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 ADPRM 56985 broad.mit.edu 37 17 10608309 10608309 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:10608309C>T ENST00000379774.4 + 2 157 c.66C>T c.(64-66)gtC>gtT p.V22V ADPRM_ENST00000609540.1_Silent_p.V22V NM_020233.4 NP_064618.3 ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent CCTTTGGCGTCATCGCAGATG 0.423000 8 48 0 0 0.307466 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119120886 119120886 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:119120886G>A ENST00000264245.4 + 10 1819 c.1287G>A c.(1285-1287)ccG>ccA p.P429P NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 429 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GGCCCCCACCGGAACAGCTGA 0.617000 15 46 0 0 0.479597 0 0 CNTLN 54875 broad.mit.edu 37 9 17466040 17466040 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr9:17466040G>T ENST00000380647.3 + 22 3677 c.3593G>T c.(3592-3594)aGa>aTa p.R1198I CNTLN_ENST00000425824.1_Missense_Mutation_p.R1198I|CNTLN_ENST00000262360.5_Missense_Mutation_p.R1198I Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 1198 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) CTAAAGCAAAGACTTAACGTT 0.303000 27 27 4.74835e-14 5.68465e-14 0.750413 1 0 MED26 9441 broad.mit.edu 37 19 16686879 16686879 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:16686879C>T ENST00000263390.3 - 3 2024 c.1762G>A c.(1762-1764)Gac>Aac p.D588N CTD-3222D19.2_ENST00000409035.1_Intron NM_004831.3 NP_004822.2 O95402 MED26_HUMAN mediator complex subunit 26 588 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 8 AAGCGCCCGTCGTCGCCGTGC 0.612000 45 6 0 0 0.870114 0 0 ZNF25 219749 broad.mit.edu 37 10 38241661 38241661 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr10:38241661C>T ENST00000302609.7 - 6 977 c.765G>A c.(763-765)gaG>gaA p.E255E ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) CATAGGGTTTCTCCCCTGTGT 0.443000 36 96 0 0 0.827153 0 0 MACF1 23499 broad.mit.edu 37 1 39802313 39802313 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:39802313C>A ENST00000564288.1 + 37 10830 c.10053C>A c.(10051-10053)ttC>ttA p.F3351L MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.F3356L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.F1791L|MACF1_ENST00000567887.1_Missense_Mutation_p.F3388L|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3356 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGAGCCCTTCAGAGCAACTC 0.418000 12 10 9.31168e-06 1.00613e-05 0.435327 1 0 TERT 7015 broad.mit.edu 37 5 1294371 1294371 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:1294371G>A ENST00000310581.5 - 2 687 c.630C>T c.(628-630)gcC>gcT p.A210A TERT_ENST00000508104.2_Silent_p.A210A|TERT_ENST00000334602.6_Silent_p.A210A|TERT_ENST00000296820.5_Silent_p.A210A NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 210 RNA-interacting domain 1. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGGGGACCCCGGCCTCCCTGA 0.746000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 4 1 0 0 0.150653 0 0 LRRK1 79705 broad.mit.edu 37 15 101595287 101595287 + Silent SNP T T A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr15:101595287T>A ENST00000284395.5 + 28 4582 c.4182T>A c.(4180-4182)ctT>ctA p.L1394L LRRK1_ENST00000388948.3_Silent_p.L1397L|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1397 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGTGGTCCCTTGACGTCAAGG 0.532000 22 59 0 0 0.717897 0 0 SHC4 399694 broad.mit.edu 37 15 49118194 49118194 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr15:49118194G>C ENST00000332408.4 - 12 2295 c.1867C>G c.(1867-1869)Cca>Gca p.P623A SHC4_ENST00000396535.3_Missense_Mutation_p.P380A|SHC4_ENST00000537958.1_Missense_Mutation_p.P337A NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 623 intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) AAAAGTGCTGGATTATTATCT 0.373000 47 127 0 0 0.870114 0 0 DDI2 84301 broad.mit.edu 37 1 15978267 15978267 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:15978267C>G ENST00000480945.1 + 8 1231 c.1060C>G c.(1060-1062)Cct>Gct p.P354A NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 354 proteolysis aspartic-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CACCTTTCTTCCTGAGGGAGA 0.502000 9 50 0 0 0.387290 0 0 PLXNB3 5365 broad.mit.edu 37 X 153038980 153038980 + Nonsense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:153038980C>T ENST00000538966.1 + 20 3431 c.3160C>T c.(3160-3162)Cga>Tga p.R1054* PLXNB3_ENST00000538776.1_Nonsense_Mutation_p.R684*|PLXNB3_ENST00000538282.1_Nonsense_Mutation_p.R641*|PLXNB3_ENST00000361971.5_Nonsense_Mutation_p.R1031* NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1031 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CAGGGGTGGGCGACTGATCCG 0.687000 36 28 0 0 0.847076 0 0 PIDD 55367 broad.mit.edu 37 11 800221 800221 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:800221C>T ENST00000347755.5 - 14 2325 c.2184G>A c.(2182-2184)gtG>gtA p.V728V PIDD_ENST00000411829.2_Silent_p.V711V NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 728 apoptosis|signal transduction cytoplasm|nucleus death receptor binding CCCGCACAGGCACCGCGCCAC 0.687000 8 18 0 0 0.361761 0 0 KLHL1 57626 broad.mit.edu 37 13 70314576 70314576 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:70314576G>A ENST00000377844.4 - 8 2511 c.1752C>T c.(1750-1752)gcC>gcT p.A584A KLHL1_ENST00000545028.1_Silent_p.A391A NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 584 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TTGACATACTGGCTACAAATG 0.403000 31 42 0 0 0.827153 0 0 TMEM175 84286 broad.mit.edu 37 4 951684 951684 + Silent SNP G G T rs141810982 byFrequency TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:951684G>T ENST00000264771.4 + 11 1100 c.915G>T c.(913-915)gcG>gcT p.A305A TMEM175_ENST00000508204.1_Silent_p.A223A|TMEM175_ENST00000515740.1_Silent_p.A189A NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 305 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCCTGAGTGCGACCGGGCCGC 0.622000 46 47 2.43468e-25 3.16757e-25 0.870114 1 0 PJA1 64219 broad.mit.edu 37 X 68382762 68382762 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:68382762G>A ENST00000361478.1 - 2 697 c.320C>T c.(319-321)tCg>tTg p.S107L PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374571.4_Missense_Mutation_p.S52L|PJA1_ENST00000374583.1_Missense_Mutation_p.S107L NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 107 zinc ion binding p.S107L(1) endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 TCTGCTACCCGAAGCTCTGTA 0.522000 20 99 0 0 0.624587 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133930751 133930751 + Silent SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr10:133930751G>T ENST00000298622.4 + 2 444 c.306G>T c.(304-306)ctG>ctT p.L102L NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGGCTGAGCTGCTCAGGGTCA 0.602000 3 47 0.115264 0.116175 0.115264 1 0 MYT1 4661 broad.mit.edu 37 20 62871155 62871155 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:62871155A>G ENST00000536311.1 + 22 3581 c.3217A>G c.(3217-3219)Aac>Gac p.N1073D MYT1_ENST00000328439.1_Missense_Mutation_p.N1046D Q01538 MYT1_HUMAN myelin transcription factor 1 1046 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CGAGGAGGAGAACAAGCTCAT 0.572000 88 73 0 0 0.870114 0 0 BIRC8 112401 broad.mit.edu 37 19 53793189 53793189 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:53793189C>G ENST00000426466.1 - 1 1686 c.439G>C c.(439-441)Gag>Cag p.E147Q NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 147 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) ACAAGAACCTCAAGCGTTTTA 0.398000 31 70 0 0 0.796494 0 0 MYO18B 84700 broad.mit.edu 37 22 26219621 26219621 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:26219621C>A ENST00000335473.7 + 13 2921 c.2671C>A c.(2671-2673)Ctc>Atc p.L891I MYO18B_ENST00000407587.2_Missense_Mutation_p.L891I|MYO18B_ENST00000536101.1_Missense_Mutation_p.L891I NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 891 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCGATGGGGCCTCGAGGATGA 0.597000 103 112 3.45943e-77 4.7684e-77 0.870114 1 0 WDR6 11180 broad.mit.edu 37 3 49051677 49051677 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:49051677C>T ENST00000395474.3 + 3 2987 c.2707C>T c.(2707-2709)Ccc>Tcc p.P903S WDR6_ENST00000448293.1_Missense_Mutation_p.P822S|WDR6_ENST00000608424.1_Missense_Mutation_p.P873S|WDR6_ENST00000415265.2_Missense_Mutation_p.P321S NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 873 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) ACTTGACCAGCCCGGCCTTGG 0.577000 OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 29 0 0 0.740014 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 37 0 0 0.387290 0 0 SAMD10 140700 broad.mit.edu 37 20 62608657 62608657 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:62608657C>G ENST00000369886.3 - 2 368 c.194G>C c.(193-195)tGg>tCg p.W65S SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron NM_080621.4 NP_542188.1 Q9BYL1 SAM10_HUMAN sterile alpha motif domain containing 10 65 kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 7 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGAGTCATGCCACGTGAGGCT 0.667000 98 80 0 0 0.870114 0 0 LTF 4057 broad.mit.edu 37 3 46484956 46484956 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:46484956T>C ENST00000231751.4 - 13 1926 c.1631A>G c.(1630-1632)tAc>tGc p.Y544C LTF_ENST00000417439.1_Missense_Mutation_p.Y542C|LTF_ENST00000426532.2_Missense_Mutation_p.Y500C NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 544 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GTAGCCGTAGTATCTCTCGTT 0.542000 45 150 0 0 0.870114 0 0 BCAR1 9564 broad.mit.edu 37 16 75276878 75276878 + Silent SNP G G A rs5005335 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:75276878G>A ENST00000546196.1 - 2 1688 c.36C>T c.(34-36)gaC>gaT p.D12D BCAR1_ENST00000418647.3_Silent_p.D87D|BCAR1_ENST00000538440.2_Silent_p.D41D|BCAR1_ENST00000393420.6_Silent_p.D41D|BCAR1_ENST00000162330.5_Silent_p.D41D|BCAR1_ENST00000542031.2_Silent_p.D39D|BCAR1_ENST00000420641.3_Silent_p.D59D|BCAR1_ENST00000393422.2_Silent_p.D59D|BCAR1_ENST00000535626.2_Silent_p.D41D P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 41 SH3. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) GCCACCAGCCGTCCAGGCCCT 0.622000 4 30 0 0 0.248553 0 0 ZNF831 128611 broad.mit.edu 37 20 57768368 57768368 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:57768368C>T ENST00000371030.2 + 1 2294 c.2294C>T c.(2293-2295)cCt>cTt p.P765L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 765 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCCCCAGCACCTGGCCCCCTC 0.647000 5 9 0 0 0.217242 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764038 77764038 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:77764038G>T ENST00000521891.2 + 10 5329 c.4881G>T c.(4879-4881)gaG>gaT p.E1627D ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1601D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1582D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1582D NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1582 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAAAGCTGGAGCCCAGTGGTC 0.517000 HNSCC(33;0.089) 15 20 1.67942e-08 1.90334e-08 0.539581 1 0 UBBP4 23666 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 3 61 0 0 0.217242 0 0 GRK5 2869 broad.mit.edu 37 10 121189924 121189924 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr10:121189924G>A ENST00000392870.2 + 7 900 c.571G>A c.(571-573)Gtg>Atg p.V191M GRK5_ENST00000369108.3_Missense_Mutation_p.V86M NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 191 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) GCAGTATCGAGTGCTAGGAAA 0.458000 46 54 0 0 0.870114 0 0 PRKAA2 5563 broad.mit.edu 37 1 57169954 57169954 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:57169954C>A ENST00000371244.4 + 7 1165 c.1099C>A c.(1099-1101)Cca>Aca p.P367T NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 367 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GAAACCTCATCCAGAAAGGAT 0.468000 36 20 1.96642e-18 2.41075e-18 0.827153 1 0 LMX1A 4009 broad.mit.edu 37 1 165175152 165175152 + Nonsense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:165175152G>A ENST00000342310.3 - 8 1319 c.937C>T c.(937-939)Cga>Tga p.R313* LMX1A_ENST00000294816.2_Nonsense_Mutation_p.R313*|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Nonsense_Mutation_p.R313* NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 313 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) AGACCCTGTCGGAAGGGATCT 0.582000 18 56 0 0 0.592651 0 0 ZNF536 9745 broad.mit.edu 37 19 31039827 31039827 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:31039827G>A ENST00000355537.3 + 4 3448 c.3301G>A c.(3301-3303)Gac>Aac p.D1101N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CGGCCACGTGGACCCTGCATT 0.542000 21 41 0 0 0.681144 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924441 45924441 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:45924441T>C ENST00000395629.2 + 5 1423 c.1093T>C c.(1093-1095)Tcc>Ccc p.S365P MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.S375P Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 375 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) CAGCGCCCTGTCCTATGACTC 0.672000 5 3 0 0 0.248553 0 0 LILRB1 10859 broad.mit.edu 37 19 55148021 55148021 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:55148021C>T ENST00000396331.1 + 15 2081 c.1724C>T c.