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 ZFHX4 79776 broad.mit.edu 37 8 77617904 77617904 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr8:77617904G>A ENST00000521891.2 + 2 2029 c.1581G>A c.(1579-1581)gcG>gcA p.A527A ZFHX4_ENST00000518282.1_Silent_p.A527A|ZFHX4_ENST00000050961.6_Silent_p.A527A|ZFHX4_ENST00000455469.2_Silent_p.A527A|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 527 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) CCTCCTCGGCGACTGTTTCTG 0.433000 HNSCC(33;0.089) 27 224 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661636 22661636 + RNA SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr22:22661636G>A ENST00000426066.1 + 0 500 NR_027293.1 TGTGCATCGCGGAGCAGCCTT 0.428000 4 259 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 385 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183907382 183907382 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:183907382G>A ENST00000429586.2 + 13 1336 c.1151G>A c.(1150-1152)cGc>cAc p.R384H EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.R378H NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 384 ABC transporter 1. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCCACGACCGCAACTTCTTG 0.587000 4 233 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1643096 1643096 + Missense_Mutation SNP T T A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:1643096T>A ENST00000252804.4 - 20 4101 c.4051A>T c.(4051-4053)Aca>Tca p.T1351S NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1351 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CGTGGTCTTGTTTTCTTGGTC 0.562000 6 123 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 8 1616 0 0 1 0 0 ZNF408 79797 broad.mit.edu 37 11 46726796 46726796 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:46726796C>T ENST00000311764.2 + 5 1776 c.1546C>T c.(1546-1548)Cgg>Tgg p.R516W NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGGGCATTTGCGGCTCCACAC 0.642000 6 422 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083776 17083776 + RNA SNP C C A rs56318124 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:17083776C>A ENST00000455405.2 - 0 812 p.R674L(1) CACAGAGACACGCGTGAAGAC 0.537000 6 132 2.32078e-09 2.37657e-09 1 1 0 MYOZ3 91977 broad.mit.edu 37 5 150050154 150050154 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:150050154G>A ENST00000297130.4 + 3 369 c.170G>A c.(169-171)cGc>cAc p.R57H MYOZ3_ENST00000517768.1_Missense_Mutation_p.R57H NM_001122853.2|NM_133371.4 NP_001116325.1|NP_588612.2 Q8TDC0 MYOZ3_HUMAN myozenin 3 57 Binding to ACTN2, PPP3CA and TCAP. sarcomere protein binding large_intestine(2)|lung(1)|skin(2) 5 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGAGGCAGCGCCGTGTGCAG 0.582000 11 72 0 0 1 0 0 ZNF717 100131827 broad.mit.edu 37 3 75790798 75790798 + Translation_Start_Site SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:75790798G>A ENST00000478296.1 - 0 273 ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000422325.1_Silent_p.D49D C9JSV9 C9JSV9_HUMAN zinc finger protein 717 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCAGCATCACGTCCCTGTACA 0.502000 10 49 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 4 66 0 0 1 0 0 CASKIN1 57524 broad.mit.edu 37 16 2228602 2228602 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr16:2228602G>A ENST00000343516.6 - 20 4337 c.4245C>T c.(4243-4245)atC>atT p.I1415I NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 1415 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 ACATGCTGCCGATGTCGTCCA 0.741000 12 153 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824819 54824819 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr20:54824819G>A ENST00000243911.2 + 1 1032 c.920G>A c.(919-921)cGc>cAc p.R307H NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 344 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CTGGAATTGCGCAACACCTTT 0.517000 5 665 0 0 1 0 0 GPT2 84706 broad.mit.edu 37 16 46943627 46943627 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr16:46943627G>A ENST00000440783.2 + 6 973 c.308G>A c.(307-309)gGc>gAc p.G103D GPT2_ENST00000340124.4_Missense_Mutation_p.G203D NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 203 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TCCGGGGGCGGCAAGTCACGG 0.537000 4 272 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83029563 83029563 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:83029563C>T ENST00000307792.3 - 11 1614 c.1147G>A c.(1147-1149)Gcc>Acc p.A383T SEMA3E_ENST00000427262.1_Missense_Mutation_p.A323T NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 383 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) ACTTTGCTGGCACACTGAAAA 0.373000 54 299 0 0 1 0 0 HRH2 0 broad.mit.edu 37 5 175110313 175110313 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:175110313C>T ENST00000231683.2 + 1 1850 c.77C>T c.(76-78)gCg>gTg p.A26V HRH2_ENST00000377291.2_Missense_Mutation_p.A26V NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 26 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) GTGGTCCTTGCGGTCCTCATC 0.587000 6 947 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 6 94 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25442226 25442226 + Nonsense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr20:25442226G>A ENST00000278886.6 - 21 3701 c.3628C>T c.(3628-3630)Cag>Tag p.Q1210* NINL_ENST00000422516.1_Nonsense_Mutation_p.Q861* NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1210 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TGATGTTCCTGATTCAGGCAT 0.468000 63 267 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151970855 151970855 + Missense_Mutation SNP G G C TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:151970855G>C ENST00000355193.2 - 7 1165 c.947C>G c.(946-948)aCc>aGc p.T316S KMT2C_ENST00000262189.6_Missense_Mutation_p.T316S lysine (K)-specific methyltransferase 2C p.T316S(2) ATCCTGAAAGGTGCCGGCTCC 0.433000 9 1557 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606468 21606468 + Missense_Mutation SNP C C T rs142651314 byFrequency TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:21606468C>T ENST00000392288.2 + 4 1116 c.1007C>T c.(1006-1008)cCt>cTt p.P336L ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TTCTCAACCCCTACTAAACAT 0.348000 6 488 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50642759 50642759 + Splice_Site SNP A A G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:50642759A>G ENST00000371824.1 + 3 507 c.e3-1 ELAVL4_ENST00000371819.1_Splice_Site|ELAVL4_ENST00000492299.1_Splice_Site|ELAVL4_ENST00000371823.4_Splice_Site|ELAVL4_ENST00000448907.2_Splice_Site|ELAVL4_ENST00000357083.4_Splice_Site|ELAVL4_ENST00000371827.1_Splice_Site|ELAVL4_ENST00000371821.1_Splice_Site P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 ATATTTCCACAGGACAGAGTT 0.403000 20 176 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 13 127 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44890662 44890662 + Missense_Mutation SNP C C T rs150036734 byFrequency TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:44890662C>T ENST00000330997.4 - 4 1809 c.1745G>A c.(1744-1746)aGa>aAa p.R582K ZNF285_ENST00000544719.2_Missense_Mutation_p.R582K|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.R589K NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CTCATGTAGTCTTTGATGAGT 0.413000 5 437 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12516909 12516909 + Missense_Mutation SNP T T C TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:12516909T>C ENST00000380682.1 + 2 658 c.152T>C c.(151-153)tTc>tCc p.F51S NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 51 WW. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CGAGACTACTTCATCAAGTAG 0.488000 42 248 0 0 1 0 0 HNRNPM 4670 broad.mit.edu 37 19 8550640 8550640 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:8550640G>A ENST00000348943.3 + 15 1443 c.1211G>A c.(1210-1212)cGc>cAc p.R404H HNRNPM_ENST00000325495.4_Missense_Mutation_p.R443H NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 443 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 GTCATGGACCGCATGGGCTCC 0.711000 6 699 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 7 874 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53810001 53810001 + Nonsense_Mutation SNP G G T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:53810001G>T ENST00000288139.3 + 36 4469 c.4351G>T c.(4351-4353)Gag>Tag p.E1451* CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.E323*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E1416*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E1431* NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1431 Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CAACCCCGGGGAGGAGTATAC 0.507000 23 554 4.26978e-12 4.39354e-12 1 1 0 TLK2 11011 broad.mit.edu 37 17 60679418 60679418 + Missense_Mutation SNP T T A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:60679418T>A ENST00000582809.1 + 20 1992 c.1289T>A c.(1288-1290)gTa>gAa p.V430E TLK2_ENST00000326270.9_Missense_Mutation_p.V601E|TLK2_ENST00000343388.7_Missense_Mutation_p.V547E|TLK2_ENST00000542523.1_Missense_Mutation_p.V547E|TLK2_ENST00000346027.5_Missense_Mutation_p.V579E Q86UE8 TLK2_HUMAN tousled-like kinase 2 601 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 ATTCTTTTAGTAAATGGTACA 0.343000 4 190 0 0 1 0 0 AP000346.2 0 broad.mit.edu 37 22 23980718 23980718 + RNA SNP C C G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr22:23980718C>G ENST00000390329.2 - 0 191 AP000347.4_ENST00000430707.2_RNA CTGGGTACAGCGAGAAGGGCT 0.522000 5 51 0 0 1 0 0 STK40 83931 broad.mit.edu 37 1 36807372 36807372 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:36807372C>T ENST00000373129.3 - 12 1698 c.1292G>A c.(1291-1293)cGc>cAc p.R431H STK40_ENST00000359297.2_3'UTR|STK40_ENST00000373130.3_Missense_Mutation_p.R436H|STK40_ENST00000373132.3_Missense_Mutation_p.R431H NM_032017.1 NP_114406.1 Q8N2I9 STK40_HUMAN serine/threonine kinase 40 431 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) CCGCAGGTAGCGCTGCGCCAG 0.672000 55 221 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38279439 38279439 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr8:38279439G>A ENST00000447712.2 - 8 1898 c.957C>T c.(955-957)acC>acT p.T319T FGFR1_ENST00000326324.6_Silent_p.T228T|FGFR1_ENST00000532791.1_Silent_p.T319T|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000425967.3_Silent_p.T350T|FGFR1_ENST00000397091.5_Silent_p.T317T|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397108.4_Silent_p.T317T|FGFR1_ENST00000397113.2_Silent_p.T317T|FGFR1_ENST00000356207.5_Silent_p.T230T|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000335922.5_Silent_p.T311T NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 319 Ig-like C2-type 3. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TCTCTTTGTCGGTGGTATTAA 0.498000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 11 174 0 0 1 0 0 CHST14 113189 broad.mit.edu 37 15 40764233 40764233 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr15:40764233G>A ENST00000306243.5 + 1 1074 c.821G>A c.