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 SIGIRR 59307 broad.mit.edu 37 11 406533 406533 + Silent SNP A A G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr11:406533A>G ENST00000431843.2 - 9 1191 c.885T>C c.(883-885)ccT>ccC p.P295P SIGIRR_ENST00000382520.2_Silent_p.P295P|SIGIRR_ENST00000332725.3_Silent_p.P295P|SIGIRR_ENST00000397632.3_Silent_p.P295P|SIGIRR_ENST00000531205.1_Silent_p.P295P NM_001135054.1 NP_001128526.1 Q6IA17 SIGIR_HUMAN single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 295 TIR. acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AATCGGAGGAAGGAGTCTGGG 0.652000 38 64 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820627 35820627 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chrX:35820627C>T ENST00000399989.1 + 2 593 c.314C>T c.(313-315)cCc>cTc p.P105L MAGEB16_ENST00000399987.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399988.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399992.1_Missense_Mutation_p.P137L|MAGEB16_ENST00000399985.1_Missense_Mutation_p.P105L NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 105 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 ACATCAGACCCCAGGAATGTG 0.468000 10 14 0 0 1 0 0 SNURF 8926 broad.mit.edu 37 15 25213099 25213099 + Missense_Mutation SNP G G A rs142583293 TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr15:25213099G>A ENST00000338094.6 + 3 192 c.131G>A c.(130-132)cGt>cAt p.R44H SNURF_ENST00000577949.1_Missense_Mutation_p.R44H|SNRPN_ENST00000346403.6_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.R44H|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400097.1_5'UTR NM_003097.3|NM_005678.3 NP_003088.1|NP_005669.2 SNRPN upstream reading frame breast(2)|large_intestine(2)|lung(1) 5 all_cancers(20;1.4e-21)|Breast(32;0.000625) all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142) TACCCGAGGCGTTCTCAGCAG 0.413000 32 67 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17531092 17531092 + Silent SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr11:17531092C>T ENST00000005226.7 - 18 1823 c.1824G>A c.(1822-1824)ccG>ccA p.P608P USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GAACGGATGGCGGGGGAGGGA 0.662000 12 20 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47694709 47694709 + Silent SNP C C T rs17853186 TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr16:47694709C>T ENST00000455779.1 + 23 2339 c.2154C>T c.(2152-2154)caC>caT p.H718H PHKB_ENST00000299167.8_Silent_p.H725H|PHKB_ENST00000323584.5_Silent_p.H725H|PHKB_ENST00000566044.1_Silent_p.H718H Q93100 KPBB_HUMAN phosphorylase kinase, beta 725 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) AACCCACCCACGAAATTCTTC 0.478000 27 69 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7811372 7811372 + Missense_Mutation SNP G G A rs151250046 TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr19:7811372G>A ENST00000315599.7 - 3 174 c.152C>T c.(151-153)aCg>aTg p.T51M CD209_ENST00000315591.8_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000601951.1_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000601256.1_Intron|CD209_ENST00000394161.5_Missense_Mutation_p.T51M|CD209_ENST00000394173.4_Missense_Mutation_p.T51M|CD209_ENST00000204801.8_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.T51M|CD209_ENST00000602261.1_Missense_Mutation_p.T51M NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 51 cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGCCAAGAGCGTGAAGGAGAG 0.647000 38 110 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47891524 47891524 + Missense_Mutation SNP G G C TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr3:47891524G>C ENST00000446256.2 + 23 3954 c.3382G>C c.(3382-3384)Gag>Cag p.E1128Q DHX30_ENST00000348968.4_Missense_Mutation_p.E1139Q|DHX30_ENST00000457607.1_Missense_Mutation_p.E1195Q|DHX30_ENST00000445061.1_Missense_Mutation_p.E1167Q NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 1167 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CGTACAGGAGGAGCACGGGCA 0.672000 OREG0015550 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 9 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100390944 100390944 + Silent SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr6:100390944G>A ENST00000281806.2 - 4 782 c.468C>T c.