(1723-1725)gCc>gTc p.A575V LILRB1_ENST00000396315.1_Missense_Mutation_p.A577V|LILRB1_ENST00000396321.2_Missense_Mutation_p.A575V|LILRB1_ENST00000396317.1_Missense_Mutation_p.A559V|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.A576V|LILRB1_ENST00000427581.2_Missense_Mutation_p.A626V|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.A577V|LILRB1_ENST00000434867.2_Missense_Mutation_p.A575V|LILRB1_ENST00000396327.3_Missense_Mutation_p.A576V|LILRB1_ENST00000418536.2_Missense_Mutation_p.A559V NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 575 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AGAGAAATGGCCTCTCCTCCT 0.582000 HNSCC(37;0.09) 28 31 0 0 0.750413 0 0 FMO2 2327 broad.mit.edu 37 1 171162520 171162520 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:171162520C>T ENST00000441535.1 + 3 296 c.179C>T c.(178-180)aCc>aTc p.T60I FMO2_ENST00000209929.7_Missense_Mutation_p.T60I|FMO2_ENST00000529935.1_3'UTR NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 60 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCTGTCGTTACCAACACCAGC 0.348000 75 62 0 0 0.870114 0 0 PSMD10 5716 broad.mit.edu 37 X 107331994 107331994 + Silent SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:107331994A>G ENST00000217958.3 - 2 298 c.201T>C c.(199-201)aaT>aaC p.N67N PSMD10_ENST00000372296.1_Silent_p.N67N|PSMD10_ENST00000372295.1_Silent_p.N67N|PSMD10_ENST00000361815.5_Silent_p.N67N|PSMD10_ENST00000340200.5_Intron NM_002814.3|NM_170750.2 NP_002805.1|NP_736606.1 O75832 PSD10_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 67 Interaction with RB1.|Interaction with RELA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 CGTCTTTATCATTCACTGGCA 0.413000 212 193 0 0 0.870114 0 0 CNN1 1264 broad.mit.edu 37 19 11660487 11660487 + Silent SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:11660487C>A ENST00000592923.1 + 8 1198 c.621C>A c.(619-621)ggC>ggA p.G207G CNN1_ENST00000544952.1_Silent_p.G237G|CNN1_ENST00000535659.2_Silent_p.G207G|CNN1_ENST00000252456.2_Silent_p.G257G P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 257 actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 CGCAGCGGGGCATGACGGTGT 0.652000 28 9 7.76418e-22 9.94908e-22 0.693898 1 0 BAGE2 85319 broad.mit.edu 37 21 11097575 11097575 + RNA SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr21:11097575C>A ENST00000470054.1 - 0 294 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gctccaacctccagctcacca 0.542000 11 79 9.31168e-06 1.00613e-05 0.435327 1 0 CDH13 1012 broad.mit.edu 37 16 82891976 82891976 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:82891976C>T ENST00000566620.1 + 2 345 c.55C>T c.(55-57)Cta>Tta p.L19L CDH13_ENST00000567445.1_Silent_p.L19L|CDH13_ENST00000428848.3_Silent_p.L19L|CDH13_ENST00000431540.3_Silent_p.L19L|CDH13_ENST00000268613.10_Silent_p.L66L|CDH13_ENST00000446376.2_Silent_p.L19L|CDH13_ENST00000565636.1_Silent_p.L19L NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 19 adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GGTGCTGCTGCTAACATCTGC 0.418000 35 28 0 0 0.804634 0 0 NDC80 10403 broad.mit.edu 37 18 2575029 2575029 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr18:2575029C>T ENST00000261597.4 + 3 325 c.143C>T c.(142-144)cCg>cTg p.P48L NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 48 Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 ATAAACAAACCGACATCTGAA 0.303000 10 12 0 0 0.500413 0 0 TTN 7273 broad.mit.edu 37 2 179649056 179649056 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:179649056A>G ENST00000589042.1 - 16 2740 c.2516T>C c.(2515-2517)aTt>aCt p.I839T TTN_ENST00000359218.5_Missense_Mutation_p.I793T|TTN_ENST00000460472.2_Missense_Mutation_p.I793T|TTN_ENST00000342992.6_Missense_Mutation_p.I839T|TTN_ENST00000342175.6_Missense_Mutation_p.I793T|TTN_ENST00000591111.1_Missense_Mutation_p.I839T|TTN_ENST00000360870.5_Missense_Mutation_p.I839T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 839 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAATGTGGCAATAGCACTACC 0.468000 27 30 0 0 0.779181 0 0 ZNF205 7755 broad.mit.edu 37 16 3168975 3168975 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:3168975G>T ENST00000382192.3 + 6 759 c.554G>T c.(553-555)cGg>cTg p.R185L RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R185L|RP11-473M20.14_ENST00000575139.1_RNA NM_001278158.1|NM_003456.2 NP_001265087.1|NP_003447.2 O95201 ZN205_HUMAN zinc finger protein 205 185 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 GGCTCCAGCCGGCAGGCAGGA 0.667000 31 62 3.09479e-21 3.92622e-21 0.827153 1 0 GUCY1A3 2982 broad.mit.edu 37 4 156631721 156631721 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:156631721C>T ENST00000296518.7 + 6 613 c.404C>T c.(403-405)tCt>tTt p.S135F GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S135F|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S135F|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S135F|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S135F|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S135F Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 135 VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1). blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ATCAAAGAATCTCTTGGTGAA 0.383000 30 25 0 0 0.812448 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595303 140595303 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:140595303C>G ENST00000341948.4 + 1 1795 c.1608C>G c.(1606-1608)caC>caG p.H536Q NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 536 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTCAGACCACGGCTCCCCGG 0.677000 3 36 0 0 0.115264 0 0 KDM5B 10765 broad.mit.edu 37 1 202709880 202709880 + Silent SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:202709880T>C ENST00000367265.3 - 20 4170 c.3006A>G c.(3004-3006)gcA>gcG p.A1002A KDM5B_ENST00000367264.2_Silent_p.A1038A NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1002 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TGGGCAGATATGCAGGGATCT 0.443000 11 47 0 0 0.435327 0 0 UBXN11 91544 broad.mit.edu 37 1 26610895 26610895 + Nonsense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:26610895G>A ENST00000314675.7 - 7 650 c.571C>T c.(571-573)Cag>Tag p.Q191* UBXN11_ENST00000374223.1_Nonsense_Mutation_p.Q68*|UBXN11_ENST00000374222.1_Nonsense_Mutation_p.Q311*|UBXN11_ENST00000374217.2_Nonsense_Mutation_p.Q278*|UBXN11_ENST00000357089.4_Nonsense_Mutation_p.Q278*|UBXN11_ENST00000374221.3_Nonsense_Mutation_p.Q311* NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 311 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 TGCATCAGCTGCCTGCCCACC 0.627000 14 33 0 0 0.520397 0 0 COL4A5 1287 broad.mit.edu 37 X 107938638 107938638 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:107938638C>A ENST00000328300.6 + 52 5207 c.4963C>A c.(4963-4965)Ctg>Atg p.L1655M COL4A5_ENST00000361603.2_Missense_Mutation_p.L1649M NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1649 Collagen IV NC1. Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CAGCTTTTGGCTGGCAACTGT 0.463000 Alport syndrome with Diffuse Leiomyomatosis 54 68 4.02486e-48 5.40179e-48 0.870114 1 0 FMO3 2328 broad.mit.edu 37 1 171073019 171073019 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:171073019G>A ENST00000367755.4 + 3 337 c.226G>A c.(226-228)Gat>Aat p.D76N FMO3_ENST00000392085.2_Missense_Mutation_p.D76N|FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Missense_Mutation_p.D56N NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 76 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCCATTTCCCGATGACTTCCC 0.423000 31 20 0 0 0.760397 0 0 C10orf88 80007 broad.mit.edu 37 10 124692098 124692098 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr10:124692098C>A ENST00000481909.1 - 6 1407 c.1183G>T c.(1183-1185)Gat>Tat p.D395Y C10orf88_ENST00000368891.5_5'UTR NM_024942.3 NP_079218.2 Q9H8K7 CJ088_HUMAN chromosome 10 open reading frame 88 395 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TCAATGTAATCCATAAGTTTC 0.353000 6 24 2.0095e-06 2.21828e-06 0.248553 1 0 C2CD3 26005 broad.mit.edu 37 11 73817441 73817441 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:73817441C>A ENST00000334126.7 - 13 2286 c.2060G>T c.(2059-2061)gGt>gTt p.G687V C2CD3_ENST00000313663.7_Missense_Mutation_p.G687V Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 687 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TGGAGACTGACCATTTTCTTG 0.438000 30 87 2.32173e-10 2.66686e-10 0.804634 1 0 TPO 7173 broad.mit.edu 37 2 1488451 1488451 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:1488451C>A ENST00000345913.4 + 9 1513 c.1422C>A c.(1420-1422)gaC>gaA p.D474E TPO_ENST00000337415.3_Missense_Mutation_p.D474E|TPO_ENST00000382201.3_Missense_Mutation_p.D474E|TPO_ENST00000349624.3_Missense_Mutation_p.D301E|TPO_ENST00000329066.4_Missense_Mutation_p.D474E|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.D474E|TPO_ENST00000382198.1_Missense_Mutation_p.D301E NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 474 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AAGGCTATGACTCCACCGCCA 0.602000 28 32 7.26314e-15 8.77773e-15 0.717897 1 0 TBCCD1 55171 broad.mit.edu 37 3 186276258 186276258 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:186276258C>T ENST00000424280.1 - 3 919 c.440G>A c.(439-441)aGa>aAa p.R147K TBCCD1_ENST00000446782.1_Missense_Mutation_p.R51K|TBCCD1_ENST00000338733.5_Missense_Mutation_p.R147K NM_001134415.1 NP_001127887.1 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 147 cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding p.R147I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) AGATTTGTTTCTGGGACTGGG 0.408000 19 81 0 0 0.624587 0 0 STAB1 23166 broad.mit.edu 37 3 52538860 52538860 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:52538860C>A ENST00000321725.6 + 12 1421 c.1345C>A c.(1345-1347)Cag>Aag p.Q449K NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 449 FAS1 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCTGGCCGGGCAGGAGATCAC 0.607000 11 32 0.000673444 0.000706701 0.361761 1 0 MLLT1 4298 broad.mit.edu 37 19 6230639 6230639 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:6230639T>C ENST00000252674.7 - 4 525 c.362A>G c.(361-363)aAg>aGg p.K121R NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 121 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 GAAGGTGAGCTTCTCGCAGCG 0.647000 T MLL AL 83 31 0 0 0.870114 0 0 SFTPB 6439 broad.mit.edu 37 2 85894867 85894867 + Nonsense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:85894867C>A ENST00000342375.3 - 3 265 c.130G>T c.(130-132)Gag>Tag p.E44* SFTPB_ENST00000393822.3_Nonsense_Mutation_p.E56*|SFTPB_ENST00000519937.2_Nonsense_Mutation_p.E44*|SFTPB_ENST00000409383.1_Nonsense_Mutation_p.E56* NM_000542.3|NM_198843.2 NP_000533.3|NP_942140.2 P07988 PSPB_HUMAN surfactant protein B 44 Saposin A-type. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 AATGCTTGCTCCAGGCTTTGG 0.592000 50 35 4.88482e-21 6.16649e-21 0.870114 1 0 ITGAM 3684 broad.mit.edu 37 16 31335844 31335844 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:31335844G>T ENST00000544665.3 + 17 2201 c.2130G>T c.(2128-2130)caG>caT p.Q710H ITGAM_ENST00000287497.8_Missense_Mutation_p.Q709H NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 709 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GGCTGACCCAGACTTGTGAGA 0.602000 8 9 0.0692343 0.070619 0.361761 1 0 RBM14 10432 broad.mit.edu 37 11 66384255 66384255 + Missense_Mutation SNP T T A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:66384255T>A ENST00000310137.4 + 1 203 c.64T>A c.(64-66)Ttt>Att p.F22I RBM14_ENST00000393979.3_Missense_Mutation_p.F22I|RBM14_ENST00000409738.4_Missense_Mutation_p.F22I|RBM14_ENST00000409372.1_Missense_Mutation_p.F22I|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.F22I|RBM14-RBM4_ENST00000500635.2_Missense_Mutation_p.F22I|RBM4_ENST00000514361.3_Missense_Mutation_p.F22I|RBM14_ENST00000443702.1_Missense_Mutation_p.F22I|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM4_ENST00000503028.2_De_novo_Start_InFrame NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 22 RRM 1. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 GGCAGCCCTCTTTGCGCCCTA 0.647000 4 17 0 0 0.184627 0 0 GRIK3 2899 broad.mit.edu 37 1 37270762 37270762 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:37270762C>T ENST00000373091.3 - 15 2407 c.2391G>A c.(2389-2391)gaG>gaA p.E797E GRIK3_ENST00000373093.4_Silent_p.E797E NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 797 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GCCACCACTTCTCCTTCATGA 0.602000 20 62 0 0 0.624587 0 0 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr9:137328351C>T ENST00000540193.1 + 9 1912 c.989C>T c.(988-990)tCc>tTc p.S330F RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607000 17 55 0 0 0.539581 0 0 MYO3A 53904 broad.mit.edu 37 10 26463335 26463335 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr10:26463335C>T ENST00000265944.5 + 30 4308 c.4142C>T c.(4141-4143)aCa>aTa p.T1381I MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1381 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AGGATTGTCACAACACCAACA 0.398000 44 66 0 0 0.870114 0 0 STX5 6811 broad.mit.edu 37 11 62592798 62592798 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:62592798G>C ENST00000294179.3 - 7 707 c.554C>G c.