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 HIVEP3 59269 broad.mit.edu 37 1 41978662 41978662 + Missense_Mutation SNP G G A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr1:41978662G>A ENST00000372584.1 - 7 7244 c.6230C>T c.(6229-6231)gCc>gTc p.A2077V HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2077 6 X 4 AA tandem repeats of S-P-X-[RK]. 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) TGGTGACTCGGCCTGACCTGG 0.687000 3 43 0 0 0.004672 0 0 PCDHA4 0 broad.mit.edu 37 5 140187629 140187629 + Missense_Mutation SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr5:140187629C>T ENST00000530339.1 + 1 857 c.857C>T c.(856-858)tCg>tTg p.S286L PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L NM_018907.2 NP_061730.1 p.S286L(1) breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATGATATTTCGCCAAATGTG 0.313000 7 84 0 0 0.029380 0 0 PPP3CC 5533 broad.mit.edu 37 8 22368644 22368644 + Missense_Mutation SNP C C A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr8:22368644C>A ENST00000240139.5 + 5 857 c.530C>A c.(529-531)aCa>aAa p.T177K PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme 177 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) TGTATGGAGACATTTGACTGT 0.383000 5 122 0.000602214 0.000789109 0.014758 1 0 PCDHA3 0 broad.mit.edu 37 5 140181071 140181071 + Missense_Mutation SNP G G C TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr5:140181071G>C ENST00000522353.2 + 1 289 c.289G>C c.(289-291)Ggg>Cgg p.G97R PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R NM_018906.2 NP_061729.1 p.G97R(2)|p.G97W(2) 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) GGAACTGTGCGGGCGGAGCGC 0.557000 7 346 0 0 0.069234 0 0 IL2RB 0 broad.mit.edu 37 22 37524348 37524348 + Silent SNP G G A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr22:37524348G>A ENST00000216223.5 - 10 1642 c.1444C>T c.(1444-1446)Ctg>Ttg p.L482L NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 482 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) AAATCCACCAGGTCTGGGACT 0.662000 5 73 0 0 0.029380 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. 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) gggctggggctggggctgggg 0.567000 5 29 0 0 0.080935 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 93 0 0 0.004672 0 0 CAMKMT 79823 broad.mit.edu 37 2 44933479 44933479 + Splice_Site SNP T T G TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr2:44933479T>G ENST00000378494.3 + 5 535 c.492_splice c.e5+1 p.M164_splice NM_024766.3 NP_079042.1 Q7Z624 CMKMT_HUMAN calmodulin-lysine N-methyltransferase 164 cytoplasm calmodulin-lysine N-methyltransferase activity breast(2)|large_intestine(3)|lung(5) 10 GCTGGGCTCATGGTAGGTCTT 0.483000 5 155 0 0 0.038147 0 0 NUDT2 318 broad.mit.edu 37 9 34343327 34343327 + Silent SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr9:34343327C>T ENST00000379158.2 + 5 691 c.333C>T c.(331-333)caC>caT p.H111H NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H NM_001161.4 NP_001152.1 P50583 AP4A_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 2 111 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding lung(3) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CCCATGAGCACCAAGCCTACC 0.557000 4 94 0 0 0.009096 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661362 22661362 + RNA SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr22:22661362C>T ENST00000426066.1 + 0 360 NR_027293.1 TGGGCAACAGCGAGGGAAATG 0.502000 4 84 0 0 0.009096 0 0 RDH10 157506 broad.mit.edu 37 8 74235228 74235228 + Missense_Mutation SNP G G A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr8:74235228G>A ENST00000240285.5 + 6 1661 c.983G>A c.(982-984)aGa>aAa p.R328K RDH10_ENST00000519380.1_Missense_Mutation_p.R163K|RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA NM_172037.4 NP_742034.1 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 (all-trans) 328 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) ATTGCTCAAAGAAAGCAAGCC 0.383000 6 43 0 0 0.038147 0 0 MYOM1 8736 broad.mit.edu 37 18 3188882 3188882 + Missense_Mutation SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr18:3188882C>T ENST00000400569.3 - 4 968 c.635G>A c.(634-636)aGg>aAg p.R212K MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K|MYOM1_ENST00000356443.4_Missense_Mutation_p.R212K P52179 MYOM1_HUMAN myomesin 1 212 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.R212K(1) 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 CGTGGACTGCCTGGATGCCGT 0.517000 6 108 0 0 0.058154 0 0 FBXO46 23403 broad.mit.edu 37 19 46216533 46216533 + Missense_Mutation SNP G G A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr19:46216533G>A ENST00000317683.3 - 2 354 c.221C>T c.