(820-822)cGc>cAc p.R274H CHST14_ENST00000559991.1_Missense_Mutation_p.R249H NM_130468.3 NP_569735.1 Q8NCH0 CHSTE_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 274 carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding cervix(1)|large_intestine(1)|prostate(2) 4 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) GACCCTGAGCGCATGAATGAG 0.587000 5 505 0 0 1 0 0 MTSS1L 92154 broad.mit.edu 37 16 70713713 70713713 + Nonsense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr16:70713713G>A ENST00000338779.6 - 5 632 c.358C>T c.(358-360)Cag>Tag p.Q120* NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 120 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 TTGTCCAGCTGGTTGGCCGCC 0.697000 12 76 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809344 18809344 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:18809344C>T ENST00000400664.1 + 1 1921 c.1869C>T c.(1867-1869)ttC>ttT p.F623F NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 623 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTGACACGTTCGCCCTGGCGC 0.667000 12 99 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112048243 112048243 + Nonsense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:112048243G>A ENST00000371959.3 - 5 1707 c.1708C>T c.(1708-1710)Cga>Tga p.R570* AMOT_ENST00000524145.1_Nonsense_Mutation_p.R570*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338* NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 570 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 TCGATGTGTCGTCTTTGGTCC 0.512000 167 879 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63257304 63257304 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:63257304G>A ENST00000323865.3 - 1 476 c.243C>T c.(241-243)acC>acT p.T81T RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 81 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CCATGAGGTCGGTGACCGCCA 0.612000 26 86 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27150261 27150261 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:27150261C>T ENST00000288699.6 + 4 719 c.561C>T c.(559-561)atC>atT p.I187I DPYSL5_ENST00000401478.1_Silent_p.I187I NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 187 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGGGGCAATCGCCCGCGTCC 0.527000 52 162 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77896690 77896690 + Nonstop_Mutation SNP T T A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr18:77896690T>A ENST00000262198.4 + 4 3849 c.3394T>A c.(3394-3396)Taa>Aaa p.*1132K NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 0 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) ATATGAACCATAAAACTTGCA 0.303000 10 57 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994097 144994097 + Missense_Mutation SNP G G T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr8:144994097G>T ENST00000322810.4 - 32 10472 c.10303C>A c.(10303-10305)Ctg>Atg p.L3435M PLEC_ENST00000345136.3_Missense_Mutation_p.L3298M|PLEC_ENST00000354589.3_Missense_Mutation_p.L3298M|PLEC_ENST00000436759.2_Missense_Mutation_p.L3325M|PLEC_ENST00000354958.2_Missense_Mutation_p.L3276M|PLEC_ENST00000357649.2_Missense_Mutation_p.L3302M|PLEC_ENST00000527096.1_Missense_Mutation_p.L3321M|PLEC_ENST00000356346.3_Missense_Mutation_p.L3284M|PLEC_ENST00000398774.2_Missense_Mutation_p.L3266M NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3435 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCCTGCCGCAGGGTCTCCACC 0.637000 77 317 6.09464e-36 6.58963e-36 1 1 0 KCNMB1 0 broad.mit.edu 37 5 169812420 169812420 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:169812420C>T ENST00000274629.4 - 2 474 c.32G>A c.(31-33)cGg>cAg p.R11Q KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.R11Q NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 11 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) TGTCTCTCCCCGCTTCTGGGC 0.537000 67 291 0 0 1 0 0 CAPN3 825 broad.mit.edu 37 15 42695097 42695097 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr15:42695097C>T ENST00000397163.3 + 13 1861 c.1642C>T c.(1642-1644)Cgc>Tgc p.R548C CAPN3_ENST00000356316.3_Missense_Mutation_p.R461C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.R36C|CAPN3_ENST00000357568.3_Missense_Mutation_p.R548C|CAPN3_ENST00000349748.3_Missense_Mutation_p.R500C|CAPN3_ENST00000318023.7_Missense_Mutation_p.R548C NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 548 Domain III. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CCAGCGCTTCCGCCTGCCTCC 0.592000 79 416 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42471441 42471441 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:42471441G>A ENST00000545399.1 - 22 3165 c.3012C>T c.(3010-3012)taC>taT p.Y1004Y ATP1A3_ENST00000543770.1_Silent_p.Y1002Y|ATP1A3_ENST00000602133.1_Silent_p.Y961Y|ATP1A3_ENST00000302102.5_Silent_p.Y991Y NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 991 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GGATTTCGTCGTAGACGAAGA 0.652000 37 153 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37603002 37603002 + Missense_Mutation SNP G G T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr21:37603002G>T ENST00000399151.3 + 14 2005 c.1920G>T c.(1918-1920)aaG>aaT p.K640N NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 640 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTGCCAGCAAGAACATTTTTG 0.547000 59 270 7.89702e-26 8.32706e-26 1 1 0 KCNC1 3746 broad.mit.edu 37 11 17758047 17758047 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:17758047C>T ENST00000379472.3 + 1 528 c.498C>T c.(496-498)ggC>ggT p.G166G KCNC1_ENST00000265969.6_Silent_p.G166G NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 166 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GCCGGCCTGGCGGCTTTTGGC 0.687000 21 71 0 0 1 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197393 39197393 + Missense_Mutation SNP T T C TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:39197393T>C ENST00000306271.4 - 1 320 c.257A>G c.(256-258)tAc>tGc p.Y86C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 86 Missing (in allele KAP1.7). extracellular region|keratin filament p.Y86C(4) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGTCTGGTAGCAGCTTGG 0.587000 6 396 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823844 38823844 + Silent SNP G G C TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr22:38823844G>C ENST00000303592.3 - 2 552 c.294C>G c.(292-294)ggC>ggG p.G98G NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 98 Val/Gly/Ala/Pro stretch. synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) ccgccgccgggccccccgccg 0.682000 6 88 0 0 1 0 0 DUSP9 1852 broad.mit.edu 37 X 152915638 152915638 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:152915638C>T ENST00000342782.3 + 4 1298 c.1033C>T c.(1033-1035)Cgg>Tgg p.R345W DUSP9_ENST00000370167.4_Missense_Mutation_p.R345W Q99956 DUS9_HUMAN dual specificity phosphatase 9 345 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCGCAGCTTGCGGCTGGAGGA 0.612000 7 885 0 0 1 0 0 GFPT2 9945 broad.mit.edu 37 5 179763567 179763567 + Missense_Mutation SNP G G C TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:179763567G>C ENST00000253778.8 - 3 295 c.126C>G c.(124-126)atC>atG p.I42M NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 42 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TATTCCCATCGATCGCCACAC 0.473000 179 756 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100491685 100491685 + Missense_Mutation SNP C C T rs17234982 byFrequency TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:100491685C>T ENST00000302913.4 - 2 307 c.169G>A c.(169-171)Ggg>Agg p.G57R ACHE_ENST00000411582.1_Missense_Mutation_p.G57R|ACHE_ENST00000241069.5_Missense_Mutation_p.G57R|ACHE_ENST00000428317.1_Missense_Mutation_p.G57R|ACHE_ENST00000412389.1_Missense_Mutation_p.G57R|ACHE_ENST00000419336.2_Missense_Mutation_p.G57R NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 57 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) ACAGGGCCCCCGGGGGTCTTC 0.701000 19 79 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53420520 53420520 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr13:53420520G>A ENST00000377942.3 - 1 2255 c.2052C>T c.(2050-2052)cgC>cgT p.R684R PCDH8_ENST00000338862.4_Silent_p.R684R NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 684 Cadherin 6. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CCCTGAACACGCGACCGGGTG 0.706000 26 91 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304896 102304896 + RNA SNP C C G rs145942024 by1000genomes TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr15:102304896C>G ENST00000561463.1 + 0 12942 GAAGACACTCCTGGAGGAGTC 0.562000 4 92 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34040439 34040439 + Missense_Mutation SNP G G T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr15:34040439G>T ENST00000389232.4 + 54 8184 c.8114G>T c.(8113-8115)cGa>cTa p.R2705L RYR3_ENST00000415757.3_Missense_Mutation_p.R2705L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2705 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R2705Q(2) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAGAAGCTTCGAAGTGTGTCC 0.577000 15 133 1.52009e-12 1.57174e-12 1 1 0 FMN2 56776 broad.mit.edu 37 1 240371129 240371129 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:240371129C>T ENST00000319653.9 + 5 3247 c.3017C>T c.(3016-3018)gCg>gTg p.A1006V NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1006 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTTCCCGGAGCGGGCATACCC 0.721000 7 72 0 0 1 0 0 MCMDC2 157777 broad.mit.edu 37 8 67809157 67809157 + Missense_Mutation SNP C C T rs142662778 byFrequency TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr8:67809157C>T ENST00000422365.2 + 12 1760 c.1589C>T c.(1588-1590)gCg>gTg p.A530V MCMDC2_ENST00000396592.3_Missense_Mutation_p.A530V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A467V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A530V NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 530 DNA replication ATP binding|DNA binding p.A525V(1)|p.A530V(1) endometrium(2)|kidney(2)|lung(5) 9 CTGTTTTATGCGGCTTCTAGA 0.398000 6 640 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116046089 116046089 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr10:116046089C>T ENST00000603594.1 + 11 1710 c.1389C>T c.(1387-1389)ggC>ggT p.G463G VWA2_ENST00000392982.3_Silent_p.G463G NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 463 VWFA 2. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) AGGTTGCGGGCCCAGCGCGTC 0.657000 39 255 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64085080 64085080 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:64085080G>A ENST00000295902.6 - 8 2767 c.2182C>T c.(2182-2184)Cgc>Tgc p.R728C PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784C|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 728 Arg-rich. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CTCCGCTGGCGCATAAATTGG 0.617000 4 203 0 0 1 0 0 NKRF 55922 broad.mit.edu 37 X 118725258 118725258 + Nonsense_Mutation SNP T T A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:118725258T>A ENST00000371527.1 - 2 782 c.130A>T c.(130-132)Aaa>Taa p.K44* NKRF_ENST00000542113.1_Nonsense_Mutation_p.K59*|NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000304449.5_Nonsense_Mutation_p.K44* NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 44 Active repression domain. