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 C2orf44 80304 broad.mit.edu 37 2 24255782 24255782 + Missense_Mutation SNP C C G rs34186689 TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr2:24255782C>G ENST00000295148.4 - 3 1910 c.1853G>C c.(1852-1854)aGa>aCa p.R618T C2orf44_ENST00000406895.3_Intron NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 618 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGCACCGCTCTTTTTTCAAC 0.368000 T ALK NSCLC 42 61 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10419589 10419589 + Missense_Mutation SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr17:10419589G>A ENST00000226207.5 - 4 369 c.275C>T c.(274-276)gCc>gTc p.A92V RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 92 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AGTCATCATGGCCATGTCCTC 0.488000 47 91 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55703084 55703084 + Silent SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr19:55703084G>A ENST00000376350.3 - 11 2305 c.2283C>T c.(2281-2283)ggC>ggT p.G761G PTPRH_ENST00000263434.5_Silent_p.G583G NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 761 apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) ACAGGAGGATGCCCACAAAGG 0.617000 15 34 0 0 1 0 0 ZSWIM7 125150 broad.mit.edu 37 17 15890610 15890610 + Missense_Mutation SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr17:15890610G>C ENST00000399277.1 - 3 268 c.171C>G c.(169-171)atC>atG p.I57M ZSWIM7_ENST00000486655.1_Missense_Mutation_p.I42M|ZSWIM7_ENST00000472495.1_Missense_Mutation_p.I57M|ZSWIM7_ENST00000399280.2_5'UTR NM_001042697.1|NM_001042698.1 NP_001036162.1|NP_001036163.1 Q19AV6 ZSWM7_HUMAN zinc finger, SWIM-type containing 7 57 DNA recombination|DNA repair nucleus zinc ion binding upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0827) TGGGTGATGAGATTAAGGTGA 0.458000 9 18 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55087350 55087350 + Silent SNP G G T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr19:55087350G>T ENST00000251377.3 + 7 1162 c.1029G>T c.(1027-1029)ctG>ctT p.L343L LILRA2_ENST00000251376.3_Silent_p.L343L|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.L331L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.L343L|LILRB1_ENST00000396321.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) TGACCCTGCTGTGTCAGTCAC 0.582000 8 23 0.000157383 0.000167603 1 1 0 DLG3 1741 broad.mit.edu 37 X 69712062 69712062 + Silent SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chrX:69712062G>A ENST00000194900.4 + 12 2021 c.1680G>A c.(1678-1680)gaG>gaA p.E560E DLG3_ENST00000374355.3_Silent_p.E205E|DLG3_ENST00000374360.3_Silent_p.E542E|DLG3_ENST00000542398.1_Silent_p.E59E Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 542 SH3. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) CTGATGATGAGTGGTGGCAGG 0.527000 11 17 0 0 1 0 0 TIMM50 92609 broad.mit.edu 37 19 39971377 39971377 + Missense_Mutation SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr19:39971377G>C ENST00000314349.4 + 1 326 c.193G>C c.(193-195)Ggt>Cgt p.G65R NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 41 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGATGCCTTTGGTCTCTCTCG 0.677000 5 20 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 4 62 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 906112 906112 + Missense_Mutation SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr1:906112C>T ENST00000379409.2 + 5 488 c.458C>T c.(457-459)tCc>tTc p.S153F PLEKHN1_ENST00000379410.3_Missense_Mutation_p.S153F|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.S153F Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 153 PH 1. central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CTCGAGGGGTCCCGAGAGCAC 0.667000 31 36 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40715858 40715858 + Missense_Mutation SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr12:40715858G>C ENST00000298910.7 + 36 5250 c.5192G>C c.(5191-5193)aGa>aCa p.R1731T NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1731 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CGCCCAAACAGAATGTATTGG 0.373000 30 43 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4458240 4458240 + Missense_Mutation SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr17:4458240C>T ENST00000254718.4 - 2 516 c.210G>A c.