(553-555)tCt>tGt p.S185C STX5_ENST00000377897.4_Missense_Mutation_p.S185C|STX5_ENST00000394690.1_Missense_Mutation_p.S131C|STX5_ENST00000541317.1_Missense_Mutation_p.S89C NM_001244666.1|NM_003164.4 NP_001231595.1|NP_003155.2 Q13190 STX5_HUMAN syntaxin 5 185 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 ATTGGACATAGAAGCCAGTTT 0.493000 234 155 0 0 0.870114 0 0 DHX34 9704 broad.mit.edu 37 19 47876898 47876898 + Missense_Mutation SNP C C T rs141177029 byFrequency TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:47876898C>T ENST00000328771.4 + 9 2354 c.2005C>T c.(2005-2007)Cgc>Tgc p.R669C NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 669 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GTGGTGCCGCCGCCGGGGCAT 0.657000 17 30 0 0 0.667858 0 0 ZNF324B 388569 broad.mit.edu 37 19 58965138 58965138 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:58965138G>A ENST00000336614.4 + 2 177 c.70G>A c.(70-72)Gcc>Acc p.A24T ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000594214.1_Missense_Mutation_p.A24T|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A24T NM_207395.2 NP_997278.2 Q6AW86 Z324B_HUMAN zinc finger protein 324B 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGCGCAGAGGGCCCTGTACCG 0.567000 39 58 0 0 0.870114 0 0 H6PD 9563 broad.mit.edu 37 1 9324741 9324741 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:9324741G>T ENST00000377403.2 + 5 2491 c.2189G>T c.(2188-2190)aGc>aTc p.S730I H6PD_ENST00000602477.1_Missense_Mutation_p.S741I NM_001282587.1|NM_004285.3 NP_001269516.1|NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 730 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CGCCGCATGAGCCTTAGCCTG 0.652000 8 27 3.27435e-08 3.67824e-08 0.457914 1 0 PDZD2 23037 broad.mit.edu 37 5 32059421 32059421 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:32059421C>G ENST00000438447.1 + 13 2665 c.2277C>G c.(2275-2277)agC>agG p.S759R PDZD2_ENST00000282493.3_Missense_Mutation_p.S759R O15018 PDZD2_HUMAN PDZ domain containing 2 759 PDZ 4. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACATTCACAGCCTTGCTCCAG 0.468000 16 15 0 0 0.557998 0 0 TRAV3 28690 broad.mit.edu 37 14 22192095 22192095 + RNA SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr14:22192095G>A ENST00000390425.2 + 0 136 GGGCTGGAAAGGACCCCCCCA 0.582000 47 49 0 0 0.870114 0 0 HDAC6 10013 broad.mit.edu 37 X 48682372 48682372 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:48682372A>G ENST00000334136.5 + 27 3522 c.3344A>G c.(3343-3345)cAt>cGt p.H1115R HDAC6_ENST00000444343.2_Missense_Mutation_p.H1129R|HDAC6_ENST00000376619.2_Missense_Mutation_p.H1115R Q9UBN7 HDAC6_HUMAN histone deacetylase 6 1115 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) TGGTGTCCCCATTTGGTGGCA 0.517000 34 86 0 0 0.834066 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520917 33520917 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:33520917G>T ENST00000297307.5 - 1 495 c.410C>A c.(409-411)tCt>tAt p.S137Y NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 137 DUF6 1. integral to membrane GACGGTGGAAGAACCTTTGCG 0.587000 32 136 1.48734e-19 1.84112e-19 0.864702 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 36 0 0 0.387290 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40629667 40629667 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:40629667A>G ENST00000264649.6 + 6 565 c.434A>G c.(433-435)cAt>cGt p.H145R ATP6V0A1_ENST00000343619.4_Intron|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Intron|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000585525.1_Intron NM_001130020.1|NM_005177.3 NP_001123492.1|NP_005168.2 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 141 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) GCTGAATTGCATCATCAGCAG 0.443000 39 36 0 0 0.870114 0 0 ZNF761 388561 broad.mit.edu 37 19 53958820 53958820 + RNA SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:53958820T>C ENST00000454407.1 + 0 1512 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GAGAGAAACCTTACAAGTGTA 0.408000 4 277 0 0 0.248553 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20610169 20610169 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:20610169C>A ENST00000202677.7 - 10 1078 c.1071G>T c.(1069-1071)caG>caT p.Q357H NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GGCTTTTGTCCTGCTCCGTGG 0.537000 104 111 2.27795e-59 3.10629e-59 0.870114 1 0 OGT 8473 broad.mit.edu 37 X 70775117 70775117 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:70775117A>G ENST00000373719.3 + 7 1023 c.806A>G c.(805-807)tAc>tGc p.Y269C OGT_ENST00000373701.3_Missense_Mutation_p.Y259C NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 269 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) GCTTGTGTATACTATGAGCAA 0.483000 64 72 0 0 0.870114 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348423 30348423 + Silent SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:30348423G>C ENST00000327564.7 + 1 400 c.339G>C c.(337-339)ctG>ctC p.L113L LRRC37B_ENST00000341671.7_Silent_p.L86L|LRRC37B_ENST00000584368.1_Silent_p.L98L|LRRC37B_ENST00000394713.3_Silent_p.L86L|LRRC37B_ENST00000543378.2_Silent_p.L4L Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 86 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TGTCAGCCCTGCCTCAGGAAC 0.592000 16 57 0 0 0.500413 0 0 GABBR1 2550 broad.mit.edu 37 6 29598366 29598366 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:29598366G>A ENST00000377034.4 - 4 679 c.344C>T c.(343-345)aCg>aTg p.T115M GABBR1_ENST00000377016.4_Intron|GABBR1_ENST00000376977.3_Missense_Mutation_p.T115M NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 115 Sushi 2. gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.T115M(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GTCCCCACCCGTCAGGAAAAC 0.562000 14 33 0 0 0.520397 0 0 NRXN2 9379 broad.mit.edu 37 11 64374714 64374714 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:64374714G>A ENST00000265459.6 - 23 5554 c.5093C>T c.(5092-5094)aCg>aTg p.T1698M NRXN2_ENST00000377551.1_Missense_Mutation_p.T1698M|NRXN2_ENST00000377559.3_Missense_Mutation_p.T1628M|NRXN2_ENST00000301894.2_Missense_Mutation_p.T652M|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1691M NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1698 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CTTGCTGGGCGTCTTGGGGGC 0.637000 9 31 0 0 0.361761 0 0 SYT16 83851 broad.mit.edu 37 14 62547819 62547819 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr14:62547819G>C ENST00000430451.2 + 4 1458 c.1261G>C c.(1261-1263)Gcc>Ccc p.A421P RP11-355I22.5_ENST00000553990.1_lincRNA NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 421 C2 1. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GGTCACCTTTGCCAAGCTGGA 0.567000 12 10 0 0 0.500413 0 0 NIM1K 167359 broad.mit.edu 37 5 43245942 43245942 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:43245942G>A ENST00000512796.1 + 2 1564 c.65G>A c.(64-66)cGc>cAc p.R22H NIM1_ENST00000326035.2_Missense_Mutation_p.R22H Q8IY84 NIM1_HUMAN 22 ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.R22H(1) TGGGATCGGCGCGACAGTGTA 0.597000 75 57 0 0 0.870114 0 0 CCDC28A 25901 broad.mit.edu 37 6 139097341 139097341 + Silent SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:139097341C>A ENST00000332797.6 + 2 509 c.354C>A c.(352-354)gcC>gcA p.A118A NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 118 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) AAAAAAATGCCATTCCAGTGA 0.388000 40 10 2.77807e-22 3.59598e-22 0.864702 1 0 CAPN5 726 broad.mit.edu 37 11 76796098 76796098 + Splice_Site SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:76796098G>T ENST00000278559.3 + 2 354 c.e2+1 CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Splice_Site|CAPN5_ENST00000456580.2_Splice_Site NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity p.?(1) NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 GCGACCCAAGGTCAGTGTCTG 0.677000 6 28 8.12818e-05 8.6362e-05 0.248553 1 0 CEP290 80184 broad.mit.edu 37 12 88486515 88486515 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:88486515C>A ENST00000552810.1 - 29 3747 c.3404G>T c.(3403-3405)aGg>aTg p.R1135M CEP290_ENST00000309041.7_Missense_Mutation_p.R1137M|CEP290_ENST00000397838.3_Missense_Mutation_p.R195M|CEP290_ENST00000547691.2_Missense_Mutation_p.R195M NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1135 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 AATCCGTTGCCTATCAGCATC 0.368000 28 59 1.16021e-09 1.32077e-09 0.717897 1 0 ZNF780A 284323 broad.mit.edu 37 19 40580973 40580973 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:40580973T>C ENST00000450241.2 - 6 1585 c.1274A>G c.(1273-1275)cAa>cGa p.Q425R ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q459R|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q460R|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q460R|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q459R O75290 Z780A_HUMAN zinc finger protein 780A 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TTCAATAAGTTGGCAATGATA 0.403000 68 104 0 0 0.870114 0 0 SRGAP2 23380 broad.mit.edu 37 1 206626557 206626557 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:206626557A>G ENST00000414007.1 + 16 1771 c.1771A>G c.(1771-1773)Atc>Gtc p.I591V SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.I36V O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 731 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) ATGTGAGCCCATCGAGGCCAT 0.522000 2 2 0 0 0.115264 0 0 SLC29A1 2030 broad.mit.edu 37 6 44197137 44197137 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:44197137G>C ENST00000393841.1 + 4 531 c.40G>C c.(40-42)Gtc>Ctc p.V14L SLC29A1_ENST00000371713.1_Missense_Mutation_p.V14L|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V93L|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V14L|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V14L|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V14L|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V14L|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V14L|SLC29A1_ENST00000427851.2_Missense_Mutation_p.V14L|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V14L NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 14 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) ATACAAAGCTGTCTGGCTTAT 0.562000 34 17 0 0 0.847076 0 0 IFT172 26160 broad.mit.edu 37 2 27672643 27672643 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:27672643C>A ENST00000260570.3 - 37 4178 c.4075G>T c.(4075-4077)Gac>Tac p.D1359Y NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1359 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TTGACAAGGTCCAGATTCAGA 0.522000 47 44 5.57489e-27 7.32782e-27 0.870114 1 0 MDM4 4194 broad.mit.edu 37 1 204511994 204511994 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:204511994G>A ENST00000367182.3 + 8 756 c.594G>A c.(592-594)ctG>ctA p.L198L MDM4_ENST00000454264.2_Silent_p.L198L|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000367183.3_Intron NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 198 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) TAGCTGGCCTGCCTTGGTGGT 0.388000 A """GBM, bladder, retinoblastoma""" 19 39 0 0 0.639603 0 0 TSPAN10 83882 broad.mit.edu 37 17 79612041 79612041 + RNA SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:79612041C>T ENST00000328585.4 + 0 150 TSPAN10_ENST00000572675.1_RNA NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AGAAGCCCCTCTCTGTGCACA 0.647000 10 28 0 0 0.411799 0 0 ATMIN 23300 broad.mit.edu 37 16 81076953 81076953 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:81076953C>G ENST00000566488.1 + 3 1345 c.382C>G c.(382-384)Ctt>Gtt p.L128V ATMIN_ENST00000564241.1_Missense_Mutation_p.L128V|ATMIN_ENST00000299575.4_Missense_Mutation_p.L284V|ATMIN_ENST00000539819.1_3'UTR O43313 ATMIN_HUMAN ATM interactor 284 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 CAAGCAGACTCTTACAACACC 0.433000 33 59 0 0 0.779181 0 0 USP24 23358 broad.mit.edu 37 1 55562240 55562240 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:55562240C>A ENST00000294383.6 - 50 5991 c.5992G>T c.(5992-5994)Gac>Tac p.D1998Y USP24_ENST00000407756.1_Missense_Mutation_p.D1838Y NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1998 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TCATTTAGGTCAAATTCTTCT 0.323000 28 11 1.36615e-20 1.70768e-20 0.769981 1 0 PCDH1 5097 broad.mit.edu 37 5 141233975 141233975 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:141233975T>C ENST00000287008.3 - 5 3493 c.3346A>G c.(3346-3348)Atg>Gtg p.M1116V PCDH1_ENST00000503492.1_3'UTR NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GTGCCTGTCATGGCGACATCA 0.592000 10 39 0 0 0.457914 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77323595 77323595 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr15:77323595C>T ENST00000558012.1 + 10 1206 c.717C>T c.(715-717)tcC>tcT p.S239S PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000559295.1_Silent_p.S239S|PSTPIP1_ENST00000267939.5_Silent_p.S238S|PSTPIP1_ENST00000379595.3_Silent_p.S239S NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 239 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 ACCAGCTCTCCATGCAGTGTG 0.617000 65 100 0 0 0.870114 0 0 FAM58A 92002 broad.mit.edu 37 X 152858159 152858159 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:152858159G>T ENST00000406277.2 - 6 558 c.456C>A c.