(466-468)ggC>ggT p.G156G MCHR2_ENST00000445970.1_Silent_p.G156G|MCHR2_ENST00000369212.1_Silent_p.G156G NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 156 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CTGCCCAAAGGCCCAAATTGA 0.468000 38 78 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577542 9577542 + Missense_Mutation SNP C C T rs148650284 TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr19:9577542C>T ENST00000301480.4 - 10 2294 c.2081G>A c.(2080-2082)cGa>cAa p.R694Q NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 694 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R694Q(1) 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 CATGGAATTTCGAAAGGAATT 0.378000 35 119 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41900459 41900459 + Missense_Mutation SNP C C G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr12:41900459C>G ENST00000298919.7 + 4 653 c.265C>G c.(265-267)Ctt>Gtt p.L89V PDZRN4_ENST00000402685.2_Missense_Mutation_p.L349V|PDZRN4_ENST00000539469.2_Missense_Mutation_p.L91V Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 349 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TCTGGCCAAGCTTCGTCCACC 0.488000 11 61 0 0 1 0 0 REPIN1 29803 broad.mit.edu 37 7 150069850 150069850 + Missense_Mutation SNP G G T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr7:150069850G>T ENST00000397281.2 + 4 2009 c.1520G>T c.(1519-1521)cGc>cTc p.R507L REPIN1_ENST00000425389.2_Missense_Mutation_p.R507L|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.R507L|REPIN1_ENST00000540729.1_Missense_Mutation_p.R507L|REPIN1_ENST00000489432.2_Missense_Mutation_p.R564L NM_013400.3 NP_037532.2 Q9BWE0 REPI1_HUMAN replication initiator 1 507 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) TCGCACCGGCGCATCCACACG 0.677000 29 110 4.87955e-14 5.54495e-14 1 1 0 SOHLH1 402381 broad.mit.edu 37 9 138590205 138590205 + Silent SNP G G A rs145506287 byFrequency TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr9:138590205G>A ENST00000298466.5 - 3 375 c.315C>T c.(313-315)agC>agT p.S105S SOHLH1_ENST00000425225.1_Silent_p.S105S NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 105 Helix-loop-helix motif. cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) GCCCCAGGGCGCTGGCAAGCC 0.657000 92 89 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24463673 24463673 + Silent SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr1:24463673C>T ENST00000270800.1 - 3 341 c.303G>A c.(301-303)gcG>gcA p.A101A NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 101 Fibronectin type-III 1. integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) ACCGGCCTCCCGCACTGACAG 0.612000 26 52 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83319382 83319382 + Missense_Mutation SNP A A G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chrX:83319382A>G ENST00000262752.2 - 22 2148 c.2141T>C c.(2140-2142)cTg>cCg p.L714P RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L714P NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 714 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CTTGTGAGTCAGGGCAGAGTA 0.418000 8 12 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143586601 143586601 + Missense_Mutation SNP G G T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr5:143586601G>T ENST00000507359.2 + 2 1415 c.324G>T c.(322-324)agG>agT p.R108S KCTD16_ENST00000512467.1_Missense_Mutation_p.R108S NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 108 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GACTGAAAAGGGAAGCTGAAT 0.468000 31 35 2.70662e-09 2.98524e-09 1 1 0 PIK3CA 5290 broad.mit.edu 37 3 178936094 178936094 + Missense_Mutation SNP C C G rs121913286 TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr3:178936094C>G ENST00000263967.3 + 10 1793 c.1636C>G c.(1636-1638)Cag>Gag p.Q546E NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 546 PI3K helical. Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.Q546K(89)|p.Q546E(12) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATCACTGAGCAGGAGAAAGA 0.358000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 21 0 0 1 0 0 AKR1C1 1645 broad.mit.edu 37 10 5008161 5008161 + Missense_Mutation SNP G G A rs1138575 TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr10:5008161G>A ENST00000380872.4 + 2 332 c.140G>A c.(139-141)cGc>cAc p.R47H AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000380859.1_Missense_Mutation_p.R49H|AKR1C1_ENST00000434459.2_Missense_Mutation_p.R47H NM_001353.5 NP_001344.2 aldo-keto reductase family 1, member C1 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1) 13 GCTGGCTTCCGCCATATTGAT 0.438000 21 48 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57861892 57861892 + Missense_Mutation SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr12:57861892G>A ENST00000228682.2 + 10 1284 c.1193G>A c.