(208-210)atG>atA p.M70I MYBBP1A_ENST00000381556.2_Missense_Mutation_p.M70I Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 70 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 GGGCATATTTCATCTCGGACC 0.627000 16 16 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51367585 51367585 + Missense_Mutation SNP T T C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr3:51367585T>C ENST00000266037.9 + 33 3442 c.3419T>C c.(3418-3420)aTt>aCt p.I1140T NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1140 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCCGAGTTGATTGACAAGCTG 0.527000 3 2 0 0 1 0 0 SH2D3A 10045 broad.mit.edu 37 19 6760837 6760837 + Silent SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr19:6760837G>A ENST00000245908.6 - 3 500 c.231C>T c.(229-231)ctC>ctT p.L77L SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 77 SH2. JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 CCAGTTGAAAGAGGGCTGTGG 0.642000 37 70 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70805910 70805910 + Silent SNP T T C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr5:70805910T>C ENST00000358731.4 + 17 3254 c.2991T>C c.(2989-2991)aaT>aaC p.N997N BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 997 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CAAGGGAAAATGGCCCAGAGG 0.463000 18 42 0 0 1 0 0 NPRL3 8131 broad.mit.edu 37 16 138876 138876 + Missense_Mutation SNP T T A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr16:138876T>A ENST00000399953.3 - 12 1766 c.1364A>T c.(1363-1365)gAc>gTc p.D455V NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.D276V NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1 NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1 Q12980 NPRL3_HUMAN nitrogen permease regulator-like 3 (S. cerevisiae) 455 protein binding endometrium(1)|large_intestine(3)|ovary(2) 6 GAGGGTCATGTCATCGCTGCT 0.627000 8 22 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 13 13 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220479251 220479251 + Missense_Mutation SNP G G A rs143777035 by1000genomes TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr2:220479251G>A ENST00000456909.1 + 23 2942 c.2852G>A c.(2851-2853)cGg>cAg p.R951Q STK11IP_ENST00000295641.10_Missense_Mutation_p.R962Q Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 962 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCTACCTTCGGGCGTTCCTG 0.567000 17 23 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 21 0 0 1 0 0 CYC1 1537 broad.mit.edu 37 8 145150767 145150767 + Missense_Mutation SNP C C G TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr8:145150767C>G ENST00000318911.4 + 2 234 c.161C>G c.(160-162)tCc>tGc p.S54C NM_001916.3 NP_001907 P08574 CY1_HUMAN cytochrome c-1 54 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCTGGCCTTTCCCGAGGCCGG 0.657000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 40 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63520561 63520561 + Silent SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr11:63520561G>C ENST00000377819.5 + 6 3052 c.2898G>C c.(2896-2898)ctG>ctC p.L966L RTN3_ENST00000537981.1_Silent_p.L170L|RTN3_ENST00000356000.3_Silent_p.L189L|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Silent_p.L170L|RTN3_ENST00000339997.4_Silent_p.L947L|RTN3_ENST00000540798.1_Silent_p.L854L NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 966 Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 TCATGTGGCTGATGACCTATG 0.423000 61 128 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113440874 113440874 + Missense_Mutation SNP C C G TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr12:113440874C>G ENST00000392583.2 + 6 1353 c.1146C>G c.(1144-1146)ttC>ttG p.F382L OAS2_ENST00000342315.4_Missense_Mutation_p.F382L|RP1-71H24.1_ENST00000552784.1_RNA NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 382 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 AAAACTGCTTCCGACAATCAA 0.443000 43 323 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 4 135 0 0 1 0 0 IGLL5 100423062 broad.mit.edu 37 22 23237842 23237842 + Missense_Mutation SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr22:23237842G>C ENST00000532223.2 + 3 890 c.616G>C c.(616-618)Gag>Cag p.E206Q IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Missense_Mutation_p.E205Q B9A064 IGLL5_HUMAN immunoglobulin lambda-like polypeptide 5 C region (By similarity to lambda light- chain).