(454-456)aaC>aaA p.N152K FAM58A_ENST00000370175.4_5'UTR NM_001130997.1|NM_152274.3 NP_001124469.1|NP_689487.2 Q8N1B3 FA58A_HUMAN family with sequence similarity 58, member A 154 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGTTCAGCCAGTTCTGGAGGG 0.612000 7 21 0.0581538 0.0595551 0.335167 1 0 EXTL1 2134 broad.mit.edu 37 1 26349272 26349272 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:26349272C>T ENST00000374280.3 + 1 1002 c.135C>T c.(133-135)ggC>ggT p.G45G NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 45 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTTCCCAAGGCTGGCCCCGCT 0.652000 7 9 0 0 0.307466 0 0 GPSM2 29899 broad.mit.edu 37 1 109439511 109439511 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:109439511G>T ENST00000406462.2 + 4 855 c.82G>T c.(82-84)Gcc>Tcc p.A28S GPSM2_ENST00000264126.3_Missense_Mutation_p.A28S|AKNAD1_ENST00000357393.4_Intron P81274 GPSM2_HUMAN G-protein signaling modulator 2 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3) 14 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) CCTAGAGCTGGCCTTGGAAGG 0.418000 40 135 2.79147e-13 3.31081e-13 0.870114 1 0 FSHR 2492 broad.mit.edu 37 2 49189908 49189908 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:49189908G>A ENST00000406846.2 - 10 2171 c.2052C>T c.(2050-2052)taC>taT p.Y684Y FSHR_ENST00000304421.4_Silent_p.Y658Y|FSHR_ENST00000541117.1_Silent_p.Y420Y|FSHR_ENST00000346173.3_Silent_p.Y622Y NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 684 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GGACAAGTATGTAAGTGGAAC 0.418000 Gonadal Dysgenesis, 46 XX 20 54 0 0 0.667858 0 0 FRMD7 90167 broad.mit.edu 37 X 131233527 131233527 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:131233527C>T ENST00000298542.4 - 3 349 c.174G>A c.(172-174)gaG>gaA p.E58E FRMD7_ENST00000464296.1_Silent_p.E58E NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 58 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) GCTTCAAAAGCTCCAGCCAAA 0.343000 50 117 0 0 0.870114 0 0 CCR1 1230 broad.mit.edu 37 3 46245233 46245233 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:46245233C>T ENST00000296140.3 - 2 697 c.572G>A c.(571-573)aGc>aAc p.S191N CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 191 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CTCTCGTAGGCTTTCGTGAGG 0.493000 21 37 0 0 0.624587 0 0 FAM179B 23116 broad.mit.edu 37 14 45431955 45431955 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr14:45431955G>A ENST00000361462.2 + 1 514 c.331G>A c.(331-333)Gag>Aag p.E111K FAM179B_ENST00000382233.2_Missense_Mutation_p.E111K|FAM179B_ENST00000361577.3_Missense_Mutation_p.E111K Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 111 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 GGATCCTTCTGAGGCCTTCCA 0.622000 24 71 0 0 0.740014 0 0 ABCC8 6833 broad.mit.edu 37 11 17414623 17414623 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:17414623C>A ENST00000302539.4 - 39 4789 c.4664G>T c.(4663-4665)gGt>gTt p.G1555V ABCC8_ENST00000389817.3_Missense_Mutation_p.G1554V NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1554 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AAGGATGGCACCCCGCTTCAG 0.617000 9 25 7.48243e-07 8.36851e-07 0.335167 1 0 IL1RAP 3556 broad.mit.edu 37 3 190366314 190366314 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:190366314G>A ENST00000412504.2 + 11 1785 c.1533G>A c.(1531-1533)gtG>gtA p.V511V IL1RAP_ENST00000447382.1_Silent_p.V511V|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000072516.3_Silent_p.V511V|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000439062.1_Silent_p.V511V Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 511 TIR. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) AAACGAAGGTGAAAGAGCTGA 0.502000 15 68 0 0 0.539581 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23004489 23004489 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:23004489C>T ENST00000312584.3 - 4 561 c.467G>A c.(466-468)cGg>cAg p.R156Q NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 156 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TCTACACGTCCGGCACATCTC 0.502000 7 44 0 0 0.335167 0 0 ATXN2L 11273 broad.mit.edu 37 16 28834730 28834730 + Silent SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:28834730G>T ENST00000336783.4 + 1 317 c.150G>T c.(148-150)ggG>ggT p.G50G ATXN2L_ENST00000382686.4_Silent_p.G50G|ATXN2L_ENST00000340394.8_Silent_p.G50G|ATXN2L_ENST00000395547.2_Silent_p.G50G|ATXN2L_ENST00000564304.1_Silent_p.G50G|ATXN2L_ENST00000325215.6_Silent_p.G50G|ATXN2L_ENST00000570200.1_Silent_p.G50G NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 50 Pro-rich. membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CTCCTCCCGGGCCTCCAGCGG 0.821000 2 2 0.00909568 0.00942845 0.150653 1 0 CPNE2 221184 broad.mit.edu 37 16 57157339 57157339 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:57157339A>G ENST00000535318.2 + 11 1242 c.881A>G c.(880-882)tAc>tGc p.Y294C CPNE2_ENST00000537605.1_Missense_Mutation_p.Y192C|CPNE2_ENST00000290776.8_Missense_Mutation_p.Y294C|CPNE2_ENST00000565874.1_Missense_Mutation_p.Y294C Q96FN4 CPNE2_HUMAN copine II 294 central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) AACCGAGACTACTCCTTCCTT 0.577000 63 72 0 0 0.870114 0 0 ANK2 287 broad.mit.edu 37 4 114278218 114278218 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:114278218A>G ENST00000357077.4 + 38 8497 c.8444A>G c.(8443-8445)cAa>cGa p.Q2815R ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.Q2782R|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2782 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTAGCTCTCCAAGGCACTCAT 0.463000 30 36 0 0 0.750413 0 0 AADAT 51166 broad.mit.edu 37 4 170988519 170988519 + Silent SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:170988519T>C ENST00000337664.4 - 9 1197 c.921A>G c.(919-921)ctA>ctG p.L307L AADAT_ENST00000509167.1_Silent_p.L311L|AADAT_ENST00000515480.1_Silent_p.L307L|AADAT_ENST00000353187.2_Silent_p.L307L NM_016228.3 NP_057312.1 Q8N5Z0 AADAT_HUMAN aminoadipate aminotransferase 307 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1) 11 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCCATTCGTGTAGAAGCTGTG 0.343000 25 31 0 0 0.760397 0 0 NRXN2 9379 broad.mit.edu 37 11 64428312 64428312 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:64428312G>A ENST00000265459.6 - 10 2559 c.2098C>T c.(2098-2100)Cgc>Tgc p.R700C NRXN2_ENST00000377551.1_Missense_Mutation_p.R700C|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Missense_Mutation_p.R669C|NRXN2_ENST00000409571.1_Missense_Mutation_p.R693C NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 700 EGF-like 2. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CCCCCATTGCGACAGGGGGCA 0.647000 41 29 0 0 0.870114 0 0 UNC79 57578 broad.mit.edu 37 14 94004365 94004365 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr14:94004365G>C ENST00000553484.1 + 12 1307 c.1153G>C c.(1153-1155)Gtc>Ctc p.V385L UNC79_ENST00000555664.1_Missense_Mutation_p.V385L|UNC79_ENST00000256339.4_Missense_Mutation_p.V208L|UNC79_ENST00000393151.2_Missense_Mutation_p.V385L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 385 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AAGAGCAGTTGTCACCTGCTT 0.468000 23 22 0 0 0.681144 0 0 PTPRF 5792 broad.mit.edu 37 1 44086245 44086245 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:44086245G>T ENST00000359947.4 + 31 5699 c.5359G>T c.(5359-5361)Gcc>Tcc p.A1787S PTPRF_ENST00000422171.2_Missense_Mutation_p.A1146S|PTPRF_ENST00000372413.3_Missense_Mutation_p.A1778S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.A1778S|PTPRF_ENST00000372414.3_Missense_Mutation_p.A1787S NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1787 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGTCACGGATGCCCGGGTGAG 0.552000 113 126 3.07415e-52 4.16973e-52 0.870114 1 0 MSGN1 343930 broad.mit.edu 37 2 17998252 17998252 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:17998252G>A ENST00000281047.3 + 1 490 c.467G>A c.(466-468)aGc>aAc p.S156N NM_001105569.1 NP_001099039.1 A6NI15 MSGN1_HUMAN mesogenin 1 156 Helix-loop-helix motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCTGTCTACAGCCAGAGAGGC 0.587000 12 27 0 0 0.435327 0 0 ERBB3 2065 broad.mit.edu 37 12 56481649 56481649 + Missense_Mutation SNP T T A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:56481649T>A ENST00000267101.3 + 6 1124 c.684T>A c.(682-684)caT>caA p.H228Q ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.H169Q NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 228 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AGTGCTGCCATGATGAGTGTG 0.537000 52 121 0 0 0.870114 0 0 NLRP8 126205 broad.mit.edu 37 19 56482062 56482062 + Splice_Site SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:56482062C>T ENST00000291971.3 + 6 2605 c.2534C>T c.(2533-2535)tCg>tTg p.S845L NLRP8_ENST00000590542.1_Splice_Site_p.S845L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 845 cytoplasm ATP binding p.S845L(2) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGAGGCTGTCGTAAGTCTCC 0.473000 66 94 0 0 0.870114 0 0 MUC17 140453 broad.mit.edu 37 7 100678782 100678782 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:100678782T>C ENST00000306151.4 + 3 4149 c.4085T>C c.(4084-4086)gTt>gCt p.V1362A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1362 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACAACTCCTGTTGACAACAGC 0.453000 169 238 0 0 0.870114 0 0 GABRG2 2566 broad.mit.edu 37 5 161569191 161569191 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:161569191T>C ENST00000356592.3 + 7 1251 c.791T>C c.(790-792)gTc>gCc p.V264A GABRG2_ENST00000393933.4_Missense_Mutation_p.V169A|GABRG2_ENST00000414552.2_Missense_Mutation_p.V304A|GABRG2_ENST00000361925.4_Missense_Mutation_p.V264A NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GTCATGTCTGTCTACTTTGAT 0.403000 24 144 0 0 0.740014 0 0 PODN 127435 broad.mit.edu 37 1 53540317 53540317 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:53540317A>G ENST00000371500.3 + 6 874 c.533A>G c.(532-534)aAt>aGt p.N178S PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.N197S|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 149 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ACCAACCTCAATTACCTGTAC 0.562000 50 192 0 0 0.870114 0 0 TCTN2 79867 broad.mit.edu 37 12 124158196 124158196 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:124158196G>T ENST00000303372.5 + 4 430 c.302G>T c.(301-303)gGt>gTt p.G101V TCTN2_ENST00000426174.2_Missense_Mutation_p.G100V NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 101 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TGGAAGAGAGGTCTGGACTGG 0.433000 21 71 2.48779e-11 2.89675e-11 0.693898 1 0 SCG2 7857 broad.mit.edu 37 2 224462395 224462395 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:224462395C>G ENST00000305409.2 - 2 1838 c.1606G>C c.(1606-1608)Gac>Cac p.D536H NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 536 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TCCTGCAGGTCATCTTCAGAT 0.468000 19 10 0 0 0.624587 0 0 SRRM4 84530 broad.mit.edu 37 12 119568521 119568521 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:119568521G>A ENST00000267260.4 + 8 1041 c.653G>A c.(652-654)cGc>cAc p.R218H SRRM4_ENST00000537597.1_3'UTR NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 218 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CAGAAGTCCCGCCGAAGGCAC 0.652000 11 10 0 0 0.361761 0 0 DNAJB13 374407 broad.mit.edu 37 11 73670624 73670624 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:73670624G>C ENST00000339764.1 + 3 1009 c.258G>C c.(256-258)tgG>tgC p.W86C NM_153614.2 NP_705842.2 P59910 DJB13_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 13 86 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) AGACCCCATGGACAACTGGTT 0.522000 73 23 0 0 0.870114 0 0 LIPE 3991 broad.mit.edu 37 19 42911490 42911490 + Missense_Mutation SNP T T A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:42911490T>A ENST00000244289.4 - 6 2249 c.1973A>T c.(1972-1974)cAg>cTg p.Q658L LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 658 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TCTGGAGGTCTGGGCCACAAA 0.687000 6 5 0 0 0.248553 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39913486 39913486 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:39913486G>A ENST00000425673.1 + 16 2030 c.1705G>A c.(1705-1707)Gaa>Aaa p.E569K PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E598K|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E539K|PLEKHG2_ENST00000409797.2_Intron Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 598 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGAGGAGGAGGAAGAGGAAGG 0.602000 5 12 0 0 0.184627 0 0 LRRC14B 389257 broad.mit.edu 37 5 192543 192543 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:192543C>A ENST00000328278.3 + 1 918 c.890C>A c.(889-891)aCg>aAg p.T297K NM_001080478.1 NP_001073947.1 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 297 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 10 AAGATCCCGACGCTGCTTGGG 0.657000 3 4 0.000602214 0.000634565 0.184627 1 0 HINFP 25988 broad.mit.edu 37 11 118997680 118997680 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:118997680G>A ENST00000350777.2 + 2 89 c.26G>A c.(25-27)cGa>cAa p.R9Q HINFP_ENST00000527354.1_Intron|HINFP_ENST00000527410.1_Missense_Mutation_p.R9Q NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 9 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 AAAGTTCCCCGAAAGGAGAAT 0.537000 80 46 0 0 0.870114 0 0 SNX32 254122 broad.mit.edu 37 11 65617466 65617466 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:65617466G>T ENST00000308342.6 + 3 642 c.217G>T c.