(1192-1194)cGt>cAt p.R398H GLI1_ENST00000546141.1_Missense_Mutation_p.R357H|GLI1_ENST00000543426.1_Missense_Mutation_p.R270H NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 398 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) AAACGGCACCGTGGGGATGGC 0.587000 4 117 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154625007 154625007 + Missense_Mutation SNP G G T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr4:154625007G>T ENST00000260010.6 + 1 2356 c.948G>T c.(946-948)agG>agT p.R316S NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 316 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) CAATCCGGAGGCTGCATATTC 0.338000 14 53 2.31682e-05 2.48231e-05 1 1 0 MIA2 117153 broad.mit.edu 37 14 39722040 39722040 + Silent SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr14:39722040G>A ENST00000280082.3 + 5 1855 c.1656G>A c.(1654-1656)tcG>tcA p.S552S RP11-407N17.3_ENST00000553728.1_Intron NM_054024.3 NP_473365.3 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 161 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) ATGAAAATTCGAAACCATCAG 0.378000 8 32 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204946828 204946828 + Silent SNP T T A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr1:204946828T>A ENST00000367172.4 + 17 2179 c.1851T>A c.(1849-1851)acT>acA p.T617T NFASC_ENST00000401399.1_Silent_p.T617T|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367171.4_Intron|NFASC_ENST00000338515.6_Silent_p.T617T|NFASC_ENST00000367169.4_Silent_p.T617T|NFASC_ENST00000367170.4_Silent_p.T617T|NFASC_ENST00000339876.6_Silent_p.T617T|NFASC_ENST00000338586.6_Silent_p.T617T O94856 NFASC_HUMAN neurofascin 617 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) CCACTCCAACTAACCGTTTGG 0.547000 17 28 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41682066 41682066 + Missense_Mutation SNP A A G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr4:41682066A>G ENST00000313860.7 + 19 2465 c.2411A>G c.(2410-2412)gAa>gGa p.E804G LIMCH1_ENST00000512820.1_Missense_Mutation_p.E816G|LIMCH1_ENST00000509277.1_Missense_Mutation_p.E637G|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E1188G|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E803G|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E649G|LIMCH1_ENST00000381753.4_Missense_Mutation_p.E637G|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E804G|LIMCH1_ENST00000511496.1_Missense_Mutation_p.E644G|LIMCH1_ENST00000514096.1_Missense_Mutation_p.E644G|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E657G|LIMCH1_ENST00000512632.1_Missense_Mutation_p.E727G NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 804 Glu-rich. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 GAAGAGTGGGAAAAGGCCCAA 0.448000 8 21 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55019286 55019286 + Missense_Mutation SNP C C A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr19:55019286C>A ENST00000301202.2 + 3 373 c.251C>A c.(250-252)gCc>gAc p.A84D LAIR2_ENST00000351841.2_Missense_Mutation_p.A84D NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 84 Ig-like C2-type. extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) GAGTCAGAGGCCAGATTCCAC 0.502000 6 100 5.9392e-07 6.45565e-07 1 1 0 CBLN4 140689 broad.mit.edu 37 20 54578992 54578992 + Missense_Mutation SNP G G T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr20:54578992G>T ENST00000064571.2 - 1 1536 c.236C>A c.(235-237)aCc>aAc p.T79N NM_080617.4 NP_542184.1 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 79 C1q. cell junction|extracellular region|synapse endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) CTCGTGGTTGGTGCTCCGCAC 0.652000 61 198 7.92265e-33 9.14152e-33 1 1 0 OR10R2 343406 broad.mit.edu 37 1 158449814 158449814 + Silent SNP A A G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr1:158449814A>G ENST00000368152.1 + 1 147 c.147A>G c.(145-147)gtA>gtG p.V49V RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) CCCTCTTTGTAGTTTTTCTTT 0.448000 46 43 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 4 53 0.00024832 0.000258667 1 1 0 ACTRT3 84517 broad.mit.edu 37 3 169487113 169487113 + Missense_Mutation SNP T T C TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr3:169487113T>C ENST00000330368.2 - 1 570 c.196A>G c.