|Ig-like C1-type. extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1) 7 GAGCACCGTGGAGAAGACAGT 0.612000 17 46 0 0 1 0 0 CYTH2 9266 broad.mit.edu 37 19 48982424 48982424 + Missense_Mutation SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr19:48982424G>C ENST00000427476.1 + 12 1460 c.1160G>C c.(1159-1161)aGa>aCa p.R387T CYTH2_ENST00000452733.2_Missense_Mutation_p.R386T NM_004228.6|NM_017457.5 NP_004219.3|NP_059431.1 Q99418 CYH2_HUMAN cytohesin 2 387 actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 CTGGCAGCGAGAAAGAAGCGG 0.622000 32 44 0 0 1 0 0 LRRC6 23639 broad.mit.edu 37 8 133634929 133634929 + Missense_Mutation SNP T T C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr8:133634929T>C ENST00000519595.1 - 7 940 c.842A>G c.(841-843)aAa>aGa p.K281R LRRC6_ENST00000250173.1_Missense_Mutation_p.K281R|LRRC6_ENST00000518642.1_Missense_Mutation_p.K281R Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 281 Poly-Lys. cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTTCTTCTTTTTTTCACTTAA 0.378000 13 184 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525627 176525627 + Silent SNP C C A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr1:176525627C>A ENST00000367662.3 + 2 1333 c.169C>A c.(169-171)Cga>Aga p.R57R PAPPA2_ENST00000367661.3_Silent_p.R57R NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 57 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGCCAAGGTTCGAAGACCCAG 0.567000 15 49 3.27435e-08 3.67804e-08 1 1 0 LILRA2 11027 broad.mit.edu 37 19 55087354 55087354 + Missense_Mutation SNP C C A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr19:55087354C>A ENST00000251377.3 + 7 1166 c.1033C>A c.(1033-1035)Cag>Aag p.Q345K LILRA2_ENST00000251376.3_Missense_Mutation_p.Q345K|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.Q333K|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.Q345K|LILRB1_ENST00000396321.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CCTGCTGTGTCAGTCACGGGG 0.587000 8 23 0.000157383 0.000167603 1 1 0 ADD3 120 broad.mit.edu 37 10 111872625 111872625 + Missense_Mutation SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr10:111872625G>A ENST00000277900.8 + 3 651 c.286G>A c.(286-288)Gat>Aat p.D96N ADD3_ENST00000360162.3_Missense_Mutation_p.D96N|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Missense_Mutation_p.D96N NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 96 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GCAGATTGCAGATTACATCAT 0.393000 44 71 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90660232 90660232 + Silent SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr6:90660232G>A ENST00000257749.4 - 7 2300 c.1593C>T c.(1591-1593)gaC>gaT p.D531D BACH2_ENST00000343122.3_Silent_p.D531D|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.D531D|RP3-512E2.2_ENST00000413986.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 531 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCCCGCTCCCGTCCTCCGCGT 0.622000 13 25 0 0 1 0 0 IGLL5 100423062 broad.mit.edu 37 22 23237640 23237640 + Silent SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr22:23237640G>C ENST00000532223.2 + 3 688 c.414G>C c.(412-414)ctG>ctC p.L138L IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Silent_p.L137L B9A064 IGLL5_HUMAN immunoglobulin lambda-like polypeptide 5 C region (By similarity to lambda light- chain).|Ig-like C1-type. extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1) 7 TAGTGTGTCTGATCAGTGACT 0.602000 8 20 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285560 16285560 + Silent SNP T T C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr17:16285560T>C ENST00000302182.3 + 2 731 c.339T>C c.(337-339)ccT>ccC p.P113P UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P NM_001281720.1|NM_018955.3 NP_001268649.1|NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 113 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCTCCCGACCAGC 0.557000 5 70 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24174967 24174967 + Silent SNP G G A rs146868469 byFrequency TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr6:24174967G>A ENST00000378454.3 - 10 1723 c.1422C>T c.