SNP G G C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:120021734G>C ENST00000379551.2 + 3 533 c.176G>C c.(175-177)aGt>aCt p.S59T PRR16_ENST00000407149.2_Missense_Mutation_p.S82T|PRR16_ENST00000505123.1_Missense_Mutation_p.S12T|PRR16_ENST00000446965.1_Missense_Mutation_p.S12T NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 82 endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) ACGCTGAATAGTAGCTCAAGT 0.522000 39 50 0 0 1 0 0 POU3F3 5455 broad.mit.edu 37 2 105473124 105473124 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:105473124G>T ENST00000361360.2 + 1 1156 c.1156G>T c.(1156-1158)Gag>Tag p.E386* RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 386 POU-specific. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 GTGGCTGGAGGAGGCGGACTC 0.617000 14 20 2.62699e-14 3.71075e-14 1 1 0 OR10G4 390264 broad.mit.edu 37 11 123886335 123886335 + Silent SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:123886335C>A ENST00000320891.4 + 1 54 c.54C>A c.(52-54)gcC>gcA p.A18A NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TTCCCCATGCCCCAGGGCTGG 0.567000 31 25 1.4709e-25 2.4504e-25 1 1 0 GOLIM4 27333 broad.mit.edu 37 3 167754688 167754688 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:167754688T>A ENST00000470487.1 - 8 1468 c.779A>T c.(778-780)cAg>cTg p.Q260L GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q232L NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 260 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 ATGTGCCACCTGGGTCACATT 0.468000 54 98 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102649958 102649958 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:102649958G>A ENST00000279441.4 - 3 518 c.482C>T c.(481-483)tCt>tTt p.S161F NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 161 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) AACTGCAAAAGAGATCATTAT 0.393000 27 96 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823227 47823227 + Nonsense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:47823227G>T ENST00000355085.3 + 2 215 c.193G>T c.(193-195)Gag>Tag p.E65* NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 65 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) GACGGCATTCGAGGCCAAGCG 0.587000 67 18 2.89935e-36 5.19715e-36 1 1 0 ADRA2B 151 broad.mit.edu 37 2 96780812 96780812 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:96780812C>A ENST00000409345.3 - 1 1172 c.1077G>T c.(1075-1077)caG>caT p.Q359H NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 362 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CCCGGGTCAGCTGCGCCCGTC 0.652000 7 22 1.06961e-07 1.30819e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179593083 179593083 + Missense_Mutation SNP T T C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:179593083T>C ENST00000589042.1 - 67 19692 c.19468A>G c.(19468-19470)Atg>Gtg p.M6490V TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M5246V|TTN_ENST00000591111.1_Missense_Mutation_p.M6173V|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6173 Ig-like 46. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTTATCCATTTTGGTTAAT 0.363000 17 15 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155148068 155148068 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:155148068C>T ENST00000392451.2 + 2 353 c.270C>T c.(268-270)cgC>cgT p.R90R TRIM46_ENST00000334634.4_Silent_p.R90R|TRIM46_ENST00000543729.1_Silent_p.R97R|TRIM46_ENST00000368383.3_Silent_p.R90R|TRIM46_ENST00000368382.1_Silent_p.R67R|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000368385.4_Silent_p.R90R Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 90 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCAGCCCCCGCCTCTCCCGCA 0.667000 16 79 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18662029 18662029 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr9:18662029A>T ENST00000380548.4 + 9 1382 c.1043A>T c.(1042-1044)aAa>aTa p.K348I ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.K348I|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.K348I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.K348I NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 348 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) ATCAAACCCAAACCCAAGCTT 0.448000 13 79 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38974004 38974004 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:38974004G>T ENST00000355481.4 + 33 4913 c.4782G>T c.