(196-198)Atc>Gtc p.I66V NM_032487.4 NP_115876.3 Q9BYD9 ARPM1_HUMAN actin-related protein T3 66 cytoplasm|cytoskeleton AGGTACCTGATGAACAGCGAG 0.701000 9 14 0 0 1 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209952737 209952737 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr1:209952737C>T ENST00000367023.1 + 7 801 c.538C>T c.(538-540)Cac>Tac p.H180Y TRAF3IP3_ENST00000010338.4_Intron|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000367024.1_Intron|TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000367026.3_Intron Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 0 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) AATTTATTACCACAAATTCTA 0.423000 15 15 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184764460 184764460 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr1:184764460C>T ENST00000367511.3 - 14 2631 c.2438G>A c.(2437-2439)gGg>gAg p.G813E FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 813 Glu-rich. 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 TGGGAGCTCCCCCTCCATGGG 0.657000 31 131 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50327154 50327154 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr3:50327154C>T ENST00000436390.1 - 9 1083 c.586G>A c.(586-588)Gct>Act p.A196T IFRD2_ENST00000429673.2_Missense_Mutation_p.A260T|IFRD2_ENST00000336089.4_Missense_Mutation_p.A362T|IFRD2_ENST00000417626.2_Missense_Mutation_p.A196T Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 260 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGGATGTCAGCGGCAGCCACG 0.617000 4 4 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26644262 26644262 + Missense_Mutation SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr2:26644262G>A ENST00000288710.2 + 3 424 c.350G>A c.(349-351)cGt>cAt p.R117H NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) GAGATAAAGCGTCAAAGGTAA 0.493000 7 26 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023395 18023395 + Silent SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr17:18023395C>T ENST00000205890.5 + 2 1619 c.1281C>T c.(1279-1281)caC>caT p.H427H NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 427 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CGTATGCCCACGCCATGGATG 0.667000 15 56 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131188677 131188677 + Silent SNP T T C rs145251245 TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr6:131188677T>C ENST00000337057.3 - 16 2833 c.2652A>G c.(2650-2652)tcA>tcG p.S884S EPB41L2_ENST00000524581.1_Silent_p.S262S|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000529208.1_Silent_p.S814S|EPB41L2_ENST00000368128.2_Silent_p.S884S|EPB41L2_ENST00000445890.2_Silent_p.S626S|EPB41L2_ENST00000528282.1_Silent_p.S626S|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_Silent_p.S814S|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_Silent_p.S731S|EPB41L2_ENST00000530757.1_Silent_p.S113S|EPB41L2_ENST00000531410.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 884 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTGTCCTTTGTGAGGCATCAG 0.408000 5 65 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40500443 40500443 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr17:40500443C>T ENST00000264657.5 - 2 404 c.92G>A c.(91-93)cGg>cAg p.R31Q STAT3_ENST00000585517.1_Missense_Mutation_p.R31Q|STAT3_ENST00000404395.3_Missense_Mutation_p.R31Q|STAT3_ENST00000588969.1_Missense_Mutation_p.R31Q|STAT3_ENST00000389272.3_Intron NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 31 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CAGAAACTGCCGCAGCTCCAT 0.483000 Hyperimmunoglobulin E Recurrent Infection Syndrome 27 49 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129221571 129221571 + Missense_Mutation SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr3:129221571G>A ENST00000296266.3 + 21 2738 c.2546G>A c.(2545-2547)cGc>cAc p.R849H IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000348417.2_Missense_Mutation_p.R798H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 798 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GACATCGCCCGCAAACTGGAC 0.597000 4 166 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 46000163 46000163 + Missense_Mutation SNP C C G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr21:46000163C>G ENST00000400372.1 - 1 318 c.293G>C c.