(1420-1422)gcC>gcT p.A474A DCDC2_ENST00000378450.3_Silent_p.A227A NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 474 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) TCTAAGCCACGGCAGCATAGT 0.363000 16 49 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195395440 195395440 + RNA SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr3:195395440G>A ENST00000445430.1 + 0 847 CAGCACCAGCGACGGCACGGC 0.627000 4 43 0 0 1 0 0 GLRA4 441509 broad.mit.edu 37 X 102968473 102968473 + Missense_Mutation SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chrX:102968473C>T ENST00000372617.4 - 8 1478 c.1058G>A c.(1057-1059)cGa>cAa p.R353Q TMEM31_ENST00000319560.6_Intron NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 353 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CTGCCTTCTTCGAAGTCGTAT 0.517000 15 50 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 48996748 48996748 + Silent SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr4:48996748C>T ENST00000226432.4 + 5 807 c.624C>T c.(622-624)ctC>ctT p.L208L CWH43_ENST00000513409.1_Silent_p.L181L NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 208 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TTGTGTTCCTCACCCACTGGG 0.542000 36 69 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11118744 11118744 + Silent SNP G G T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr16:11118744G>T ENST00000409790.1 + 13 1733 c.1503G>T c.(1501-1503)gtG>gtT p.V501V CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Silent_p.V483V NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 501 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCCTGTTCGTGCTCTGCCTCC 0.547000 6 6 8.12818e-05 8.88681e-05 1 1 0 MAP7D1 55700 broad.mit.edu 37 1 36645617 36645617 + Missense_Mutation SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr1:36645617G>A ENST00000316156.4 + 15 2803 c.2350G>A c.(2350-2352)Gag>Aag p.E784K MAP7D1_ENST00000373151.2_Missense_Mutation_p.E822K|MAP7D1_ENST00000373148.4_Missense_Mutation_p.E358K|MAP7D1_ENST00000373150.4_Missense_Mutation_p.E789K Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 822 cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GCCCTTTGCAGAGGCAGAAGC 0.592000 9 17 0 0 1 0 0 RBM15B 29890 broad.mit.edu 37 3 51429187 51429187 + Silent SNP G G T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr3:51429187G>T ENST00000323686.4 + 1 457 c.357G>T c.(355-357)ccG>ccT p.P119P NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 119 interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CGCCGCCTCCGCCACCGCCTG 0.791000 4 3 0.00024832 0.00025775 1 1 0 KYNU 8942 broad.mit.edu 37 2 143746426 143746426 + Silent SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr2:143746426C>T ENST00000375773.2 + 11 1014 c.915C>T c.(913-915)ttC>ttT p.F305F KYNU_ENST00000264170.4_Intron|KYNU_ENST00000409512.1_Intron NM_001032998.1 NP_001028170.1 Q16719 KYNU_HUMAN kynureninase 305 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity p.F305L(1) large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) GATCGGAGTTCTTTAATTAGG 0.388000 21 33 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48494724 48494724 + Missense_Mutation SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr7:48494724C>T ENST00000435803.1 + 43 12680 c.12656C>T c.(12655-12657)aCg>aTg p.T4219M ABCA13_ENST00000544596.1_5'UTR NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4219 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTCCGCCGCACGCTGCGCGCC 0.706000 5 4 0 0 1 0 0 RSPO2 340419 broad.mit.edu 37 8 108970402 108970402 + Silent SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr8:108970402C>T ENST00000276659.5 - 5 1142 c.522G>A c.(520-522)cgG>cgA p.R174R RSPO2_ENST00000378439.2_Silent_p.R110R|RSPO2_ENST00000517939.1_Silent_p.R107R|RSPO2_ENST00000517781.1_Silent_p.R110R NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 174 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) TAACAATTTGCCGTGTTCTGG 0.438000 5 156 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109740254 109740254 + Silent SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr1:109740254C>T ENST00000369939.3 + 16 2463 c.2280C>T c.(2278-2280)gtC>gtT p.V760V KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.V673V NM_020775.4 NP_065826 Q6UXG2 K1324_HUMAN KIAA1324 760 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CACAGCCTGTCAGCCTTGCTG 0.527000 13 13 0 0 1 0 0 CCDC90B 60492 broad.mit.edu 37 11 82989872 82989872 + Splice_Site SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr11:82989872C>T ENST00000529689.1 - 3 655 c.221G>A c.