(4780-4782)ctG>ctT p.L1594L RYR1_ENST00000360985.3_Silent_p.L1594L|RYR1_ENST00000359596.3_Silent_p.L1594L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1594 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CACCGCGGCTGGAGATGCAGA 0.657000 3 8 0.115264 0.117317 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25427729 25427729 + RNA SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:25427729C>A ENST00000424208.1 + 0 272 NR_003305.1 GTGCCCAACCCTGTCTCTGCG 0.607000 28 9 6.32553e-13 8.71153e-13 1 1 0 ARC 23237 broad.mit.edu 37 8 143695349 143695349 + Missense_Mutation SNP A A T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr8:143695349A>T ENST00000356613.2 - 1 1484 c.284T>A c.(283-285)cTg>cAg p.L95Q NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 95 Binds SH3GL1 or SH3GL3 (By similarity). endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) GCAGCGGCACAGGCAGGCCTT 0.672000 12 6 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580339 140580339 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:140580339C>A ENST00000354757.3 + 1 992 c.992C>A c.(991-993)tCt>tAt p.S331Y PCDHB11_ENST00000536699.1_5'UTR NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 331 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGGAAAATCTACAGTCATA 0.398000 53 25 4.25531e-23 6.92595e-23 1 1 0 SND1 27044 broad.mit.edu 37 7 127727085 127727085 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:127727085C>A ENST00000354725.3 + 21 2594 c.2400C>A c.(2398-2400)ttC>ttA p.F800L NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 800 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 CCTTCGCCTTCATCCAGGTGC 0.597000 36 36 1.36161e-19 2.1011e-19 1 1 0 LRRC16B 90668 broad.mit.edu 37 14 24527233 24527233 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:24527233G>T ENST00000342740.5 + 16 1436 c.1282G>T c.(1282-1284)Gtc>Ttc p.V428F LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 428 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) ACTGAGCCACGTCAATCTGTC 0.667000 OREG0022615 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 59 1.03172e-35 1.84716e-35 1 1 0 KMO 8564 broad.mit.edu 37 1 241753361 241753361 + Missense_Mutation SNP G G A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:241753361G>A ENST00000366559.4 + 13 1457 c.1146G>A c.(1144-1146)atG>atA p.M382I KMO_ENST00000366558.3_Missense_Mutation_p.M369I|KMO_ENST00000366557.4_Intron NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 382 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) AGAAGAACATGGAGAGATTTC 0.378000 21 72 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16060127 16060127 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:16060127T>A ENST00000322107.1 + 1 310 c.310T>A c.(310-312)Ttc>Atc p.F104I NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 CCAGATGTTCTTCTCCTTCAT 0.507000 246 58 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99779761 99779761 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:99779761C>A ENST00000426455.1 + 3 572 c.165C>A c.(163-165)agC>agA p.S55R STAG3_ENST00000317296.5_Missense_Mutation_p.S55R|STAG3_ENST00000394018.2_Missense_Mutation_p.S55R Q9UJ98 STAG3_HUMAN stromal antigen 3 55 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTGAAGACAGCTTGAATCGCA 0.428000 4 35 0.184627 0.18613 1 1 0 DACH2 117154 broad.mit.edu 37 X 86069728 86069728 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:86069728C>T ENST00000373131.1 + 9 1699 c.1536C>T c.(1534-1536)acC>acT p.T512T DACH2_ENST00000510272.1_Silent_p.T306T|DACH2_ENST00000508860.1_Silent_p.T358T|DACH2_ENST00000373125.4_Silent_p.T525T|DACH2_ENST00000477378.2_Intron NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 525 DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 AGAAAAAAACCAAGAGAAAAT 0.448000 22 7 0 0 1 0 0 REG3A 5068 broad.mit.edu 37 2 79386511 79386511 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:79386511C>T ENST00000393878.1 - 1 275 c.21G>A c.