(292-294)tGc>tCc p.C98S TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 98 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 gggcaggcagcacacaggctt 0.652000 60 89 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6534096 6534096 + Missense_Mutation SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr1:6534096G>A ENST00000377748.1 - 8 1296 c.799C>T c.(799-801)Cgc>Tgc p.R267C PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R190C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R269C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R190C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R190C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R227C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R190C|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.R267C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R259C|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R246C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R190C|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R190C NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 246 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|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CTCTCCCGGCGGCTCTGGGCG 0.701000 7 21 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53848775 53848775 + Missense_Mutation SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr19:53848775G>A ENST00000458035.1 + 3 149 c.32G>A c.(31-33)aGg>aAg p.R11K ZNF845_ENST00000595091.1_Missense_Mutation_p.R11K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 11 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TTGACATTCAGGGATGTGGCC 0.443000 45 101 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46320364 46320364 + Silent SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr21:46320364C>T ENST00000397850.2 - 8 1220 c.768G>A c.(766-768)acG>acA p.T256T ITGB2_ENST00000397854.3_Silent_p.T199T|ITGB2_ENST00000397857.1_Silent_p.T256T|ITGB2_ENST00000397852.1_Silent_p.T256T|ITGB2_ENST00000355153.4_Silent_p.T256T|ITGB2_ENST00000302347.5_Silent_p.T256T P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 256 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) CCAGCAGCCGCGTGACGTTGC 0.657000 41 63 0 0 1 0 0 BBS10 79738 broad.mit.edu 37 12 76741233 76741233 + Missense_Mutation SNP A A T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr12:76741233A>T ENST00000393262.3 - 2 615 c.532T>A c.(532-534)Ttt>Att p.F178I NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 178 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 CTTCCACAAAAGTATGCTTCT 0.353000 Bardet-Biedl syndrome 9 28 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7586119 7586119 + Missense_Mutation SNP C C T rs146684411 byFrequency TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr12:7586119C>T ENST00000313599.3 - 3 353 c.296G>A c.(295-297)cGt>cAt p.R99H CD163L1_ENST00000416109.2_Missense_Mutation_p.R99H|CD163L1_ENST00000396630.1_Missense_Mutation_p.R99H Q9NR16 C163B_HUMAN CD163 molecule-like 1 99 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.R99H(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 TTGTCCAAAACGAAACATGGC 0.478000 13 65 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916944 178916944 + Missense_Mutation SNP A A G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr3:178916944A>G ENST00000263967.3 + 2 488 c.331A>G c.(331-333)Aag>Gag p.K111E NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 111 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.K111E(13)|p.K111_L113delKIL(2) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCGTGAAGAAAAGATCCTCAA 0.333000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 17 42 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86374058 86374058 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr12:86374058C>T ENST00000604798.1 - 8 1650 c.446G>A c.(445-447)cGt>cAt p.R149H MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 149 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 p.R149H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CATGGCATCACGCCAGGAAGA 0.398000 24 71 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331778 107331778 + Silent SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr9:107331778G>A ENST00000335040.1 + 1 330 c.330G>A c.(328-330)acG>acA p.T110T NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TGGGGGCCACGGAGTGCATGA 0.502000 27 57 0 0 1 0 0 PTAFR 5724 broad.mit.edu 37 1 28477144 28477144 + Missense_Mutation SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr1:28477144G>A ENST00000373857.3 - 2 1023 c.389C>T c.