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 GCTTGCTTTTTAGGAGGATTT 0.353000 99 492 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119535865 119535865 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:119535865C>T ENST00000264025.3 - 6 1676 c.1146G>A c.(1144-1146)cgG>cgA p.R382R PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 382 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 p.R382R(1) 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) TGAAGGTGTGCCGGCGCCGAC 0.657000 5 382 0 0 1 0 0 NCBP2L 392517 broad.mit.edu 37 X 107037530 107037530 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:107037530G>A ENST00000372379.1 + 1 80 c.80G>A c.(79-81)cGt>cAt p.R27H RP5-820B18.3_ENST00000509000.1_RNA nuclear cap binding protein subunit 2-like p.R315P(1) large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 5 TTCAGTGGCCGTAAATTTCAG 0.433000 4 269 0 0 1 0 0 KRTAP11-1 0 broad.mit.edu 37 21 32253572 32253572 + Missense_Mutation SNP C C A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr21:32253572C>A ENST00000332378.4 - 1 302 c.272G>T c.(271-273)tGt>tTt p.C91F NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 91 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 GTTGGAAATACAGGTAGTTTG 0.567000 37 215 3.76114e-14 3.92707e-14 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1272055 1272055 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:1272055G>A ENST00000447027.1 + 31 14012 c.13954G>A c.(13954-13956)Gcc>Acc p.A4652T MUC5B_ENST00000529681.1_Missense_Mutation_p.A4649T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4649 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.A4649T(1)|p.A4604T(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) cacccacaccgccagagtgct 0.612000 17 121 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182591715 182591715 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:182591715C>T ENST00000323116.5 + 19 2424 c.2164C>T c.(2164-2166)Cat>Tat p.H722Y NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 722 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ATCATGTGGCCATTTTCATAG 0.398000 53 283 0 0 1 0 0 CES4A 283848 broad.mit.edu 37 16 67040714 67040714 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr16:67040714G>A ENST00000326686.5 + 13 1511 c.1511G>A c.(1510-1512)cGc>cAc p.R504H CES4A_ENST00000540579.1_Missense_Mutation_p.R406H|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000338718.4_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000397205.2_Intron Q5XG92 EST4A_HUMAN carboxylesterase 4A 504 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 AACTTTGCCCGCACAGGGTGA 0.567000 5 274 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 13 245 0 0 1 0 0 ZNF622 90441 broad.mit.edu 37 5 16453182 16453182 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:16453182G>A ENST00000308683.2 - 5 1372 c.1246C>T c.(1246-1248)Cgg>Tgg p.R416W NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 416 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 ACGGCCTTCCGATTTTTGGCA 0.498000 9 508 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390463 45390463 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:45390463G>A ENST00000371438.1 + 2 550 c.192G>A c.(190-192)caG>caA p.Q64Q RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 64 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcagcaacagcagc 0.736000 5 108 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 5 31 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155757 12155757 + Missense_Mutation SNP C C A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:12155757C>A ENST00000602107.1 - 5 599 c.600G>T c.(598-600)agG>agT p.R200S CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S C9JN71 ZN878_HUMAN zinc finger protein 878 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAACCTGAATGCTT 0.423000 9 850 6.42651e-13 6.6773e-13 1 1 0 IFNA7 3444 broad.mit.edu 37 9 21202008 21202008 + Silent SNP A A G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr9:21202008A>G ENST00000239347.3 - 1 196 c.157T>C c.(157-159)Ttg>Ctg p.L53L NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 53 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CTGTCCTTCAAGCAGGAGAAA 0.517000 6 560 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89347349 89347349 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr16:89347349G>A ENST00000301030.4 - 9 6061 c.5601C>T c.(5599-5601)tgC>tgT p.C1867C ANKRD11_ENST00000378330.2_Silent_p.C1867C NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1867 Pro-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CAGCCGGTGGGCAGTGCAAAG 0.622000 21 235 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184104344 184104344 + Missense_Mutation SNP T T G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:184104344T>G ENST00000204604.1 + 16 2243 c.1997T>G c.(1996-1998)gTg>gGg p.V666G CHRD_ENST00000545352.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|EIF2B5_ENST00000444495.1_Intron NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 666 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCGAGGGGGTGCGGGCGCTG 0.726000 11 33 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 6 73 0 0 1 0 0 HOXB5 3215 broad.mit.edu 37 17 46670813 46670813 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:46670813C>T ENST00000239151.5 - 1 510 c.232G>A c.(232-234)Gcg>Acg p.A78T HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA NM_002147.3 NP_002138.1 P09067 HXB5_HUMAN homeobox B5 78 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 TGGGCGGGCGCGGGGAAGGCG 0.687000 13 92 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32482250 32482250 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr22:32482250C>T ENST00000266088.4 + 10 1315 c.1065C>T c.(1063-1065)tgC>tgT p.C355C SLC5A1_ENST00000543737.1_Silent_p.C228C NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 355 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 AGAAATATTGCGGTACCAAGG 0.468000 5 605 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27431523 27431523 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:27431523G>A ENST00000295736.5 - 22 3302 c.3232C>T c.(3232-3234)Ccg>Tcg p.P1078S SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P1087S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P1074S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P959S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P954S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P1074S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P959S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P963S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P628S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P1070S NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 1078 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 TTCCAGAGCGGCACATAACGG 0.373000 6 653 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45288266 45288266 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:45288266C>T ENST00000372192.3 - 22 3563 c.3433G>A c.(3433-3435)Gca>Aca p.A1145T PTCH2_ENST00000447098.2_Intron NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 1145 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GAGGAGGATGCCCCCCACCTA 0.627000 Basal Cell Nevus syndrome 5 446 0 0 1 0 0 FAM86C1 55199 broad.mit.edu 37 11 71507263 71507263 + Silent SNP A A G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:71507263A>G ENST00000528685.1 + 3 360 c.360A>G c.(358-360)acA>acG p.T120T FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000346333.6_Intron Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 0 lung(1) 1 CTGTCCCTACAGGACTCCAGT 0.627000 6 399 0 0 1 0 0 TRBC2 0 broad.mit.edu 37 7 142498924 142498924 + RNA SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:142498924C>T ENST00000466254.1 + 0 200 AGGAGCAGCCCGCCCTCAATG 0.632000 45 474 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) 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) aggaggaggaagaggaggagg 0.572000 4 58 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50966564 50966564 + Silent SNP C C T rs149391137 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr10:50966564C>T ENST00000374103.4 - 2 160 c.75G>A c.(73-75)ccG>ccA p.P25P OGDHL_ENST00000419399.1_Silent_p.P25P|OGDHL_ENST00000432695.1_Intron NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 25 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 AGCCAAACACCGGGACGTCAT 0.627000 43 195 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91739306 91739306 + Silent SNP T T A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:91739306T>A ENST00000370425.3 - 34 3833 c.3735A>T c.(3733-3735)ggA>ggT p.G1245G HFM1_ENST00000294696.5_Silent_p.G477G|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.G924G NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1245 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GTCTAACTTTTCCATAGATTT 0.313000 55 584 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140712177 140712177 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:140712177C>T ENST00000517417.1 + 1 1926 c.1926C>T c.(1924-1926)ctC>ctT p.L642L PCDHGA1_ENST00000378105.3_Silent_p.L642L NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAGAGTCTCGTGGTGGCCG 0.701000 26 277 0 0 1 0 0 C1RL 51279 broad.mit.edu 37 12 7254566 7254566 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:7254566G>A ENST00000266542.4 - 3 510 c.418C>T c.(418-420)Cgc>Tgc p.R140C C1RL_ENST00000544702.1_Missense_Mutation_p.R140C|C1RL_ENST00000545337.1_Missense_Mutation_p.R140C|C1RL_ENST00000545280.1_Intron NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 140 CUB. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GGCTGTGTGCGGAAGGTCAGC 0.622000 7 787 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7570984 7570984 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:7570984G>A ENST00000399429.3 - 3 816 c.676C>T c.(676-678)Cgt>Tgt p.R226C NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 226 VWFA 1. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCTACCAGACGATCTTGAATT 0.373000 41 217 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 10 284 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146058966 146058966 + Silent SNP G G A rs146975610 by1000genomes TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:146058966G>A ENST00000454497.2 - 21 2903 c.2766C>T c.(2764-2766)agC>agT p.S922S OTUD4_ENST00000447906.2_Silent_p.S987S|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 986 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) TTTCTTTCAGGCTTTGAATGG 0.453000 6 771 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371343 240371343 + Silent SNP G G T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:240371343G>T ENST00000319653.9 + 5 3461 c.3231G>T c.(3229-3231)ccG>ccT p.P1077P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1077 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TACCCCCTCCGCCCCCACTTC 0.731000 5 91 0.014758 0.014758 1 1 0 HDLBP 3069 broad.mit.edu 37 2 242179464 242179464 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:242179464C>T ENST00000391975.1 - 18 2470 c.2243G>A c.