(19-21)ctG>ctA p.L7L REG3A_ENST00000305165.2_Silent_p.L7L|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Silent_p.L7L NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 7 acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding p.L7L(1) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 ATACACTGGGCAGGGCCATGG 0.532000 16 32 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577541 7577541 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:7577541T>A ENST00000420246.2 - 7 872 c.740A>T c.(739-741)aAc>aTc p.N247I TP53_ENST00000413465.2_Missense_Mutation_p.N247I|TP53_ENST00000359597.4_Missense_Mutation_p.N247I|TP53_ENST00000269305.4_Missense_Mutation_p.N247I|TP53_ENST00000445888.2_Missense_Mutation_p.N247I|TP53_ENST00000455263.2_Missense_Mutation_p.N247I NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 247 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. N -> D (in sporadic cancers; somatic mutation).|N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.N247S(7)|p.?(5)|p.N247T(4)|p.N247I(3)|p.N247_R248delNR(2)|p.M246_P250delMNRRP(2)|p.N247F(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.N247fs*98(1)|p.G245fs*16(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) GGGCCTCCGGTTCATGCCGCC 0.577000 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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 26 10 0 0 1 0 0 HFE2 148738 broad.mit.edu 37 1 145415492 145415493 + Frame_Shift_Ins INS - - T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:145415492_145415493insT ENST00000336751.5 + 3 549_550 c.311_312insT c.(310-312)ctcfs p.L104fs HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 104 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTCGCCTTCCATTCGGCGGTAC 0.723 19 97 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152286930 152286931 + Frame_Shift_Ins INS - - G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:152286930_152286931insG ENST00000368799.1 - 3 466_467 c.431_432insC c.(430-432)cagfs p.Q144fs FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 144 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTTTCTCTTGGGCTCTTGGA 0.356 Ichthyosis 42 163 --- --- --- --- FCRL6 343413 broad.mit.edu 37 1 159776394 159776395 + Frame_Shift_Ins INS - - T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:159776394_159776395insT ENST00000321935.6 + 3 147_148 c.61_62insT c.(61-63)tggfs p.W21fs FCRL6_ENST00000392235.3_Frame_Shift_Ins_p.W14fs|FCRL6_ENST00000368106.3_Frame_Shift_Ins_p.W14fs|FCRL6_ENST00000339348.5_Frame_Shift_Ins_p.W14fs Q6DN72 FCRL6_HUMAN Fc receptor-like 6 14 Ig-like C2-type 1. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) AGTTCCCTGTGTTGGGAAAACT 0.455 131 260 --- --- --- --- PSEN2 5664 broad.mit.edu 37 1 227073315 227073335 + In_Frame_Del DEL ATGATCAGCGTCATCGTGGTT ATGATCAGCGTCATCGTGGTT - rs114334281 byFrequency TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr1:227073315_227073335delATGATCAGCGTCATCGTGGTT ENST00000366782.1 + 6 1032_1052 c.532_552delATGATCAGCGTCATCGTGGTT c.(532-552)del p.MISVIVV178del PSEN2_ENST00000340188.4_In_Frame_Del_p.MISVIVV145del|PSEN2_ENST00000366783.3_In_Frame_Del_p.MISVIVV145del|PSEN2_ENST00000472139.2_Start_Codon_Del|PSEN2_ENST00000391872.2_In_Frame_Del_p.MISVIVV178del|PSEN2_ENST00000422240.2_In_Frame_Del_p.MISVIVV145del P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 145 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding p.V150L(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) CACCCTCATCATGATCAGCGTCATCGTGGTTATGACCATCT 0.588 7 27 --- --- --- --- ST3GAL5 8869 broad.mit.edu 37 2 86075204 86075204 + Frame_Shift_Del DEL C C - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr2:86075204delC ENST00000377332.3 - 4 550 c.442delG c.(442-444)ccfs p.A148fs ST3GAL5_ENST00000393808.3_Frame_Shift_Del_p.A125fs|ST3GAL5_ENST00000393805.1_Frame_Shift_Del_p.A120fs NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 148 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 TCTTTGGGGGCCTTCTGCACA 0.498 138 152 --- --- --- --- MME 4311 broad.mit.edu 37 3 154861310 154861311 + Frame_Shift_Ins INS - - T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr3:154861310_154861311insT ENST00000460393.1 + 13 1387_1388 c.1267_1268insT c.