(217-219)Gcc>Tcc p.A73S NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 73 PX. cell communication|protein transport phosphatidylinositol binding endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) GCTGCATGATGCCTACGTGGA 0.632000 31 22 1.56738e-10 1.80851e-10 0.796494 1 0 TMEM132B 114795 broad.mit.edu 37 12 126135372 126135372 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:126135372G>T ENST00000299308.3 + 7 1780 c.1772G>T c.(1771-1773)gGc>gTc p.G591V TMEM132B_ENST00000535886.1_Missense_Mutation_p.G103V NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 591 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TACATGCTGGGCCCCGACTGG 0.597000 18 53 2.21704e-12 2.60527e-12 0.639603 1 0 CDC5L 988 broad.mit.edu 37 6 44361233 44361233 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:44361233G>A ENST00000371477.3 + 4 661 c.362G>A c.(361-363)cGa>cAa p.R121Q NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 121 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GATGATCCACGAAAACTTAAA 0.408000 7 18 0 0 0.278610 0 0 WFDC3 140686 broad.mit.edu 37 20 44418583 44418583 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:44418583G>T ENST00000243938.4 - 2 115 c.32C>A c.(31-33)gCa>gAa p.A11E WFDC3_ENST00000372632.2_Missense_Mutation_p.A11E|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Missense_Mutation_p.A11E NM_080614.1 NP_542181.1 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 11 extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(3)|prostate(1) 5 Myeloproliferative disorder(115;0.0122) AGCAAGAAGTGCCTTCAGAAG 0.483000 28 63 6.53348e-20 8.12701e-20 0.788014 1 0 RB1 5925 broad.mit.edu 37 13 48955538 48955538 + Nonsense_Mutation SNP C C T rs121913303 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:48955538C>T ENST00000267163.4 + 17 1792 c.1654C>T c.(1654-1656)Cga>Tga p.R552* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 552 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.R552*(5) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACATTTAGAACGATGTGAACA 0.323000 R552*(NCIH1048_LUNG) 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 17 24 0 0 0.639603 0 0 PDE9A 5152 broad.mit.edu 37 21 44192566 44192566 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr21:44192566C>A ENST00000291539.6 + 19 1764 c.1704C>A c.(1702-1704)gaC>gaA p.D568E PDE9A_ENST00000349112.3_Missense_Mutation_p.D440E|PDE9A_ENST00000398232.3_Missense_Mutation_p.D501E|PDE9A_ENST00000398229.3_Missense_Mutation_p.D434E|PDE9A_ENST00000335512.4_Missense_Mutation_p.D508E|PDE9A_ENST00000380328.2_Missense_Mutation_p.D515E|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Missense_Mutation_p.D527E|PDE9A_ENST00000335440.6_Missense_Mutation_p.D466E|PDE9A_ENST00000398234.3_Missense_Mutation_p.D467E|PDE9A_ENST00000398236.3_Missense_Mutation_p.D482E|PDE9A_ENST00000398224.3_Missense_Mutation_p.D441E|PDE9A_ENST00000539837.1_Missense_Mutation_p.D440E|PDE9A_ENST00000398227.3_Missense_Mutation_p.D408E|PDE9A_ENST00000328862.6_Missense_Mutation_p.D542E NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 568 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 AGAAGACTGACAGCTTGACGT 0.532000 5 18 2.0095e-06 2.21828e-06 0.248553 1 0 ZNF302 55900 broad.mit.edu 37 19 35175840 35175840 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:35175840C>G ENST00000505242.1 + 5 1392 c.898C>G c.(898-900)Ctc>Gtc p.L300V ZNF302_ENST00000446502.2_Missense_Mutation_p.L344V|ZNF302_ENST00000423823.2_Missense_Mutation_p.L300V|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.L300V Q9NR11 ZN302_HUMAN zinc finger protein 302 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TGTGTCCCTTCTCATTCAGCA 0.423000 12 50 0 0 0.457914 0 0 GATA4 2626 broad.mit.edu 37 8 11615912 11615912 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:11615912G>A ENST00000335135.4 + 7 1815 c.1257G>A c.(1255-1257)caG>caA p.Q419Q GATA4_ENST00000528712.1_Silent_p.Q213Q|GATA4_ENST00000532059.1_Silent_p.Q420Q NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 419 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) AGTCTCCACAGACCAGCTCCA 0.587000 27 47 0 0 0.769981 0 0 LRRC52 440699 broad.mit.edu 37 1 165532872 165532872 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:165532872C>T ENST00000294818.1 + 2 1043 c.753C>T c.(751-753)atC>atT p.I251I RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA NM_001005214.3 NP_001005214.2 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 251 integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) TGCTGCTCATCGGCTTCTGCA 0.587000 13 35 0 0 0.479597 0 0 KLHL13 90293 broad.mit.edu 37 X 117054334 117054334 + Splice_Site SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:117054334C>A ENST00000371876.1 - 2 2509 c.e2-1 KLHL13_ENST00000371882.1_Splice_Site|KLHL13_ENST00000539496.1_Splice_Site|KLHL13_ENST00000469946.1_Splice_Site|KLHL13_ENST00000545703.1_Splice_Site|KLHL13_ENST00000262820.3_Splice_Site|KLHL13_ENST00000540167.1_Splice_Site|KLHL13_ENST00000371878.1_Splice_Site|KLHL13_ENST00000541812.1_Splice_Site Q9P2N7 KLH13_HUMAN kelch-like family member 13 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GGTCAAAGCCCTACAACAAGA 0.408000 46 49 3.94638e-17 4.81496e-17 0.870114 1 0 ATF2 1386 broad.mit.edu 37 2 175979453 175979453 + Silent SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:175979453T>C ENST00000264110.2 - 8 889 c.591A>G c.(589-591)gtA>gtG p.V197V ATF2_ENST00000538946.1_Silent_p.V179V|ATF2_ENST00000426833.3_Silent_p.V179V|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_Silent_p.V179V|ATF2_ENST00000345739.5_Silent_p.V139V|ATF2_ENST00000392544.1_Silent_p.V197V|ATF2_ENST00000409635.1_Silent_p.V139V|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Intron|ATF2_ENST00000409833.1_Silent_p.V197V NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 197 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) CCTGGGTGATTACAGTACTTG 0.403000 118 93 0 0 0.870114 0 0 MFSD11 79157 broad.mit.edu 37 17 74740413 74740413 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:74740413G>C ENST00000588460.1 + 7 2548 c.506G>C c.(505-507)cGa>cCa p.R169P MFSD11_ENST00000355954.3_Missense_Mutation_p.R117P|MFSD11_ENST00000586622.1_Missense_Mutation_p.R169P|MFSD11_ENST00000590514.1_Missense_Mutation_p.R169P|MFSD11_ENST00000336509.4_Missense_Mutation_p.R169P|MFSD11_ENST00000593181.1_Missense_Mutation_p.R117P NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 169 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 GAGAGTGACCGAAGAACAGTG 0.413000 25 48 0 0 0.796494 0 0 CCDC108 255101 broad.mit.edu 37 2 219900359 219900359 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:219900359G>A ENST00000341552.5 - 5 468 c.385C>T c.(385-387)Cac>Tac p.H129Y CCDC108_ENST00000441968.1_Missense_Mutation_p.H129Y|CCDC108_ENST00000409865.3_Missense_Mutation_p.H118Y|CCDC108_ENST00000295729.2_Missense_Mutation_p.H64Y|CCDC108_ENST00000453220.1_Missense_Mutation_p.H129Y|CCDC108_ENST00000410037.1_Missense_Mutation_p.H64Y|CCDC108_ENST00000324264.6_Missense_Mutation_p.H64Y NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 129 H -> R (in Ref. 1; BAC86878). integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTTGGGGAGTGCATCTGAGTG 0.567000 63 16 0 0 0.870114 0 0 EHBP1 23301 broad.mit.edu 37 2 63176182 63176182 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:63176182G>A ENST00000263991.5 + 14 2788 c.2306G>A c.(2305-2307)aGt>aAt p.S769N EHBP1_ENST00000354487.3_Missense_Mutation_p.S734N|EHBP1_ENST00000405289.1_Missense_Mutation_p.S734N|EHBP1_ENST00000431489.1_Missense_Mutation_p.S734N|EHBP1_ENST00000405015.3_Missense_Mutation_p.S734N NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 769 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TACTCATATAGTAGAGATCTA 0.373000 20 13 0 0 0.592651 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 34 17 0 0 0.827153 0 0 SAC3D1 29901 broad.mit.edu 37 11 64811717 64811717 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:64811717G>A ENST00000398846.1 + 2 984 c.595G>A c.(595-597)Gag>Aag p.E199K SAC3D1_ENST00000531072.1_Missense_Mutation_p.E199K|SAC3D1_ENST00000530213.1_3'UTR NM_013299.3 NP_037431.3 SAC3 domain containing 1 endometrium(2)|lung(1) 3 AGCCCTGCATGAGGTTCTACA 0.642000 14 56 0 0 0.479597 0 0 RGS7BP 401190 broad.mit.edu 37 5 63871635 63871635 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:63871635C>T ENST00000334025.2 + 3 693 c.367C>T c.(367-369)Cgg>Tgg p.R123W RGS7BP_ENST00000508162.1_3'UTR NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 123 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) AGAAATCTGTCGGCTTTACAT 0.433000 25 13 0 0 0.717897 0 0 CES2 8824 broad.mit.edu 37 16 66969416 66969416 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:66969416C>G ENST00000317091.4 + 1 1054 c.70C>G c.(70-72)Ccc>Gcc p.P24A CES2_ENST00000417689.1_Missense_Mutation_p.P24A NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 0 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CCCGCTGACTCCCTGCCCAGT 0.662000 46 165 0 0 0.870114 0 0 BANP 54971 broad.mit.edu 37 16 88008777 88008777 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:88008777G>C ENST00000393207.1 + 2 277 c.56G>C c.(55-57)aGc>aCc p.S19T BANP_ENST00000355022.4_Missense_Mutation_p.S19T|BANP_ENST00000355163.5_Missense_Mutation_p.S19T|BANP_ENST00000286122.7_Missense_Mutation_p.S19T|BANP_ENST00000538234.1_Missense_Mutation_p.S19T|BANP_ENST00000479780.2_Missense_Mutation_p.S19T|BANP_ENST00000393208.2_Missense_Mutation_p.S19T NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 19 cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) GAAGACCTGAGCCCTGACCAC 0.473000 26 50 0 0 0.779181 0 0 MYBPC2 4606 broad.mit.edu 37 19 50961863 50961863 + Silent SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:50961863C>G ENST00000357701.5 + 21 2409 c.2358C>G c.(2356-2358)gcC>gcG p.A786A NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 786 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GGGTCCCTGCCAACACCGAGC 0.657000 14 34 0 0 0.520397 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33096357 33096357 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:33096357T>C ENST00000267068.3 - 4 1599 c.1435A>G c.(1435-1437)Aat>Gat p.N479D N4BP2L2_ENST00000504114.1_Missense_Mutation_p.N35D|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.N35D|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.N50D|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N479D NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 479 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) GCTTGTATATTAGTGTTATCT 0.254000 51 68 0 0 0.870114 0 0 MACC1 346389 broad.mit.edu 37 7 20199459 20199459 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:20199459C>T ENST00000400331.5 - 5 833 c.525G>A c.(523-525)cgG>cgA p.R175R MACC1_ENST00000332878.4_Silent_p.R175R|MACC1_ENST00000589011.1_Silent_p.R175R NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 175 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TATAAGCCTCCCGATCATTTT 0.468000 8 68 0 0 0.307466 0 0 SYNE1 23345 broad.mit.edu 37 6 152464820 152464820 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:152464820C>T ENST00000367255.5 - 138 25658 c.25057G>A c.(25057-25059)Gaa>Aaa p.E8353K SYNE1_ENST00000539504.1_Missense_Mutation_p.E508K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7965K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8353K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8305K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8305K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2877K|SYNE1_ENST00000354674.4_Missense_Mutation_p.E531K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8353 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATGATATTTTCGGTTTGCTGT 0.532000 HNSCC(10;0.0054) 19 52 0 0 0.608945 0 0 SSH2 85464 broad.mit.edu 37 17 27959241 27959241 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:27959241G>T ENST00000269033.3 - 15 3041 c.2890C>A c.(2890-2892)Cac>Aac p.H964N RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.H991N NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 964 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCTGGCAAGTGGTCAAACTCC 0.547000 23 19 1.64293e-13 1.9577e-13 0.654019 1 0 PAK3 5063 broad.mit.edu 37 X 110388131 110388131 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:110388131G>C ENST00000519681.1 + 7 762 c.320G>C c.(319-321)aGt>aCt p.S107T PAK3_ENST00000360648.4_Missense_Mutation_p.S107T|PAK3_ENST00000518291.1_Missense_Mutation_p.S107T|PAK3_ENST00000425146.1_Intron|PAK3_ENST00000446737.1_Intron|PAK3_ENST00000262836.4_Intron|PAK3_ENST00000417227.1_Missense_Mutation_p.S107T|PAK3_ENST00000372010.1_Intron|PAK3_ENST00000372007.5_Intron O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 99 Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker. PE -> SL (in Ref. 2). multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GTCGCTTCAAGTCAATCAGAG 0.388000 TSP Lung(19;0.15) 7 5 0 0 0.335167 0 0 OR10T2 128360 broad.mit.edu 37 1 158369175 158369175 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:158369175G>A ENST00000334438.1 - 1 81 c.82C>T c.(82-84)Ctt>Ttt p.L28F NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L28F(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) ATGACAAAAAGCAGCAGCTGG 0.488000 6 27 0 0 0.278610 0 0 FMNL2 114793 broad.mit.edu 37 2 153476122 153476122 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:153476122G>C ENST00000288670.9 + 15 2094 c.1727G>C c.