(2242-2244)gGc>gAc p.G748D HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 748 KH 9. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GCGAATTTTGCCGCCCCCCTT 0.542000 5 587 0 0 1 0 0 CD72 971 broad.mit.edu 37 9 35616044 35616044 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr9:35616044G>A ENST00000396757.1 - 6 748 c.584C>T c.(583-585)aCg>aTg p.T195M CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.T195M P21854 CD72_HUMAN CD72 molecule 195 axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGTCTCCTTCGTCTTCTGTCT 0.577000 5 486 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 6 169 4.68919e-08 4.77893e-08 1 1 0 BPIFB6 128859 broad.mit.edu 37 20 31624301 31624301 + Missense_Mutation SNP G G A rs145056603 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr20:31624301G>A ENST00000349552.1 + 7 628 c.628G>A c.(628-630)Gca>Aca p.A210T NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 210 extracellular region lipid binding TCTGATGTCCGCACCAGCCAC 0.587000 6 794 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210257 100210257 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:100210257C>T ENST00000317233.4 - 14 2101 c.1866G>A c.(1864-1866)ccG>ccA p.P622P AFF3_ENST00000409579.1_Silent_p.P647P|AFF3_ENST00000409236.1_Silent_p.P622P|AFF3_ENST00000356421.2_Silent_p.P647P NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 622 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TGGTGGGCTCCGGGGGGACCA 0.736000 9 166 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99780445 99780445 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:99780445G>A ENST00000426455.1 + 4 726 c.319G>A c.(319-321)Gcc>Acc p.A107T STAG3_ENST00000394018.2_Missense_Mutation_p.A107T|STAG3_ENST00000317296.5_Missense_Mutation_p.A107T Q9UJ98 STAG3_HUMAN stromal antigen 3 107 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGTGAAAGCCGCCAAAAGTGA 0.463000 7 1370 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554675 85554675 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:85554675C>T ENST00000377386.3 - 2 642 c.180G>A c.(178-180)ccG>ccA p.P60P TGOLN2_ENST00000444342.2_Silent_p.P60P|TGOLN2_ENST00000409015.1_Silent_p.P60P|TGOLN2_ENST00000398263.2_Silent_p.P60P|TGOLN2_ENST00000282120.2_Silent_p.P60P|TGOLN2_ENST00000409232.3_Silent_p.P60P O43493 TGON2_HUMAN trans-golgi network protein 2 60 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding TTGGAGTCTGCGGCTCCGGAT 0.597000 7 847 0 0 1 0 0 PHF19 26147 broad.mit.edu 37 9 123636876 123636876 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr9:123636876G>A ENST00000373896.3 - 2 396 c.144C>T c.(142-144)tgC>tgT p.C48C PHF19_ENST00000312189.6_Silent_p.C48C NM_015651.1 NP_056466.1 Q5T6S3 PHF19_HUMAN PHD finger protein 19 48 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTGTCCACCGGCACAGCACAT 0.557000 5 361 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115829176 115829176 + Nonsense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:115829176G>A ENST00000369512.2 - 3 409 c.241C>T c.(241-243)Cga>Tga p.R81* RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 81 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) GAACGGAGTCGCCGCTTTTTA 0.642000 22 143 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 5 513 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836817 43836817 + Silent SNP A A G rs17850164 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr20:43836817A>G ENST00000372781.3 + 2 936 c.879A>G c.(877-879)acA>acG p.T293T SEMG1_ENST00000244069.6_Intron NM_003007.3 NP_002998.1 semenogelin I p.T293T(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CTTCAAGTACAGAAGAAAGAC 0.383000 6 338 0 0 1 0 0 NR2C1 7181 broad.mit.edu 37 12 95451597 95451597 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:95451597G>A ENST00000333003.5 - 6 932 c.602C>T c.(601-603)gCc>gTc p.A201V NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V NM_003297.3 NP_003288.2 P13056 NR2C1_HUMAN nuclear receptor subfamily 2, group C, member 1 201 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 TGTTGAAGCGGCACAGTTGGA 0.343000 5 591 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587708 43587708 + RNA SNP A A G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:43587708A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA AACAACCACCATCTCCAAATC 0.348000 5 257 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4674426 4674426 + Missense_Mutation SNP A A T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:4674426A>T ENST00000396952.5 + 2 1320 c.670A>T c.(670-672)Att>Ttt p.I224F OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) ATATCTGCTTATTCTTAAGAC 0.483000 30 299 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 56 249 0 0 1 0 0 TFDP3 51270 broad.mit.edu 37 X 132351883 132351883 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:132351883G>A ENST00000310125.4 - 1 493 c.405C>T c.(403-405)ggC>ggT p.G135G NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 135 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity p.G135G(1)|p.G75G(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) CGACCAGCTCGCCCACCACTT 0.552000 74 342 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 4 132 0 0 1 0 0 ELF1 1997 broad.mit.edu 37 13 41523989 41523989 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr13:41523989G>A ENST00000239882.3 - 5 796 c.482C>T c.(481-483)gCa>gTa p.A161V ELF1_ENST00000442101.1_Missense_Mutation_p.A137V|ELF1_ENST00000498824.1_5'UTR NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 161 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) CGGTGAGTCTGCATATTTTTC 0.473000 6 785 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:140994960G>A ENST00000285879.4 + 4 2056 c.1770G>A c.(1768-1770)ctG>ctA p.L590L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTGTCTCCTCACT 0.567000 HNSCC(15;0.026) 10 1902 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45688285 45688285 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:45688285G>A ENST00000297323.7 + 5 1059 c.1037G>A c.(1036-1038)cGc>cAc p.R346H ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 346 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CACTGTCGCCGCATCAAGATT 0.587000 5 173 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7773950 7773950 + Silent SNP G G A rs150260189 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr10:7773950G>A ENST00000358415.4 + 13 1804 c.1638G>A c.(1636-1638)acG>acA p.T546T ITIH2_ENST00000379587.4_Silent_p.T535T NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 546 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GCGTTATCACGGCGACTTCGG 0.438000 5 410 0 0 1 0 0 KRTAP8-1 0 broad.mit.edu 37 21 32185365 32185365 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr21:32185365C>T ENST00000329621.4 - 1 205 c.174G>A c.(172-174)tcG>tcA p.S58S NM_175857.3 NP_787053.1 Q8IUC2 KRA81_HUMAN keratin associated protein 8-1 58 intermediate filament central_nervous_system(1)|large_intestine(1)|lung(4) 6 GAGCAAATGGCGAGTATCTCC 0.562000 70 353 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161753 90161753 + RNA SNP T T C rs6500470 by1000genomes TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr16:90161753T>C ENST00000564451.1 + 0 1106 TUBB8P7_ENST00000567960.1_RNA CAGACAGGATTATAAACACAT 0.562000 5 357 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 8 726 0 0 1 0 0 UPK1B 7348 broad.mit.edu 37 3 118913171 118913171 + Missense_Mutation SNP G G T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:118913171G>T ENST00000264234.3 + 6 723 c.574G>T c.(574-576)Gtt>Ttt p.V192F UPK1B_ENST00000497685.1_Missense_Mutation_p.V112F|UPK1B_ENST00000460625.1_Missense_Mutation_p.V184F NM_006952.3 NP_008883.2 O75841 UPK1B_HUMAN uroplakin 1B 192 epithelial cell differentiation integral to membrane structural molecule activity breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 14 GBM - Glioblastoma multiforme(114;0.222) TCAATGCTGTGTTATGAACAA 0.463000 71 367 1.2582e-26 1.33332e-26 1 1 0 GARS 2617 broad.mit.edu 37 7 30656770 30656770 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:30656770G>A ENST00000389266.3 + 10 1476 c.1235G>A c.(1234-1236)cGc>cAc p.R412H NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 412 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity p.R412H(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TTCATTGGCCGCATCTACCTC 0.433000 6 568 0 0 1 0 0 PCDHB3 0 broad.mit.edu 37 5 140481563 140481563 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:140481563G>A ENST00000231130.2 + 1 1330 c.1330G>A c.(1330-1332)Gtc>Atc p.V444I AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 444 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCTCCGACGTCAATGACAA 0.562000 34 466 0 0 1 0 0 STXBP5 0 broad.mit.edu 37 6 147685192 147685192 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:147685192C>T ENST00000367481.3 + 23 2971 c.2863C>T c.(2863-2865)Cgg>Tgg p.R955W STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W|STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 991 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding p.R955W(1)|p.R991W(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TACCAATATGCGGATAGCCAG 0.363000 5 747 0 0 1 0 0 MALT1 10892 broad.mit.edu 37 18 56409220 56409220 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr18:56409220G>A ENST00000348428.3 + 14 1985 c.1727G>A c.(1726-1728)cGg>cAg p.R576Q RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.R565Q NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 576 activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 TCTCTTGTGCGGAATCTACAG 0.378000 T BIRC3 MALT 4 273 0 0 1 0 0 TCP10L2 401285 broad.mit.edu 37 6 167592605 167592605 + Missense_Mutation SNP T T G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:167592605T>G ENST00000366832.2 + 6 895 c.764T>G c.(763-765)gTt>gGt p.V255G NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 255 endometrium(1)|kidney(2)|lung(3) 6 GCAGCCGGAGTTGCTGGTGAG 0.582000 8 73 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 5 30 1.024e-07 1.03863e-07 1 1 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 6 507 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 8 391 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345759 33345759 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr20:33345759C>T ENST00000374796.2 - 8 3362 c.792G>A c.(790-792)caG>caA p.Q264Q NCOA6_ENST00000359003.2_Silent_p.Q264Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 264 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q264Q(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gttgttgttgctgctgctgct 0.532000 4 227 0 0 1 0 0 FOXD4 2298 broad.mit.edu 37 9 117757 117757 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr9:117757C>T ENST00000382500.2 - 1 660 c.363G>A c.(361-363)ccG>ccA p.P121P NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 121 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGCGCTTGTGCGGGCTTTGCA 0.652000 8 893 0 0 1 0 0 NBPF20 100288142 broad.mit.edu 37 1 148346684 148346684 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:148346684G>A ENST00000369202.1 - 2 270 c.73C>T c.