(220-222)gGa>gAa p.G74E CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000455220.2_Splice_Site_p.G65E|CCDC90B_ENST00000529073.1_Splice_Site_p.G74E|CCDC90B_ENST00000529611.1_5'UTR Q9GZT6 CC90B_HUMAN coiled-coil domain containing 90B 74 integral to membrane|mitochondrion kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Acute lymphoblastic leukemia(157;0.103) TTTGTCAAATCCTGTAGGCAG 0.323000 26 53 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72175947 72175947 + Missense_Mutation SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr15:72175947G>C ENST00000356056.5 - 28 5858 c.5386C>G c.(5386-5388)Cag>Gag p.Q1796E MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1867E|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1777E|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1796E NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1796 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCTGGAAACTGATGAGCTGGA 0.428000 3 48 0 0 1 0 0 GOLGA8M 653720 broad.mit.edu 37 15 23261850 23261850 + Missense_Mutation SNP C C A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr15:23261850C>A ENST00000450802.3 + 12 1060 c.962C>A c.(961-963)gCg>gAg p.A321E NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1 NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1 p.A321E(2) GTGGCAGGAGCGCTCCAGGCC 0.587000 7 32 0.00307968 0.00315667 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 131817813 131817813 + Missense_Mutation SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr7:131817813C>T ENST00000359827.3 - 31 6546 c.5584G>A c.(5584-5586)Gag>Aag p.E1862K PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1862K Q9HCM2 PLXA4_HUMAN plexin A4 1862 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CTTACCTCCTCGCTGTATTTG 0.522000 31 39 0 0 1 0 0 POU4F1 5457 broad.mit.edu 37 13 79175932 79175932 + Missense_Mutation SNP A A G TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr13:79175932A>G ENST00000377208.5 - 2 1089 c.878T>C c.(877-879)cTg>cCg p.L293P RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 293 POU-specific. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GAGGTTGGCCAGCGCCGAGCC 0.667000 3 10 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196658681 196658681 + Missense_Mutation SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr1:196658681G>A ENST00000367429.4 + 8 1336 c.1096G>A c.(1096-1098)Gga>Aga p.G366R CFH_ENST00000359637.2_Missense_Mutation_p.G302R|CFH_ENST00000439155.2_Missense_Mutation_p.G366R NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 366 Sushi 6. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GACTCCGTCAGGAAGTTACTG 0.398000 4 84 0 0 1 0 0 FAM69C 125704 broad.mit.edu 37 18 72103918 72103918 + Missense_Mutation SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr18:72103918C>T ENST00000343998.6 - 4 1086 c.1078G>A c.(1078-1080)Gcg>Acg p.A360T FAM69C_ENST00000400291.2_Missense_Mutation_p.A61T NM_001044369.2 NP_001037834.2 Q0P6D2 FA69C_HUMAN family with sequence similarity 69, member C 360 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(2)|ovary(2) 5 TTGAGAGGCGCGGAAAACCAA 0.537000 7 18 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130383928 130383928 + Missense_Mutation SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr3:130383928G>A ENST00000358511.6 + 35 6615 c.6584G>A c.(6583-6585)cGa>cAa p.R2195Q COL6A6_ENST00000453409.2_Missense_Mutation_p.R2195Q NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 2195 Nonhelical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CAGCCCCCACGACCATTCCGA 0.403000 6 7 0 0 1 0 0 MPP1 4354 broad.mit.edu 37 X 154014676 154014676 + Splice_Site SNP C C G TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chrX:154014676C>G ENST00000413259.3 - 7 783 c.e7-1 MPP1_ENST00000369534.3_Splice_Site|MPP1_ENST00000462825.1_Splice_Site|MPP1_ENST00000393531.1_Intron NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCATGAACATCTAAAAAGAAG 0.468000 15 248 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67075184 67075184 + Missense_Mutation SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr11:67075184G>A ENST00000308127.4 + 7 945 c.767G>A c.