(388-390)aCc>aTc p.T130I PTAFR_ENST00000539896.1_Missense_Mutation_p.T130I|PTAFR_ENST00000305392.3_Missense_Mutation_p.T130I NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 130 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) ACGCTTGCGGGTGTTGGCCTG 0.557000 66 73 0 0 1 0 0 KIAA1586 57691 broad.mit.edu 37 6 56918473 56918473 + Silent SNP T T C TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr6:56918473T>C ENST00000370733.4 + 4 1383 c.1176T>C c.(1174-1176)gcT>gcC p.A392A KIAA1586_ENST00000545356.1_Silent_p.A365A NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 392 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CTGATGGTGCTAATACAATCC 0.294000 3 48 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43403588 43403588 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr6:43403588C>T ENST00000244533.3 + 3 1938 c.1579C>T c.(1579-1581)Cgg>Tgg p.R527W ABCC10_ENST00000372530.4_Missense_Mutation_p.R570W NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 570 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GTCCTTGGACCGGATCCAGCT 0.567000 24 57 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4188979 4188979 + Missense_Mutation SNP C C A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr7:4188979C>A ENST00000404826.2 + 30 4648 c.4509C>A c.(4507-4509)agC>agA p.S1503R SDK1_ENST00000389531.3_Missense_Mutation_p.S1503R NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1503 Fibronectin type-III 9. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCCCGGGCAGCGACGGGGCCT 0.677000 3 40 0.115264 0.116822 1 1 0 CETN3 1070 broad.mit.edu 37 5 89701540 89701540 + Missense_Mutation SNP G G T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr5:89701540G>T ENST00000283122.3 - 3 354 c.230C>A c.(229-231)gCc>gAc p.A77D CETN3_ENST00000522842.1_Missense_Mutation_p.A77D|CETN3_ENST00000522565.1_Missense_Mutation_p.A77D|CETN3_ENST00000522083.1_Missense_Mutation_p.A77D|CETN3_ENST00000522864.1_Missense_Mutation_p.A77D NM_004365.2 NP_004356.2 O15182 CETN3_HUMAN centrin, EF-hand protein, 3 77 EF-hand 2. cell division|centrosome cycle|mitosis centriole calcium ion binding lung(3) 3 all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23) TTTCCCTGTGGCTTCTCTGTC 0.343000 12 26 6.40141e-05 6.76205e-05 1 1 0 MAN2C1 4123 broad.mit.edu 37 15 75655059 75655059 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr15:75655059C>T ENST00000565683.1 - 7 832 c.821G>A c.(820-822)aGg>aAg p.R274K MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R274K|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R274K NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 274 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 GGCACATTTCCTCACAGTCTC 0.617000 11 25 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78444669 78444669 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr12:78444669C>T ENST00000397909.2 + 11 2431 c.2258C>T c.(2257-2259)gCg>gTg p.A753V NAV3_ENST00000228327.6_Missense_Mutation_p.A753V|NAV3_ENST00000266692.7_Missense_Mutation_p.A753V|NAV3_ENST00000536525.2_Missense_Mutation_p.A753V Q8IVL0 NAV3_HUMAN neuron navigator 3 753 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 CGACTTCAGGCGGGAGATGCT 0.572000 HNSCC(70;0.22) 24 32 0 0 1 0 0 KLHL21 9903 broad.mit.edu 37 1 6653465 6653465 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr1:6653465C>T ENST00000377658.4 - 4 1805 c.1754G>A c.(1753-1755)gGc>gAc p.G585D KLHL21_ENST00000467612.1_Missense_Mutation_p.G218D|KLHL21_ENST00000377663.3_3'UTR NM_014851.2 NP_055666.2 Q9UJP4 KLH21_HUMAN kelch-like family member 21 585 anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2) 8 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) CCGGGGTCGGCCTGGGTCCAT 0.682000 5 165 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C C T rs149840192 TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr7:55221822C>T ENST00000275493.2 + 7 1043 c.866C>T c.(865-867)gCc>gTc p.A289V EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.A289D(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 59 68 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41900316 41900316 + Missense_Mutation SNP A A G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr12:41900316A>G ENST00000298919.7 + 4 510 c.122A>G c.