(73-75)Cgc>Tgc p.R25C NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C neuroblastoma breakpoint family, member 20 p.R25C(1) breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 AACTGGGGGCGCAATTTCTCG 0.507000 8 1100 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131622750 131622750 + Silent SNP C C T rs34765022 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:131622750C>T ENST00000261654.5 + 24 3064 c.2505C>T c.(2503-2505)aaC>aaT p.N835N GPR133_ENST00000376682.4_Silent_p.N521N|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Silent_p.N354N|GPR133_ENST00000535015.1_Silent_p.N867N NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 835 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.N835N(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GCACCTCCAACGCGAAGCCCT 0.612000 34 138 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 10 286 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 9 267 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91846537 91846537 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:91846537C>T ENST00000370425.3 - 7 903 c.805G>A c.(805-807)Gca>Aca p.A269T HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 269 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.A269T(1) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CTAAATTTTGCCGCTTACAAT 0.219000 5 409 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327921 52327921 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:52327921G>A ENST00000339223.4 + 2 1099 c.920G>A c.(919-921)cGt>cAt p.R307H FPR3_ENST00000595991.1_Missense_Mutation_p.R307H NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 307 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TTTATGGGTCGTAACTTCCAA 0.473000 6 660 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3823809 3823809 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr16:3823809G>A ENST00000262367.5 - 13 3215 c.2406C>T c.(2404-2406)tcC>tcT p.S802S CREBBP_ENST00000382070.3_Silent_p.S764S NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 802 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCGCCCCGCTGGATGACGGGA 0.607000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 54 213 0 0 1 0 0 THAP9 79725 broad.mit.edu 37 4 83827666 83827666 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:83827666G>A ENST00000302236.5 + 3 517 c.466G>A c.(466-468)Gta>Ata p.V156I NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 156 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) ACTTATCTCCGTAAAGAACTA 0.388000 6 564 0 0 1 0 0 GTF2IRD1P1 0 broad.mit.edu 37 7 66304550 66304550 + RNA SNP T T G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:66304550T>G ENST00000457166.1 - 0 255 NR_003934.1 CATCCCACAATCAGAATCCTC 0.542000 33 138 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208913 58208913 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr13:58208913G>A ENST00000377918.3 + 1 2259 c.2233G>A c.(2233-2235)Gcc>Acc p.A745T NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 745 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CTGCCGCATCGCCGAGTACAG 0.547000 26 168 0 0 1 0 0 WDR77 79084 broad.mit.edu 37 1 111991320 111991320 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:111991320G>A ENST00000235090.5 - 2 428 c.222C>T c.(220-222)tcC>tcT p.S74S WDR77_ENST00000411751.2_Silent_p.S74S NM_024102.2 NP_077007.1 Q9BQA1 MEP50_HUMAN WD repeat domain 77 74 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) GGACTCCGGCGGAGCAGAAGC 0.622000 4 172 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 74 266 8.87156e-34 9.54365e-34 1 1 0 HIPK3 10114 broad.mit.edu 37 11 33373714 33373714 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:33373714G>A ENST00000303296.4 + 16 3379 c.3074G>A c.(3073-3075)cGa>cAa p.R1025Q HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 1025 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 ATAAAAGGACGATCTGCCCCT 0.378000 9 737 0 0 1 0 0 TLX2 3196 broad.mit.edu 37 2 74742813 74742813 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:74742813C>T ENST00000233638.7 + 2 777 c.454C>T c.(454-456)Cgg>Tgg p.R152W NM_016170.4 NP_057254.1 O43763 TLX2_HUMAN T-cell leukemia homeobox 2 152 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|ovary(1) 2 CTACCAAAACCGGACCCCTCC 0.657000 55 302 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25427504 25427504 + RNA SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr15:25427504G>A ENST00000424208.1 + 0 272 NR_003305.1 TGCTGGATGCGTGTGCGGGGA 0.542000 6 652 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277663 140277663 + Missense_Mutation SNP G G A rs137889465 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:140277663G>A ENST00000458420.3 + 12 2195 c.2005G>A c.(2005-2007)Gcc>Acc p.A669T NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 669 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.A669T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GAGCACCTTCGCCAAAACCGA 0.532000 HNSCC(16;0.037) 43 192 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63410676 63410676 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:63410676C>T ENST00000330258.3 - 2 2763 c.2491G>A c.(2491-2493)Gat>Aat p.D831N AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) AGATCTTCATCATTGTGGAAC 0.507000 36 99 0 0 1 0 0 WNT5A 7474 broad.mit.edu 37 3 55504434 55504434 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:55504434G>A ENST00000474267.1 - 6 1350 c.829C>T c.(829-831)Cgg>Tgg p.R277W WNT5A_ENST00000497027.1_Missense_Mutation_p.R262W|WNT5A_ENST00000264634.4_Missense_Mutation_p.R277W P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 277 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) CTGTTGAGCCGCATGGCCGCC 0.612000 4 113 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10452358 10452358 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:10452358G>A ENST00000397077.1 - 5 916 c.341C>T c.(340-342)gCc>gTc p.A114V ATP2B2_ENST00000343816.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A114V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A114V Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 114 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GATGATGGCGGCAATCTCCAG 0.592000 7 939 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141418884 141418884 + Nonsense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:141418884C>T ENST00000397541.2 + 4 1004 c.598C>T c.(598-600)Cga>Tga p.R200* WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 200 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) ATGTGTTTTACGAGAAACCAA 0.343000 116 528 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109369904 109369904 + Missense_Mutation SNP T T C TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:109369904T>C ENST00000370001.3 - 11 2127 c.1859A>G c.(1858-1860)aAg>aGg p.K620R AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 620 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TCCGTGGCCCTTTTTCTCCAC 0.413000 6 950 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153661467 153661467 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:153661467G>A ENST00000368680.3 + 16 2928 c.2456G>A c.(2455-2457)cGc>cAc p.R819H NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 819 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CTGCTGTCCCGCATGGAGCAG 0.627000 5 605 0 0 1 0 0 FBXL2 25827 broad.mit.edu 37 3 33400492 33400492 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:33400492C>T ENST00000484457.1 + 3 190 c.99C>T c.(97-99)tgC>tgT p.C33C FBXL2_ENST00000538892.1_Silent_p.C33C|FBXL2_ENST00000507198.1_Silent_p.C33C|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538181.1_Intron NM_012157.3 NP_036289.3 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 33 F-box. interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity p.C33C(2) endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 TAACTTTGTGCCGATGTGCAC 0.289000 5 371 0 0 1 0 0 GLCE 26035 broad.mit.edu 37 15 69553616 69553616 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr15:69553616G>A ENST00000261858.2 + 4 1005 c.777G>A c.(775-777)gcG>gcA p.A259A GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Silent_p.A195A NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 259 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 GCTTTATGGCGAATGTGGCTG 0.393000 5 549 0 0 1 0 0 SYT2 127833 broad.mit.edu 37 1 202568444 202568444 + Missense_Mutation SNP T T G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:202568444T>G ENST00000367267.1 - 8 1147 c.955A>C c.(955-957)Aag>Cag p.K319Q SYT2_ENST00000367268.4_Missense_Mutation_p.K319Q NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 319 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TTGAGCCTCTTGCCATTCTGC 0.532000 58 427 0 0 1 0 0 GPBAR1 151306 broad.mit.edu 37 2 219128297 219128297 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:219128297G>A ENST00000522678.1 + 2 1718 c.850G>A c.(850-852)Gat>Aat p.D284N GPBAR1_ENST00000519574.1_Missense_Mutation_p.D284N|GPBAR1_ENST00000521462.1_Missense_Mutation_p.D284N|GPBAR1_ENST00000479077.1_Missense_Mutation_p.D284N NM_001077191.1 NP_001070659.1 Q8TDU6 GPBAR_HUMAN G protein-coupled bile acid receptor 1 284 integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGCTGGGCGATCAGCGCTA 0.687000 4 151 0 0 1 0 0 STEAP3 55240 broad.mit.edu 37 2 120005557 120005557 + Silent SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:120005557G>A ENST00000354888.5 + 4 1299 c.795G>A c.(793-795)gtG>gtA p.V265V STEAP3_ENST00000425223.2_Silent_p.V265V|STEAP3_ENST00000393110.2_Silent_p.V275V|STEAP3_ENST00000450943.2_Silent_p.V265V|STEAP3_ENST00000393108.2_Silent_p.V265V|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Silent_p.V265V|STEAP3_ENST00000393106.2_Silent_p.V265V|STEAP3_ENST00000393107.2_Silent_p.V265V NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 265 Ferric oxidoreductase. apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 TGGCCTACGTGCTGCTGTCAC 0.647000 7 385 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 8 172 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157488191 157488191 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:157488191G>A ENST00000346085.5 + 10 2898 c.2897G>A c.(2896-2898)gGc>gAc p.G966D ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D|ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D|ARID1B_ENST00000350026.5_Missense_Mutation_p.G953D NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 953 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AGTTTCCCCGGCATGAACCAG 0.537000 6 911 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86672813 86672813 + Nonsense_Mutation SNP C C A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:86672813C>A ENST00000456692.2 + 17 1884 c.1769C>A c.