(766-768)cGg>cAg p.R256Q SSH3_ENST00000532181.1_Intron|SSH3_ENST00000308298.7_Missense_Mutation_p.R256Q|SSH3_ENST00000376757.5_Missense_Mutation_p.R256Q NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 256 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GAGTCTCTGCGGCCTCCCAGC 0.652000 12 14 0 0 1 0 0 EIF2B4 8890 broad.mit.edu 37 2 27591263 27591263 + Missense_Mutation SNP T T G TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr2:27591263T>G ENST00000493344.2 - 5 941 c.629A>C c.(628-630)cAa>cCa p.Q210P EIF2B4_ENST00000451130.2_Missense_Mutation_p.Q209P|EIF2B4_ENST00000445933.2_Missense_Mutation_p.Q188P|EIF2B4_ENST00000347454.4_Missense_Mutation_p.Q189P Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 189 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGAGAGTTTTGTCTGCTGTA 0.413000 5 58 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46932392 46932392 + Missense_Mutation SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr22:46932392G>A ENST00000262738.3 - 1 675 c.676C>T c.(676-678)Cgg>Tgg p.R226W CELSR1_ENST00000395964.1_Missense_Mutation_p.R226W NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 226 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ggccccgcccgggcTTCGGGC 0.746000 2 0 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926407 157926407 + Silent SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr7:157926407G>A ENST00000389413.3 - 9 1621 c.1518C>T c.(1516-1518)tcC>tcT p.S506S PTPRN2_ENST00000404321.2_Silent_p.S529S|PTPRN2_ENST00000389418.4_Silent_p.S506S|PTPRN2_ENST00000389416.4_Silent_p.S489S|PTPRN2_ENST00000409483.1_Silent_p.S468S NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 506 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CCTCTTCCTCGGAAGGCTGGA 0.637000 23 31 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78516175 78516175 + Missense_Mutation SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr12:78516175G>C ENST00000397909.2 + 16 4378 c.4205G>C c.(4204-4206)aGa>aCa p.R1402T NAV3_ENST00000228327.6_Missense_Mutation_p.R1402T|NAV3_ENST00000536525.2_Missense_Mutation_p.R1402T|NAV3_ENST00000266692.7_Intron Q8IVL0 NAV3_HUMAN neuron navigator 3 1402 Ser-rich. 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 CTGCTCATGAGAACGGGTAGT 0.557000 HNSCC(70;0.22) 33 110 0 0 1 0 0 PHYHD1 254295 broad.mit.edu 37 9 131702920 131702920 + Missense_Mutation SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr9:131702920C>T ENST00000372592.3 + 11 1562 c.629C>T c.(628-630)gCg>gTg p.A210V PHYHD1_ENST00000353176.5_Missense_Mutation_p.A189V|PHYHD1_ENST00000421063.2_Missense_Mutation_p.A189V|PHYHD1_ENST00000308941.5_Missense_Mutation_p.R203C|PHYHD1_ENST00000487504.1_3'UTR NM_001100876.1 NP_001094346.1 phytanoyl-CoA dioxygenase domain containing 1 central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3) 10 GTTGGCTCAGCGCCTGGTACC 0.602000 22 31 0 0 1 0 0 SGSM3 27352 broad.mit.edu 37 22 40803506 40803506 + Missense_Mutation SNP G G T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr22:40803506G>T ENST00000248929.9 + 13 1647 c.1458G>T c.(1456-1458)aaG>aaT p.K486N SGSM3_ENST00000454798.2_Missense_Mutation_p.K419N NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 486 SH3. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 GCCGAGCCAAGGCCCTGCTGG 0.642000 8 19 0.0581538 0.0581538 1 1 0 ARNT 405 broad.mit.edu 37 1 150830885 150830885 + Missense_Mutation SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr1:150830885G>C ENST00000358595.5 - 2 277 c.77C>G c.(76-78)tCt>tGt p.S26C ARNT_ENST00000505755.1_Missense_Mutation_p.S26C|ARNT_ENST00000515192.1_Missense_Mutation_p.S17C|ARNT_ENST00000354396.2_Missense_Mutation_p.S26C NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 26 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TCCAGGTCCAGAGTTTCCAGA 0.438000 T ETV6 AML 17 16 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17369593 17369593 + Silent SNP G G A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr7:17369593G>A ENST00000242057.4 + 5 1111 c.468G>A c.(466-468)caG>caA p.Q156Q NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 156 PAS 1. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TCATACATCAGAGTGTATATG 0.348000 23 57 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 4 74 0 0 1 0 0 RFX7 64864 broad.mit.edu 37 15 56434995 56434995 + Nonsense_Mutation SNP C C A TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr15:56434995C>A ENST00000423270.1 - 4 381 c.382G>T c.