(121-123)aAt>aGt p.N41S PDZRN4_ENST00000402685.2_Missense_Mutation_p.N301S|PDZRN4_ENST00000539469.2_Missense_Mutation_p.N43S Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 301 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GCTTTTCGCAATGCCAAGGAG 0.473000 10 48 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034027 52034027 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr19:52034027C>T ENST00000346477.3 - 3 682 c.614G>A c.(613-615)cGg>cAg p.R205Q SIGLEC6_ENST00000436458.1_Missense_Mutation_p.R169Q|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.R205Q|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R205Q|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R194Q|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R205Q NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 205 Ig-like C2-type 1. RP -> A (in Ref. 4; AAB70702). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GTCCTGGGGCCGTGGGGTGAT 0.637000 36 79 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 4 43 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6937659 6937659 + Splice_Site SNP G G A TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr19:6937659G>A ENST00000312053.4 + 20 2692 c.2655_splice c.e20+1 p.T885_splice EMR1_ENST00000381404.4_Splice_Site_p.T866_splice|EMR1_ENST00000381407.5_Splice_Site_p.T744_splice|EMR1_ENST00000450315.3_Splice_Site_p.T708_splice|EMR1_ENST00000250572.8_Splice_Site_p.T820_splice NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 885 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) CTTCCAAGACGGTGAGAGACT 0.582000 32 70 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31391362 31391362 + Silent SNP G G A rs148941060 TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr16:31391362G>A ENST00000268296.4 + 26 3157 c.3036G>A c.(3034-3036)gcG>gcA p.A1012A ITGAX_ENST00000562522.1_Silent_p.A1012A NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 1012 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 ACTTCCTGGCGCACATTCAGA 0.547000 9 39 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69688108 69688108 + Missense_Mutation SNP G G T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr4:69688108G>T ENST00000265403.7 + 3 1014 c.987G>T c.(985-987)aaG>aaT p.K329N UGT2B10_ENST00000458688.2_Missense_Mutation_p.K245N NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 329 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 CCCTTGCCAAGATCCCACAAA 0.413000 38 127 9.14704e-12 1.02392e-11 1 1 0 CLEC9A 283420 broad.mit.edu 37 12 10205329 10205329 + Missense_Mutation SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr12:10205329C>T ENST00000355819.1 + 4 656 c.43C>T c.(43-45)Cca>Tca p.P15S CLEC9A_ENST00000544751.1_3'UTR NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 15 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 GTGGGATAGCCCAGCACCAGA 0.418000 11 49 0 0 1 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586704 15586704 + Silent SNP C C T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr19:15586704C>T ENST00000292609.4 - 2 906 c.777G>A c.(775-777)acG>acA p.T259T PGLYRP2_ENST00000340880.4_Silent_p.T259T Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 259 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding p.T259T(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 GGTCCAAAAGCGTAAAGGTCC 0.617000 16 64 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717376 142717376 + Missense_Mutation SNP G G T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chrX:142717376G>T ENST00000381779.4 - 2 1774 c.1549C>A c.(1549-1551)Ctt>Att p.L517I SLITRK4_ENST00000356928.1_Missense_Mutation_p.L517I|SLITRK4_ENST00000338017.4_Missense_Mutation_p.L517I NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 517 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) AACTGATCAAGGACCCCACTG 0.483000 68 76 9.61844e-40 1.14505e-39 1 1 0 ZSCAN18 65982 broad.mit.edu 37 19 58601354 58601354 + Missense_Mutation SNP A A G TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr19:58601354A>G ENST00000240727.6 - 2 680 c.281T>C c.(280-282)cTg>cCg p.L94P ZSCAN18_ENST00000600404.1_Missense_Mutation_p.L150P|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.L94P|ZSCAN18_ENST00000421612.2_Intron NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 94 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GAACTGCTCCAGCACCAGCAG 0.677000 33 94 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838415 155838415 + Silent SNP G G T TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr3:155838415G>T ENST00000490337.1 + 1 79 c.15G>T c.