(1768-1770)tCg>tAg p.S590* RASA1_ENST00000512763.1_Nonsense_Mutation_p.S600*|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000506290.1_Nonsense_Mutation_p.S601*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.S767* NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 767 C2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) AAGCTTGAATCGTTGTTGTTA 0.383000 61 359 1.80625e-27 1.93333e-27 1 1 0 MECR 51102 broad.mit.edu 37 1 29543100 29543100 + Splice_Site SNP C C A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:29543100C>A ENST00000373791.3 - 2 418 c.46_splice c.e2+1 p.G16_splice MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Splice_Site_p.G92_splice NM_001024732.1|NM_016011.2 NP_001019903.1|NP_057095.2 Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase 92 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) CCAAGGTTACCTTGGATCATA 0.458000 169 707 1.58721e-73 1.72487e-73 1 1 0 POTEC 388468 broad.mit.edu 37 18 14513663 14513663 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr18:14513663C>T ENST00000358970.5 - 10 1530 c.1531G>A c.(1531-1533)Gag>Aag p.E511K NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 511 p.E511K(3) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAAAATACCTCAGAATTCATT 0.269000 5 419 0 0 1 0 0 CCDC181 57821 broad.mit.edu 37 1 169391135 169391135 + Silent SNP G G A rs80127542 byFrequency TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:169391135G>A ENST00000545005.1 - 4 1041 c.534C>T c.(532-534)aaC>aaT p.N178N CCDC181_ENST00000367806.3_Silent_p.N178N|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Silent_p.N178N coiled-coil domain containing 181 TATTCCTTTCGTTTTCAAAAT 0.343000 63 349 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215987140 215987140 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:215987140C>T ENST00000366943.2 - 49 10063 c.9677G>A c.(9676-9678)cGa>cAa p.R3226Q USH2A_ENST00000307340.3_Missense_Mutation_p.R3226Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3226 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTCCTGTATTCGGCCACCACA 0.453000 HNSCC(13;0.011) 103 372 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176308805 176308805 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:176308805G>A ENST00000292432.5 - 17 2372 c.2281C>T c.(2281-2283)Cgc>Tgc p.R761C NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 761 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGATGTGGCGGACGATCTCC 0.562000 46 371 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33143391 33143391 + Missense_Mutation SNP G G A rs150877886 byFrequency TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:33143391G>A ENST00000341947.2 - 30 2563 c.2336C>T c.(2335-2337)cCg>cTg p.P779L COL11A2_ENST00000374713.1_Missense_Mutation_p.P732L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P719L|COL11A2_ENST00000374708.4_Missense_Mutation_p.P693L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P698L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P672L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.P753L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P758L NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 779 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GTCTCCAGTCGGTCCAGTGCG 0.647000 50 164 0 0 1 0 0 TCP10L2 401285 broad.mit.edu 37 6 167592606 167592606 + Silent SNP T T A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:167592606T>A ENST00000366832.2 + 6 896 c.765T>A c.(763-765)gtT>gtA p.V255V NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 255 endometrium(1)|kidney(2)|lung(3) 6 CAGCCGGAGTTGCTGGTGAGC 0.577000 9 72 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153593084 153593084 + Missense_Mutation SNP A A G TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:153593084A>G ENST00000422373.1 - 13 2080 c.1832T>C c.(1831-1833)tTc>tCc p.F611S FLNA_ENST00000344736.4_Missense_Mutation_p.F611S|FLNA_ENST00000369850.3_Missense_Mutation_p.F611S|FLNA_ENST00000360319.4_Missense_Mutation_p.F611S NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 611 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTCCACCGAGAAGCCTGACAA 0.642000 65 374 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691293 153691293 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:153691293C>T ENST00000304337.2 - 2 1684 c.864G>A c.(862-864)gaG>gaA p.E288E NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 288 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) CTGGAAAAGACTCAACAAAAA 0.398000 92 470 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112926259 112926259 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:112926259C>T ENST00000351677.2 + 12 1590 c.1392C>T c.(1390-1392)ggC>ggT p.G464G NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 468 Substrate binding (By similarity).|Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 CTGGAATTGGCCGGACAGGGA 0.443000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 5 359 0 0 1 0 0 CIRH1A 84916 broad.mit.edu 37 16 69197063 69197063 + Silent SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr16:69197063C>T ENST00000563094.1 + 14 1663 c.1629C>T c.(1627-1629)atC>atT p.I543I CIRH1A_ENST00000314423.7_Silent_p.I543I|CIRH1A_ENST00000352319.4_Silent_p.I428I Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 543 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) ACCTTGTCATCGCTCATTCGG 0.498000 57 549 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 10 190 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66230893 66230893 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:66230893C>T ENST00000273854.3 - 12 2678 c.2078G>A c.(2077-2079)cGt>cAt p.R693H EPHA5_ENST00000354839.4_Missense_Mutation_p.R671H|EPHA5_ENST00000511294.1_Missense_Mutation_p.R694H|EPHA5_ENST00000432638.2_Missense_Mutation_p.R530H NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 693 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.R693H(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TAGTTTCAAACGTCCACTACA 0.358000 TSP Lung(17;0.13) 57 347 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371360 240371360 + Missense_Mutation SNP C C T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:240371360C>T ENST00000319653.9 + 5 3478 c.3248C>T c.(3247-3249)gCg>gTg p.A1083V NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1083 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTTCCCGGAGCGGGCATACCC 0.731000 5 91 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 10 751 --- --- --- --- CDC7 8317 broad.mit.edu 37 1 91967356 91967357 + Frame_Shift_Ins INS - - A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:91967356_91967357insA ENST00000428239.1 + 2 342_343 c.83_84insA c.(82-84)taafs p.*28fs CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAACG 0.406 17 451 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 16 36 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 21 106 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 9 51 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 8 1084 --- --- --- --- COPA 1314 broad.mit.edu 37 1 160295426 160295427 + Frame_Shift_Ins INS - - T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:160295426_160295427insT ENST00000241704.7 - 7 741_742 c.512_513insA c.(511-513)actfs p.T171fs COPA_ENST00000368069.3_Frame_Shift_Ins_p.T171fs NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 171 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGGGGACAGGTTTTTTTTCCT 0.406 7 581 --- --- --- --- RASAL2 9462 broad.mit.edu 37 1 178412040 178412041 + Frame_Shift_Ins INS - - A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr1:178412040_178412041insA ENST00000448150.3 + 8 1922_1923 c.1104_1105insA c.(1102-1107)aaaaaafs p.KK368fs RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.KK386fs|RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.KK238fs NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 238 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 TGGAAAAAAAGAAAAAAAAGGA 0.406 7 462 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 7 1121 --- --- --- --- IL1R2 7850 broad.mit.edu 37 2 102638648 102638649 + Splice_Site INS - - A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:102638648_102638649insA ENST00000332549.3 + 6 917_918 c.e6-1 IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) ATCTTTCTCAGAAAAAAAAGAA 0.441 8 1257 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 8 1131 --- --- --- --- SOWAHC 65124 broad.mit.edu 37 2 110373192 110373192 + Frame_Shift_Del DEL A A - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:110373192delA ENST00000356454.3 + 1 1282 c.1126delA c.(1126-1128)aafs p.K377fs NM_023016.3 NP_075392.2 Q53LP3 ANR57_HUMAN sosondowah ankyrin repeat domain family member C 377 CTACAGTGGGAAAAAGGCCTC 0.652 7 269 --- --- --- --- R3HDM1 23518 broad.mit.edu 37 2 136409480 136409482 + In_Frame_Del DEL CCT CCT - rs139457585 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:136409480_136409482delCCT ENST00000264160.4 + 17 2171_2173 c.1801_1803delCCT c.(1801-1803)del p.P605del R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 605 Poly-Pro. nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) accaccaccacctcctcctcctc 0.586 8 358 --- --- --- --- MARCH7 64844 broad.mit.edu 37 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:160604680delT ENST00000259050.3 + 5 1001 c.879delT c.(877-879)acfs p.T293fs MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs|MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 293 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TGTCATCTACTTTTTTTTCAC 0.393 10 492 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179596076 179596076 + Frame_Shift_Del DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:179596076delT ENST00000589042.1 - 59 17641 c.17417delA c.(17416-17418)atfs p.N5806fs TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.N5489fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.N4562fs|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5489 Ig-like 39. 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) TCCTGCATCATTTTTGGCCTG 0.408 7 1452 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 7 521 --- --- --- --- HSPD1P6 0 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 9 32 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 7 437 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 19 249 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:154032977_154032978insT ENST00000496811.1 - 3 540_541 c.460_461insA c.(460-462)gttfs p.V154fs DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 154 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GATTCTAAACATTTTTTTTTCT 0.337 8 352 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 14 1302 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:1388441_1388442insCG ENST00000324803.4 + 1 3102_3103 c.142_143insCG c.(142-144)gccfs p.A48fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 21 1812 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 760 Gln-rich. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) cctgggagctctgctgctgctgc 0.512 7 261 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 8 177 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 12 382 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 7 566 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129964624 129964625 + Splice_Site INS - - A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:129964624_129964625insA ENST00000281142.5 - 4 665 c.e4-2 SCLT1_ENST00000434680.1_Splice_Site|SCLT1_ENST00000503401.1_Splice_Site|SCLT1_ENST00000506368.1_Splice_Site|SCLT1_ENST00000511426.1_Splice_Site|SCLT1_ENST00000503215.1_Splice_Site|SCLT1_ENST00000439369.2_Splice_Site NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 GCTAAAAAGCTAAAAAAAGACA 0.272 8 162 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 9 26 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. 