(1726-1728)gGc>gCc p.G576A FMNL2_ENST00000475377.2_5'UTR NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 576 Pro-rich. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 cctcTCCCAGGCCCTGCAGCT 0.642000 7 15 0 0 0.278610 0 0 IFI16 3428 broad.mit.edu 37 1 158986391 158986391 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:158986391G>T ENST00000295809.7 + 4 705 c.450G>T c.(448-450)caG>caT p.Q150H IFI16_ENST00000448393.2_Missense_Mutation_p.Q150H|IFI16_ENST00000340979.6_Missense_Mutation_p.Q150H|IFI16_ENST00000430894.2_Intron|IFI16_ENST00000368131.4_Missense_Mutation_p.Q150H|IFI16_ENST00000368132.3_Missense_Mutation_p.Q150H|IFI16_ENST00000359709.3_Intron Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 150 Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) AACAGACTCAGCCTCCCTCTC 0.502000 5 36 0.014758 0.015236 0.184627 1 0 PMEL 6490 broad.mit.edu 37 12 56355112 56355112 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:56355112G>T ENST00000548747.1 - 3 985 c.323C>A c.(322-324)aCc>aAc p.T108N PMEL_ENST00000539511.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.T108N|PMEL_ENST00000550447.1_Missense_Mutation_p.T71N|PMEL_ENST00000449260.2_Missense_Mutation_p.T108N|PMEL_ENST00000536427.1_Missense_Mutation_p.T108N|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000548493.1_Missense_Mutation_p.T108N|PMEL_ENST00000360714.4_Missense_Mutation_p.T108N P40967 PMEL_HUMAN premelanosome protein 108 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATTGATGATGGTATTGTTGAC 0.488000 32 19 9.8876e-21 1.24204e-20 0.804634 1 0 WISP3 8838 broad.mit.edu 37 6 112382385 112382385 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:112382385G>T ENST00000361714.1 + 2 339 c.294G>T c.(292-294)aaG>aaT p.K98N WISP3_ENST00000368666.2_Missense_Mutation_p.K80N|WISP3_ENST00000604763.1_Missense_Mutation_p.K80N|WISP3_ENST00000368663.3_Missense_Mutation_p.K58N|WISP3_ENST00000230529.5_Missense_Mutation_p.K80N O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 80 IGFBP N-terminal. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding p.K98N(1) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 13 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TCTGTGCCAAGCAACCAGGGG 0.537000 54 21 6.4685e-43 8.54646e-43 0.870114 1 0 EPHB1 2047 broad.mit.edu 37 3 134968233 134968233 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:134968233G>A ENST00000398015.3 + 15 3116 c.2746G>A c.(2746-2748)Gtg>Atg p.V916M EPHB1_ENST00000493838.1_Missense_Mutation_p.V477M NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 916 SAM. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CTTTACCACCGTGGATGACTG 0.587000 41 33 0 0 0.847076 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128326 117128326 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:117128326C>T ENST00000310357.3 - 3 563 c.542G>A c.(541-543)cGc>cAc p.R181H GPRC6A_ENST00000368549.3_Missense_Mutation_p.R181H|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R181H NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 181 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGAAGGAAAGCGAATTTTGTC 0.398000 44 26 0 0 0.870114 0 0 USP32 84669 broad.mit.edu 37 17 58348774 58348774 + Nonsense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:58348774G>A ENST00000300896.4 - 6 834 c.640C>T c.(640-642)Cga>Tga p.R214* USP32_ENST00000393003.3_Nonsense_Mutation_p.R214* NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 214 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) AAATCAAATCGTCCAGTCCGG 0.398000 3 60 0 0 0.150653 0 0 DMD 1756 broad.mit.edu 37 X 32383166 32383166 + Silent SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:32383166G>T ENST00000357033.4 - 35 5202 c.4996C>A c.(4996-4998)Cga>Aga p.R1666R DMD_ENST00000378677.2_Silent_p.R1662R NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1666 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTTCTGCTCGGGAGGTGACA 0.428000 49 44 3.30226e-22 4.25291e-22 0.870114 1 0 AUH 549 broad.mit.edu 37 9 94118381 94118381 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr9:94118381G>C ENST00000375731.4 - 2 342 c.319C>G c.(319-321)Ctt>Gtt p.L107V AUH_ENST00000422391.2_Missense_Mutation_p.L107V|AUH_ENST00000303617.5_Missense_Mutation_p.L107V|AUH_ENST00000478465.1_5'UTR NM_001698.2 NP_001689.1 Q13825 AUHM_HUMAN AU RNA binding protein/enoyl-CoA hydratase 107 RNA-binding. branched chain family amino acid catabolic process|mRNA catabolic process mitochondrial matrix enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 ATTTTTATAAGATTTTTACTG 0.289000 4 17 0 0 0.150653 0 0 FAT1 2195 broad.mit.edu 37 4 187525600 187525600 + Silent SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:187525600C>A ENST00000441802.2 - 18 10688 c.10479G>T c.(10477-10479)ccG>ccT p.P3493P NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3493 Cadherin 32. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GGACTCCTTGCGGGTTAACTT 0.433000 HNSCC(5;0.00058) 12 31 1.3612e-06 1.51575e-06 0.479597 1 0 ZNF197 10168 broad.mit.edu 37 3 44685245 44685245 + Nonsense_Mutation SNP G G T rs61751651 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:44685245G>T ENST00000396058.1 + 5 2790 c.2623G>T c.(2623-2625)Gaa>Taa p.E875* ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Nonsense_Mutation_p.E875* O14709 ZN197_HUMAN zinc finger protein 197 875 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AAAAACCTACGAATGTCATGT 0.383000 22 44 7.33532e-06 7.99362e-06 0.667858 1 0 PRR5L 79899 broad.mit.edu 37 11 36422827 36422827 + Silent SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:36422827C>A ENST00000378867.3 + 3 511 c.156C>A c.(154-156)gcC>gcA p.A52A PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000311599.5_Silent_p.A26A|PRR5L_ENST00000527487.1_Silent_p.A52A|PRR5L_ENST00000530639.1_Silent_p.A52A NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 52 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 CCAGCTCAGCCTGGAACAGGT 0.652000 3 11 0.115264 0.116175 0.115264 1 0 PRPF6 24148 broad.mit.edu 37 20 62664245 62664245 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:62664245G>T ENST00000535781.1 + 20 2716 c.2605G>T c.(2605-2607)Ggg>Tgg p.G869W ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 909 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GCCTCGGCATGGGGAGCTGTG 0.642000 25 23 7.92952e-12 9.27536e-12 0.667858 1 0 GTSF1 121355 broad.mit.edu 37 12 54854248 54854248 + Missense_Mutation SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:54854248T>C ENST00000552397.1 - 7 1296 c.400A>G c.(400-402)Agc>Ggc p.S134G GTSF1_ENST00000305879.5_Missense_Mutation_p.S134G|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA Q8WW33 GTSF1_HUMAN gametocyte specific factor 1 134 metal ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(1001;0.00452) ACTATGTTGCTCGCAGGGCTG 0.413000 18 27 0 0 0.575678 0 0 NOA1 84273 broad.mit.edu 37 4 57842717 57842717 + Silent SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:57842717G>T ENST00000264230.4 - 1 2272 c.1035C>A c.(1033-1035)ggC>ggA p.G345G NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 345 GTP binding CGTTGGTGGCGCCCACTAAGT 0.607000 14 40 1.52009e-12 1.79455e-12 0.479597 1 0 WHSC1 7468 broad.mit.edu 37 4 1936889 1936889 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:1936889A>G ENST00000503128.1 + 7 1781 c.1574A>G c.(1573-1575)aAa>aGa p.K525R WHSC1_ENST00000514045.1_Missense_Mutation_p.K525R|WHSC1_ENST00000420906.2_Missense_Mutation_p.K525R|WHSC1_ENST00000382892.2_Missense_Mutation_p.K525R|WHSC1_ENST00000382891.5_Missense_Mutation_p.K525R|WHSC1_ENST00000382895.3_Missense_Mutation_p.K525R|WHSC1_ENST00000398261.1_Missense_Mutation_p.K525R|WHSC1_ENST00000508803.1_Missense_Mutation_p.K525R O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 525 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AATGGGAAAAAAAGAAACCAC 0.468000 T IGH@ MM 6 19 0 0 0.217242 0 0 FAM83H 286077 broad.mit.edu 37 8 144810312 144810312 + Missense_Mutation SNP T T G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:144810312T>G ENST00000388913.3 - 5 1444 c.1319A>C c.(1318-1320)gAc>gCc p.D440A NM_198488.3 NP_940890 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 440 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 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) GAAGCGGAAGTCGTCGCCGTG 0.697000 5 15 0 0 0.184627 0 0 ADAM32 203102 broad.mit.edu 37 8 39111966 39111966 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:39111966C>A ENST00000379907.4 + 18 2063 c.1936C>A c.(1936-1938)Cca>Aca p.P646T ADAM32_ENST00000437682.2_Missense_Mutation_p.P547T|ADAM32_ENST00000519315.1_Missense_Mutation_p.P540T NM_145004.5 NP_659441 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 646 EGF-like. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) CCATTGTTCGCCAGGCTATAA 0.363000 6 3 0.00621372 0.00649384 0.335167 1 0 IL2RB 3560 broad.mit.edu 37 22 37524836 37524836 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:37524836G>T ENST00000216223.5 - 10 1154 c.956C>A c.(955-957)gCa>gAa p.A319E NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 319 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GATCTCAGGTGCCAGGCCGCC 0.627000 14 37 3.99206e-14 4.80177e-14 0.557998 1 0 RP1L1 94137 broad.mit.edu 37 8 10469938 10469938 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:10469938C>T ENST00000382483.3 - 4 1893 c.1670G>A c.(1669-1671)gGc>gAc p.G557D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 557 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCTTGCCTTGCCTGGACAGCC 0.657000 24 39 0 0 0.681144 0 0 GRHL3 57822 broad.mit.edu 37 1 24668758 24668758 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:24668758G>T ENST00000361548.4 + 9 1431 c.1201G>T c.(1201-1203)Gac>Tac p.D401Y GRHL3_ENST00000236255.4_Missense_Mutation_p.D406Y|GRHL3_ENST00000356046.2_Missense_Mutation_p.D355Y|GRHL3_ENST00000342072.4_Missense_Mutation_p.D308Y|GRHL3_ENST00000350501.5_Missense_Mutation_p.D401Y NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 401 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GATCTTCTGTGACAAGGTGGC 0.587000 41 30 2.43468e-25 3.16757e-25 0.870114 1 0 OR4C15 81309 broad.mit.edu 37 11 55322269 55322269 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:55322269G>T ENST00000314644.2 + 1 487 c.487G>T c.(487-489)Gtg>Ttg p.V163L NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CTTTGCTGGGGTGGAGGTGAT 0.473000 HNSCC(20;0.049) 19 124 6.21321e-17 7.54461e-17 0.639603 1 0 ATP5G1 516 broad.mit.edu 37 17 46971758 46971758 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:46971758A>G ENST00000393366.2 + 3 167 c.64A>G c.(64-66)Atc>Gtc p.I22V RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000503641.1_Missense_Mutation_p.I22V|ATP5G1_ENST00000506855.1_Intron|ATP5G1_ENST00000355938.5_Missense_Mutation_p.I22V|ATP5G1_ENST00000514808.1_Missense_Mutation_p.I22V|ATP5G1_ENST00000513781.1_3'UTR NM_005175.2 NP_005166.1 P05496 AT5G1_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) 22 ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding liver(1)|lung(1) 2 CAGGGGTCTAATCAGGCCTGT 0.443000 50 125 0 0 0.870114 0 0 ABLIM2 84448 broad.mit.edu 37 4 8029554 8029554 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:8029554C>A ENST00000447017.2 - 12 1218 c.1199G>T c.(1198-1200)tGc>tTc p.C400F ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000341937.5_Intron|ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000514025.1_Intron NM_001130083.1 NP_001123555.1 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 400 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 CAGGGAGAGGCAGCTACTGGT 0.557000 10 35 0.000308642 0.000326571 0.479597 1 0 MYO18B 84700 broad.mit.edu 37 22 26173598 26173598 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:26173598G>T ENST00000335473.7 + 8 2168 c.1918G>T c.(1918-1920)Gca>Tca p.A640S MYO18B_ENST00000407587.2_Missense_Mutation_p.A640S|MYO18B_ENST00000536101.1_Missense_Mutation_p.A640S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 640 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TGGCTCCATGGCACAGCGGGC 0.647000 6 30 1.12685e-05 1.21243e-05 0.307466 1 0 TBC1D8 11138 broad.mit.edu 37 2 101624437 101624437 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:101624437G>C ENST00000409318.1 - 20 3444 c.3314C>G c.(3313-3315)gCt>gGt p.A1105G RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.A1090G|RPL31_ENST00000409038.1_Intron NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 1090 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 CAGAAGTGAAGCTAAAATATG 0.448000 4 37 0 0 0.150653 0 0 TBC1D8 11138 broad.mit.edu 37 2 101624308 101624308 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:101624308G>A ENST00000409318.1 - 20 3573 c.3443C>T c.(3442-3444)tCt>tTt p.S1148F RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.S1133F|RPL31_ENST00000409038.1_Intron NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 1133 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 CTTAAGTTCAGATTGTGATTG 0.423000 33 142 0 0 0.840704 0 0 BANK1 55024 broad.mit.edu 37 4 102946511 102946511 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:102946511C>G ENST00000504592.1 + 13 1812 c.1394C>G c.