(13-15)cgG>cgT p.R5R KCNAB1_ENST00000389636.5_Silent_p.R5R NM_172160.2 NP_751892.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 5 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TGGCAGCCCGGACAGGGGCAG 0.502000 46 117 4.37618e-36 5.12834e-36 1 1 0 DOCK5 80005 broad.mit.edu 37 8 25253106 25253108 + In_Frame_Del DEL CAA CAA - TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr8:25253106_25253108delCAA ENST00000276440.7 + 45 4619_4621 c.4575_4577delCAA c.(4573-4578)acc>ac p.TN1525del NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1525 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TGGAGCTGACCAACGAGAGGATC 0.562 8 107 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA GCA - rs142343457 byFrequency TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr8:28209226_28209228delGCA ENST00000344423.5 - 7 1148_1150 c.1017_1019delTGC c.(1015-1020)gcc>gc p.AA339del ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 339 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGTGCCTgcggcagcagcagcag 0.606 7 164 --- --- --- --- MAPK15 225689 broad.mit.edu 37 8 144800905 144800906 + Frame_Shift_Del DEL AG AG - TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr8:144800905_144800906delAG ENST00000395107.4 + 5 298_299 c.298_299delAG c.(298-300)cfs p.S100fs MAPK15_ENST00000395108.2_Intron|MAPK15_ENST00000338033.4_Intron|RP11-429J17.5_ENST00000527908.1_RNA Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 95 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TTGCCCCCCCAGCCCCCCACCC 0.698 2 4 --- --- --- --- CREB3 10488 broad.mit.edu 37 9 35733420 35733422 + In_Frame_Del DEL GAG GAG - TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr9:35733420_35733422delGAG ENST00000353704.2 + 4 811_813 c.373_375delGAG c.(373-375)del p.E126del CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 150 chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity p.E125delE(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) ACTGACAGATGAGGAGAAGAGTC 0.493 13 23 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546140 3546141 + RNA INS - - A rs74546027 TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr16:3546140_3546141insA ENST00000574423.2 + 0 111 gactccgtctcaaaaaaaaaaa 0.559 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578539 7578555 + Splice_Site DEL TGAGGGCAGGGGAGTAC TGAGGGCAGGGGAGTAC - rs137852792 TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr17:7578539_7578555delTGAGGGCAGGGGAGTAC ENST00000420246.2 - 5 508_523 c.375_splice c.e5-1 p.126_splice TP53_ENST00000413465.2_Splice_Site_p.126_splice|TP53_ENST00000359597.4_Splice_Site_p.126_splice|TP53_ENST00000445888.2_Splice_Site_p.126_splice|TP53_ENST00000455263.2_Splice_Site_p.126_splice|TP53_ENST00000269305.4_Splice_Site_p.126_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 126 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.?(39)|p.S127F(23)|p.L130F(16)|p.Y126*(14)|p.L130V(11)|p.Y126D(9)|p.S127Y(8)|p.N131del(8)|p.N131Y(8)|p.0?(8)|p.L130R(7)|p.S127C(7)|p.P128S(7)|p.S127T(6)|p.S127P(6)|p.Y126_K132delYSPALNK(6)|p.Y126N(6)|p.P128fs*42(5)|p.L130L(4)|p.Y126C(4)|p.L130H(3)|p.L37F(3)|p.Y126_S127insQPHH(3)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.A129fs*41(3)|p.Y33*(2)|p.L130fs*19(2)|p.S34C(2)|p.N131H(2)|p.N131fs*27(2)|p.N131fs*39(2)|p.Y126S(2)|p.Y126fs*44(2)|p.A129V(2)|p.A129T(2)|p.Y33D(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.T125_Y126insX(1)|p.Y126Y(1)|p.L130P(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.A129del(1)|p.S34F(1)|p.A36fs*41(1)|p.A129G(1)|p.A129D(1)|p.A36fs*20(1)|p.S34P(1)|p.S127fs*22(1)|p.P13fs*18(1)|p.L130fs*40(1)|p.S127fs*42(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.L130del(1)|p.P128A(1)|p.Y33_S34insQPHH(1)|p.P128del(1)|p.P128P(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) AACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGA 0.548 111 """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) 14 23 --- --- --- --- FAM83D 81610 broad.mit.edu 37 20 37555322 37555323 + In_Frame_Ins INS - - GCG TCGA-DU-A5TT-01A-11D-A289-08 TCGA-DU-A5TT-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx eca59413-85e3-423a-badd-9f2ff3204e0e 86f70085-f53b-486b-ad93-2ebd54e3df35 g.chr20:37555322_37555323insGCG ENST00000217429.4 + 1 368_369 c.327_328insGCG c.(325-330)ggcggc>ggGCGcggc p.109_110GG>GRG NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 79 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) GAGAGGAGGGCgcggcggcggc 0.718 4 4 --- --- --- ---