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 AAAACTGGCGTCCTCCTCCTCCT 0.527 9 606 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 7 897 --- --- --- --- TIGD6 81789 broad.mit.edu 37 5 149375600 149375600 + Frame_Shift_Del DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:149375600delT ENST00000296736.3 - 2 1086 c.312delA c.(310-312)aafs p.K104fs TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs NM_030953.3 NP_112215.1 Q17RP2 TIGD6_HUMAN tigger transposable element derived 6 104 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGTTTAGTGCTTTTTTCCGAA 0.423 7 1403 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 14 1415 --- --- --- --- CANX 821 broad.mit.edu 37 5 179151711 179151728 + In_Frame_Del DEL GAAGGAAGAGGAAGAAGA GAAGGAAGAGGAAGAAGA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:179151711_179151728delGAAGGAAGAGGAAGAAGA ENST00000247461.4 + 13 1772_1789 c.1572_1589delGAAGGAAGAGGAAGAAGA c.(1570-1590)gtg>gt p.VKEEEEE524del CANX_ENST00000452673.2_In_Frame_Del_p.VKEEEEE524del|CANX_ENST00000504734.1_In_Frame_Del_p.VKEEEEE524del|CANX_ENST00000512607.2_In_Frame_Del_p.VKEEEEE416del|CANX_ENST00000415618.2_In_Frame_Del_p.VKEEEEE559del NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 524 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) AACCGGATGTGAaggaagaggaagaagagaaggaagag 0.413 36 242 --- --- --- --- BTNL8 79908 broad.mit.edu 37 5 180374632 180374633 + Frame_Shift_Del DEL GA GA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr5:180374632_180374633delGA ENST00000231229.4 + 4 1028_1029 c.794_795delGA c.(793-795)cfs p.R265fs BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 265 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGTGTAAGCGAGAGAGAGAAG 0.495 12 1598 --- --- --- --- FOXQ1 94234 broad.mit.edu 37 6 1313512 1313526 + In_Frame_Del DEL CAACTACTGGATGCT CAACTACTGGATGCT - rs112141050 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:1313512_1313526delCAACTACTGGATGCT ENST00000296839.2 + 1 838_852 c.573_587delCAACTACTGGATGCT c.(571-588)gac>ga p.DNYWML191del NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 191 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) GGGGCAAGGACAACTACTGGATGCTCAACCCCAAC 0.707 7 250 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:18264079_18264081delTCC ENST00000397239.3 - 2 585_587 c.138_140delGGA c.(136-141)gaa>ga p.EE46del DEK_ENST00000244776.7_In_Frame_Del_p.EE46del NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 46 Asp/Glu-rich (highly acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCACCTTTTtcctcctcctcct 0.532 T NUP214 AML 9 304 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 8 470 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 10 232 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 7 661 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 9 29 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84896233 84896233 + Frame_Shift_Del DEL A A - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:84896233delA ENST00000403245.3 - 12 1332 c.1218delT c.(1216-1218)ttfs p.F406fs KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 406 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTTTTGTCAAAAAAAAGGT 0.358 14 504 --- --- --- --- RNGTT 8732 broad.mit.edu 37 6 89638988 89638988 + Splice_Site DEL T T - rs111616936 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:89638988delT ENST00000369485.4 - 3 361 c.e3-2 RNGTT_ENST00000265607.6_Splice_Site|RNGTT_ENST00000538899.1_Splice_Site|RNGTT_ENST00000369475.3_Splice_Site NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) CATTTTAACCTAAAAAAAAAA 0.299 9 461 --- --- --- --- GABRR2 2570 broad.mit.edu 37 6 89975427 89975429 + In_Frame_Del DEL AAG AAG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:89975427_89975429delAAG ENST00000402938.3 - 7 925_927 c.792_794delCTT c.(790-795)ttg>tt p.FL264del GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 289 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGTTTGGAGCAAGAAGAAGAAGA 0.517 7 285 --- --- --- --- NCOA7 135112 broad.mit.edu 37 6 126176316 126176317 + Frame_Shift_Ins INS - - A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:126176316_126176317insA ENST00000368357.3 + 4 553_554 c.201_202insA c.(199-204)gaaaaafs p.EK67fs NCOA7_ENST00000392477.2_Frame_Shift_Ins_p.EK67fs|NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000487635.1_3'UTR NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 67 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) TGACTGATGAGAAAAAAAAGAG 0.356 9 764 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000392299.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 Asp/Glu-rich (acidic). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGCCCGCGGACGACGACGACG 0.650 7 562 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 9 501 --- --- --- --- ZCWPW1 55063 broad.mit.edu 37 7 100000150 100000151 + Frame_Shift_Ins INS - - T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:100000150_100000151insT ENST00000398027.2 - 16 1706_1707 c.1459_1460insA c.(1459-1461)caafs p.Q487fs ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 487 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCTTGGCTTGGTTTTTTGGGTC 0.480 8 2842 --- --- --- --- CPED1 79974 broad.mit.edu 37 7 120739977 120739978 + Splice_Site DEL TA TA - rs142662878 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:120739977_120739978delTA ENST00000310396.5 + 7 1216 c.e7-1 CPED1_ENST00000450913.2_Splice_Site|CPED1_ENST00000423795.1_Splice_Site NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TTTTTTTTTTTAGGAATGAAAC 0.376 7 392 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142479817 142479817 + RNA DEL G G - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:142479817delG ENST00000603901.1 + 0 40 NR_001296.3 TGCTTGTTAAGGATTTCTAAC 0.557 23 250 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccafs p.PT571fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 7 261 --- --- --- --- NUGGC 389643 broad.mit.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr8:27888776delT ENST00000413272.2 - 15 2034 c.1892delA c.(1891-1893)atfs p.N631fs NUGGC_ENST00000341513.6_Frame_Shift_Del_p.N631fs NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GATCAGGAAATTTTTTTTGCA 0.453 11 751 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 9 410 --- --- --- --- COL15A1 1306 broad.mit.edu 37 9 101797335 101797335 + Frame_Shift_Del DEL A A - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr9:101797335delA ENST00000375001.3 + 18 2542 c.2119delA c.(2119-2121)aafs p.K708fs NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 708 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) ACCCCCGGGGAAAAAGGGACA 0.612 8 438 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50732139 50732141 + In_Frame_Del DEL CCT CCT - rs4253047 byFrequency TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr10:50732139_50732141delCCT ENST00000355832.5 - 5 1413_1415 c.1335_1337delAGG c.(1333-1338)ggt>gg p.GG445del PGBD3_ENST00000374127.3_5'UTR|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 445 Gly-rich. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CACTTTCCGACCTCCTCCTCCTC 0.458 Direct reversal of damage;Nucleotide excision repair (NER) 7 424 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 7 362 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2025 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATGTTTACCTTTTTTTTCCT 0.373 8 444 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 8 584 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 8 434 --- --- --- --- AP2A2 161 broad.mit.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:970195delA ENST00000448903.2 + 3 304 c.163delA c.(163-165)aafs p.K57fs AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 57 Lipid-binding. axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity p.K57fs*24(1) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TGGCTATAGTAAAAAAAAGTA 0.488 8 610 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 8 1089 --- --- --- --- PRDM11 56981 broad.mit.edu 37 11 45246124 45246125 + Frame_Shift_Ins INS - - C TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:45246124_45246125insC ENST00000263765.4 + 8 1450_1451 c.1201_1202insC c.(1201-1203)cccfs p.P401fs PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Frame_Shift_Ins_p.P401fs|PRDM11_ENST00000424263.2_Frame_Shift_Ins_p.P367fs|CTD-2560E9.3_ENST00000527450.1_RNA Q9NQV5 PRD11_HUMAN PR domain containing 11 401 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 GGACTGGAAGGTCCCCCAGGGG 0.574 7 647 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 67018079 67018081 + In_Frame_Del DEL GAG GAG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:67018079_67018081delGAG ENST00000529006.2 + 17 3024_3026 c.2578_2580delGAG c.(2578-2580)del p.E866del KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ggaggaggaagaggaggaggagg 0.655 7 120 --- --- --- --- CD3G 917 broad.mit.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:118220583delA ENST00000532917.1 + 3 273 c.205delA c.(205-207)aafs p.K71fs CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 71 Ig-like. establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) AACTGAAGATAAAAAAAAATG 0.403 12 328 --- --- --- --- IFT46 56912 broad.mit.edu 37 11 118427645 118427647 + In_Frame_Del DEL TCA TCA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:118427645_118427647delTCA ENST00000264020.2 - 5 689_691 c.312_314delTGA c.(310-315)gaa>ga p.DE104del IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del|IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 53 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 TCCATGCTCTTCATCATCATCAT 0.473 7 960 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr11:125505377_125505378insA ENST00000534070.1 + 7 922_923 c.667_668insA c.(667-669)aaafs p.K223fs CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. E -> V (in dbSNP:rs35817404). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 Other conserved DNA damage response genes 12 798 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:6711546delT ENST00000309577.6 - 3 381 c.218delA c.(217-219)agfs p.K73fs CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 73 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACTCACCTCCTTTTTTTGGCG 0.468 7 1475 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 7 600 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 8 393 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88524078 88524079 + Frame_Shift_Ins INS - - T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:88524078_88524079insT ENST00000552810.1 - 9 978_979 c.635_636insA c.(634-636)atafs p.I212fs CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 212 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 TAAGCTCATAGTTTTTTTTAGA 0.317 7 781 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 8 314 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 10 687 --- --- --- --- SPPL3 121665 broad.mit.edu 37 12 121221520 121221522 + In_Frame_Del DEL GGA GGA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:121221520_121221522delGGA ENST00000353487.2 - 5 847_849 c.344_346delTCC c.