(220-222)tCa>tTa p.S74L NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 74 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) AGCTGCTGCTGAGAGGAGCGG 0.642000 5 106 0 0 0.021553 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41616870 41616870 + Missense_Mutation SNP G G T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr22:41616870G>T ENST00000216237.5 + 7 1009 c.851G>T c.(850-852)cGg>cTg p.R284L NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 284 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTGCCCCCACGGAGTGAGTTG 0.537000 4 67 0.00024832 0.000337006 0.009096 1 0 KIRREL 55243 broad.mit.edu 37 1 158057909 158057909 + Missense_Mutation SNP G G T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr1:158057909G>T ENST00000368172.1 + 3 287 c.275G>T c.(274-276)gGa>gTa p.G92V KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V|KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 294 Ig-like C2-type 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) AACAAAGTGGGAAGCACCAAT 0.522000 OREG0013906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 253 1.12685e-05 1.58594e-05 0.047766 1 0 KCTD19 146212 broad.mit.edu 37 16 67335718 67335718 + Missense_Mutation SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr16:67335718C>T ENST00000304372.5 - 5 806 c.751G>A c.(751-753)Gta>Ata p.V251I KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 251 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TACCACCTTACGGCTTCAGTG 0.473000 15 253 0 0 0.024245 0 0 CLIC1 1192 broad.mit.edu 37 6 31701956 31701956 + Missense_Mutation SNP T T G TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr6:31701956T>G ENST00000375780.2 - 3 696 c.124A>C c.(124-126)Aat>Cat p.N42H CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H O00299 CLIC1_HUMAN chloride intracellular channel 1 42 Required for insertion into the membrane. signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 GTGGTAACATTGAAGGTGACT 0.517000 3 63 0 0 0.004672 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978662 41978662 + Missense_Mutation SNP G G A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr1:41978662G>A ENST00000372584.1 - 7 7244 c.6230C>T c.(6229-6231)gCc>gTc p.A2077V HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2077 6 X 4 AA tandem repeats of S-P-X-[RK]. 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) TGGTGACTCGGCCTGACCTGG 0.687000 3 43 0 0 0.004672 0 0 PCDHA4 0 broad.mit.edu 37 5 140187629 140187629 + Missense_Mutation SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr5:140187629C>T ENST00000530339.1 + 1 857 c.857C>T c.(856-858)tCg>tTg p.S286L PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018907.2 NP_061730.1 p.S286L(1) breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATGATATTTCGCCAAATGTG 0.313000 7 84 0 0 0.029380 0 0 PPP3CC 5533 broad.mit.edu 37 8 22368644 22368644 + Missense_Mutation SNP C C A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr8:22368644C>A ENST00000240139.5 + 5 857 c.530C>A c.(529-531)aCa>aAa p.T177K PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme 177 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) TGTATGGAGACATTTGACTGT 0.383000 5 122 0.000602214 0.000729957 0.014758 1 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 4 34 0 0 0.009096 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 56 0 0 0.009096 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 12 33 0 0 0.033300 0 0 CAMKMT 79823 broad.mit.edu 37 2 44933479 44933479 + Splice_Site SNP T T G TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr2:44933479T>G ENST00000378494.3 + 5 535 c.492_splice c.e5+1 p.M164_splice NM_024766.3 NP_079042.1 Q7Z624 CMKMT_HUMAN calmodulin-lysine N-methyltransferase 164 cytoplasm calmodulin-lysine N-methyltransferase activity breast(2)|large_intestine(3)|lung(5) 10 GCTGGGCTCATGGTAGGTCTT 0.483000 5 155 0 0 0.038147 0 0 NUDT2 318 broad.mit.edu 37 9 34343327 34343327 + Silent SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr9:34343327C>T ENST00000379158.2 + 5 691 c.333C>T c.(331-333)caC>caT p.H111H NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H NM_001161.4 NP_001152.1 P50583 AP4A_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 2 111 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding lung(3) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CCCATGAGCACCAAGCCTACC 0.557000 4 94 0 0 0.009096 0 0 IL2RB 0 broad.mit.edu 37 22 37524348 37524348 + Silent SNP G G A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr22:37524348G>A ENST00000216223.5 - 10 1642 c.1444C>T c.