(1267-1269)gggfs p.G423fs MME_ENST00000360490.2_Frame_Shift_Ins_p.G423fs|MME_ENST00000492661.1_Frame_Shift_Ins_p.G423fs|MME_ENST00000493237.1_Frame_Shift_Ins_p.G423fs|MME_ENST00000462745.1_Frame_Shift_Ins_p.G423fs NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 423 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GGAAAATGCTGTGGGGAGGCTT 0.401 64 89 --- --- --- --- ITGA2 3673 broad.mit.edu 37 5 52358631 52358631 + Frame_Shift_Del DEL G G - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:52358631delG ENST00000296585.5 + 13 1617 c.1474delG c.(1474-1476)gtfs p.G492fs NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 492 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CTCCTATTTTGGTAGTGTGCT 0.373 61 113 --- --- --- --- DOCK2 1794 broad.mit.edu 37 5 169129342 169129342 + Frame_Shift_Del DEL C C - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr5:169129342delC ENST00000256935.8 + 14 1374 c.1294delC c.(1294-1296)aafs p.Q432fs NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 432 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TACTCTCTTACAAGGTGACTT 0.493 OREG0017017 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 22 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883238 52883238 + Frame_Shift_Del DEL C C - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:52883238delC ENST00000356971.3 - 8 1042 c.553delG c.(553-555)cgfs p.A185fs ICK_ENST00000350082.5_Frame_Shift_Del_p.A185fs NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 185 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) CAGCCCACCGCCCAGACGTCA 0.517 71 68 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152476030 152476030 + Frame_Shift_Del DEL A A - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr6:152476030delA ENST00000367255.5 - 133 24727 c.24126delT c.(24124-24126)ttfs p.F8042fs SYNE1_ENST00000265368.4_Frame_Shift_Del_p.F8042fs|SYNE1_ENST00000539504.1_Frame_Shift_Del_p.F197fs|SYNE1_ENST00000356820.4_Frame_Shift_Del_p.F2566fs|SYNE1_ENST00000341594.5_Frame_Shift_Del_p.F7654fs|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Frame_Shift_Del_p.F7971fs|SYNE1_ENST00000354674.4_Frame_Shift_Del_p.F197fs|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.F7971fs NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8042 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGATTACCTCAAATTTCTTTA 0.393 HNSCC(10;0.0054) 27 82 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103205846 103205847 + Frame_Shift_Ins INS - - A rs114551393 by1000genomes TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:103205846_103205847insA ENST00000428762.1 - 34 5247_5248 c.5088_5089insT c.(5086-5091)cttcacfs p.H1697fs RELN_ENST00000343529.5_Frame_Shift_Ins_p.H1697fs|RELN_ENST00000424685.2_Frame_Shift_Ins_p.H1697fs NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1697 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCTTCGGTGACAAGATGCCAGT 0.470 25 35 --- --- --- --- TRPV5 56302 broad.mit.edu 37 7 142625958 142625958 + Frame_Shift_Del DEL T T - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:142625958delT ENST00000265310.1 - 6 938 c.590delA c.(589-591)acfs p.N197fs TRPV5_ENST00000442623.1_Frame_Shift_Del_p.N197fs NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 197 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TAATACTGTGTTTCCTGGGGA 0.562 47 67 --- --- --- --- PTPRN2 5799 broad.mit.edu 37 7 157414097 157414098 + Frame_Shift_Ins INS - - T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr7:157414097_157414098insT ENST00000389413.3 - 14 2316_2317 c.2213_2214insA c.(2212-2214)agafs p.R738fs PTPRN2_ENST00000389418.4_Frame_Shift_Ins_p.R767fs|PTPRN2_ENST00000389416.4_Frame_Shift_Ins_p.R750fs|PTPRN2_ENST00000404321.2_Frame_Shift_Ins_p.R790fs|PTPRN2_ENST00000409483.1_Frame_Shift_Ins_p.R729fs NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 767 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CGTTCTCCTCCCTCTGGGCCAC 0.644 150 206 --- --- --- --- MLLT10 8028 broad.mit.edu 37 10 21962662 21962662 + Frame_Shift_Del DEL G G - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr10:21962662delG ENST00000377072.3 + 11 1783 c.1435delG c.