(1393-1395)tCt>tGt p.S465C BANK1_ENST00000444316.2_Missense_Mutation_p.S450C|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Missense_Mutation_p.S347C|BANK1_ENST00000322953.4_Missense_Mutation_p.S480C|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000428908.1_Missense_Mutation_p.S347C Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 480 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AGTGAGAGTTCTGAAGACCAG 0.493000 14 56 0 0 0.520397 0 0 DIDO1 11083 broad.mit.edu 37 20 61513072 61513072 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr20:61513072C>G ENST00000266070.4 - 16 4561 c.4236G>C c.(4234-4236)agG>agC p.R1412S DIDO1_ENST00000395343.1_Missense_Mutation_p.R1412S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1412 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTCAGGAGCCCTTTCCACCT 0.612000 69 70 0 0 0.870114 0 0 MAP3K4 4216 broad.mit.edu 37 6 161530934 161530934 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:161530934C>A ENST00000392142.4 + 23 4532 c.4384C>A c.(4384-4386)Cgt>Agt p.R1462S MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1458S|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1408S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1412S NM_005922.2 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1462 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.R1462C(1)|p.R1461C(1) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CATAGTCCACCGTGACATTAA 0.552000 3 70 0.150653 0.151247 0.150653 1 0 SGSM3 27352 broad.mit.edu 37 22 40804819 40804819 + Silent SNP C C T rs140197200 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:40804819C>T ENST00000248929.9 + 18 2064 c.1875C>T c.(1873-1875)gtC>gtT p.V625V SGSM3_ENST00000454798.2_Silent_p.V558V NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 625 RUN. 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 ATGGCAAAGTCCTGACCCCGG 0.652000 15 49 0 0 0.608945 0 0 C2orf44 80304 broad.mit.edu 37 2 24254029 24254029 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:24254029G>A ENST00000295148.4 - 4 1997 c.1940C>T c.(1939-1941)tCc>tTc p.S647F C2orf44_ENST00000406895.3_Missense_Mutation_p.P608S NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 647 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) AATCCAGTGGGAATCTGCAAA 0.363000 T ALK NSCLC 7 15 0 0 0.248553 0 0 NELL1 4745 broad.mit.edu 37 11 20940871 20940871 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:20940871G>C ENST00000298925.5 + 8 987 c.834G>C c.(832-834)atG>atC p.M278I NELL1_ENST00000532434.1_Missense_Mutation_p.M250I|NELL1_ENST00000325319.5_Missense_Mutation_p.M193I|NELL1_ENST00000357134.5_Missense_Mutation_p.M250I Q92832 NELL1_HUMAN NEL-like 1 (chicken) 250 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TGGCCAAGATGACTGCAAAAG 0.328000 28 40 0 0 0.788014 0 0 ATP1A2 477 broad.mit.edu 37 1 160109741 160109741 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:160109741G>A ENST00000361216.3 + 22 3090 c.3001G>A c.(3001-3003)Gtc>Atc p.V1001I ATP1A2_ENST00000392233.3_Missense_Mutation_p.V990I NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 1001 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CTATGATGAGGTCCGAAAGCT 0.582000 33 68 0 0 0.859065 0 0 PLD3 23646 broad.mit.edu 37 19 40882622 40882622 + Missense_Mutation SNP G G C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:40882622G>C ENST00000409587.1 + 11 1523 c.1126G>C c.(1126-1128)Gcc>Ccc p.A376P PLD3_ENST00000409735.4_Missense_Mutation_p.A376P|PLD3_ENST00000409419.1_Missense_Mutation_p.A376P|PLD3_ENST00000356508.5_Missense_Mutation_p.A376P|PLD3_ENST00000409281.1_Missense_Mutation_p.A376P Q8IV08 PLD3_HUMAN phospholipase D family, member 3 376 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) ATCCATGCGGGCCTTCCTGCT 0.652000 43 53 0 0 0.870114 0 0 GGT3P 2679 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 3 24 0 0 0.150653 0 0 UNC45A 55898 broad.mit.edu 37 15 91491883 91491883 + Splice_Site SNP G G A rs146010728 byFrequency TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr15:91491883G>A ENST00000394275.2 + 16 2527 c.e16-1 UNC45A_ENST00000418476.2_Splice_Site NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TGTCCTGGCAGTTGGAGGAGA 0.602000 3 65 0 0 0.150653 0 0 ACAT1 38 broad.mit.edu 37 11 108009666 108009666 + Silent SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:108009666T>C ENST00000265838.4 + 6 568 c.477T>C c.(475-477)gtT>gtC p.V159V NM_000019.3 NP_000010.1 P24752 THIL_HUMAN acetyl-CoA acetyltransferase 1 159 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2) 10 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) TGTCCAATGTTCCATATGTAA 0.398000 54 171 0 0 0.870114 0 0 MAP3K14 9020 broad.mit.edu 37 17 43351496 43351496 + RNA SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:43351496C>G ENST00000344686.2 - 0 1651 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TTACCTTTGACGTCCCCATGC 0.617000 3 3 0 0 0.150653 0 0 LRIT1 26103 broad.mit.edu 37 10 85997383 85997383 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr10:85997383G>A ENST00000372105.3 - 2 203 c.182C>T c.(181-183)aCc>aTc p.T61I NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 61 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 CAGTCTGGAGGTGTCCGGGGG 0.662000 44 9 0 0 0.870114 0 0 CDK8 1024 broad.mit.edu 37 13 26828866 26828866 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:26828866G>T ENST00000381527.3 + 1 591 c.88G>T c.(88-90)Ggc>Tgc p.G30C CDK8_ENST00000536792.1_Missense_Mutation_p.G30C NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 30 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AGTTGGCCGAGGCACTTATGG 0.592000 16 21 5.3912e-06 5.90024e-06 0.539581 1 0 JMJD7 100137047 broad.mit.edu 37 15 42129135 42129135 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr15:42129135G>A ENST00000397299.4 + 7 899 c.859G>A c.(859-861)Gca>Aca p.A287T JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Intron|JMJD7-PLA2G4B_ENST00000476036.1_Intron|JMJD7_ENST00000408047.1_Missense_Mutation_p.A188T|PLA2G4B_ENST00000542534.2_Intron NM_001114632.1 NP_001108104.1 jumonji domain containing 7 NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2) 8 GGGCTGCATCGCAGGTGAAGA 0.667000 3 40 0 0 0.115264 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028486 59028486 + Silent SNP T T C TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:59028486T>C ENST00000594051.1 - 2 1035 c.555A>G c.(553-555)ccA>ccG p.P185P ZBTB45_ENST00000354590.3_Silent_p.P185P|ZBTB45_ENST00000600990.1_Silent_p.P185P Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 185 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) TGGCAGGTGTTGGGGGCGCTG 0.692000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 36 0 0 0.769981 0 0 SHROOM2 357 broad.mit.edu 37 X 9900619 9900619 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:9900619C>T ENST00000380913.3 + 6 3386 c.3296C>T c.(3295-3297)cCt>cTt p.P1099L SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1099 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) ACGCCATCCCCTGCGTCCCTG 0.692000 6 52 0 0 0.248553 0 0 PLAT 5327 broad.mit.edu 37 8 42050684 42050684 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:42050684C>G ENST00000220809.4 - 2 276 c.20G>C c.(19-21)gGg>gCg p.G7A PLAT_ENST00000429710.2_Missense_Mutation_p.G7A|PLAT_ENST00000270189.6_Missense_Mutation_p.G7A|PLAT_ENST00000524009.1_Missense_Mutation_p.G7A|PLAT_ENST00000429089.2_Missense_Mutation_p.G7A|PLAT_ENST00000352041.3_Missense_Mutation_p.G7A|PLAT_ENST00000519510.1_Missense_Mutation_p.G7A NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 7 blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ACAGCAGAGCCCTCTCTTCAT 0.547000 12 28 0 0 0.479597 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 3 27 0 0 0.115264 0 0 MAPK11 5600 broad.mit.edu 37 22 50705436 50705436 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:50705436C>T ENST00000330651.6 - 7 637 c.537G>A c.(535-537)atG>atA p.M179I MAPK11_ENST00000449719.2_Missense_Mutation_p.M71I NM_002751.5 NP_002742.3 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 179 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding breast(1)|central_nervous_system(1)|lung(4) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CATAGCCGGTCATCTCCTCGT 0.657000 12 44 0 0 0.387290 0 0 DNAH11 8701 broad.mit.edu 37 7 21631013 21631013 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:21631013C>T ENST00000328843.6 + 14 2516 c.2485C>T c.(2485-2487)Cgc>Tgc p.R829C DNAH11_ENST00000409508.3_Missense_Mutation_p.R829C Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 829 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R829C(2) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CAGAGTTGAGCGCACACAGAA 0.607000 Kartagener syndrome 14 33 0 0 0.520397 0 0 GMIP 51291 broad.mit.edu 37 19 19740837 19740837 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:19740837C>T ENST00000203556.4 - 21 2985 c.2848G>A c.(2848-2850)Gag>Aag p.E950K GMIP_ENST00000587238.1_Missense_Mutation_p.E924K|GMIP_ENST00000445806.2_Missense_Mutation_p.E921K NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 950 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GGCACAGCCTCGCTGTCCAAT 0.637000 2 1 0 0 0.115264 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250447 140250447 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:140250447G>T ENST00000398640.2 + 1 1759 c.1759G>T c.(1759-1761)Ggc>Tgc p.G587C PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGGTGCGGGCCACGTGGT 0.677000 22 95 1.13719e-10 1.31811e-10 0.729181 1 0 TMEM245 23731 broad.mit.edu 37 9 111849557 111849557 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr9:111849557C>T ENST00000374586.3 - 6 1247 c.1216G>A c.(1216-1218)Gtg>Atg p.V406M NM_032012.3 NP_114401.2 Q9H330 CI005_HUMAN transmembrane protein 245 406 integral to membrane CCCCACCACACATGGTAGCGT 0.413000 21 30 0 0 0.681144 0 0 ANKS3 124401 broad.mit.edu 37 16 4764077 4764077 + Silent SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:4764077C>G ENST00000304283.4 - 7 978 c.684G>C c.(682-684)ctG>ctC p.L228L ANKS3_ENST00000585773.1_Silent_p.L155L|ANKS3_ENST00000446014.2_Silent_p.L99L|ANKS3_ENST00000450067.2_Silent_p.L22L NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 228 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 GGCTCTTGGGCAGAGAGGGCG 0.607000 18 36 0 0 0.557998 0 0 MALSU1 115416 broad.mit.edu 37 7 23347511 23347511 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:23347511G>T ENST00000466681.1 + 3 613 c.460G>T c.(460-462)Gac>Tac p.D154Y NM_138446.1 NP_612455.1 Q96EH3 CG030_HUMAN mitochondrial assembly of ribosomal large subunit 1 154 mitochondrion ATGTAAACGTGACCCTCATGT 0.428000 49 81 9.68594e-22 1.23496e-21 0.870114 1 0 TEF 7008 broad.mit.edu 37 22 41783535 41783535 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr22:41783535G>A ENST00000266304.4 + 2 454 c.338G>A c.(337-339)aGc>aAc p.S113N TEF_ENST00000406644.3_Missense_Mutation_p.S83N NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 113 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 ATCCCCGCCAGCCCCACCCAC 0.587000 100 81 0 0 0.870114 0 0 RNF152 220441 broad.mit.edu 37 18 59483323 59483323 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr18:59483323C>G ENST00000312828.3 - 2 1473 c.374G>C c.(373-375)aGc>aCc p.S125T NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 125 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) CTTCTGCTGGCTCCCGGGCAG 0.662000 19 7 0 0 0.654019 0 0 ZNF420 147923 broad.mit.edu 37 19 37619520 37619520 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:37619520G>A ENST00000337995.3 + 5 1842 c.1627G>A c.(1627-1629)Ggc>Agc p.G543S ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_3'UTR|ZNF585A_ENST00000588723.1_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTTGCGCGTGGCTTACTACT 0.413000 28 54 0 0 0.706142 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105890144 105890144 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:105890144C>T ENST00000393359.2 - 9 2095 c.1669G>A c.(1669-1671)Gga>Aga p.G557R TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G557R Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 557 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 ACCTGAACTCCGACCTGAAAG 0.403000 5 21 0 0 0.278610 0 0 KCNH3 23416 broad.mit.edu 37 12 49944089 49944089 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr12:49944089G>T ENST00000257981.6 + 10 2155 c.1895G>T c.(1894-1896)gGt>gTt p.G632V NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 632 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GTGCTCAAGGGTGGCACCGTG 0.632000 18 78 6.12954e-19 7.55088e-19 0.681144 1 0 ZNF761 388561 broad.mit.edu 37 19 53958826 53958826 + RNA SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:53958826G>A ENST00000454407.1 + 0 1518 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AACCTTACAAGTGTAATGAGT 0.418000 6 304 0 0 0.307466 0 0 TTN 7273 broad.mit.edu 37 2 179613658 179613658 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:179613658A>G ENST00000360870.5 - 46 13691 c.13469T>C c.(13468-13470)aTt>aCt p.I4490T TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 620 Ig-like 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGTCATCAATCTTCTTTTG 0.313000 23 19 0 0 0.667858 0 0 DGKI 9162 broad.mit.edu 37 7 137271869 137271869 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:137271869G>T ENST00000453654.2 - 13 1038 c.499C>A c.