(1444-1446)Ctg>Ttg p.L482L NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 482 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) AAATCCACCAGGTCTGGGACT 0.662000 5 73 0 0 0.029380 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 93 0 0 0.004672 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661362 22661362 + RNA SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr22:22661362C>T ENST00000426066.1 + 0 360 NR_027293.1 TGGGCAACAGCGAGGGAAATG 0.502000 4 84 0 0 0.009096 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41616870 41616870 + Missense_Mutation SNP G G T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr22:41616870G>T ENST00000216237.5 + 7 1009 c.851G>T c.(850-852)cGg>cTg p.R284L NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 284 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTGCCCCCACGGAGTGAGTTG 0.537000 4 67 0.00024832 0.0003104 0.009096 1 0 PTCH2 8643 broad.mit.edu 37 1 45296670 45296670 + Silent SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr1:45296670C>T ENST00000447098.2 - 6 674 c.663G>A c.(661-663)ctG>ctA p.L221L PTCH2_ENST00000372192.3_Silent_p.L221L NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 221 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) GCTCCTCCAGCAGCTGCTCTG 0.632000 Basal Cell Nevus syndrome 7 41 0 0 0.038147 0 0 FBXO46 23403 broad.mit.edu 37 19 46216533 46216533 + Missense_Mutation SNP G G A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr19:46216533G>A ENST00000317683.3 - 2 354 c.221C>T c.(220-222)tCa>tTa p.S74L NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 74 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) AGCTGCTGCTGAGAGGAGCGG 0.642000 5 106 0 0 0.021553 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 42 0 0 0.014758 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 5 51 0 0 0.014758 0 0 KIRREL 55243 broad.mit.edu 37 1 158057909 158057909 + Missense_Mutation SNP G G T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr1:158057909G>T ENST00000368172.1 + 3 287 c.275G>T c.(274-276)gGa>gTa p.G92V KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V|KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 294 Ig-like C2-type 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) AACAAAGTGGGAAGCACCAAT 0.522000 OREG0013906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 253 1.12685e-05 1.454e-05 0.047766 1 0 KCTD19 146212 broad.mit.edu 37 16 67335718 67335718 + Missense_Mutation SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr16:67335718C>T ENST00000304372.5 - 5 806 c.751G>A c.(751-753)Gta>Ata p.V251I KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 251 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TACCACCTTACGGCTTCAGTG 0.473000 15 253 0 0 0.024245 0 0 CLIC1 1192 broad.mit.edu 37 6 31701956 31701956 + Missense_Mutation SNP T T G TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr6:31701956T>G ENST00000375780.2 - 3 696 c.124A>C c.(124-126)Aat>Cat p.N42H CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H O00299 CLIC1_HUMAN chloride intracellular channel 1 42 Required for insertion into the membrane. signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 GTGGTAACATTGAAGGTGACT 0.517000 3 63 0 0 0.004672 0 0 TAF11 6882 broad.mit.edu 37 6 34846380 34846381 + Frame_Shift_Ins INS - - T rs139408667 TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr6:34846380_34846381insT ENST00000361288.4 - 5 753_754 c.622_623insA c.(622-624)catfs p.H208fs TAF11_ENST00000420584.2_3'UTR|UHRF1BP1_ENST00000452449.2_Intron NM_005643.3 NP_005634.1 Q15544 TAF11_HUMAN TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa 208 positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding p.I208fs*>4(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 GAAGAAGATGATTTTTTTGTGC 0.421 7 135 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 7 169 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 4 7 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 4 8 --- --- --- --- RTL1 388015 broad.mit.edu 37 14 101350670 101350671 + In_Frame_Ins INS - - TCT rs55755518 by1000genomes TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 d3af2d8c-acc9-4f61-8ccb-79909bd3d439 g.chr14:101350670_101350671insTCT ENST00000534062.1 - 1 513_514 c.455_456insAGA c.(454-456)gca>gAGAca p.152_152A>ET NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 152 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCTGGTTTTGCTCTTGAGGAGT 0.520 5 6 --- --- --- ---