(1435-1437)gcfs p.G479fs MLLT10_ENST00000307729.7_Frame_Shift_Del_p.G479fs|MLLT10_ENST00000446906.2_Frame_Shift_Del_p.G479fs|MLLT10_ENST00000377059.3_Frame_Shift_Del_p.G479fs NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 479 DNA-binding. 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 NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GCATGGGCCTGGCAGACCCAA 0.413 T """MLL, PICALM, CDK6""" AL 65 80 --- --- --- --- OR56B4 196335 broad.mit.edu 37 11 6129103 6129103 + Frame_Shift_Del DEL G G - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:6129103delG ENST00000316529.3 + 1 190 c.95delG c.(94-96)tgfs p.W32fs NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCAGCACTGGCTCTCCCTG 0.507 32 45 --- --- --- --- PAX6 5080 broad.mit.edu 37 11 31815604 31815604 + Frame_Shift_Del DEL T T - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:31815604delT ENST00000419022.1 - 10 1251 c.783delA c.(781-783)atfs p.I261fs PAX6_ENST00000379111.2_Frame_Shift_Del_p.I247fs|PAX6_ENST00000241001.8_Frame_Shift_Del_p.I247fs|PAX6_ENST00000379129.2_Frame_Shift_Del_p.I261fs|PAX6_ENST00000379107.2_Frame_Shift_Del_p.I261fs|PAX6_ENST00000379115.4_Frame_Shift_Del_p.I261fs|PAX6_ENST00000379123.5_Frame_Shift_Del_p.I247fs|PAX6_ENST00000379132.3_Frame_Shift_Del_p.I247fs NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 247 blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) CAGGTAGATCTATTTTGGCTG 0.413 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 77 102 --- --- --- --- DRD2 1813 broad.mit.edu 37 11 113283323 113283323 + Frame_Shift_Del DEL G G - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:113283323delG ENST00000362072.3 - 7 1437 c.1093delC c.(1093-1095)agfs p.Q366fs DRD2_ENST00000544518.1_Frame_Shift_Del_p.Q365fs|DRD2_ENST00000542968.1_Frame_Shift_Del_p.Q366fs|DRD2_ENST00000346454.3_Frame_Shift_Del_p.Q337fs|DRD2_ENST00000355319.2_Frame_Shift_Del_p.Q368fs|DRD2_ENST00000538967.1_Frame_Shift_Del_p.Q368fs NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 366 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) TCCTTCTGCTGGGAGAGCTTC 0.567 13 33 --- --- --- --- DRD2 1813 broad.mit.edu 37 11 113295193 113295193 + Frame_Shift_Del DEL G G - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:113295193delG ENST00000362072.3 - 2 525 c.181delC c.(181-183)gcfs p.R61fs DRD2_ENST00000544518.1_Frame_Shift_Del_p.R61fs|DRD2_ENST00000542968.1_Frame_Shift_Del_p.R61fs|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Frame_Shift_Del_p.R61fs|DRD2_ENST00000355319.2_Frame_Shift_Del_p.R61fs|DRD2_ENST00000538967.1_Frame_Shift_Del_p.R61fs NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 61 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GCCTTCTCGCGGGACACAGCC 0.607 14 28 --- --- --- --- HSPA8 3312 broad.mit.edu 37 11 122928528 122928529 + Frame_Shift_Ins INS - - T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr11:122928528_122928529insT ENST00000534624.1 - 9 2130_2131 c.1854_1855insA c.(1852-1857)ccgaggfs p.R619fs HSPA8_ENST00000453788.2_Frame_Shift_Ins_p.R466fs|HSPA8_ENST00000533540.1_Frame_Shift_Ins_p.R473fs|HSPA8_ENST00000227378.3_Frame_Shift_Ins_p.R619fs|HSPA8_ENST00000534319.1_Frame_Shift_Ins_p.R383fs|HSPA8_ENST00000532636.1_Frame_Shift_Ins_p.R619fs|HSPA8_ENST00000526110.1_Frame_Shift_Ins_p.R600fs NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 619 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GGCATTCCTCCTGGCATGCCTC 0.520 51 61 --- --- --- --- TEX26 122046 broad.mit.edu 37 13 31540398 31540398 + Frame_Shift_Del DEL G G - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:31540398delG ENST00000380473.3 + 5 522 c.509delG c.(508-510)tgfs p.W170fs TEX26_ENST00000530916.1_Intron NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 170 TCTCTGGAATGGAAAAAGTTA 0.398 29 28 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48954366 48954366 + Frame_Shift_Del DEL C C - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:48954366delC ENST00000267163.4 + 16 1625 c.1487delC c.