(343-348)ccg>c p.LP115del NM_139015.4 NP_620584.2 Q8TCT6 PSL4_HUMAN signal peptide peptidase like 3 116 integral to membrane aspartic-type endopeptidase activity all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGGCACATCGGGAGGAGAAGAAA 0.325 78 231 --- --- --- --- LRRC43 254050 broad.mit.edu 37 12 122685346 122685346 + Frame_Shift_Del DEL C C - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:122685346delC ENST00000339777.4 + 10 1702 c.1674delC c.(1672-1674)gafs p.D558fs LRRC43_ENST00000425921.1_Frame_Shift_Del_p.D373fs|LRRC43_ENST00000537733.1_3'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 558 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TCCGGCAGGACCCCCCCATCC 0.667 8 296 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 10 595 --- --- --- --- HSPH1 10808 broad.mit.edu 37 13 31715381 31715382 + Frame_Shift_Ins INS - - T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr13:31715381_31715382insT ENST00000320027.5 - 13 2075_2076 c.1731_1732insA c.(1729-1734)aattgafs p.N*577fs HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 577 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTGGTCAACTTTTTTTTCAT 0.376 7 525 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 7 952 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 15 249 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr14:24633132_24633134delAGC ENST00000396864.3 + 5 828_830 c.541_543delAGC c.(541-543)del p.S187del IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 187 Poly-Ser. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) AGACATTGGGagcagcagcagca 0.567 13 246 --- --- --- --- PSMA6 5687 broad.mit.edu 37 14 35782216 35782216 + Frame_Shift_Del DEL A A - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr14:35782216delA ENST00000261479.4 + 5 659 c.539delA c.(538-540)gafs p.E180fs PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs|PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 180 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) AGCTTCCTTGAAAAAAAAGTG 0.403 9 747 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 7 108 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94517596 94517598 + In_Frame_Del DEL TCT TCT - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr14:94517596_94517598delTCT ENST00000330836.5 - 9 2650_2652 c.2519_2521delAGA c.(2518-2523)aca>a p.KT840del DDX24_ENST00000544005.1_In_Frame_Del_p.KT590del|DDX24_ENST00000553400.1_5'UTR|DDX24_ENST00000555054.1_In_Frame_Del_p.KT797del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 840 Poly-Lys. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) GGCTTCTTTGTCTTCTTCTTCTT 0.512 OREG0022891 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 469 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 8 765 --- --- --- --- RP11-69H14.6 0 broad.mit.edu 37 15 22332412 22332413 + RNA INS - - A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr15:22332412_22332413insA ENST00000558896.1 + 0 219_220 TTGGCTTGATGAAAAAAAACAA 0.322 7 734 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25324325 25324325 + RNA DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr15:25324325delT ENST00000549804.2 + 0 1377 ACAACTGTCATTTTTTTTGAT 0.478 7 348 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25328849 25328850 + RNA DEL AG AG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr15:25328849_25328850delAG ENST00000546682.1 + 0 320 SNHG14_ENST00000549804.2_RNA NR_003361.1 ATCAGGGGCTAGAGAGAGAGAC 0.460 8 1038 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25337049 25337050 + RNA DEL GA GA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr15:25337049_25337050delGA ENST00000546682.1 + 0 969 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 ACTGGAGCTGGAGAGAGAGAGA 0.500 7 762 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr16:20370700_20370702delCCA ENST00000302451.4 - 12 1942_1944 c.1694_1696delTGG c.(1693-1698)gct>g p.VA565del NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 8 1196 --- --- --- --- C16orf70 80262 broad.mit.edu 37 16 67180989 67180989 + Frame_Shift_Del DEL C C - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr16:67180989delC ENST00000219139.3 + 16 1412 c.1224delC c.(1222-1224)ggfs p.G408fs C16orf70_ENST00000569600.1_Frame_Shift_Del_p.G408fs NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 408 p.R411fs*4(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) CCCTGTATGGCCCCCCCAGGC 0.597 8 471 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr16:85682289_85682290insC ENST00000253458.7 + 3 534_535 c.358_359insC c.(358-360)cccfs p.P120fs GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs|GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) CGTGCCCAGCACCCCCCCCGTG 0.688 10 387 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 12 274 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 8 174 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del|BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 7 262 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66137712 66137713 + RNA INS - - A rs142509384 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr17:66137712_66137713insA ENST00000590019.1 - 0 151 GGAAGAAATAGAAAAAAAAAAA 0.371 2 4 --- --- --- --- ANKRD20A5P 0 broad.mit.edu 37 18 14184361 14184362 + RNA INS - - T rs143131015 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr18:14184361_14184362insT ENST00000581935.1 + 0 1050_1051 lung(3) 3 ATGCAGGGTTATCTTTCCTTTT 0.322 2 4 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 10 660 --- --- --- --- RTTN 25914 broad.mit.edu 37 18 67697249 67697249 + Splice_Site DEL T T - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr18:67697249delT ENST00000255674.6 - 42 6030 c.5745_splice c.e42+1 p.K1915_splice RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1915 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GAATGTTACCTTTTTTTTCAA 0.398 7 439 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 7 251 --- --- --- --- ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A A - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:12430217delA ENST00000293725.5 - 4 827 c.622delT c.(622-624)ggfs p.W208fs ZNF563_ENST00000595977.1_Intron NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AAACTGGGCCAAAAAAAAGCT 0.393 8 848 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 14 649 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 12 468 --- --- --- --- SIGLEC7 27036 broad.mit.edu 37 19 51645936 51645936 + Frame_Shift_Del DEL A A - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:51645936delA ENST00000317643.6 + 1 379 c.310delA c.(310-312)aafs p.K104fs SIGLEC7_ENST00000600577.1_Frame_Shift_Del_p.K104fs|SIGLEC7_ENST00000305628.7_Frame_Shift_Del_p.K104fs NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 104 Ig-like V-type. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CCCACAGACCAAAAATTGCAC 0.473 7 644 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ccc>c p.LP8del SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 12 310 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 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) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 9 291 --- --- --- --- KIR2DL4 0 broad.mit.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - rs148484482 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:55324675delA ENST00000396284.2 + 6 796 c.796delA c.(796-798)aafs p.K268fs KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 p.M271fs*>3(1) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTGGTGCTCCAAAAAAAAAGT 0.532 10 321 --- --- --- --- ZNF749 388567 broad.mit.edu 37 19 57956841 57956841 + Frame_Shift_Del DEL A A - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr19:57956841delA ENST00000334181.4 + 3 2575 c.2325delA c.(2323-2325)ggfs p.G775fs AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 775 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TTCATACTGGAAAAAGGCCTT 0.388 7 566 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 7 170 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33345745 33345747 + In_Frame_Del DEL TGT TGT - rs41290900 byFrequency TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr20:33345745_33345747delTGT ENST00000374796.2 - 8 3374_3376 c.804_806delACA c.(802-807)cag>ca p.QQ284del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ284del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 284 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ctgctgctgctgttgttgttgtt 0.532 8 219 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61537401 61537402 + Frame_Shift_Ins INS - - T rs140153728 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr20:61537401_61537402insT ENST00000266070.4 - 6 1750_1751 c.1425_1426insA c.(1423-1428)aaagacfs p.D476fs DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 476 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) ACTGTGGTCTCTTTTTTTTCTG 0.490 7 558 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 14 606 --- --- --- --- MORC3 23515 broad.mit.edu 37 21 37741376 37741378 + In_Frame_Del DEL TGA TGA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr21:37741376_37741378delTGA ENST00000400485.1 + 15 1786_1788 c.1710_1712delTGA c.(1708-1713)ggt>gg p.GD570del MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 570 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 TTTATAAAGGTGATGATGATGAT 0.365 8 489 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr22:38120029_38120031delCCT ENST00000406386.3 + 7 1721_1723 c.1466_1468delCCT c.(1465-1470)gcc>g p.AS489del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 489 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 17 497 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120323 38120325 + In_Frame_Del DEL CCT CCT - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr22:38120323_38120325delCCT ENST00000406386.3 + 7 2015_2017 c.1760_1762delCCT c.(1759-1764)gcc>g p.AS587del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 587 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAA 0.596 8 881 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 12 409 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 12 343 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 135 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TATCACCCCACCCCCCCCACC 0.488 7 742 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 21 41 --- --- --- --- NKAP 79576 broad.mit.edu 37 X 119072752 119072753 + Frame_Shift_Del DEL TC TC - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:119072752_119072753delTC ENST00000371410.3 - 2 573_574 c.407_408delGA c.(406-408)afs p.R136fs NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 136 negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 ATTCTCCAATTCTCTCTCTCTC 0.322 7 871 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75 20866917-ab2f-4c68-9874-ea8be01bd72b g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 9 512 --- --- --- ---