(382-384)Gaa>Taa p.E128* RFX7_ENST00000559447.2_Nonsense_Mutation_p.E31*|RFX7_ENST00000422057.1_Nonsense_Mutation_p.E31*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.E128* NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 31 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TCATAGACTTCCTGTTTGGGC 0.393000 6 14 3.59834e-05 3.98735e-05 1 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 15 0 0 1 0 0 TMEM98 26022 broad.mit.edu 37 17 31263362 31263362 + Missense_Mutation SNP C C G TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr17:31263362C>G ENST00000579849.1 + 6 741 c.310C>G c.(310-312)Ctg>Gtg p.L104V TMEM98_ENST00000394642.3_Missense_Mutation_p.L104V|TMEM98_ENST00000578289.1_Missense_Mutation_p.L104V NM_015544.2 NP_056359.2 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 104 L -> P (in Ref. 2; CAB56018). endoplasmic reticulum|integral to membrane kidney(2)|large_intestine(1) 3 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) TTGTCACACTCTGACAGAGAA 0.582000 19 42 0 0 1 0 0 KLF6 1316 broad.mit.edu 37 10 3821774 3821774 + Missense_Mutation SNP G G C TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr10:3821774G>C ENST00000497571.1 - 4 1069 c.809C>G c.(808-810)tCc>tGc p.S270C KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Missense_Mutation_p.P229A NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 270 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) GTCAGACCTGGAAAAACACCT 0.587000 19 19 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692346 116692346 + Missense_Mutation SNP C C T TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr11:116692346C>T ENST00000357780.3 - 3 542 c.428G>A c.(427-429)cGc>cAc p.R143H NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GACCTGGGTGCGCAGCTGGTC 0.687000 7 26 0 0 1 0 0 GJD2 57369 broad.mit.edu 37 15 35044991 35044991 + Silent SNP A A G TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr15:35044991A>G ENST00000290374.4 - 2 1130 c.654T>C c.(652-654)taT>taC p.Y218Y NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 218 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) CATAGAGAAAATATTGGCCAA 0.493000 3 30 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)gaafs p.E1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.E1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 7 58 --- --- --- --- COL1A2 1278 broad.mit.edu 37 7 94047132 94047132 + Frame_Shift_Del DEL A A - TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr7:94047132delA ENST00000297268.6 + 32 2431 c.1960delA c.(1960-1962)aagfs p.K654fs NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 654 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ACCTGGAGGCAAGGGAGAAAA 0.522 HNSCC(75;0.22) 2 4 --- --- --- --- GLIPR1L1 256710 broad.mit.edu 37 12 75737490 75737492 + In_Frame_Del DEL AGC AGC - TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr12:75737490_75737492delAGC ENST00000312442.2 + 2 238_240 c.192_194delAGC c.(190-195)ttagca>tta p.A65del GLIPR1L1_ENST00000378695.4_In_Frame_Del_p.A65del|CAPS2_ENST00000442339.2_Intron NM_152779.2 NP_689992.1 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 65 extracellular region endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 ATAAAGGTTTAGCAAAGATGGCT 0.276 13 133 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671097 25671098 + Frame_Shift_Ins INS - - T rs140090397 by1000genomes TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chr13:25671097_25671098insT ENST00000281589.3 + 1 798_799 c.761_762insT c.(760-765)aaggagfs p.KE254fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 254 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ATGAATGGAAAGGAGCTCAATG 0.401 12 109 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44923050 44923050 + Frame_Shift_Del DEL T T - TCGA-XF-A9SH-01A-11D-A391-08 TCGA-XF-A9SH-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2a5b418-607c-4ffb-b285-674e29956852 ee895a66-5d54-4d24-af0d-2b416d92b7ed g.chrX:44923050delT ENST00000377967.4 + 16 1952 c.1911delT c.(1909-1911)tctfs p.S637fs KDM6A_ENST00000382899.4_Frame_Shift_Del_p.S644fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.S592fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.S558fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 637 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ACCAACTATCTAACTCCACTC 0.453 """D, N, F, S""" """renal, oesophageal SCC, MM""" 7 5 --- --- --- ---