(1486-1488)gcfs p.A496fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 496 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.A496fs*4(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTTGTAATGGCCACATATAGC 0.323 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 16 4 --- --- --- --- NALCN 259232 broad.mit.edu 37 13 101777002 101777002 + Frame_Shift_Del DEL T T - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr13:101777002delT ENST00000251127.6 - 18 2230 c.2149delA c.(2149-2151)ggfs p.R717fs NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 717 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGAAGGTTCCTTGCCCTGATG 0.333 36 78 --- --- --- --- RP11-536C10.16 0 broad.mit.edu 37 14 19412612 19412612 + RNA DEL G G - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:19412612delG ENST00000550928.1 + 0 93 TATGGCGGGAGGGGAATACTT 0.547 7 17 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 3 3 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28465785 28465785 + Frame_Shift_Del DEL C C - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr15:28465785delC ENST00000261609.7 - 37 5766 c.5658delG c.(5656-5658)ggfs p.G1886fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1886 MIB/HERC2. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTGGAGGAGGCCCATCCTGAG 0.587 63 26 --- --- --- --- TEX2 55852 broad.mit.edu 37 17 62290280 62290281 + Frame_Shift_Ins INS - - C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr17:62290280_62290281insC ENST00000258991.3 - 2 1381_1382 c.1297_1298insG c.(1297-1299)gagfs p.E433fs TEX2_ENST00000584379.1_Frame_Shift_Ins_p.E433fs|TEX2_ENST00000583097.1_Frame_Shift_Ins_p.E433fs Q8IWB9 TEX2_HUMAN testis expressed 2 433 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) AACTTTACTCTCCCCCTCCGTT 0.485 73 185 --- --- --- --- ANKLE1 126549 broad.mit.edu 37 19 17397457 17397462 + In_Frame_Del DEL GTGTGT GTGTGT - rs59660863 TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:17397457_17397462delGTGTGT ENST00000598347.1 + 8 1729_1734 c.1727_1732delGTGTGT c.(1726-1734)ggt>g p.GVC576del ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000404085.1_3'UTR|ANKLE1_ENST00000394458.3_3'UTR NM_001278444.1 NP_001265373.1 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 0 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 TTCAGAAGGGgtgtgtgtgtgtgtgt 0.563 2 4 --- --- --- --- IL4I1 259307 broad.mit.edu 37 19 50399197 50399198 + Frame_Shift_Ins INS - - A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:50399197_50399198insA ENST00000595948.1 - 5 812_813 c.192_193insT c.(190-195)taagcafs p.*A64fs IL4I1_ENST00000391826.2_Frame_Shift_Ins_p.*A42fs|IL4I1_ENST00000341114.3_Frame_Shift_Ins_p.*A64fs NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 42 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) AGCAGCTGCTCATAGTCAGGAT 0.629 91 29 --- --- --- --- ZSCAN22 342945 broad.mit.edu 37 19 58849727 58849727 + Frame_Shift_Del DEL G G - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chr19:58849727delG ENST00000329665.4 + 3 658 c.511delG c.(511-513)gafs p.G171fs NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 171 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) TGTTTCCCTTGGACCCGCCTT 0.557 60 9 --- --- --- --- CFP 5199 broad.mit.edu 37 X 47485755 47485755 + Frame_Shift_Del DEL C C - TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:47485755delC ENST00000247153.3 - 8 1345 c.1104delG c.(1102-1104)cgfs p.R368fs CFP_ENST00000377005.2_Frame_Shift_Del_p.R368fs|CFP_ENST00000396992.3_Frame_Shift_Del_p.R368fs NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 368 TSP type-1 5. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 TGTAGCAGTGCCGGATATCCT 0.607 11 4 --- --- --- --- GPR112 139378 broad.mit.edu 37 X 135430723 135430724 + Frame_Shift_Ins INS - - C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx f92ba61d-29a2-4cdd-b84f-87b4f35293aa a4dd8cd0-b74a-4c1e-b680-8e4b1029f636 g.chrX:135430723_135430724insC ENST00000394143.1 + 6 5149_5150 c.4858_4859insC c.(4858-4860)aaafs p.K1620fs GPR112_ENST00000370652.1_Frame_Shift_Ins_p.K1620fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.K1415fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.K1415fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.K1557fs NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1620 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGGGGCTACTTCAAAAAACAAA 0.426 93 30 --- --- --- ---