(499-501)Ctg>Atg p.L167M DGKI_ENST00000288490.5_Missense_Mutation_p.L467M|DGKI_ENST00000446122.1_Missense_Mutation_p.L467M|DGKI_ENST00000424189.2_Missense_Mutation_p.L467M O75912 DGKI_HUMAN diacylglycerol kinase, iota activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GTTCGAGCCAGGTCATTCCCA 0.552000 46 81 7.7325e-45 1.03235e-44 0.870114 1 0 KCNN4 3783 broad.mit.edu 37 19 44284956 44284956 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:44284956C>T ENST00000262888.3 - 1 453 c.58G>A c.(58-60)Gag>Aag p.E20K NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 20 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TTCTCCTGCTCCAGCAAGCGC 0.662000 53 83 0 0 0.870114 0 0 RHOB 388 broad.mit.edu 37 2 20647449 20647449 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr2:20647449C>T ENST00000272233.4 + 1 615 c.223C>T c.(223-225)Ccg>Tcg p.P75S NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 75 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GCTCTCCTACCCGGACACCGA 0.647000 52 54 0 0 0.870114 0 0 ZNF331 55422 broad.mit.edu 37 19 54080062 54080062 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:54080062G>T ENST00000253144.9 + 7 1581 c.248G>T c.(247-249)tGg>tTg p.W83L ZNF331_ENST00000449416.1_Missense_Mutation_p.W83L|ZNF331_ENST00000513265.1_Missense_Mutation_p.W83L|ZNF331_ENST00000511154.1_Missense_Mutation_p.W83L|ZNF331_ENST00000511593.2_Missense_Mutation_p.W83L|ZNF331_ENST00000513999.1_Missense_Mutation_p.W83L|ZNF331_ENST00000512387.1_Missense_Mutation_p.W83L|ZNF331_ENST00000411977.2_Missense_Mutation_p.W83L NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GGCCGTAACTGGATATGTGAA 0.398000 T ? follicular thyroid adenoma 10 51 3.86212e-05 4.12067e-05 0.361761 1 0 SYPL1 6856 broad.mit.edu 37 7 105732326 105732326 + Missense_Mutation SNP C C A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:105732326C>A ENST00000455385.2 - 5 773 c.651G>T c.(649-651)gaG>gaT p.E217D SYPL1_ENST00000011473.2_Missense_Mutation_p.E235D|SYPL1_ENST00000470347.1_3'UTR NM_182715.2 NP_874384.1 Q16563 SYPL1_HUMAN synaptophysin-like 1 235 MARVEL. synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 GTAGGCTGGTCTCCTTGTACA 0.383000 35 39 2.38262e-10 2.72453e-10 0.853193 1 0 TP63 8626 broad.mit.edu 37 3 189586386 189586386 + Missense_Mutation SNP G G A rs113993967 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:189586386G>A ENST00000264731.3 + 8 1099 c.1010G>A c.(1009-1011)cGa>cAa p.R337Q TP63_ENST00000320472.5_Missense_Mutation_p.R337Q|TP63_ENST00000418709.2_Missense_Mutation_p.R337Q|TP63_ENST00000392460.3_Missense_Mutation_p.R337Q|TP63_ENST00000392461.3_Missense_Mutation_p.R243Q|TP63_ENST00000354600.5_Missense_Mutation_p.R243Q|TP63_ENST00000437221.1_Missense_Mutation_p.R243Q|TP63_ENST00000382063.4_Missense_Mutation_p.R252Q|TP63_ENST00000392463.2_Missense_Mutation_p.R243Q|TP63_ENST00000449992.1_Missense_Mutation_p.R158Q|TP63_ENST00000456148.1_Missense_Mutation_p.R243Q|TP63_ENST00000440651.2_Missense_Mutation_p.R337Q NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 337 R -> Q (in ADULT syndrome; confers novel transcription activation capacity on isoform 6). anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R337L(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GTCCTGGGCCGACGCTGCTTT 0.483000 HNSCC(45;0.13) 6 17 0 0 0.248553 0 0 MDN1 23195 broad.mit.edu 37 6 90359913 90359913 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr6:90359913C>G ENST00000369393.3 - 97 16151 c.16036G>C c.(16036-16038)Gac>Cac p.D5346H MDN1_ENST00000428876.1_Missense_Mutation_p.D5346H Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 5346 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTTCGATAGTCTCCTCTATTT 0.348000 12 1 0 0 0.479597 0 0 FLNC 2318 broad.mit.edu 37 7 128471003 128471003 + Silent SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr7:128471003C>G ENST00000325888.8 + 1 573 c.312C>G c.(310-312)ctC>ctG p.L104L FLNC_ENST00000346177.6_Silent_p.L104L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 104 Actin-binding.|CH 1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CCGTGGCCCTCGAGTTCCTCG 0.657000 32 37 0 0 0.834066 0 0 THOC2 57187 broad.mit.edu 37 X 122754808 122754808 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:122754808G>A ENST00000245838.8 - 32 4256 c.4225C>T c.(4225-4227)Cgc>Tgc p.R1409C THOC2_ENST00000355725.4_Missense_Mutation_p.R1409C|THOC2_ENST00000491737.1_Missense_Mutation_p.R1294C NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1409 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 ATTTTGCGGCGTTTTTGTTCT 0.398000 147 118 0 0 0.870114 0 0 DNAH1 25981 broad.mit.edu 37 3 52412779 52412779 + Missense_Mutation SNP G G T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr3:52412779G>T ENST00000420323.2 + 47 7621 c.7360G>T c.(7360-7362)Gac>Tac p.D2454Y NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2454 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCTCATGGCTGACCCGGCCAA 0.627000 68 62 6.15735e-50 8.30753e-50 0.870114 1 0 GPC5 2262 broad.mit.edu 37 13 92560246 92560246 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:92560246G>A ENST00000377067.3 + 6 1708 c.1336G>A c.(1336-1338)Gtc>Atc p.V446I NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 446 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AAATCCTGAAGTCAAAGTCAA 0.378000 36 38 0 0 0.834066 0 0 CXorf22 170063 broad.mit.edu 37 X 35993361 35993361 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:35993361G>A ENST00000297866.5 + 14 2418 c.2352G>A c.(2350-2352)caG>caA p.Q784Q NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 784 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TTTTGCTCCAGTTAGATACTG 0.358000 90 83 0 0 0.870114 0 0 RBBP6 5930 broad.mit.edu 37 16 24582981 24582981 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:24582981A>G ENST00000319715.4 + 18 5026 c.4594A>G c.(4594-4596)Agt>Ggt p.S1532G RBBP6_ENST00000381039.3_Missense_Mutation_p.S692G|RBBP6_ENST00000348022.2_Missense_Mutation_p.S1498G NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1532 Interaction with p53 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TTCCAAAAAAAGTAATTCTAG 0.373000 3 14 0 0 0.150653 0 0 CHD3 1107 broad.mit.edu 37 17 7802505 7802505 + Silent SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr17:7802505C>T ENST00000380358.4 + 14 2506 c.2505C>T c.(2503-2505)taC>taT p.Y835Y CHD3_ENST00000330494.7_Silent_p.Y776Y|CHD3_ENST00000358181.4_Silent_p.Y776Y NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 776 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TCTTCCTCTACTCACTCTACA 0.567000 58 18 0 0 0.870114 0 0 FAM43B 163933 broad.mit.edu 37 1 20880268 20880270 + In_Frame_Del DEL GAG GAG - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:20880268_20880270delGAG ENST00000332947.4 + 1 1337_1339 c.802_804delGAG c.(802-804)gagdel p.E272del NM_207334.2 NP_997217.1 Q6ZT52 FA43B_HUMAN family with sequence similarity 43, member B 272 large_intestine(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) ggaggaggacgaggaggaggagg 0.744 7 11 --- --- --- --- GRHL3 57822 broad.mit.edu 37 1 24663111 24663112 + Frame_Shift_Ins INS - - A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr1:24663111_24663112insA ENST00000361548.4 + 4 636_637 c.406_407insA c.(406-408)gagfs p.E136fs GRHL3_ENST00000356046.2_Frame_Shift_Ins_p.E90fs|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Frame_Shift_Ins_p.E141fs|GRHL3_ENST00000342072.4_Frame_Shift_Ins_p.E43fs|GRHL3_ENST00000350501.5_Frame_Shift_Ins_p.E136fs NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 136 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GATGAGCTTGGAGGGGGCCTTG 0.579 27 85 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85611708 85611709 + Frame_Shift_Del DEL CA CA - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr4:85611708_85611709delCA ENST00000322366.6 - 60 9669_9670 c.9262_9263delTG c.(9262-9264)tggfs p.W3088fs WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3105 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCCATCTCCCACACACACACA 0.510 7 114 --- --- --- --- KDM3B 51780 broad.mit.edu 37 5 137722024 137722028 + Frame_Shift_Del DEL GGACT GGACT - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:137722024_137722028delGGACT ENST00000314358.5 + 7 1294_1298 c.1094_1098delGGACT c.(1093-1098)aggactfs p.RT365fs KDM3B_ENST00000394866.1_Frame_Shift_Del_p.RT21fs NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 365 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GAAAACGGCAGGACTCTGGTGGTGC 0.551 64 150 --- --- --- --- RUFY1 80230 broad.mit.edu 37 5 178977642 178977642 + Frame_Shift_Del DEL G G - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr5:178977642delG ENST00000377001.2 + 1 72 c.72delG c.(70-72)ccgfs p.P24fs RUFY1_ENST00000319449.4_Frame_Shift_Del_p.P24fs Q96T51 RUFY1_HUMAN RUN and FYVE domain containing 1 24 endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) agccggggccggggcCCGGGT 0.746 HNSCC(44;0.11) 2 4 --- --- --- --- GDF6 392255 broad.mit.edu 37 8 97157110 97157111 + Frame_Shift_Ins INS - - A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr8:97157110_97157111insA ENST00000287020.5 - 2 1147_1148 c.1048_1049insT c.(1048-1050)tccfs p.S350fs NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 350 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) GCGTAGCCTGGACTTCTTGCCG 0.693 8 13 --- --- --- --- NTRK2 4915 broad.mit.edu 37 9 87356831 87356837 + Frame_Shift_Del DEL TAATTTA TAATTTA - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr9:87356831_87356837delTAATTTA ENST00000304053.6 + 10 1667_1673 c.1184_1190delTAATTTA c.(1183-1191)gtaatttatfs p.VIY395fs NTRK2_ENST00000277120.3_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.VIY239fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000323115.4_Frame_Shift_Del_p.VIY395fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.VIY395fs NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 395 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TATCCTGATGTAATTTATGAAGGTAGC 0.309 TSP Lung(25;0.17) 7 19 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119549465 119549466 + Frame_Shift_Ins INS - - GA TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr11:119549465_119549466insGA ENST00000264025.3 - 2 619_620 c.89_90insTC c.(88-90)tccfs p.S30fs PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Frame_Shift_Ins_p.S30fs|PVRL1_ENST00000340882.2_Frame_Shift_Ins_p.S30fs NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 30 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GGACCACCTGGGAGTGGACGCC 0.594 6 12 --- --- --- --- DIS3 22894 broad.mit.edu 37 13 73337684 73337684 + Frame_Shift_Del DEL T T - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr13:73337684delT ENST00000377767.4 - 16 2132 c.2032delA c.(2032-2034)attfs p.I678fs DIS3_ENST00000377780.4_Frame_Shift_Del_p.I648fs|DIS3_ENST00000545453.1_Frame_Shift_Del_p.I516fs NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 678 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TCCTCATGAATTTTTTTTGCA 0.358 Multiple Myeloma(4;0.011) 7 76 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-519)gacaagfs p.DK172fs IL32_ENST00000534507.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 22 284 --- --- --- --- CX3CL1 6376 broad.mit.edu 37 16 57416702 57416708 + Frame_Shift_Del DEL ACCATGG ACCATGG - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:57416702_57416708delACCATGG ENST00000565912.1 + 2 3544_3550 c.838_844delACCATGG c.(838-846)accatggacfs p.TMD280fs CX3CL1_ENST00000563383.1_Frame_Shift_Del_p.TMD324fs|CX3CL1_ENST00000006053.6_Frame_Shift_Del_p.TMD318fs P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 318 Mucin-like stalk. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 CATCCATGCCACCATGGACCCCCAGAG 0.662 17 72 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226895 88226897 + RNA DEL TGG TGG - rs62047004 TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr16:88226895_88226897delTGG ENST00000568587.1 - 0 91 gtggtggagatggtggtggtggg 0.537 2 4 --- --- --- --- RP11-161I6.2 0 broad.mit.edu 37 18 2089465 2089466 + RNA DEL CA CA - rs150342638 by1000genomes TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr18:2089465_2089466delCA ENST00000579097.1 - 0 310 ACTGCCCCCCCACCCACTCACC 0.525 4 2 --- --- --- --- NKG7 4818 broad.mit.edu 37 19 51875242 51875244 + In_Frame_Del DEL AGG AGG - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chr19:51875242_51875244delAGG ENST00000221978.5 - 3 568_570 c.389_391delCCT c.(388-393)tcctgg>tgg p.S130del NKG7_ENST00000600427.1_Intron|NKG7_ENST00000595217.1_In_Frame_Del_p.P124del NM_005601.3 NP_005592.1 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 130 integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TAGAAGGACCAGGAGAAGAAGGT 0.611 26 74 --- --- --- --- RP1-30E17.2 0 broad.mit.edu 37 X 127718074 127718075 + RNA DEL AG AG - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:127718074_127718075delAG ENST00000449485.1 - 0 158 CTCTACATACagagagagagag 0.401 2 4 --- --- --- --- DDX26B 203522 broad.mit.edu 37 X 134680317 134680317 + Frame_Shift_Del DEL T T - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:134680317delT ENST00000370752.4 + 4 686 c.352delT c.(352-354)tttfs p.F119fs DDX26B_ENST00000481908.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 119 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) GAGAAATCCATTTTTTTTAGA 0.274 34 41 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4838b5a9-968c-4178-bffb-3fafe1f6dc09 c1da8eed-4919-4ba5-a735-3fba476c18a7 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)accaca>aca p.52_53TT>T CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 7 457 --- --- --- ---